den Hoed J, Hashimoto H, Khan M, Semmekrot F, Bosanko KA, Abe-Hatano C, Nakagawa E, Venselaar H, Quercia N, Chad L, Kurosaka H, Rondeau S, Fisher SE, Yamamoto S, Zarate YA. Pathogenic SATB2 missense variants affecting p.Gly392 have variable functional implications and result in diverse clinical phenotypes. J Med Genet. 2024 Oct 23; 61(11):1062-1067.

Blanco T, Nakagawa H, Musayeva A, Krauthammer M, Singh RB, Narimatsu A, Ge H, Shoushtari SI, Dana R. Acquired immunostimulatory phenotype of migratory CD103+ DCs promotes alloimmunity following corneal transplantation. JCI Insight. 2024 Oct 22; 9(20).

Nemiroff S, Goulden P. Tailoring an antihyperglycaemic regimen to a monogenic diabetes variant. BMJ Case Rep. 2024 Sep 20; 17(9).

Zhao C, Rong K, Liu P, Kong K, Li H, Zhang P, Chen X, Fu Q, Wang X. Preventing periprosthetic osteolysis in aging populations through lymphatic activation and stem cell-associated secretory phenotype inhibition. Commun Biol. 2024 Aug 09; 7(1):962.

Zarate YA, Bosanko K, Derar N, Fish JL. Abnormalities in pharyngeal arch-derived structures in SATB2-associated syndrome. Clin Genet. 2024 Aug; 106(2):209-213.

Ozrazgat-Baslanti T, Ren Y, Adiyeke E, Islam R, Hashemighouchani H, Ruppert M, Miao S, Loftus T, Johnson-Mann C, Madushani RWMA, Shenkman EA, Hogan W, Segal MS, Lipori G, Bihorac A, Hobson C. Development and validation of a race-agnostic computable phenotype for kidney health in adult hospitalized patients. PLoS One. 2024; 19(4):e0299332.

Attaway AH, Lopez R, Welch N, Bellar A, Hatipoglu U, Zein J, Engelen MP, Dasarathy S. Muscle loss phenotype in COPD is associated with adverse outcomes in the UK Biobank. BMC Pulm Med. 2024 Apr 17; 24(1):186.

Dittman JM, Prakash SK, Gupta PC, Wiszniewski W, Singh N, Smeds MR, Shalhub S. Practice Patterns and Barriers to Vascular Genetic Testing Among Vascular Surgeons. Ann Vasc Surg. 2024 Aug; 105:140-149.

Khrom M, Long M, Dube S, Robbins L, Botwin GJ, Yang S, Mengesha E, Li D, Naito T, Bonthala NN, Ha C, Melmed G, Rabizadeh S, Syal G, Vasiliauskas E, Ziring D, Brant SR, Cho J, Duerr RH, Rioux J, Schumm P, Silverberg M, Ananthakrishnan AN, Faubion WA, Jabri B, Lira SA, Newberry RD, Sandler RS, Xavier RJ, Kugathasan S, Hercules D, Targan SR, Sartor RB, Haritunians T, McGovern DPB. Comprehensive Association Analyses of Extraintestinal Manifestations in Inflammatory Bowel Disease. Gastroenterology. 2024 Jul; 167(2):315-332.

Mahmood L, Keskin S, Jefferson AA. Precision care in the treatment of pediatric asthma. Curr Opin Pediatr. 2024 06 01; 36(3):304-309.

Walitt B, Singh K, LaMunion SR, Hallett M, Jacobson S, Chen K, Enose-Akahata Y, Apps R, Barb JJ, Bedard P, Brychta RJ, Buckley AW, Burbelo PD, Calco B, Cathay B, Chen L, Chigurupati S, Chen J, Cheung F, Chin LMK, Coleman BW, Courville AB, Deming MS, Drinkard B, Feng LR, Ferrucci L, Gabel SA, Gavin A, Goldstein DS, Hassanzadeh S, Horan SC, Horovitz SG, Johnson KR, Govan AJ, Knutson KM, Kreskow JD, Levin M, Lyons JJ, Madian N, Malik N, Mammen AL, McCulloch JA, McGurrin PM, Milner JD, Moaddel R, Mueller GA, Mukherjee A, Mu?oz-Braceras S, Norato G, Pak K, Pinal-Fernandez I, Popa T, Reoma LB, Sack MN, Safavi F, Saligan LN, Sellers BA, Sinclair S, Smith B, Snow J, Solin S, Stussman BJ, Trinchieri G, Turner SA, Vetter CS, Vial F, Vizioli C, Williams A, Yang SB, Nath A. Deep phenotyping of post-infectious myalgic encephalomyelitis/chronic fatigue syndrome. Nat Commun. 2024 Feb 21; 15(1):907.

Wang P, Xu X, Li M, Lou XY, Xu S, Wu B, Gao G, Yin P, Liu N. Gene-based association tests in family samples using GWAS summary statistics. Genet Epidemiol. 2024 04; 48(3):103-113.

Bayat A, Iavarone S, Miceli F, Jakobsen AV, Johannesen KM, Nikanorova M, Ploski R, Szymanska K, Flamini R, Cooper EC, Weckhuysen S, Taglialatela M, M?ller RS. Phenotypic and functional assessment of two novel KCNQ2 gain-of-function variants Y141N and G239S and effects of amitriptyline treatment. Neurotherapeutics. 2024 Jan; 21(1):e00296.

Duan R, Marafi D, Xia ZJ, Ng BG, Maroofian R, Sumya FT, Saad AK, Du H, Fatih JM, Hunter JV, Elbendary HM, Baig SM, Abdullah U, Ali Z, Efthymiou S, Murphy D, Mitani T, Withers MA, Jhangiani SN, Coban-Akdemir Z, Calame DG, Pehlivan D, Gibbs RA, Posey JE, Houlden H, Lupashin VV, Zaki MS, Freeze HH, Lupski JR. Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking. J Inherit Metab Dis. 2023 11; 46(6):1195-1205.

Barlak N, Kusdemir G, Gumus R, Gundogdu B, Sahin MH, Tatar A, Ittmann M, Karatas OF. Overexpression of POFUT1 promotes malignant phenotype and mediates perineural invasion in head and neck squamous cell carcinoma. Cell Biol Int. 2023 Dec; 47(12):1950-1963.

Novak T, Crawford JC, Hahn G, Hall MW, Thair SA, Newhams MM, Chou J, Mourani PM, Tarquinio KM, Markovitz B, Loftis LL, Weiss SL, Higgerson R, Schwarz AJ, Pinto NP, Thomas NJ, Gedeit RG, Sanders RC, Mahapatra S, Coates BM, Cvijanovich NZ, Ackerman KG, Tellez DW, McQuillen P, Kurachek SC, Shein SL, Lange C, Thomas PG, Randolph AG. Transcriptomic profiles of multiple organ dysfunction syndrome phenotypes in pediatric critical influenza. Front Immunol. 2023; 14:1220028.

Howie EK, Nelson A, McVeigh JA, Andres A. Physical Activity, Sedentary and Sleep Phenotypes in Women During the First Trimester of Pregnancy. Matern Child Health J. 2023 Oct; 27(10):1834-1845.

AlAbdi L, Desbois M, Rusnac DV, Sulaiman RA, Rosenfeld JA, Lalani S, Murdock DR, Burrage LC, Billie Au PY, Towner S, Wilson WG, Wong L, Brunet T, Strobl-Wildemann G, Burton JE, Hoganson G, McWalter K, Begtrup A, Zarate YA, Christensen EL, Opperman KJ, Giles AC, Helaby R, Kania A, Zheng N, Grill B, Alkuraya FS. Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects. Brain. 2023 04 19; 146(4):1373-1387.

Liu J, Mark Park YM, Ma J, Lavie CJ. Trends in Metabolic Phenotypes of Obesity Among US Adolescents, NHANES 1999-2018. Mayo Clin Proc. 2023 04; 98(4):633-636.

Taylor MK, Williams EP, Xue Y, Jenjaroenpun P, Wongsurawat T, Smith AP, Smith AM, Parvathareddy J, Kong Y, Vogel P, Cao X, Reichard W, Spruill-Harrell B, Samarasinghe AE, Nookaew I, Fitzpatrick EA, Smith MD, Aranha M, Smith JC, Jonsson CB. Dissecting Phenotype from Genotype with Clinical Isolates of SARS-CoV-2 First Wave Variants. Viruses. 2023 02 23; 15(3).

Puzyrenko A, Jacobs ER, Padilla N, Devine A, Aljadah M, Gantner BN, Pan AY, Lai S, Dai Q, Rubenstein JC, North PE, Simpson PM, Willoughby RE, O'Meara CC, Flinn MA, Lough JW, Ibrahim EH, Zheng Z, Sun Y, Felix J, Hunt BC, Ross G, Rui H, Benjamin IJ. Collagen-Specific HSP47+ Myofibroblasts and CD163+ Macrophages Identify Profibrotic Phenotypes in Deceased Hearts With SARS-CoV-2 Infections. J Am Heart Assoc. 2023 02 21; 12(4):e027990.

Hiatt SM, Trajkova S, Sebastiano MR, Partridge EC, Abidi FE, Anderson A, Ansar M, Antonarakis SE, Azadi A, Bachmann-Gagescu R, Bartuli A, Benech C, Berkowitz JL, Betti MJ, Brusco A, Cannon A, Caron G, Chen Y, Cochran ME, Coleman TF, Crenshaw MM, Cuisset L, Curry CJ, Darvish H, Demirdas S, Descartes M, Douglas J, Dyment DA, Elloumi HZ, Ermondi G, Faoucher M, Farrow EG, Felker SA, Fisher H, Hurst ACE, Joset P, Kelly MA, Kmoch S, Leadem BR, Lyons MJ, Macchiaiolo M, Magner M, Mandrile G, Mattioli F, McEown M, Meadows SK, Medne L, Meeks NJL, Montgomery S, Napier MP, Natowicz M, Newberry KM, Niceta M, Noskova L, Nowak CB, Noyes AG, Osmond M, Prijoles EJ, Pugh J, Pullano V, Qu?lin C, Rahimi-Aliabadi S, Rauch A, Redon S, Reymond A, Schwager CR, Sellars EA, Scheuerle AE, Shukarova-Angelovska E, Skraban C, Stolerman E, Sullivan BR, Tartaglia M, Thiffault I, Uguen K, Uma?a LA, van Bever Y, van der Crabben SN, van Slegtenhorst MA, Waisfisz Q, Washington C, Rodan LH, Myers RM, Cooper GM. Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype. Am J Hum Genet. 2023 02 02; 110(2):215-227.

Suzuki A, Tillmann H, Williams J, Hauser RG, Frund J, Suzuki M, Prior F, Aithal GP, Lucena MI, Andrade RJ, Tong W, Hunt CM. Assessment of the Frequency, Phenotypes, and Outcomes of Acute Liver Injury Associated with Amoxicillin/Clavulanate in 1.4 Million Patients in the Veterans Health Administration. Drug Saf. 2023 02; 46(2):129-143.

Khatun M, Monir MM, Lou X, Zhu J, Xu H. Genome-wide association studies revealed complex genetic architecture and breeding perspective of maize ear traits. BMC Plant Biol. 2022 Nov 18; 22(1):537.

Govindarajan S, Khandelwal P, Sharma S, Agarwala A, Sinha A, Hari P, Bagga A. Clinical Features and Genetic Sequencing of Children with Fanconi-Bickel Syndrome. Indian J Pediatr. 2023 02; 90(2):178-180.

Mok RSF, Zhang W, Sheikh TI, Pradeepan K, Fernandes IR, DeJong LC, Benigno G, Hildebrandt MR, Mufteev M, Rodrigues DC, Wei W, Piekna A, Liu J, Muotri AR, Vincent JB, Muller L, Martinez-Trujillo J, Salter MW, Ellis J. Wide spectrum of neuronal and network phenotypes in human stem cell-derived excitatory neurons with Rett syndrome-associated MECP2 mutations. Transl Psychiatry. 2022 10 18; 12(1):450.

Helleu Q, Roux C, Ross KG, Keller L. Radiation and hybridization underpin the spread of the fire ant social supergene. Proc Natl Acad Sci U S A. 2022 08 23; 119(34):e2201040119.

Fu FX, Tschitschko B, Hutchins DA, Larsson ME, Baker KG, McInnes A, Kahlke T, Verma A, Murray SA, Doblin MA. Temperature variability interacts with mean temperature to influence the predictability of microbial phenotypes. Glob Chang Biol. 2022 10; 28(19):5741-5754.

Paidi SK, Troncoso JR, Harper MG, Liu Z, Nguyen KG, Ravindranathan S, Rebello L, Lee DE, Ivers JD, Zaharoff DA, Rajaram N, Barman I. Raman spectroscopy reveals phenotype switches in breast cancer metastasis. Theranostics. 2022; 12(12):5351-5363.

Hanna Al-Shaikh R, Milanowski LM, Holla VV, Kurihara K, Yadav R, Kamble N, Muthusamy B, Bellad A, Koziorowski D, Szlufik S, Hoffman-Zacharska D, Fujioka S, Tsuboi Y, Ross OA, Wierenga K, Uitti RJ, Wszolek Z, Pal PK. PLA2G6-associated neurodegeneration in four different populations-case series and literature review. Parkinsonism Relat Disord. 2022 08; 101:66-74.

Bustoros M, Anand S, Sklavenitis-Pistofidis R, Redd R, Boyle EM, Zhitomirsky B, Dunford AJ, Tai YT, Chavda SJ, Boehner C, Neuse CJ, Rahmat M, Dutta A, Casneuf T, Verona R, Kastritis E, Trippa L, Stewart C, Walker BA, Davies FE, Dimopoulos MA, Bergsagel PL, Yong K, Morgan GJ, Aguet F, Getz G, Ghobrial IM. Genetic subtypes of smoldering multiple myeloma are associated with distinct pathogenic phenotypes and clinical outcomes. Nat Commun. 2022 06 15; 13(1):3449.

Landes RD, Glover A, Pillai L, Doerhoff S, Virmani T. Levodopa ONOFF-state freezing of gait: Defining the gait and non-motor phenotype. PLoS One. 2022; 17(6):e0269227.

Howe LJ, Nivard MG, Morris TT, Hansen AF, Rasheed H, Cho Y, Chittoor G, Ahlskog R, Lind PA, Palviainen T, van der Zee MD, Cheesman R, Mangino M, Wang Y, Li S, Klaric L, Ratliff SM, Bielak LF, Nygaard M, Giannelis A, Willoughby EA, Reynolds CA, Balbona JV, Andreassen OA, Ask H, Baras A, Bauer CR, Boomsma DI, Campbell A, Campbell H, Chen Z, Christofidou P, Corfield E, Dahm CC, Dokuru DR, Evans LM, de Geus EJC, Giddaluru S, Gordon SD, Harden KP, Hill WD, Hughes A, Kerr SM, Kim Y, Kweon H, Latvala A, Lawlor DA, Li L, Lin K, Magnus P, Magnusson PKE, Mallard TT, Martikainen P, Mills MC, Nj?lstad PR, Overton JD, Pedersen NL, Porteous DJ, Reid J, Silventoinen K, Southey MC, Stoltenberg C, Tucker-Drob EM, Wright MJ, Hewitt JK, Keller MC, Stallings MC, Lee JJ, Christensen K, Kardia SLR, Peyser PA, Smith JA, Wilson JF, Hopper JL, H?gg S, Spector TD, Pingault JB, Plomin R, Havdahl A, Bartels M, Martin NG, Oskarsson S, Justice AE, Millwood IY, Hveem K, Naess ?, Willer CJ, ?svold BO, Koellinger PD, Kaprio J, Medland SE, Walters RG, Benjamin DJ, Turley P, Evans DM, Davey Smith G, Hayward C, Brumpton B, Hemani G, Davies NM. Within-sibship genome-wide association analyses decrease bias in estimates of direct genetic effects. Nat Genet. 2022 05; 54(5):581-592.

Zarate YA, Morris SA, Blackshare A, Algaze CA, Connor BS, Kim AJ, Yutzey KE, Miller EM, Weaver KN, Collins RT. A clinical scoring system for early onset (neonatal) Marfan syndrome. Genet Med. 2022 07; 24(7):1503-1511.

Sallam A, Eltaher S, Alqudah AM, Belamkar V, Baenziger PS. Combined GWAS and QTL mapping revealed candidate genes and SNP network controlling recovery and tolerance traits associated with drought tolerance in seedling winter wheat. Genomics. 2022 05; 114(3):110358.

Patel RS, Denaxas S, Howe LJ, Eggo RM, Shah AD, Allen NE, Danesh J, Hingorani A, Sudlow C, Hemingway H. Reproducible disease phenotyping at scale: Example of coronary artery disease in UK Biobank. PLoS One. 2022; 17(4):e0264828.

Hermann RP, Rockey DC, Suzuki A, Merz M, Tillmann HL. A novel phenotype-based drug-induced liver injury causality assessment tool (DILI-CAT) allows for signal confirmation in early drug development. Aliment Pharmacol Ther. 2022 04; 55(8):1028-1037.

Torvik FA, Eilertsen EM, Hannigan LJ, Cheesman R, Howe LJ, Magnus P, Reichborn-Kjennerud T, Andreassen OA, Nj?lstad PR, Havdahl A, Ystrom E. Modeling assortative mating and genetic similarities between partners, siblings, and in-laws. Nat Commun. 2022 03 01; 13(1):1108.

Smiech M, Leszczynski P, Wardell C, Poznanski P, Pierzchala M, Taniguchi H. Oncogenic Mutation BRAF V600E Changes Phenotypic Behavior of THLE-2 Liver Cells through Alteration of Gene Expression. Int J Mol Sci. 2022 Jan 28; 23(3).

Singh P, Heer M, Resteu A, Mikulasova A, Reza M, Largeaud L, Dufrechou S, Prade N, Dickinson RE, Bustamante J, Neven B, Bigley V, Delabesse E, Rico D, Pasquet M, Collin M. GATA2 deficiency phenotype associated with tandem duplication of GATA2 and overexpression of GATA2-AS1. Blood Adv. 2021 12 28; 5(24):5631-5635.

Avalos DJ, Satiya J, Contreras A, Trivedi S, Alvarado L, Dodoo C, Dwivedi AK, Zuckerman MJ. Latin Americans and US Hispanics show differences in IBD phenotype: a systematic review with meta-analysis. J Investig Med. 2022 04; 70(4):919-933.

Rom JS, Beenken KE, Ramirez AM, Walker CM, Echols EJ, Smeltzer MS. Limiting protease production plays a key role in the pathogenesis of the divergent clinical isolates of Staphylococcus aureus LAC and UAMS-1. Virulence. 2021 12; 12(1):584-600.

Minatogawa M, Unzaki A, Morisaki H, Syx D, Sonoda T, Janecke AR, Slavotinek A, Voermans NC, Lacassie Y, Mendoza-Londono R, Wierenga KJ, Jayakar P, Gahl WA, Tifft CJ, Figuera LE, Hilhorst-Hofstee Y, Maugeri A, Ishikawa K, Kobayashi T, Aoki Y, Ohura T, Kawame H, Kono M, Mochida K, Tokorodani C, Kikkawa K, Morisaki T, Kobayashi T, Nakane T, Kubo A, Ranells JD, Migita O, Sobey G, Kaur A, Ishikawa M, Yamaguchi T, Matsumoto N, Malfait F, Miyake N, Kosho T. Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14). J Med Genet. 2022 Sep; 59(9):865-877.

Srinivasan P, Bandlamudi C, Jonsson P, Kemel Y, Chavan SS, Richards AL, Penson AV, Bielski CM, Fong C, Syed A, Jayakumaran G, Prasad M, Hwee J, Sumer SO, de Bruijn I, Li X, Gao J, Schultz N, Cambria R, Galle J, Mukherjee S, Vijai J, Cadoo KA, Carlo MI, Walsh MF, Mandelker D, Ceyhan-Birsoy O, Shia J, Zehir A, Ladanyi M, Hyman DM, Zhang L, Offit K, Robson ME, Solit DB, Stadler ZK, Berger MF, Taylor BS. The context-specific role of germline pathogenicity in tumorigenesis. Nat Genet. 2021 11; 53(11):1577-1585.

Nellis M, Caperton CO, Liu K, Tran V, Go YM, Hallberg LM, Ameredes BT, Jones DP, Boysen G. Lung metabolome of 1,3-butadiene exposed Collaborative Cross mice reflects metabolic phenotype of human lung cancer. Toxicology. 2021 11; 463:152987.

Widiapradja A, Kasparian AO, McCaffrey SL, Kolb LL, Imig JD, Lacey JL, Melendez GC, Levick SP. Replacement of Lost Substance P Reduces Fibrosis in the Diabetic Heart by Preventing Adverse Fibroblast and Macrophage Phenotype Changes. Cells. 2021 10 05; 10(10).

Muthusamy K, Ferrer A, Klee EW, Wierenga KJ, Gavrilova RH. Clinicoradiographic and genetic features of cerebral small vessel disease indicate variability in mode of inheritance for monoallelic HTRA1 variants. Mol Genet Genomic Med. 2021 10; 9(10):e1799.

Alhallak I, Wolter KG, Castro Munoz A, Simmen FA, Ward RJ, Petty SA, Li LX, Simmen RCM. Breast adipose regulation of premenopausal breast epithelial phenotype involves interleukin 10. J Mol Endocrinol. 2021 09 09; 67(4):173-188.

Binaafar S, Garshasbi M, Tavasoli AR, Badv RS, Hosseiny SMM, Samanta D, Rabbani B, Mahdieh N. Nonsyndromic Early-Onset Epileptic Encephalopathies: Two Novel KCTD7 Pathogenic Variants and a Literature Review. Dev Neurosci. 2021; 43(6):348-357.

Ezzelarab MB, Zhang H, Sasaki K, Lu L, Zahorchak AF, van der Windt DJ, Dai H, Perez-Gutierrez A, Bhama JK, Thomson AW. Ex Vivo Expanded Donor Alloreactive Regulatory T Cells Lose Immunoregulatory, Proliferation, and Antiapoptotic Markers After Infusion Into ATG-lymphodepleted, Nonhuman Primate Heart Allograft Recipients. Transplantation. 2021 09 01; 105(9):1965-1979.

Matsumoto T, Oda Y, Hasegawa Y, Hashimura M, Oguri Y, Inoue H, Yokoi A, Tochimoto M, Nakagawa M, Jiang Z, Saegusa M. Anaplastic Lymphoma Kinase Overexpression Is Associated with Aggressive Phenotypic Characteristics of Ovarian High-Grade Serous Carcinoma. Am J Pathol. 2021 10; 191(10):1837-1850.

Mohsin SS, Abbas Q, Chowdhary D, Khalid F, Sheikh AS, Ali Khan ZG, Aslam N, Bhatti OA, Inam M, Saleem AF, Bhutta AT. Multisystem inflammatory syndrome (MIS-C) in Pakistani children: A description of the phenotypes and comparison with historical cohorts of children with Kawasaki disease and myocarditis. PLoS One. 2021; 16(6):e0253625.

Fowlkes JL, Thrailkill KM, Bunn RC. RASopathies: The musculoskeletal consequences and their etiology and pathogenesis. Bone. 2021 11; 152:116060.

Ono-Moore KD, Olfert IM, Rutkowsky JM, Chintapalli SV, Willis BJ, Blackburn ML, Williams DK, O'Reilly J, Tolentino T, Lloyd KCK, Adams SH. Metabolic physiology and skeletal muscle phenotypes in male and female myoglobin knockout mice. Am J Physiol Endocrinol Metab. 2021 07 01; 321(1):E63-E79.

Zarate YA, Bosanko KA, Caffrey AR. SATB2-associated syndrome in adolescents and adults. Am J Med Genet A. 2021 08; 185(8):2391-2398.

Voisin N, Schnur RE, Douzgou S, Hiatt SM, Rustad CF, Brown NJ, Earl DL, Keren B, Levchenko O, Geuer S, Verheyen S, Johnson D, Zarate YA, Hanc?rov? M, Amor DJ, Bebin EM, Blatterer J, Brusco A, Cappuccio G, Charrow J, Chatron N, Cooper GM, Courtin T, Dadali E, Delafontaine J, Del Giudice E, Doco M, Douglas G, Eisenk?lbl A, Funari T, Giannuzzi G, Gruber-Sedlmayr U, Guex N, Heron D, Holla ?L, Hurst ACE, Juusola J, Kronn D, Lavrov A, Lee C, Lorrain S, Merckoll E, Mikhaleva A, Norman J, Pradervand S, Prchalov? D, Rhodes L, Sanders VR, Sedl?cek Z, Seebacher HA, Sellars EA, Sirchia F, Takenouchi T, Tanaka AJ, Taska-Tench H, T?nne E, Tveten K, Vitiello G, Vlckov? M, Uehara T, Nava C, Yalcin B, Kosaki K, Donnai D, Mundlos S, Brunetti-Pierri N, Chung WK, Reymond A. Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy. Am J Hum Genet. 2021 05 06; 108(5):857-873.

Gianferante MD, Wlodarski MW, Atsidaftos E, Da Costa L, Delaporta P, Farrar JE, Goldman FD, Hussain M, Kattamis A, Leblanc T, Lipton JM, Niemeyer CM, Pospisilova D, Quarello P, Ramenghi U, Sankaran VG, Vlachos A, Volejnikova J, Alter BP, Savage SA, Giri N. Genotype-phenotype association and variant characterization in Diamond-Blackfan anemia caused by pathogenic variants in RPL35A. Haematologica. 2021 05 01; 106(5):1303-1310.

Sharkey CM, Mullins LL, Clawson AH, Gioia A, Hawkins MAW, Chaney JM, Walsh KS, Hardy KK. Assessing neuropsychological phenotypes of pediatric brain tumor survivors. Psychooncology. 2021 08; 30(8):1366-1374.

Boets S, Johannesen KM, Destree A, Manti F, Ramantani G, Lesca G, Vercueil L, Koenig MK, Striano P, M?ller RS, Cooper E, Weckhuysen S. Adult phenotype of KCNQ2 encephalopathy. J Med Genet. 2022 06; 59(6):528-535.

Walworth NG, Lee MD, Dolzhenko E, Fu FX, Smith AD, Webb EA, Hutchins DA. Long-Term m5C Methylome Dynamics Parallel Phenotypic Adaptation in the Cyanobacterium Trichodesmium. Mol Biol Evol. 2021 03 09; 38(3):927-939.

Patel J, Bircan E, Tang X, Orloff M, Hobbs CA, Browne ML, Botto LD, Finnell RH, Jenkins MM, Olshan A, Romitti PA, Shaw GM, Werler MM, Li J, Nembhard WN. Paternal genetic variants and risk of obstructive heart defects: A parent-of-origin approach. PLoS Genet. 2021 03; 17(3):e1009413.

Bonfante B, Faux P, Navarro N, Mendoza-Revilla J, Dubied M, Montillot C, Wentworth E, Poloni L, Var?n-Gonz?lez C, Jones P, Xiong Z, Fuentes-Guajardo M, Palmal S, Chac?n-Duque JC, Hurtado M, Villegas V, Granja V, Jaramillo C, Arias W, Barquera R, Everardo-Mart?nez P, S?nchez-Quinto M, G?mez-Vald?s J, Villamil-Ram?rez H, Silva de Cerqueira CC, H?nemeier T, Ramallo V, Liu F, Weinberg SM, Shaffer JR, Stergiakouli E, Howe LJ, Hysi PG, Spector TD, Gonzalez-Jos? R, Sch?ler-Faccini L, Bortolini MC, Acu?a-Alonzo V, Canizales-Quinteros S, Gallo C, Poletti G, Bedoya G, Rothhammer F, Thauvin-Robinet C, Faivre L, Costedoat C, Balding D, Cox T, Kayser M, Duplomb L, Yalcin B, Cotney J, Adhikari K, Ruiz-Linares A. A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation. Sci Adv. 2021 02; 7(6).

Tyson GH, Ceric O, Guag J, Nemser S, Borenstein S, Slavic D, Lippert S, McDowell R, Krishnamurthy A, Korosec S, Friday C, Pople N, Saab ME, Fairbrother JH, Janelle I, McMillan D, Bommineni YR, Simon D, Mohan S, Sanchez S, Phillips A, Bartlett P, Naikare H, Watson C, Sahin O, Stinman C, Wang L, Maddox C, DeShambo V, Hendrix K, Lubelski D, Burklund A, Lubbers B, Reed D, Jenkins T, Erol E, Patel M, Locke S, Fortner J, Peak L, Balasuriya U, Mani R, Kettler N, Olsen K, Zhang S, Shen Z, Landinez MP, Thornton JK, Thachil A, Byrd M, Jacob M, Krogh D, Webb B, Schaan L, Patil A, Dasgupta S, Mann S, Goodman LB, Franklin-Guild RJ, Anderson RR, Mitchell PK, Cronk BD, Aprea M, Cui J, Jurkovic D, Prarat M, Zhang Y, Shiplett K, Campos DD, Rubio JVB, Ramanchandran A, Talent S, Tewari D, Thirumalapura N, Kelly D, Barnhart D, Hall L, Rankin S, Dietrich J, Cole S, Scaria J, Antony L, Lawhon SD, Wu J, McCoy C, Dietz K, Wolking R, Alexander T, Burbick C, Reimschuessel R. Genomics accurately predicts antimicrobial resistance in Staphylococcus pseudintermedius collected as part of Vet-LIRN resistance monitoring. Vet Microbiol. 2021 Mar; 254:109006.

Guo Y, He X, Lyu T, Zhang H, Wu Y, Yang X, Chen Z, Markham MJ, Modave F, Xie M, Hogan W, Harle CA, Shenkman EA, Bian J. Developing and Validating a Computable Phenotype for the Identification of Transgender and Gender Nonconforming Individuals and Subgroups. AMIA Annu Symp Proc. 2020; 2020:514-523.

Zarate YA, Bosanko KA, Thomas MA, Miller DT, Cusmano-Ozog K, Martinez-Monseny A, Curry CJ, Graham JM, Velsher L, Bekheirnia MR, Seidel V, Dedousis D, Mitchell AL, DiMarino AM, Riess A, Balasubramanian M, Fish JL, Caffrey AR, Fleischer N, Pierson TM, Lacro RV. Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2. Clin Genet. 2021 04; 99(4):547-557.

Biesecker LG, Adam MP, Alkuraya FS, Amemiya AR, Bamshad MJ, Beck AE, Bennett JT, Bird LM, Carey JC, Chung B, Clark RD, Cox TC, Curry C, Dinulos MBP, Dobyns WB, Giampietro PF, Girisha KM, Glass IA, Graham JM, Gripp KW, Haldeman-Englert CR, Hall BD, Innes AM, Kalish JM, Keppler-Noreuil KM, Kosaki K, Kozel BA, Mirzaa GM, Mulvihill JJ, Nowaczyk MJM, Pagon RA, Retterer K, Rope AF, Sanchez-Lara PA, Seaver LH, Shieh JT, Slavotinek AM, Sobering AK, Stevens CA, Stevenson DA, Tan TY, Tan WH, Tsai AC, Weaver DD, Williams MS, Zackai E, Zarate YA. A dyadic approach to the delineation of diagnostic entities in clinical genomics. Am J Hum Genet. 2021 01 07; 108(1):8-15.

Dunn S, Hilgers RH, Das KC. Thioredoxin deficiency exacerbates vascular dysfunction during diet-induced obesity in small mesenteric artery in mice. Microcirculation. 2021 05; 28(4):e12674.

Brandkvist M, Bj?rngaard JH, ?deg?rd RA, Brumpton B, Smith GD, ?svold BO, Sund ER, Kval?y K, Willer CJ, Vie G?. Genetic associations with temporal shifts in obesity and severe obesity during the obesity epidemic in Norway: A longitudinal population-based cohort (the HUNT Study). PLoS Med. 2020 12; 17(12):e1003452.

Kl?ckner C, Sticht H, Zacher P, Popp B, Babcock HE, Bakker DP, Barwick K, Bonfert MV, B?nnemann CG, Brilstra EH, Chung WK, Clarke AJ, Devine P, Donkervoort S, Fraser JL, Friedman J, Gates A, Ghoumid J, Hobson E, Horvath G, Keller-Ramey J, Keren B, Kurian MA, Lee V, Leppig KA, Lundgren J, McDonald MT, McLaughlin HM, McTague A, Mefford HC, Mignot C, Mikati MA, Nava C, Raymond FL, Sampson JR, Sanchis-Juan A, Shashi V, Shieh JTC, Shinawi M, Slavotinek A, St?dberg T, Stong N, Sullivan JA, Taylor AC, Toler TL, van den Boogaard MJ, van der Crabben SN, van Gassen KLI, van Jaarsveld RH, Van Ziffle J, Wadley AF, Wagner M, Wigby K, Wortmann SB, Zarate YA, M?ller RS, Lemke JR, Platzer K. De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy. Genet Med. 2021 04; 23(4):653-660.

Yehya N, Varisco BM, Thomas NJ, Wong HR, Christie JD, Feng R. Peripheral blood transcriptomic sub-phenotypes of pediatric acute respiratory distress syndrome. Crit Care. 2020 12 07; 24(1):681.

Ramirez AM, Beenken KE, Byrum SD, Tackett AJ, Shaw LN, Gimza BD, Smeltzer MS. SarA plays a predominant role in controlling the production of extracellular proteases in the diverse clinical isolates of Staphylococcus aureus LAC and UAMS-1. Virulence. 2020 12; 11(1):1738-1762.

Seu KG, Trump LR, Emberesh S, Lorsbach RB, Johnson C, Meznarich J, Underhill HR, Chou ST, Sakthivel H, Nassar NN, Seu KJ, Blanc L, Zhang W, Lutzko CM, Kalfa TA. VPS4A Mutations in Humans Cause Syndromic Congenital Dyserythropoietic Anemia due to Cytokinesis and Trafficking Defects. Am J Hum Genet. 2020 12 03; 107(6):1149-1156.

Guo H, Zhang Q, Dai R, Yu B, Hoekzema K, Tan J, Tan S, Jia X, Chung WK, Hernan R, Alkuraya FS, Alsulaiman A, Al-Muhaizea MA, Lesca G, Pons L, Labalme A, Laux L, Bryant E, Brown NJ, Savva E, Ayres S, Eratne D, Peeters H, Bilan F, Letienne-Cejudo L, Gilbert-Dussardier B, Ruiz-Arana IL, Merlini JM, Boizot A, Bartoloni L, Santoni F, Karlowicz D, McDonald M, Wu H, Hu Z, Chen G, Ou J, Brasch-Andersen C, Fagerberg CR, Dreyer I, Chun-Hui Tsai A, Slegesky V, McGee RB, Daniels B, Sellars EA, Carpenter LA, Schaefer B, Sacoto MJG, Begtrup A, Schnur RE, Punj S, Wentzensen IM, Rhodes L, Pan Q, Bernier RA, Chen C, Eichler EE, Xia K. NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism. Am J Hum Genet. 2020 11 05; 107(5):963-976.

Klee EW, Cousin MA, Pinto E Vairo F, Morales-Rosado JA, Macke EL, Jenkinson WG, Ferrer A, Schultz-Rogers LE, Olson RJ, Oliver GR, Sigafoos AN, Schwab TL, Zimmermann MT, Urrutia RA, Kaiwar C, Gupta A, Blackburn PR, Boczek NJ, Prochnow CA, Lowy RJ, Mulvihill LA, McAllister TM, Aoudia SL, Kruisselbrink TM, Gunderson LB, Kemppainen JL, Fisher LJ, Tarnowski JM, Hager MM, Kroc SA, Bertsch NL, Agre KE, Jackson JL, Macklin-Mantia SK, Murphree MI, Rust LM, Summer Bolster JM, Beck SA, Atwal PS, Ellingson MS, Barnett SS, Rasmussen KJ, Lahner CA, Niu Z, Hasadsri L, Ferber MJ, Marcou CA, Clark KJ, Pichurin PN, Deyle DR, Morava-Kozicz E, Gavrilova RH, Dhamija R, Wierenga KJ, Lanpher BC, Babovic-Vuksanovic D, Farrugia G, Schimmenti LA, Stewart AK, Lazaridis KN. Impact of integrated translational research on clinical exome sequencing. Genet Med. 2021 03; 23(3):498-507.

Verberne EA, Goh S, England J, van Ginkel M, Rafael-Croes L, Maas S, Polstra A, Zarate YA, Bosanko KA, Pechter KB, Bedoukian E, Izumi K, Chaudhry A, Robin NH, Boothe M, Lippa NC, Aggarwal V, De Vivo DC, Lehman A, Study C, Stockler S, Bruel AL, Isidor B, Lemons J, Rodriguez-Buritica DF, Richmond CM, Stark Z, Agrawal PB, Kooy RF, Meuwissen MEC, Koolen DA, Pfundt R, Lieden A, Anderlid BM, Glatz D, Mannens MMAM, Bakshi M, Mallette FA, van Haelst MM, Campeau PM. JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome. Genet Med. 2021 02; 23(2):374-383.

Chen J, Yuan X, Pilawski I, Liu X, Delgado-Calle J, Bellido T, Turkkahraman H, Helms JA. Molecular Basis for Craniofacial Phenotypes Caused by Sclerostin Deletion. J Dent Res. 2021 03; 100(3):310-317.

Goodman SH, Liu R, Lusby CM, Park JS, Bell MA, Newport DJ, Stowe ZN. Consistency of EEG asymmetry patterns in infants of depressed mothers. Dev Psychobiol. 2021 05; 63(4):768-781.

Fertan E, Wong AA, Purdon MK, Weaver ICG, Brown RE. The effect of background strain on the behavioral phenotypes of the MDGA2+/- mouse model of autism spectrum disorder. Genes Brain Behav. 2021 03; 20(3):e12696.

Plotkin M, O'Brien CA, Goellner J, Williams J, Carter W, Sharma S, Stone A. A Uromodulin Mutation Drives Autoimmunity and Kidney Mononuclear Phagocyte Endoplasmic Reticulum Stress. Am J Pathol. 2020 12; 190(12):2436-2452.

McDonough CW, Babcock K, Chucri K, Crawford DC, Bian J, Modave F, Cooper-DeHoff RM, Hogan WR. Optimizing identification of resistant hypertension: Computable phenotype development and validation. Pharmacoepidemiol Drug Saf. 2020 11; 29(11):1393-1401.

Khalifa OA, Imtiaz F, Ramzan K, Zaki O, Gamal R, Elbaik L, Rihan S, Salam E, Abdul-Mawgoud R, Hassan M, Hassan N, Saleh E, Seoudi D, Moustafa AS. Genotype-phenotype correlation of 33 patients with maple syrup urine disease. Am J Med Genet A. 2020 11; 182(11):2486-2500.

Silvestri V, Leslie G, Barnes DR, Agnarsson BA, Aittom?ki K, Alducci E, Andrulis IL, Barkardottir RB, Barroso A, Barrowdale D, Benitez J, Bonanni B, Borg A, Buys SS, Cald?s T, Caligo MA, Capalbo C, Campbell I, Chung WK, Claes KBM, Colonna SV, Cortesi L, Couch FJ, de la Hoya M, Diez O, Ding YC, Domchek S, Easton DF, Ejlertsen B, Engel C, Evans DG, Feliubadal? L, Foretova L, Fostira F, G?czi L, Gerdes AM, Glendon G, Godwin AK, Goldgar DE, Hahnen E, Hogervorst FBL, Hopper JL, Hulick PJ, Isaacs C, Izquierdo A, James PA, Janavicius R, Jensen UB, John EM, Joseph V, Konstantopoulou I, Kurian AW, Kwong A, Landucci E, Lesueur F, Loud JT, Machackova E, Mai PL, Majidzadeh-A K, Manoukian S, Montagna M, Moserle L, Mulligan AM, Nathanson KL, Nevanlinna H, Ngeow J, Nikitina-Zake L, Offit K, Olah E, Olopade OI, Osorio A, Papi L, Park SK, Pedersen IS, Perez-Segura P, Petersen AH, Pinto P, Porfirio B, Pujana MA, Radice P, Rantala J, Rashid MU, Rosenzweig B, Rossing M, Santamari?a M, Schmutzler RK, Senter L, Simard J, Singer CF, Solano AR, Southey MC, Steele L, Steinsnyder Z, Stoppa-Lyonnet D, Tan YY, Teixeira MR, Teo SH, Terry MB, Thomassen M, Toland AE, Torres-Esquius S, Tung N, van Asperen CJ, Vega A, Viel A, Vierstraete J, Wappenschmidt B, Weitzel JN, Wieme G, Yoon SY, Zorn KK, McGuffog L, Parsons MT, Hamann U, Greene MH, Kirk JA, Neuhausen SL, Rebbeck TR, Tischkowitz M, Chenevix-Trench G, Antoniou AC, Friedman E, Ottini L. Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). JAMA Oncol. 2020 08 01; 6(8):1218-1230.

Riley LG, Rudinger-Thirion J, Frugier M, Wilson M, Luig M, Alahakoon TI, Nixon CY, Kirk EP, Roscioli T, Lunke S, Stark Z, Wierenga KJ, Palle S, Walsh M, Higgs E, Arbuckle S, Thirukeswaran S, Compton AG, Thorburn DR, Christodoulou J. The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy. Hum Mutat. 2020 08; 41(8):1425-1434.

Howe LJ, Hemani G, Lesseur C, Gaborieau V, Ludwig KU, Mangold E, Brennan P, Ness AR, St Pourcain B, Davey Smith G, Lewis SJ. Evaluating shared genetic influences on nonsyndromic cleft lip/palate and oropharyngeal neoplasms. Genet Epidemiol. 2020 11; 44(8):924-933.

Saben JL, Abraham A, Bode L, Sims CR, Andres A. Third-Trimester Glucose Homeostasis in Healthy Women Is Differentially Associated with Human Milk Oligosaccharide Composition at 2 Months Postpartum by Secretor Phenotype. Nutrients. 2020 Jul 24; 12(8).

Manresa MC, Chiang AWT, Kurten RC, Dohil R, Brickner H, Dohil L, Herro R, Akuthota P, Lewis NE, Croft M, Aceves SS. Increased Production of LIGHT by T Cells in Eosinophilic Esophagitis Promotes Differentiation of Esophageal Fibroblasts Toward an Inflammatory Phenotype. Gastroenterology. 2020 11; 159(5):1778-1792.e13.

Xu T, Monir MM, Lou XY, Xu H, Zhu J. Conditional and unconditional genome-wide association study reveal complicate genetic architecture of human body weight and impacts of smoking. Sci Rep. 2020 07 22; 10(1):12136.

Gonzalez Garcia A, Malone J, Li H. A novel mosaic variant on SMC1A reported in buccal mucosa cells, albeit not in blood, of a patient with Cornelia de Lange-like presentation. Cold Spring Harb Mol Case Stud. 2020 06; 6(3).

Huckfeldt RM, Grigorian F, Place E, Comander JI, Vavvas D, Young LH, Yang P, Shurygina M, Pierce EA, Pennesi ME. Biallelic RP1-associated retinal dystrophies: Expanding the mutational and clinical spectrum. Mol Vis. 2020; 26:423-433.

Malatesta L, Arya K, Gokden M, Stefans V, Veerapandiyan A. BAG3 Myopathy Presenting With Prominent Neuropathic Phenotype and No Cardiac or Respiratory Involvement: A Case Report and Literature Review. J Clin Neuromuscul Dis. 2020 Jun; 21(4):230-239.

Fowlkes JL, Clay Bunn R, Kalaitzoglou E, Ray P, Popescu I, Thrailkill KM. Postnatal loss of the insulin receptor in osteoprogenitor cells does not impart a metabolic phenotype. Sci Rep. 2020 06 01; 10(1):8842.

Liu Z, Anderson JD, Deng L, Mackay S, Bailey J, Kersh L, Rowe SM, Guimbellot JS. Human Nasal Epithelial Organoids for Therapeutic Development in Cystic Fibrosis. Genes (Basel). 2020 05 29; 11(6).

Kosmac K, Gonzalez-Freire M, McDermott MM, White SH, Walton RG, Sufit RL, Tian L, Li L, Kibbe MR, Criqui MH, Guralnik JM, S Polonsky T, Leeuwenburgh C, Ferrucci L, Peterson CA. Correlations of Calf Muscle Macrophage Content With Muscle Properties and Walking Performance in Peripheral Artery Disease. J Am Heart Assoc. 2020 05 18; 9(10):e015929.

Shah RB, Stohr BA, Tu ZJ, Gao Y, Przybycin CG, Nguyen J, Cox RM, Rashid-Kolvear F, Weindel MD, Farkas DH, Trpkov K, McKenney JK. "Renal Cell Carcinoma With Leiomyomatous Stroma" Harbor Somatic Mutations of TSC1, TSC2, MTOR, and/or ELOC (TCEB1): Clinicopathologic and Molecular Characterization of 18 Sporadic Tumors Supports a Distinct Entity. Am J Surg Pathol. 2020 05; 44(5):571-581.

Lowery RS, Dehnel JR, Schaefer GB, Uwaydat SH. Rates of diagnostic genetic testing in a tertiary ocular genetics clinic. Ophthalmic Genet. 2020 06; 41(3):271-274.

Jagosky MH, Usmani SZ. Extramedullary Disease in Multiple Myeloma. Curr Hematol Malig Rep. 2020 04; 15(2):62-71.

Xu H, Lenhart SA, Chu EY, Chavez MB, Wimer HF, Dimori M, Somerman MJ, Morello R, Foster BL, Hatch NE. Dental and craniofacial defects in the Crtap-/- mouse model of osteogenesis imperfecta type VII. Dev Dyn. 2020 07; 249(7):884-897.

Cruthirds CL, van der Meij BS, Wierzchowska-McNew A, Deutz NEP, Engelen MPKJ. Presence or Absence of Skeletal Muscle Dysfunction in Chronic Obstructive Pulmonary Disease is Associated With Distinct Phenotypes. Arch Bronconeumol (Engl Ed). 2021 Apr; 57(4):264-272.

Ahsan B, Aldwaikat A, Aboud O, Ramadan A, Abu-Asab MS. Retinal and choroidal capillaries contribution to age-related macular degeneration (AMD) phenotypes in murine models of the disease. Ultrastruct Pathol. 2020 Mar 03; 44(2):174-181.

Rom JS, Ramirez AM, Beenken KE, Sahukhal GS, Elasri MO, Smeltzer MS. The Impacts of msaABCR on sarA-Associated Phenotypes Are Different in Divergent Clinical Isolates of Staphylococcus aureus. Infect Immun. 2020 01 22; 88(2).

Yan Z, Martin SH, Gotzek D, Arsenault SV, Duchen P, Helleu Q, Riba-Grognuz O, Hunt BG, Salamin N, Shoemaker D, Ross KG, Keller L. Evolution of a supergene that regulates a trans-species social polymorphism. Nat Ecol Evol. 2020 02; 4(2):240-249.

Sun CW, Grossman SK, Valdes-Rodriguez R, Lee JB, Hsu S. Guttate leukoderma and acrokeratosis verruciformis of Hopf: a rare combination in Darier disease. Dermatol Online J. 2020 Jan 15; 26(1).

Zhao Y, Diacou A, Johnston HR, Musfee FI, McDonald-McGinn DM, McGinn D, Crowley TB, Repetto GM, Swillen A, Breckpot J, Vermeesch JR, Kates WR, Digilio MC, Unolt M, Marino B, Pontillo M, Armando M, Di Fabio F, Vicari S, van den Bree M, Moss H, Owen MJ, Murphy KC, Murphy CM, Murphy D, Schoch K, Shashi V, Tassone F, Simon TJ, Shprintzen RJ, Campbell L, Philip N, Heine-Su?er D, Garc?a-Mi?a?r S, Fern?ndez L, Bearden CE, Vingerhoets C, van Amelsvoort T, Eliez S, Schneider M, Vorstman JAS, Gothelf D, Zackai E, Agopian AJ, Gur RE, Bassett AS, Emanuel BS, Goldmuntz E, Mitchell LE, Wang T, Morrow BE. Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects. Am J Hum Genet. 2020 01 02; 106(1):26-40.

Assia Batzir N, Kishor Bhagwat P, Larson A, Coban Akdemir Z, Baglaj M, Bofferding L, Bosanko KB, Bouassida S, Callewaert B, Cannon A, Enchautegui Colon Y, Garnica AD, Harr MH, Heck S, Hurst ACE, Jhangiani SN, Isidor B, Littlejohn RO, Liu P, Magoulas P, Mar Fan H, Marom R, McLean S, Nezarati MM, Nugent KM, Petersen MB, Rocha ML, Roeder E, Smigiel R, Tully I, Weisfeld-Adams J, Wells KO, Posey JE, Lupski JR, Beaudet AL, Wangler MF. Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy. Hum Mutat. 2020 03; 41(3):641-654.

Qiao C, Richter GT, Pan W, Jin Y, Lin X. Extracranial arteriovenous malformations: from bedside to bench. Mutagenesis. 2019 12 19; 34(4):299-306.

Wang L, Xu F, Brickell A, Sun N, Mao X, Zhang Q, Wang G, Zhou Q, Yang B, Li F, Yue L, Zhang W, Hao Y, Sun C. Additional common loci associated with stroke and obesity identified using pleiotropic analytical approach. Mol Genet Genomics. 2020 Mar; 295(2):439-451.

Chakraborty G, Armenia J, Mazzu YZ, Nandakumar S, Stopsack KH, Atiq MO, Komura K, Jehane L, Hirani R, Chadalavada K, Yoshikawa Y, Khan NA, Chen Y, Abida W, Mucci LA, Lee GM, Nanjangud GJ, Kantoff PW. Significance of BRCA2 and RB1 Co-loss in Aggressive Prostate Cancer Progression. Clin Cancer Res. 2020 04 15; 26(8):2047-2064.

Storey AJ, Wang HP, Protacio RU, Davidson MK, Wahls WP. Targeted Forward Genetics: Population-Scale Analyses of Allele Replacements Spanning Thousands of Base Pairs in Fission Yeast. G3 (Bethesda). 2019 12 03; 9(12):4097-4106.

Denaxas S, Gonzalez-Izquierdo A, Direk K, Fitzpatrick NK, Fatemifar G, Banerjee A, Dobson RJB, Howe LJ, Kuan V, Lumbers RT, Pasea L, Patel RS, Shah AD, Hingorani AD, Sudlow C, Hemingway H. UK phenomics platform for developing and validating electronic health record phenotypes: CALIBER. J Am Med Inform Assoc. 2019 12 01; 26(12):1545-1559.

Wang J, Rousseau J, Kim E, Ehresmann S, Cheng YT, Duraine L, Zuo Z, Park YJ, Li-Kroeger D, Bi W, Wong LJ, Rosenfeld J, Gleeson J, Faqeih E, Alkuraya FS, Wierenga KJ, Chen J, Afenjar A, Nava C, Doummar D, Keren B, Juusola J, Grompe M, Bellen HJ, Campeau PM. Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction. Am J Hum Genet. 2019 12 05; 105(6):1237-1253.

Xiong Z, Dankova G, Howe LJ, Lee MK, Hysi PG, de Jong MA, Zhu G, Adhikari K, Li D, Li Y, Pan B, Feingold E, Marazita ML, Shaffer JR, McAloney K, Xu SH, Jin L, Wang S, de Vrij FM, Lendemeijer B, Richmond S, Zhurov A, Lewis S, Sharp GC, Paternoster L, Thompson H, Gonzalez-Jose R, Bortolini MC, Canizales-Quinteros S, Gallo C, Poletti G, Bedoya G, Rothhammer F, Uitterlinden AG, Ikram MA, Wolvius E, Kushner SA, Nijsten TE, Palstra RT, Boehringer S, Medland SE, Tang K, Ruiz-Linares A, Martin NG, Spector TD, Stergiakouli E, Weinberg SM, Liu F, Kayser M. Novel genetic loci affecting facial shape variation in humans. Elife. 2019 11 26; 8.

Uawisetwathana U, Chevallier OP, Xu Y, Kamolsukyeunyong W, Nookaew I, Somboon T, Toojinda T, Vanavichit A, Goodacre R, Elliott CT, Karoonuthaisiri N. Global metabolite profiles of rice brown planthopper-resistant traits reveal potential secondary metabolites for both constitutive and inducible defenses. Metabolomics. 2019 11 19; 15(12):151.

Howe LJ, Lawson DJ, Davies NM, St Pourcain B, Lewis SJ, Davey Smith G, Hemani G. Genetic evidence for assortative mating on alcohol consumption in the UK Biobank. Nat Commun. 2019 11 19; 10(1):5039.

Hijazi H, Coelho FS, Gonzaga-Jauregui C, Bernardini L, Mar SS, Manning MA, Hanson-Kahn A, Naidu S, Srivastava S, Lee JA, Jones JR, Friez MJ, Alberico T, Torres B, Fang P, Cheung SW, Song X, Davis-Williams A, Jornlin C, Wight PA, Patyal P, Taube J, Poretti A, Inoue K, Zhang F, Pehlivan D, Carvalho CMB, Hobson GM, Lupski JR. Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome. Hum Mutat. 2020 01; 41(1):150-168.

Post GR, Yuan Y, Holthoff ER, Quick CM, Post SR. Identification of a novel monocytic phenotype in Classic Hodgkin Lymphoma tumor microenvironment. PLoS One. 2019; 14(11):e0224621.

Ford BM, Roberts JD. Functional traits reveal the presence and nature of multiple processes in the assembly of marine fish communities. Oecologia. 2020 Jan; 192(1):143-154.

Suva LJ, Westhusin ME, Long CR, Gaddy D. Engineering bone phenotypes in domestic animals: Unique resources for enhancing musculoskeletal research. Bone. 2020 01; 130:115119.

Fowlkes JL, Bunn RC, Ray PD, Kalaitzoglou E, Uppuganti S, Unal M, Nyman JS, Thrailkill KM. Constitutive activation of MEK1 in osteoprogenitors increases strength of bone despite impairing mineralization. Bone. 2020 01; 130:115106.

Sanson MA, Macias OR, Shah BJ, Hanson B, Vega LA, Alamarat Z, Flores AR. Unexpected relationships between frequency of antimicrobial resistance, disease phenotype and emm type in group A Streptococcus. Microb Genom. 2019 11; 5(11).

Murray GP, Post SR, Post GR. ABO blood group is a determinant of von Willebrand factor protein levels in human pulmonary endothelial cells. J Clin Pathol. 2020 Jun; 73(6):347-349.

Koczkowska M, Callens T, Chen Y, Gomes A, Hicks AD, Sharp A, Johns E, Uhas KA, Armstrong L, Bosanko KA, Babovic-Vuksanovic D, Baker L, Basel DG, Bengala M, Bennett JT, Chambers C, Clarkson LK, Clementi M, Cort?s FM, Cunningham M, D'Agostino MD, Delatycki MB, Digilio MC, Dosa L, Esposito S, Fox S, Freckmann ML, Fauth C, Giugliano T, Giustini S, Goetsch A, Goldberg Y, Greenwood RS, Griffis C, Gripp KW, Gupta P, Haan E, Hachen RK, Haygarth TL, Hern?ndez-Chico C, Hodge K, Hopkin RJ, Hudgins L, Janssens S, Keller K, Kelly-Mancuso G, Kochhar A, Korf BR, Lewis AM, Liebelt J, Lichty A, Listernick RH, Lyons MJ, Maystadt I, Martinez Ojeda M, McDougall C, McGregor LK, Melis D, Mendelsohn N, Nowaczyk MJM, Ortenberg J, Panzer K, Pappas JG, Pierpont ME, Piluso G, Pinna V, Pivnick EK, Pond DA, Powell CM, Rogers C, Ruhrman Shahar N, Rutledge SL, Saletti V, Sandaradura SA, Santoro C, Schatz UA, Schreiber A, Scott DA, Sellars EA, Sheffer R, Siqveland E, Slopis JM, Smith R, Spalice A, Stockton DW, Streff H, Theos A, Tomlinson GE, Tran G, Trapane PL, Trevisson E, Ullrich NJ, Van den Ende J, Schrier Vergano SA, Wallace SE, Wangler MF, Weaver DD, Yohay KH, Zackai E, Zonana J, Zurcher V, Claes KBM, Eoli M, Martin Y, Wimmer K, De Luca A, Legius E, Messiaen LM. Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1. Hum Mutat. 2020 01; 41(1):299-315.

Luo X, Feurstein S, Mohan S, Porter CC, Jackson SA, Keel S, Chicka M, Brown AL, Kesserwan C, Agarwal A, Luo M, Li Z, Ross JE, Baliakas P, Pineda-Alvarez D, DiNardo CD, Bertuch AA, Mehta N, Vulliamy T, Wang Y, Nichols KE, Malcovati L, Walsh MF, Rawlings LH, McWeeney SK, Soulier J, Raimbault A, Routbort MJ, Zhang L, Ryan G, Speck NA, Plon SE, Wu D, Godley LA. ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants. Blood Adv. 2019 10 22; 3(20):2962-2979.

Moseley PL, Brunak S. Identifying Sepsis Phenotypes. JAMA. 2019 10 08; 322(14):1416-1417.

Goto A, Ishii A, Shibata M, Ihara Y, Cooper EC, Hirose S. Characteristics of KCNQ2 variants causing either benign neonatal epilepsy or developmental and epileptic encephalopathy. Epilepsia. 2019 09; 60(9):1870-1880.

Cotton AP, Gokarakonda S, Caffrey AR, Zarate YA, Kumar N. Behavioral phenotype and sleep problems in SATB2-associated syndrome. Dev Med Child Neurol. 2020 07; 62(7):827-832.

Thomason A, Pankey E, Nutt B, Caffrey AR, Zarate YA. Speech, language, and feeding phenotypes of SATB2-associated syndrome. Clin Genet. 2019 12; 96(6):485-492.

Burkardt DD, Zachariou A, Loveday C, Allen CL, Amor DJ, Ardissone A, Banka S, Bourgois A, Coubes C, Cytrynbaum C, Faivre L, Marion G, Horton R, Kotzot D, Lay-Son G, Lees M, Low K, Luk HM, Mark P, McConkie-Rosell A, McDonald M, Pappas J, Phillipe C, Shears D, Skotko B, Stewart F, Stewart H, Temple IK, Mau-Them FT, Verdugo RA, Weksberg R, Zarate YA, Graham JM, Tatton-Brown K. HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals. Am J Med Genet A. 2019 10; 179(10):2049-2055.

Symonds JD, Zuberi SM, Stewart K, McLellan A, O'Regan M, MacLeod S, Jollands A, Joss S, Kirkpatrick M, Brunklaus A, Pilz DT, Shetty J, Dorris L, Abu-Arafeh I, Andrew J, Brink P, Callaghan M, Cruden J, Diver LA, Findlay C, Gardiner S, Grattan R, Lang B, MacDonnell J, McKnight J, Morrison CA, Nairn L, Slean MM, Stephen E, Webb A, Vincent A, Wilson M. Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort. Brain. 2019 08 01; 142(8):2303-2318.

Jonsson P, Bandlamudi C, Cheng ML, Srinivasan P, Chavan SS, Friedman ND, Rosen EY, Richards AL, Bouvier N, Selcuklu SD, Bielski CM, Abida W, Mandelker D, Birsoy O, Zhang L, Zehir A, Donoghue MTA, Baselga J, Offit K, Scher HI, O'Reilly EM, Stadler ZK, Schultz N, Socci ND, Viale A, Ladanyi M, Robson ME, Hyman DM, Berger MF, Solit DB, Taylor BS. Tumour lineage shapes BRCA-mediated phenotypes. Nature. 2019 07; 571(7766):576-579.

Johnson BV, Kumar R, Oishi S, Alexander S, Kasherman M, Vega MS, Ivancevic A, Gardner A, Domingo D, Corbett M, Parnell E, Yoon S, Oh T, Lines M, Lefroy H, Kini U, Van Allen M, Gr?nborg S, Mercier S, K?ry S, B?zieau S, Pasquier L, Raynaud M, Afenjar A, Billette de Villemeur T, Keren B, D?sir J, Van Maldergem L, Marangoni M, Dikow N, Koolen DA, VanHasselt PM, Weiss M, Zwijnenburg P, Sa J, Reis CF, L?pez-Ot?n C, Santiago-Fern?ndez O, Fern?ndez-Ja?n A, Rauch A, Steindl K, Joset P, Goldstein A, Madan-Khetarpal S, Infante E, Zackai E, Mcdougall C, Narayanan V, Ramsey K, Mercimek-Andrews S, Pena L, Shashi V, Schoch K, Sullivan JA, Pinto E Vairo F, Pichurin PN, Ewing SA, Barnett SS, Klee EW, Perry MS, Koenig MK, Keegan CE, Schuette JL, Asher S, Perilla-Young Y, Smith LD, Rosenfeld JA, Bhoj E, Kaplan P, Li D, Oegema R, van Binsbergen E, van der Zwaag B, Smeland MF, Cutcutache I, Page M, Armstrong M, Lin AE, Steeves MA, Hollander ND, Hoffer MJV, Reijnders MRF, Demirdas S, Koboldt DC, Bartholomew D, Mosher TM, Hickey SE, Shieh C, Sanchez-Lara PA, Graham JM, Tezcan K, Schaefer GB, Danylchuk NR, Asamoah A, Jackson KE, Yachelevich N, Au M, P?rez-Jurado LA, Kleefstra T, Penzes P, Wood SA, Burne T, Pierson TM, Piper M, G?cz J, Jolly LA. Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor ? Signaling. Biol Psychiatry. 2020 01 15; 87(2):100-112.

Sombi? HK, Kologo JK, Tchelougou D, Ou?draogo SY, Ouattara AK, Compaor? TR, Nagalo BM, Sorgho AP, Nagabila I, Soube?ga ST, Djigma FW, Yonli AT, Zabsonr? P, Millogo H, Simpor? J. Positive association between ATP2B1 rs17249754 and essential hypertension: a case-control study in Burkina Faso, West Africa. BMC Cardiovasc Disord. 2019 06 26; 19(1):155.

Richter JE, Samreen A, Vadlamudi C, Helmi H, Mohammad AN, Wierenga K, Hines S, Atwal PS, Caulfield TR. Genomic Observations of a Rare/Pathogenic SMAD3 Variant in Loeys?Dietz Syndrome 3 Confirmed by Protein Informatics and Structural Investigations. Medicina (Kaunas). 2019 05 15; 55(5).

Illouz-Eliaz N, Ramon U, Shohat H, Blum S, Livne S, Mendelson D, Weiss D. Multiple Gibberellin Receptors Contribute to Phenotypic Stability under Changing Environments. Plant Cell. 2019 07; 31(7):1506-1519.

Zarate YA, Boccuto L, Srikanth S, Pauly R, Ocal E, Balmakund T, Hinkle K, Stefans V, Schaefer GB, Collins RT. Constitutive activation of the PI3K-AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndrome. Am J Med Genet A. 2019 06; 179(6):1047-1052.

Ritter A, Cuddapah S, Degenhardt K, Kasperski S, Johnson MP, O'Connor MJ, Ahrens-Nicklas R. Fetal cardiomyopathy in neurofibromatosis type I: Novel phenotype and review of the literature. Am J Med Genet A. 2019 06; 179(6):1042-1046.

Sallam A, Amro A, Elakhdar A, Dawood MFA, Moursi YS, Baenziger PS. Marker-trait association for grain weight of spring barley in well-watered and drought environments. Mol Biol Rep. 2019 Jun; 46(3):2907-2918.

Pringsheim M, Mitter D, Schr?der S, Warthemann R, Pl?macher K, Kluger G, Baethmann M, Bast T, Braun S, B?ttel HM, Conover E, Courage C, Datta AN, Eger A, Grebe TA, Hasse-Wittmer A, Heruth M, H?ft K, Kaindl AM, Karch S, Kautzky T, Korenke GC, Kruse B, Lutz RE, Omran H, Patzer S, Philippi H, Ramsey K, Rating T, Rie? A, Schimmel M, Westman R, Zech FM, Zirn B, Ulmke PA, Sokpor G, Tuoc T, Leha A, Staudt M, Brockmann K. Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/- mice. Ann Clin Transl Neurol. 2019 Apr; 6(4):655-668.

McCoin CS, Gillingham MB, Knotts TA, Vockley J, Ono-Moore KD, Blackburn ML, Norman JE, Adams SH. Blood cytokine patterns suggest a modest inflammation phenotype in subjects with long-chain fatty acid oxidation disorders. Physiol Rep. 2019 03; 7(6):e14037.

Chen YZ, Kl?ditz K, Lee ES, Nguyen DP, Yuan Q, Johnson J, Lee-Yow Y, Hall A, Mitani S, Xia NS, Fadeel B, Xue D. Structure and function analysis of the C. elegans aminophospholipid translocase TAT-1. J Cell Sci. 2019 02 28; 132(5).

Girer NG, Carter D, Bhattarai N, Mustafa M, Denner L, Porter C, Elferink CJ. Inducible Loss of the Aryl Hydrocarbon Receptor Activates Perigonadal White Fat Respiration and Brown Fat Thermogenesis via Fibroblast Growth Factor 21. Int J Mol Sci. 2019 Feb 22; 20(4).

Howe LJ, Sharp GC, Hemani G, Zuccolo L, Richmond S, Lewis SJ. Prenatal alcohol exposure and facial morphology in a UK cohort. Drug Alcohol Depend. 2019 04 01; 197:42-47.

Samanta D, Zarate YA. Widening phenotypic spectrum of GABBR2 mutation. Acta Neurol Belg. 2019 Sep; 119(3):493-496.

Roberts DJ, Kalkwarf KJ, Moore HB, Cohen MJ, Fox EE, Wade CE, Cotton BA. Time course and outcomes associated with transient versus persistent fibrinolytic phenotypes after injury: A nested, prospective, multicenter cohort study. J Trauma Acute Care Surg. 2019 02; 86(2):206-213.

Jiang X, Finucane HK, Schumacher FR, Schmit SL, Tyrer JP, Han Y, Michailidou K, Lesseur C, Kuchenbaecker KB, Dennis J, Conti DV, Casey G, Gaudet MM, Huyghe JR, Albanes D, Aldrich MC, Andrew AS, Andrulis IL, Anton-Culver H, Antoniou AC, Antonenkova NN, Arnold SM, Aronson KJ, Arun BK, Bandera EV, Barkardottir RB, Barnes DR, Batra J, Beckmann MW, Benitez J, Benlloch S, Berchuck A, Berndt SI, Bickeb?ller H, Bien SA, Blomqvist C, Boccia S, Bogdanova NV, Bojesen SE, Bolla MK, Brauch H, Brenner H, Brenton JD, Brook MN, Brunet J, Brunnstr?m H, Buchanan DD, Burwinkel B, Butzow R, Cadoni G, Cald?s T, Caligo MA, Campbell I, Campbell PT, Cancel-Tassin G, Cannon-Albright L, Campa D, Caporaso N, Carvalho AL, Chan AT, Chang-Claude J, Chanock SJ, Chen C, Christiani DC, Claes KBM, Claessens F, Clements J, Coll?e JM, Correa MC, Couch FJ, Cox A, Cunningham JM, Cybulski C, Czene K, Daly MB, deFazio A, Devilee P, Diez O, Gago-Dominguez M, Donovan JL, D?rk T, Duell EJ, Dunning AM, Dwek M, Eccles DM, Edlund CK, Edwards DRV, Ellberg C, Evans DG, Fasching PA, Ferris RL, Liloglou T, Figueiredo JC, Fletcher O, Fortner RT, Fostira F, Franceschi S, Friedman E, Gallinger SJ, Ganz PA, Garber J, Garc?a-S?enz JA, Gayther SA, Giles GG, Godwin AK, Goldberg MS, Goldgar DE, Goode EL, Goodman MT, Goodman G, Grankvist K, Greene MH, Gronberg H, Gronwald J, Gu?nel P, H?kansson N, Hall P, Hamann U, Hamdy FC, Hamilton RJ, Hampe J, Haugen A, Heitz F, Herrero R, Hillemanns P, Hoffmeister M, H?gdall E, Hong YC, Hopper JL, Houlston R, Hulick PJ, Hunter DJ, Huntsman DG, Idos G, Imyanitov EN, Ingles SA, Isaacs C, Jakubowska A, James P, Jenkins MA, Johansson M, Johansson M, John EM, Joshi AD, Kaneva R, Karlan BY, Kelemen LE, K?hl T, Khaw KT, Khusnutdinova E, Kibel AS, Kiemeney LA, Kim J, Kjaer SK, Knight JA, Kogevinas M, Kote-Jarai Z, Koutros S, Kristensen VN, Kupryjanczyk J, Lacko M, Lam S, Lambrechts D, Landi MT, Lazarus P, Le ND, Lee E, Lejbkowicz F, Lenz HJ, Leslie G, Lessel D, Lester J, Levine DA, Li L, Li CI, Lindblom A, Lindor NM, Liu G, Loupakis F, Lubinski J, Maehle L, Maier C, Mannermaa A, Marchand LL, Margolin S, May T, McGuffog L, Meindl A, Middha P, Miller A, Milne RL, MacInnis RJ, Modugno F, Montagna M, Moreno V, Moysich KB, Mucci L, Muir K, Mulligan AM, Nathanson KL, Neal DE, Ness AR, Neuhausen SL, Nevanlinna H, Newcomb PA, Newcomb LF, Nielsen FC, Nikitina-Zake L, Nordestgaard BG, Nussbaum RL, Offit K, Olah E, Olama AAA, Olopade OI, Olshan AF, Olsson H, Osorio A, Pandha H, Park JY, Pashayan N, Parsons MT, Pejovic T, Penney KL, Peters WHM, Phelan CM, Phipps AI, Plaseska-Karanfilska D, Pring M, Prokofyeva D, Radice P, Stefansson K, Ramus SJ, Raskin L, Rennert G, Rennert HS, van Rensburg EJ, Riggan MJ, Risch HA, Risch A, Roobol MJ, Rosenstein BS, Rossing MA, De Ruyck K, Saloustros E, Sandler DP, Sawyer EJ, Schabath MB, Schleutker J, Schmidt MK, Setiawan VW, Shen H, Siegel EM, Sieh W, Singer CF, Slattery ML, Sorensen KD, Southey MC, Spurdle AB, Stanford JL, Stevens VL, Stintzing S, Stone J, Sundfeldt K, Sutphen R, Swerdlow AJ, Tajara EH, Tangen CM, Tardon A, Taylor JA, Teare MD, Teixeira MR, Terry MB, Terry KL, Thibodeau SN, Thomassen M, Bj?rge L, Tischkowitz M, Toland AE, Torres D, Townsend PA, Travis RC, Tung N, Tworoger SS, Ulrich CM, Usmani N, Vachon CM, Van Nieuwenhuysen E, Vega A, Aguado-Barrera ME, Wang Q, Webb PM, Weinberg CR, Weinstein S, Weissler MC, Weitzel JN, West CML, White E, Whittemore AS, Wichmann HE, Wiklund F, Winqvist R, Wolk A, Woll P, Woods M, Wu AH, Wu X, Yannoukakos D, Zheng W, Zienolddiny S, Ziogas A, Zorn KK, Lane JM, Saxena R, Thomas D, Hung RJ, Diergaarde B, McKay J, Peters U, Hsu L, Garc?a-Closas M, Eeles RA, Chenevix-Trench G, Brennan PJ, Haiman CA, Simard J, Easton DF, Gruber SB, Pharoah PDP, Price AL, Pasaniuc B, Amos CI, Kraft P, Lindstr?m S. Shared heritability and functional enrichment across six solid cancers. Nat Commun. 2019 01 25; 10(1):431.

Reed L, Indra R, Mrizova I, Moserova M, Schmeiser HH, Wolf CR, Henderson CJ, Stiborova M, Phillips DH, Arlt VM. Application of hepatic cytochrome b5/P450 reductase null (HBRN) mice to study the role of cytochrome b5 in the cytochrome P450-mediated bioactivation of the anticancer drug ellipticine. Toxicol Appl Pharmacol. 2019 03 01; 366:64-74.

Wang P, Garza M, Zozus M. Cancer Phenotype Development: A Literature Review. Stud Health Technol Inform. 2019; 257:468-472.

Karim R, Koc M, Rettberg JR, Hodis HN, Henderson VW, St John JA, Allayee H, Brinton RD, Mack WJ. Apolipoprotein E4 genotype in combination with poor metabolic profile is associated with reduced cognitive performance in healthy postmenopausal women: implications for late onset Alzheimer's disease. Menopause. 2019 01; 26(1):7-15.

Asfari A, Dent JA, Corken A, Herington D, Kaliki V, Sra N, Hefley G, Pasala S, Prodhan P, Ware J. Platelet Glycoprotein VI Haplotypes and the Presentation of Paediatric Sepsis. Thromb Haemost. 2019 Mar; 119(3):431-438.

Costantini A, Valta H, Baratang NV, Yap P, Bertola DR, Yamamoto GL, Kim CA, Chen J, Wierenga KJ, Fanning EA, Escobar L, McWalter K, McLaughlin H, Willaert R, Begtrup A, Alm JJ, Reinhardt DP, M?kitie O, Campeau PM. Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures". Bone. 2019 04; 121:163-171.

Gust KA, Chaitankar V, Ghosh P, Wilbanks MS, Chen X, Barker ND, Pham D, Scanlan LD, Rawat A, Talent LG, Quinn MJ, Vulpe CD, Elasri MO, Johnson MS, Perkins EJ, McFarland CA. Multiple environmental stressors induce complex transcriptomic responses indicative of phenotypic outcomes in Western fence lizard. BMC Genomics. 2018 Dec 05; 19(1):877.

Hiatt SM, Neu MB, Ramaker RC, Hardigan AA, Prokop JW, Hancarova M, Prchalova D, Havlovicova M, Prchal J, Stranecky V, Yim DKC, Powis Z, Keren B, Nava C, Mignot C, Rio M, Revah-Politi A, Hemati P, Stong N, Iglesias AD, Suchy SF, Willaert R, Wentzensen IM, Wheeler PG, Brick L, Kozenko M, Hurst ACE, Wheless JW, Lacassie Y, Myers RM, Barsh GS, Sedlacek Z, Cooper GM. De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay. PLoS Genet. 2018 11; 14(11):e1007671.

Logan CV, Murray JE, Parry DA, Robertson A, Bellelli R, Tarnauskaite ?, Challis R, Cleal L, Borel V, Fluteau A, Santoyo-Lopez J, Aitman T, Barroso I, Basel D, Bicknell LS, Goel H, Hu H, Huff C, Hutchison M, Joyce C, Knox R, Lacroix AE, Langlois S, McCandless S, McCarrier J, Metcalfe KA, Morrissey R, Murphy N, Netchine I, O'Connell SM, Olney AH, Paria N, Rosenfeld JA, Sherlock M, Syverson E, White PC, Wise C, Yu Y, Zacharin M, Banerjee I, Reijns M, Bober MB, Semple RK, Boulton SJ, Rios JJ, Jackson AP. DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency. Am J Hum Genet. 2018 12 06; 103(6):1038-1044.

Williams DK, Pinz?n C, Huggins S, Pryor JH, Falck A, Herman F, Oldeschulte J, Chavez MB, Foster BL, White SH, Westhusin ME, Suva LJ, Long CR, Gaddy D. Genetic engineering a large animal model of human hypophosphatasia in sheep. Sci Rep. 2018 11 16; 8(1):16945.

Lynch JM, Dolman AJ, Guo C, Dolan K, Xiang C, Reda S, Li B, Prasanna G. Mutant myocilin impacts sarcomere ultrastructure in mouse gastrocnemius muscle. PLoS One. 2018; 13(11):e0206801.

Hou TT, Lin F, Bai S, Cleves MA, Xu HM, Lou XY. Generalized multifactor dimensionality reduction approaches to identification of genetic interactions underlying ordinal traits. Genet Epidemiol. 2019 02; 43(1):24-36.

Pouncey DL, Hartman JH, Moore PC, Dillinger DJ, Dickerson KW, Sappington DR, Smith ES, Boysen G, Miller GP. Novel isomeric metabolite profiles correlate with warfarin metabolism phenotype during maintenance dosing in a pilot study of 29 patients. Blood Coagul Fibrinolysis. 2018 Nov; 29(7):602-612.

Elias KM, Tsantoulis P, Tille JC, Vitonis A, Doyle LA, Hornick JL, Kaya G, Barnes L, Cramer DW, Puppa G, Stuckelberger S, Hooda J, Dietrich PY, Goggins M, Kerr CL, Birrer M, Hirsch MS, Drapkin R, Labidi-Galy SI. Primordial germ cells as a potential shared cell of origin for mucinous cystic neoplasms of the pancreas and mucinous ovarian tumors. J Pathol. 2018 12; 246(4):459-469.

Scott J, Adams C, Simmons K, Feather A, Jones J, Hartzell L, Wesley L, Johnson A, Fish J, Bosanko K, Beetstra S, Zarate YA. Dental radiographic findings in 18 individuals with SATB2-associated syndrome. Clin Oral Investig. 2018 Nov; 22(8):2947-2951.

Nikam RM, Gripp KW, Choudhary AK, Kandula V. Imaging phenotype of multiple mitochondrial dysfunction syndrome 2, a rare BOLA3-associated leukodystrophy. Am J Med Genet A. 2018 12; 176(12):2787-2790.

Park YM, Choi MK, Lee SS. Reply-Letter to the Editor - Metabolic healthy overweight/obese individuals: Not just a restricted group. Clin Nutr. 2019 02; 38(1):483.

Tan QK, Cope H, Spillmann RC, Stong N, Jiang YH, McDonald MT, Rothman JA, Butler MW, Frush DP, Lachman RS, Lee B, Bacino CA, Bonner MJ, McCall CM, Pendse AA, Walley N, Shashi V, Pena LDM. Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features. Cold Spring Harb Mol Case Stud. 2018 10; 4(5).

Gonzalez-Jimenez A, McEuen K, Chen M, Suzuki A, Robles-Diaz M, Medina-Caliz I, Bessone F, Hernandez N, Arrese M, Parana R, Lucena MI, Stephens C, Andrade RJ. The influence of drug properties and host factors on delayed onset of symptoms in drug-induced liver injury. Liver Int. 2019 02; 39(2):401-410.

B?dker JS, Br?ndum RF, Schmitz A, Sch?nherz AA, Jespersen DS, S?nderk?r M, Vesteghem C, Due H, N?rgaard CH, Perez-Andres M, Samur MK, Davies F, Walker B, Pawlyn C, Kaiser M, Johnson D, Bertsch U, Broyl A, van Duin M, Shah R, Johansen P, N?rgaard MA, Samworth RJ, Sonneveld P, Goldschmidt H, Morgan GJ, Orfao A, Munshi N, Johnson HE, El-Galaly T, Dybk?r K, B?gsted M. A multiple myeloma classification system that associates normal B-cell subset phenotypes with prognosis. Blood Adv. 2018 09 25; 2(18):2400-2411.

Phelan PS. On the validity of metrics for defining penile distensibility phenotypes. Int J Impot Res. 2018 Nov; 30(6):361-363.

Vissing J, Akman HO, Aasly J, Kahler SG, Bacino CA, DiMauro S, Haller RG. Level of residual enzyme activity modulates the phenotype in phosphoglycerate kinase deficiency. Neurology. 2018 09 11; 91(11):e1077-e1082.

Howe LJ, Lee MK, Sharp GC, Davey Smith G, St Pourcain B, Shaffer JR, Ludwig KU, Mangold E, Marazita ML, Feingold E, Zhurov A, Stergiakouli E, Sandy J, Richmond S, Weinberg SM, Hemani G, Lewis SJ. Investigating the shared genetics of non-syndromic cleft lip/palate and facial morphology. PLoS Genet. 2018 08; 14(8):e1007501.

Chehade M, Jones SM, Pesek RD, Burks AW, Vickery BP, Wood RA, Leung DYM, Furuta GT, Fleischer DM, Henning AK, Dawson P, Lindblad RW, Sicherer SH, Abonia JP, Sherrill JD, Sampson HA, Rothenberg ME. Phenotypic Characterization of Eosinophilic Esophagitis in a Large Multicenter Patient Population from the Consortium for Food Allergy?Research. J Allergy Clin Immunol Pract. 2018 Sep - Oct; 6(5):1534-1544.e5.

Hovelson DH, Udager AM, McDaniel AS, Grivas P, Palmbos P, Tamura S, Lazo de la Vega L, Palapattu G, Veeneman B, El-Sawy L, Sadis SE, Morgan TM, Montgomery JS, Weizer AZ, Day KC, Neamati N, Liebert M, Keller ET, Day ML, Mehra R, Tomlins SA. Targeted DNA and RNA Sequencing of Paired Urothelial and Squamous Bladder Cancers Reveals Discordant Genomic and Transcriptomic Events and Unique Therapeutic Implications. Eur Urol. 2018 12; 74(6):741-753.

Ja?arevic E, Howard CD, Morrison K, Misic A, Weinkopff T, Scott P, Hunter C, Beiting D, Bale TL. The maternal vaginal microbiome partially mediates the effects of prenatal stress on offspring gut and hypothalamus. Nat Neurosci. 2018 08; 21(8):1061-1071.

Palsgrove DN, Brosnan-Cashman JA, Giannini C, Raghunathan A, Jentoft M, Bettegowda C, Gokden M, Lin D, Yuan M, Lin MT, Heaphy CM, Rodriguez FJ. Subependymal giant cell astrocytoma-like astrocytoma: a neoplasm with a distinct phenotype and frequent neurofibromatosis type-1-association. Mod Pathol. 2018 12; 31(12):1787-1800.

Larsen CP, Bonsib SM, Beggs ML, Wilson JD. Fluorescence in situ hybridization for the diagnosis of NPHP1 deletion-related nephronophthisis on renal biopsy. Hum Pathol. 2018 11; 81:71-77.

Au PYB, Goedhart C, Ferguson M, Breckpot J, Devriendt K, Wierenga K, Fanning E, Grange DK, Graham GE, Galarreta C, Jones MC, Kini U, Stewart H, Parboosingh JS, Kline AD, Innes AM. Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature. Eur J Hum Genet. 2018 09; 26(9):1272-1281.

Wooderchak-Donahue WL, Johnson P, McDonald J, Blei F, Berenstein A, Sorscher M, Mayer J, Scheuerle AE, Lewis T, Grimmer JF, Richter GT, Steeves MA, Lin AE, Stevenson DA, Bayrak-Toydemir P. Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation. Eur J Hum Genet. 2018 10; 26(10):1521-1536.

O'Leary TP, Hussin AT, Gunn RK, Brown RE. Locomotor activity, emotionality, sensori-motor gating, learning and memory in the APPswe/PS1dE9 mouse model of Alzheimer's disease. Brain Res Bull. 2018 06; 140:347-354.

Ding X, Pervere LM, Bascom C, Bibeau JP, Khurana S, Butt AM, Orr RG, Flaherty PJ, Bezanilla M, Vidali L. Conditional genetic screen in Physcomitrella patens reveals a novel microtubule depolymerizing-end-tracking protein. PLoS Genet. 2018 05; 14(5):e1007221.

St?ve SI, Blenski M, Stray-Pedersen A, Wierenga KJ, Jhangiani SN, Akdemir ZC, Crawford D, McTiernan N, Myklebust LM, Purcarin G, McNall-Knapp R, Wadley A, Belmont JW, Kim JJ, Lupski JR, Arnesen T. A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy. Eur J Hum Genet. 2018 09; 26(9):1294-1305.

Blackburn JB, Kudlyk T, Pokrovskaya I, Lupashin VV. More than just sugars: Conserved oligomeric Golgi complex deficiency causes glycosylation-independent cellular defects. Traffic. 2018 06; 19(6):463-480.

Park YM, Choi MK, Lee SS, Shivappa N, Han K, Steck SE, H?bert JR, Merchant AT, Sandler DP. Dietary inflammatory potential and risk of mortality in metabolically healthy and unhealthy phenotypes among overweight and obese adults. Clin Nutr. 2019 04; 38(2):682-688.

Olson HE, Jean-Mar?ais N, Yang E, Heron D, Tatton-Brown K, van der Zwaag PA, Bijlsma EK, Krock BL, Backer E, Kamsteeg EJ, Sinnema M, Reijnders MRF, Bearden D, Begtrup A, Telegrafi A, Lunsing RJ, Burglen L, Lesca G, Cho MT, Smith LA, Sheidley BR, Moufawad El Achkar C, Pearl PL, Poduri A, Skraban CM, Tarpinian J, Nesbitt AI, Fransen van de Putte DE, Ruivenkamp CAL, Rump P, Chatron N, Sabatier I, De Bellescize J, Guibaud L, Sweetser DA, Waxler JL, Wierenga KJ, Donadieu J, Narayanan V, Ramsey KM, Nava C, Rivi?re JB, Vitobello A, Tran Mau-Them F, Philippe C, Bruel AL, Duffourd Y, Thomas L, Lelieveld SH, Schuurs-Hoeijmakers J, Brunner HG, Keren B, Thevenon J, Faivre L, Thomas G, Thauvin-Robinet C. A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis. Am J Hum Genet. 2018 05 03; 102(5):995-1007.

Kim SY, Jones DR, Kang JY, Yun CH, Miller GP. Regioselectivity significantly impacts microsomal glucuronidation efficiency of R/S-6, 7-, and 8-hydroxywarfarin. Xenobiotica. 2019 Apr; 49(4):397-403.

Aravindhan A, Veerapandiyan A, Earley C, Thulasi V, Kresge C, Kornitzer J. Child Neurology: Type 1 sialidosis due to a novel mutation in NEU1 gene. Neurology. 2018 03 27; 90(13):622-624.

Berin MC, Grishin A, Masilamani M, Leung DYM, Sicherer SH, Jones SM, Burks AW, Henning AK, Dawson P, Grabowska J, Agashe C, Davidson WF, Wood RA, Sampson HA. Egg-specific IgE and basophil activation but not egg-specific T-cell counts correlate with phenotypes of clinical egg allergy. J Allergy Clin Immunol. 2018 07; 142(1):149-158.e8.

Yadlapalli JSK, Dogra N, Walbaum AW, Prather PL, Crooks PA, Dobretsov M. Pinprick hypo- and hyperalgesia in diabetic rats: Can diet content affect experimental outcome? Neurosci Lett. 2018 04 23; 673:24-27.

Zarate YA, Smith-Hicks CL, Greene C, Abbott MA, Siu VM, Calhoun ARUL, Pandya A, Li C, Sellars EA, Kaylor J, Bosanko K, Kalsner L, Basinger A, Slavotinek AM, Perry H, Saenz M, Szybowska M, Wilson LC, Kumar A, Brain C, Balasubramanian M, Dubbs H, Ortiz-Gonzalez XR, Zackai E, Stein Q, Powell CM, Schrier Vergano S, Britt A, Sun A, Smith W, Bebin EM, Picker J, Kirby A, Pinz H, Bombei H, Mahida S, Cohen JS, Fatemi A, Vernon HJ, McClellan R, Fleming LR, Knyszek B, Steinraths M, Velasco Gonzalez C, Beck AE, Golden-Grant KL, Egense A, Parikh A, Raimondi C, Angle B, Allen W, Schott S, Algrabli A, Robin NH, Ray JW, Everman DB, Gambello MJ, Chung WK. Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome. Am J Med Genet A. 2018 04; 176(4):925-935.

Renshaw H, Vargas-Mu?iz JM, Juvvadi PR, Richards AD, Waitt G, Soderblom EJ, Moseley MA, Steinbach WJ. The tail domain of the Aspergillus fumigatus class V myosin MyoE orchestrates septal localization and hyphal growth. J Cell Sci. 2018 02 07; 131(3).

Mirkovic J, McFarland M, Garcia E, Sholl LM, Lindeman N, MacConaill L, Dong F, Hirsch M, Nucci MR, Quick CM, Crum CP, McCluggage WG, Howitt BE. Targeted Genomic Profiling Reveals Recurrent KRAS Mutations in Mesonephric-like Adenocarcinomas of the Female Genital Tract. Am J Surg Pathol. 2018 02; 42(2):227-233.

Sk?lov? A, Stenman G, Simpson RHW, Hellquist H, Slouka D, Svoboda T, Bishop JA, Hunt JL, Nibu KI, Rinaldo A, Vander Poorten V, Devaney KO, Steiner P, Ferlito A. The Role of Molecular Testing in the Differential Diagnosis of Salivary Gland Carcinomas. Am J Surg Pathol. 2018 02; 42(2):e11-e27.

Ogendi BMO, Bakshi RK, Gupta K, Kapil R, Brown LT, Jordan SJ, Sabbaj S, Press CG, Lee JY, Geisler WM. T cell phenotypes in women with Chlamydia trachomatis infection and influence of treatment on phenotype distributions. Microbes Infect. 2018 03; 20(3):176-184.

Kaldhone PR, Han J, Deck J, Khajanchi B, Nayak R, Foley SL, Ricke SC. Evaluation of the Genetics and Functionality of Plasmids in Incompatibility Group I1-Positive Salmonella enterica. Foodborne Pathog Dis. 2018 03; 15(3):168-176.

Rahal OM, Wolfe AR, Mandal PK, Larson R, Tin S, Jimenez C, Zhang D, Horton J, Reuben JM, McMurray JS, Woodward WA. Blocking Interleukin (IL)4- and IL13-Mediated Phosphorylation of STAT6 (Tyr641) Decreases M2 Polarization of Macrophages and Protects Against Macrophage-Mediated Radioresistance of Inflammatory Breast Cancer. Int J Radiat Oncol Biol Phys. 2018 03 15; 100(4):1034-1043.

McKelvey KD, Trana CJ, Kelsay J, Sawyer J, Clothier J. Phelan-McDermid syndrome and cancer predisposition: The value of a karyotype. Am J Med Genet A. 2018 01; 176(1):144-145.

Robertson CC, Gillies CE, Putler RKB, Ng D, Reidy KJ, Crawford B, Sampson MG. An investigation of APOL1 risk genotypes and preterm birth in African American population cohorts. Nephrol Dial Transplant. 2017 Dec 01; 32(12):2051-2058.

Chen Y, Kho AN, Liebovitz D, Ivory C, Osmundson S, Bian J, Malin BA. Learning bundled care opportunities from electronic medical records. J Biomed Inform. 2018 01; 77:1-10.

Ajani JA, Estrella JS, Chen Q, Correa AM, Ma L, Scott AW, Jin J, Liu B, Xie M, Sudo K, Shiozaki H, Badgwell B, Weston B, Lee JH, Bhutani MS, Onodera H, Suzuki K, Suzuki A, Ding S, Hofstetter WL, Johnson RL, Bresalier RS, Song S. Galectin-3 expression is prognostic in diffuse type gastric adenocarcinoma, confers aggressive phenotype, and can be targeted by YAP1/BET inhibitors. Br J Cancer. 2018 01; 118(1):52-61.

Yang W, Yaggie RE, Jiang MC, Rudick CN, Done J, Heckman CJ, Rosen JM, Schaeffer AJ, Klumpp DJ. Acyloxyacyl hydrolase modulates pelvic pain severity. Am J Physiol Regul Integr Comp Physiol. 2018 03 01; 314(3):R353-R365.

Chen W, Druzak SA, Wang Y, Josephson CD, Hoffmeister KM, Ware J, Li R. Refrigeration-Induced Binding of von Willebrand Factor Facilitates Fast Clearance of Refrigerated Platelets. Arterioscler Thromb Vasc Biol. 2017 12; 37(12):2271-2279.

Bhatta A, Yao L, Xu Z, Toque HA, Chen J, Atawia RT, Fouda AY, Bagi Z, Lucas R, Caldwell RB, Caldwell RW. Obesity-induced vascular dysfunction and arterial stiffening requires endothelial cell arginase 1. Cardiovasc Res. 2017 Nov 01; 113(13):1664-1676.

Acheson A, Vincent AS, Cohoon AJ, Lovallo WR. Defining the phenotype of young adults with family histories of alcohol and other substance use disorders: Studies from the family health patterns project. Addict Behav. 2018 Feb; 77:247-254.

Ogendi BMO, Bakshi RK, Sabbaj S, Brown L, Lee JY, Kapil R, Geisler WM. Distinct peripheral vs mucosal T-cell phenotypes in chlamydia-infected women. Am J Reprod Immunol. 2017 Dec; 78(6).

Wu X, Zhang LS, Toombs J, Kuo YC, Piazza JT, Tuladhar R, Barrett Q, Fan CW, Zhang X, Walensky LD, Kool M, Cheng SY, Brekken R, Opferman JT, Green DR, Moldoveanu T, Lum L. Extra-mitochondrial prosurvival BCL-2 proteins regulate gene transcription by inhibiting the SUFU?tumour suppressor. Nat Cell Biol. 2017 Oct; 19(10):1226-1236.

Howe LJ, Erzurumluoglu AM, Davey Smith G, Rodriguez S, Stergiakouli E. Y Chromosome, Mitochondrial DNA and Childhood Behavioural Traits. Sci Rep. 2017 09 14; 7(1):11655.

Fernandes DJ, Ellegood J, Askalan R, Blakely RD, Dicicco-Bloom E, Egan SE, Osborne LR, Powell CM, Raznahan A, Robins DM, Salter MW, Sengar AS, Veenstra-VanderWeele J, Henkelman RM, Lerch JP. Spatial gene expression analysis of neuroanatomical differences in mouse models. Neuroimage. 2017 12; 163:220-230.

Shakir A, Ripperger M, Jiang Z, Wierenga KJ. Inferred inheritance of MorbidMap genes without OMIM clinical synopsis. Genet Med. 2018 04; 20(4):470-473.

Hennessy RS, Go JL, Hennessy RR, Tefft BJ, Jana S, Stoyles NJ, Al-Hijji MA, Thaden JJ, Pislaru SV, Simari RD, Stulak JM, Young MD, Lerman A. Recellularization of a novel off-the-shelf valve following xenogenic implantation into the right ventricular outflow tract. PLoS One. 2017; 12(8):e0181614.

Lam NT, Lam H, Sturdivant NM, Balachandran K. Fabrication of a matrigel-collagen semi-interpenetrating scaffold for use in dynamic valve interstitial cell culture. Biomed Mater. 2017 Jul 24; 12(4):045013.

Luo X, Rosenfeld JA, Yamamoto S, Harel T, Zuo Z, Hall M, Wierenga KJ, Pastore MT, Bartholomew D, Delgado MR, Rotenberg J, Lewis RA, Emrick L, Bacino CA, Eldomery MK, Coban Akdemir Z, Xia F, Yang Y, Lalani SR, Lotze T, Lupski JR, Lee B, Bellen HJ, Wangler MF. Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. PLoS Genet. 2017 Jul; 13(7):e1006905.

Mitter D, Pringsheim M, Kaulisch M, Pl?macher KS, Schr?der S, Warthemann R, Abou Jamra R, Baethmann M, Bast T, B?ttel HM, Cohen JS, Conover E, Courage C, Eger A, Fatemi A, Grebe TA, Hauser NS, Heinritz W, Helbig KL, Heruth M, Huhle D, H?ft K, Karch S, Kluger G, Korenke GC, Lemke JR, Lutz RE, Patzer S, Prehl I, Hoertnagel K, Ramsey K, Rating T, Rie? A, Rohena L, Schimmel M, Westman R, Zech FM, Zoll B, Malzahn D, Zirn B, Brockmann K. FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants. Genet Med. 2018 01; 20(1):98-108.

Song E, Luo N, Alvarado JA, Lim M, Walnuss C, Neely D, Spandau D, Ghaffarieh A, Sun Y. Ocular Pathology of Oculocerebrorenal Syndrome of Lowe: Novel Mutations and Genotype-Phenotype Analysis. Sci Rep. 2017 05 04; 7(1):1442.

Putnam KT, Wilcox M, Robertson-Blackmore E, Sharkey K, Bergink V, Munk-Olsen T, Deligiannidis KM, Payne J, Altemus M, Newport J, Apter G, Devouche E, Viktorin A, Magnusson P, Penninx B, Buist A, Bilszta J, O'Hara M, Stuart S, Brock R, Roza S, Tiemeier H, Guille C, Epperson CN, Kim D, Schmidt P, Martinez P, Di Florio A, Wisner KL, Stowe Z, Jones I, Sullivan PF, Rubinow D, Wildenhaus K, Meltzer-Brody S. Clinical phenotypes of perinatal depression and time of symptom onset: analysis of data from an international consortium. Lancet Psychiatry. 2017 06; 4(6):477-485.

Bagchi AK, Akolkar G, Mandal S, Ayyappan P, Yang X, Singal PK. Toll-like receptor 2 dominance over Toll-like receptor 4 in stressful conditions for its detrimental role in the heart. Am J Physiol Heart Circ Physiol. 2017 Jun 01; 312(6):H1238-H1247.

Hadden C, Fahmi T, Cooper A, Savenka AV, Lupashin VV, Roberts DJ, Maroteaux L, Hauguel-de Mouzon S, Kilic F. Serotonin transporter protects the placental cells against apoptosis in caspase 3-independent pathway. J Cell Physiol. 2017 Dec; 232(12):3520-3529.

Khokhar A, Chin V, Perez-Colon S, Farook T, Bansal S, Kochummen E, Umpaichitra V. Differences between Metabolically Healthy vs Unhealthy Obese Children and Adolescents. J Natl Med Assoc. 2017 Autumn; 109(3):203-210.

Pawlyn C, Bright MD, Buros AF, Stein CK, Walters Z, Aronson LI, Mirabella F, Jones JR, Kaiser MF, Walker BA, Jackson GH, Clarke PA, Bergsagel PL, Workman P, Chesi M, Morgan GJ, Davies FE. Overexpression of EZH2 in multiple myeloma is associated with poor prognosis and dysregulation of cell cycle control. Blood Cancer J. 2017 03 31; 7(3):e549.

L?pez F, Williams MD, Cardesa A, Hunt JL, Strojan P, Rinaldo A, Nixon IJ, Rodrigo JP, Saba NF, Mendenhall WM, Quer M, Su?rez C, Ferlito A. How phenotype guides management of non-conventional squamous cell carcinomas of the larynx? Eur Arch Otorhinolaryngol. 2017 Jul; 274(7):2709-2726.

Dev Borman A, Rachitskaya A, Suzani M, Sisk RA, Ahmed ZM, Holder GE, Cipriani V, Arno G, Webster AR, Hufnagel RB, Berrocal A, Moore AT. Benign Yellow Dot Maculopathy: A New Macular Phenotype. Ophthalmology. 2017 07; 124(7):1004-1013.

Park YM, White AJ, Nichols HB, O'Brien KM, Weinberg CR, Sandler DP. The association between metabolic health, obesity phenotype and the risk of breast cancer. Int J Cancer. 2017 06 15; 140(12):2657-2666.

Zarate YA, Kalsner L, Basinger A, Jones JR, Li C, Szybowska M, Xu ZL, Vergano S, Caffrey AR, Gonzalez CV, Dubbs H, Zackai E, Millan F, Telegrafi A, Baskin B, Person R, Fish JL, Everman DB. Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome. Clin Genet. 2017 Oct; 92(4):423-429.

Jamuar SS, Schmitz-Abe K, D'Gama AM, Drottar M, Chan WM, Peeva M, Servattalab S, Lam AN, Delgado MR, Clegg NJ, Zayed ZA, Dogar MA, Alorainy IA, Jamea AA, Abu-Amero K, Griebel M, Ward W, Lein ES, Markianos K, Barkovich AJ, Robson CD, Grant PE, Bosley TM, Engle EC, Walsh CA, Yu TW. Biallelic mutations in human DCC cause developmental split-brain syndrome. Nat Genet. 2017 Apr; 49(4):606-612.

L?pez F, Williams MD, Sk?lov? A, Hellquist H, Su?rez C, Nixon IJ, Rodrigo JP, Cardesa A, Strojan P, Quer M, Hunt JL, Rinaldo A, Ferlito A. How Phenotype Guides Management of the Most Common Malignant Salivary Neoplasms of the Larynx? Adv Ther. 2017 04; 34(4):813-825.

Hassed S, Li S, Mulvihill J, Aston C, Palmer S. Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype. Am J Med Genet A. 2017 Mar; 173(3):790-800.

Mulkey SB, Ben-Zeev B, Nicolai J, Carroll JL, Gr?nborg S, Jiang YH, Joshi N, Kelly M, Koolen DA, Mikati MA, Park K, Pearl PL, Scheffer IE, Spillmann RC, Taglialatela M, Vieker S, Weckhuysen S, Cooper EC, Cilio MR. Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H. Epilepsia. 2017 03; 58(3):436-445.

Rahmatallah Y, Zybailov B, Emmert-Streib F, Glazko G. GSAR: Bioconductor package for Gene Set analysis in R. BMC Bioinformatics. 2017 Jan 24; 18(1):61.

Bloom K, Mohsen AW, Karunanidhi A, El Demellawy D, Reyes-M?gica M, Wang Y, Ghaloul-Gonzalez L, Otsubo C, Tobita K, Muzumdar R, Gong Z, Tas E, Basu S, Chen J, Bennett M, Hoppel C, Vockley J. Investigating the link of ACAD10 deficiency to type 2 diabetes mellitus. J Inherit Metab Dis. 2018 01; 41(1):49-57.

Xavier S, Sahu RK, Landes SG, Yu J, Taylor RP, Ayyadevara S, Megyesi J, Stallcup WB, Duffield JS, Reis ES, Lambris JD, Portilla D. Pericytes and immune cells contribute to complement activation in tubulointerstitial fibrosis. Am J Physiol Renal Physiol. 2017 03 01; 312(3):F516-F532.

Glazko G, Rahmatallah Y, Zybailov B, Emmert-Streib F. Extracting the Strongest Signals from Omics Data: Differentially Expressed Pathways and Beyond. Methods Mol Biol. 2017; 1613:125-159.

Kaur H, Corscadden K, Ware J, Othman M. Thrombocytopathy leading to impaired in vivo haemostasis and thrombosis in platelet type von Willebrand disease. Thromb Haemost. 2017 02 28; 117(3):543-555.

Harada Y, Puwanant A, Herrmann DN. Hereditary Neuropathy With Liability to Pressure Palsies: Diverse Phenotypes in Childhood. J Clin Neuromuscul Dis. 2016 Dec; 18(2):79-83.

Vazquez Guillamet R, Ursu O, Iwamoto G, Moseley PL, Oprea T. Chronic obstructive pulmonary disease phenotypes using cluster analysis of electronic medical records. Health Informatics J. 2018 12; 24(4):394-409.

Rebbeck TR, Friebel TM, Mitra N, Wan F, Chen S, Andrulis IL, Apostolou P, Arnold N, Arun BK, Barrowdale D, Benitez J, Berger R, Berthet P, Borg A, Buys SS, Caldes T, Carter J, Chiquette J, Claes KB, Couch FJ, Cybulski C, Daly MB, de la Hoya M, Diez O, Domchek SM, Nathanson KL, Durda K, Ellis S, Evans DG, Foretova L, Friedman E, Frost D, Ganz PA, Garber J, Glendon G, Godwin AK, Greene MH, Gronwald J, Hahnen E, Hallberg E, Hamann U, Hansen TV, Imyanitov EN, Isaacs C, Jakubowska A, Janavicius R, Jaworska-Bieniek K, John EM, Karlan BY, Kaufman B, Investigators K, Kwong A, Laitman Y, Lasset C, Lazaro C, Lester J, Loman N, Lubinski J, Manoukian S, Mitchell G, Montagna M, Neuhausen SL, Nevanlinna H, Niederacher D, Nussbaum RL, Offit K, Olah E, Olopade OI, Park SK, Piedmonte M, Radice P, Rappaport-Fuerhauser C, Rookus MA, Seynaeve C, Simard J, Singer CF, Soucy P, Southey M, Stoppa-Lyonnet D, Sukiennicki G, Szabo CI, Tancredi M, Teixeira MR, Teo SH, Terry MB, Thomassen M, Tihomirova L, Tischkowitz M, Toland AE, Toloczko-Grabarek A, Tung N, van Rensburg EJ, Villano D, Wang-Gohrke S, Wappenschmidt B, Weitzel JN, Zidan J, Zorn KK, McGuffog L, Easton D, Chenevix-Trench G, Antoniou AC, Ramus SJ. Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women. Breast Cancer Res. 2016 11 11; 18(1):112.

Hubel E, Saroha A, Park WJ, Pewzner-Jung Y, Lavoie EG, Futerman AH, Bruck R, Fishman S, Dranoff JA, Shibolet O, Zvibel I. Sortilin Deficiency Reduces Ductular Reaction, Hepatocyte Apoptosis, and Liver Fibrosis in Cholestatic-Induced Liver Injury. Am J Pathol. 2017 Jan; 187(1):122-133.

Das S, Miller M, Beppu AK, Mueller J, McGeough MD, Vuong C, Karta MR, Rosenthal P, Chouiali F, Doherty TA, Kurten RC, Hamid Q, Hoffman HM, Broide DH. GSDMB induces an asthma phenotype characterized by increased airway responsiveness and remodeling without lung inflammation. Proc Natl Acad Sci U S A. 2016 11 15; 113(46):13132-13137.

Thrailkill KM, Nyman JS, Bunn RC, Uppuganti S, Thompson KL, Lumpkin CK, Kalaitzoglou E, Fowlkes JL. The impact of SGLT2 inhibitors, compared with insulin, on diabetic bone disease in a mouse model of type 1 diabetes. Bone. 2017 Jan; 94:141-151.

Kosoy R, Agashe C, Grishin A, Leung DY, Wood RA, Sicherer SH, Jones SM, Burks AW, Davidson WF, Lindblad RW, Dawson P, Merad M, Kidd BA, Dudley JT, Sampson HA, Berin MC. Transcriptional Profiling of Egg Allergy and Relationship to Disease Phenotype. PLoS One. 2016; 11(10):e0163831.

Zarate YA, Fish JL. SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations. Am J Med Genet A. 2017 Feb; 173(2):327-337.

Crawford BD, Gillies CE, Robertson CC, Kretzler M, Otto EA, Vega-Warner V, Sampson MG. Evaluating Mendelian nephrotic syndrome genes for evidence for risk alleles or oligogenicity that explain heritability. Pediatr Nephrol. 2017 03; 32(3):467-476.

Zheng J, Erzurumluoglu AM, Elsworth BL, Kemp JP, Howe L, Haycock PC, Hemani G, Tansey K, Laurin C, Pourcain BS, Warrington NM, Finucane HK, Price AL, Bulik-Sullivan BK, Anttila V, Paternoster L, Gaunt TR, Evans DM, Neale BM. LD Hub: a centralized database and web interface to perform LD score regression that maximizes the potential of summary level GWAS data for SNP heritability and genetic correlation analysis. Bioinformatics. 2017 01 15; 33(2):272-279.

Tas E, Sebastian J, Madan-Khetarpal S, Sweet P, Yatsenko AN, Pollock N, Rajkovic A, Schneck FX, Yatsenko SA, Witchel SF. Familial deletion of the HOXA gene cluster associated with Hand-Foot-Genital syndrome and phenotypic variability. Am J Med Genet A. 2017 Jan; 173(1):221-224.

van der Plas E, Dupuis A, Arnold P, Crosbie J, Schachar R. Association of Autism Spectrum Disorder with Obsessive-Compulsive and Attention-Deficit/Hyperactivity Traits and Response Inhibition in a Community Sample. J Autism Dev Disord. 2016 Sep; 46(9):3115-25.

Tandon I, Razavi A, Ravishankar P, Walker A, Sturdivant NM, Lam NT, Wolchok JC, Balachandran K. Valve interstitial cell shape modulates cell contractility independent of cell phenotype. J Biomech. 2016 10 03; 49(14):3289-3297.

Joshi K, Shen L, Michaeli A, Salter M, Thibault-Messier G, Hashmi S, Eubanks JH, Cortez MA, Snead OC. Infantile spasms in down syndrome: Rescue by knockdown of the GIRK2 channel. Ann Neurol. 2016 10; 80(4):511-21.

Sanses TV, Chelimsky G, McCabe NP, Zolnoun D, Janata J, Elston R, Buffington CA, Simpson P, Zhang L, Chelimsky T. The Pelvis and Beyond: Musculoskeletal Tender Points in Women With Chronic Pelvic Pain. Clin J Pain. 2016 08; 32(8):659-65.

Alfadhel M, Nashabat M, Qahtani HA, Alfares A, Mutairi FA, Shaalan HA, Douglas GV, Wierenga K, Juusola J, Alrifai MT, Arold ST, Alkuraya F, Ali QA. Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans. Hum Genet. 2016 Nov; 135(11):1263-1268.

Arda E, Cakiroglu B, Tas T, Ekici S, Uyanik BS. Use of the UPOINT Classification in Turkish Chronic Prostatitis or Chronic Pelvic Pain Syndrome Patients. Urology. 2016 11; 97:227-231.

Chen W, Liang X, Syed AK, Jessup P, Church WR, Ware J, Josephson CD, Li R. Inhibiting GPIba Shedding Preserves Post-Transfusion Recovery and Hemostatic Function of Platelets After Prolonged Storage. Arterioscler Thromb Vasc Biol. 2016 09; 36(9):1821-8.

Roche PL, Nagalingam RS, Bagchi RA, Aroutiounova N, Belisle BM, Wigle JT, Czubryt MP. Role of scleraxis in mechanical stretch-mediated regulation of cardiac myofibroblast phenotype. Am J Physiol Cell Physiol. 2016 08 01; 311(2):C297-307.

Park YM, Steck SE, Fung TT, Zhang J, Hazlett LJ, Han K, Merchant AT. Mediterranean diet and mortality risk in metabolically healthy obese and metabolically unhealthy obese phenotypes. Int J Obes (Lond). 2016 10; 40(10):1541-1549.

Panasevich MR, Morris EM, Chintapalli SV, Wankhade UD, Shankar K, Britton SL, Koch LG, Thyfault JP, Rector RS. Gut microbiota are linked to increased susceptibility to hepatic steatosis in low-aerobic-capacity rats fed an acute high-fat diet. Am J Physiol Gastrointest Liver Physiol. 2016 07 01; 311(1):G166-79.

Zarate YA, Bhoj E, Kaylor J, Li D, Tsurusaki Y, Miyake N, Matsumoto N, Phadke S, Escobar L, Irani A, Hakonarson H, Schrier Vergano SA. SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases. Am J Med Genet A. 2016 08; 170(8):1967-73.

Iden M, Fye S, Li K, Chowdhury T, Ramchandran R, Rader JS. The lncRNA PVT1 Contributes to the Cervical Cancer Phenotype and Associates with Poor Patient Prognosis. PLoS One. 2016; 11(5):e0156274.

Joo JH, Wang B, Frankel E, Ge L, Xu L, Iyengar R, Li-Harms X, Wright C, Shaw TI, Lindsten T, Green DR, Peng J, Hendershot LM, Kilic F, Sze JY, Audhya A, Kundu M. The Noncanonical Role of ULK/ATG1 in ER-to-Golgi Trafficking Is Essential for Cellular Homeostasis. Mol Cell. 2016 05 19; 62(4):491-506.

Svahn SL, V?remo L, Gabrielsson BG, Peris E, Nookaew I, Grahnemo L, Sandberg AS, Wernstedt Asterholm I, Jansson JO, Nielsen J, Johansson ME. Six Tissue Transcriptomics Reveals Specific Immune Suppression in Spleen by Dietary Polyunsaturated Fatty Acids. PLoS One. 2016; 11(5):e0155099.

Atanassov BS, Mohan RD, Lan X, Kuang X, Lu Y, Lin K, McIvor E, Li W, Zhang Y, Florens L, Byrum SD, Mackintosh SG, Calhoun-Davis T, Koutelou E, Wang L, Tang DG, Tackett AJ, Washburn MP, Workman JL, Dent SY. ATXN7L3 and ENY2 Coordinate Activity of Multiple H2B Deubiquitinases Important for Cellular Proliferation and Tumor Growth. Mol Cell. 2016 05 19; 62(4):558-71.

Petrovski S, K?ry S, Myers CT, Anyane-Yeboa K, Cogn? B, Bialer M, Xia F, Hemati P, Riviello J, Mehaffey M, Besnard T, Becraft E, Wadley A, Politi AR, Colombo S, Zhu X, Ren Z, Andrews I, Dudding-Byth T, Schneider AL, Wallace G, Rosen ABI, Schelley S, Enns GM, Corre P, Dalton J, Mercier S, Latypova X, Schmitt S, Guzman E, Moore C, Bier L, Heinzen EL, Karachunski P, Shur N, Grebe T, Basinger A, Nguyen JM, B?zieau S, Wierenga K, Bernstein JA, Scheffer IE, Rosenfeld JA, Mefford HC, Isidor B, Goldstein DB. Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. Am J Hum Genet. 2016 05 05; 98(5):1001-1010.

Zarate YA, Clingenpeel R, Sellars EA, Tang X, Kaylor JA, Bosanko K, Linam LE, Byers PH. COL1A1 and COL1A2 sequencing results in cohort of patients undergoing evaluation for potential child abuse. Am J Med Genet A. 2016 07; 170(7):1858-62.

Li M, Li J, He Z, Lu Q, Witte JS, Macleod SL, Hobbs CA, Cleves MA. Testing Allele Transmission of an SNP Set Using a Family-Based Generalized Genetic Random Field Method. Genet Epidemiol. 2016 May; 40(4):341-51.

Sadeh N, Wolf EJ, Logue MW, Hayes JP, Stone A, Griffin LM, Schichman SA, Miller MW. EPIGENETIC VARIATION AT SKA2 PREDICTS SUICIDE PHENOTYPES AND INTERNALIZING PSYCHOPATHOLOGY. Depress Anxiety. 2016 Apr; 33(4):308-15.

Tu SM, Bilen MA, Hess KR, Broaddus RR, Kopetz S, Wei C, Pagliaro LC, Karam JA, Ward JF, Wood CG, Rao P, Tu ZH, General R, Chen AH, Nieto YL, Yeung SC, Lin SH, Logothetis CJ, Pisters LL. Intratumoral heterogeneity: Role of differentiation in a potentially lethal phenotype of testicular cancer. Cancer. 2016 06 15; 122(12):1836-43.

Bagchi RA, Roche P, Aroutiounova N, Espira L, Abrenica B, Schweitzer R, Czubryt MP. The transcription factor scleraxis is a critical regulator of cardiac fibroblast phenotype. BMC Biol. 2016 Mar 17; 14:21.

Li J, Pan Q, Rowan PD, Trotter TN, Peker D, Regal KM, Javed A, Suva LJ, Yang Y. Heparanase promotes myeloma progression by inducing mesenchymal features and motility of myeloma cells. Oncotarget. 2016 Mar 08; 7(10):11299-309.

Saraf MK, Herndon DN, Porter C, Toliver-Kinsky T, Radhakrishnan R, Chao T, Chondronikola M, Sidossis LS. Morphological Changes in Subcutaneous White Adipose Tissue After Severe Burn Injury. J Burn Care Res. 2016 Mar-Apr; 37(2):e96-103.

Jacobi JL, Yang B, Li X, Menze AK, Laurentz SM, Janle EM, Ferruzzi MG, McCabe GP, Chapple C, Kirchmaier AL. Impacts on Sirtuin Function and Bioavailability of the Dietary Bioactive Compound Dihydrocoumarin. PLoS One. 2016; 11(2):e0149207.

Cao XX, Sun J, Li J, Zhong DR, Niu N, Duan MH, Liang ZY, Zhou DB. Evaluation of clinicopathologic characteristics and the BRAF V600E mutation in Erdheim-Chester disease among Chinese adults. Ann Hematol. 2016 Apr; 95(5):745-50.

Hazim S, Curtis PJ, Sch?r MY, Ostertag LM, Kay CD, Minihane AM, Cassidy A. Acute benefits of the microbial-derived isoflavone metabolite equol on arterial stiffness in men prospectively recruited according to equol producer phenotype: a double-blind randomized controlled trial. Am J Clin Nutr. 2016 Mar; 103(3):694-702.

Onal M, St John HC, Danielson AL, Pike JW. Deletion of the Distal Tnfsf11 RL-D2 Enhancer That Contributes to PTH-Mediated RANKL Expression in Osteoblast Lineage Cells Results in a High Bone Mass Phenotype in Mice. J Bone Miner Res. 2016 Feb; 31(2):416-29.

Liang X, Syed AK, Russell SR, Ware J, Li R. Dimerization of glycoprotein Iba is not sufficient to induce platelet clearance. J Thromb Haemost. 2016 Feb; 14(2):381-6.

Rettberg JR, Dang H, Hodis HN, Henderson VW, St John JA, Mack WJ, Brinton RD. Identifying postmenopausal women at risk for cognitive decline within a healthy cohort using a panel of clinical metabolic indicators: potential for detecting an at-Alzheimer's risk metabolic phenotype. Neurobiol Aging. 2016 Apr; 40:155-163.

Miaskowski C, Cooper BA, Aouizerat B, Melisko M, Chen LM, Dunn L, Hu X, Kober KM, Mastick J, Levine JD, Hammer M, Wright F, Harris J, Armes J, Furlong E, Fox P, Ream E, Maguire R, Kearney N. The symptom phenotype of oncology outpatients remains relatively stable from prior to through 1?week following chemotherapy. Eur J Cancer Care (Engl). 2017 May; 26(3).

Paiva B, Corchete LA, Vidriales MB, Puig N, Maiso P, Rodriguez I, Alignani D, Burgos L, Sanchez ML, Barcena P, Echeveste MA, Hernandez MT, Garc?a-Sanz R, Ocio EM, Oriol A, Gironella M, Palomera L, De Arriba F, Gonzalez Y, Johnson SK, Epstein J, Barlogie B, Lahuerta JJ, Blade J, Orfao A, Mateos MV, San Miguel JF. Phenotypic and genomic analysis of multiple myeloma minimal residual disease tumor cells: a new model to understand chemoresistance. Blood. 2016 Apr 14; 127(15):1896-906.

Zheng Y, Ding Y, Sun X, Xie S, Wang D, Liu X, Su L, Wei W, Pan L, Zhou DX. Histone deacetylase HDA9 negatively regulates salt and drought stress responsiveness in Arabidopsis. J Exp Bot. 2016 Mar; 67(6):1703-13.

Khattak S, Brimble E, Zhang W, Zaslavsky K, Strong E, Ross PJ, Hendry J, Mital S, Salter MW, Osborne LR, Ellis J. Human induced pluripotent stem cell derived neurons as a model for Williams-Beuren syndrome. Mol Brain. 2015 Nov 24; 8(1):77.

Schroder EA, Harfmann BD, Zhang X, Srikuea R, England JH, Hodge BA, Wen Y, Riley LA, Yu Q, Christie A, Smith JD, Seward T, Wolf Horrell EM, Mula J, Peterson CA, Butterfield TA, Esser KA. Intrinsic muscle clock is necessary for musculoskeletal health. J Physiol. 2015 Dec 15; 593(24):5387-404.

Richards EJ, Permuth-Wey J, Li Y, Chen YA, Coppola D, Reid BM, Lin HY, Teer JK, Berchuck A, Birrer MJ, Lawrenson K, Monteiro AN, Schildkraut JM, Goode EL, Gayther SA, Sellers TA, Cheng JQ. A functional variant in HOXA11-AS, a novel long non-coding RNA, inhibits the oncogenic phenotype of epithelial ovarian cancer. Oncotarget. 2015 Oct 27; 6(33):34745-57.

Brenner MK, Clarke S, Mahnke DK, Simpson P, Bercovitz RS, Tomita-Mitchell A, Mitchell ME, Newman DK. Effect of 22q11.2 deletion on bleeding and transfusion utilization in children with congenital heart disease undergoing cardiac surgery. Pediatr Res. 2016 Feb; 79(2):318-24.

Yan Q, Weeks DE, Celed?n JC, Tiwari HK, Li B, Wang X, Lin WY, Lou XY, Gao G, Chen W, Liu N. Associating Multivariate Quantitative Phenotypes with Genetic Variants in Family Samples with a Novel Kernel Machine Regression Method. Genetics. 2015 Dec; 201(4):1329-39.

Jensen BS, Willer T, Saade DN, Cox MO, Mozaffar T, Scavina M, Stefans VA, Winder TL, Campbell KP, Moore SA, Mathews KD. GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation. Hum Mutat. 2015 Dec; 36(12):1159-63.

B?lici S, Susman S, Rusu D, Nicula GZ, Soritau O, Rusu M, Biris AS, Matei H. Differentiation of stem cells into insulin-producing cells under the influence of nanostructural polyoxometalates. J Appl Toxicol. 2016 Mar; 36(3):373-84.

Mitchell JS, Johnson DC, Litchfield K, Broderick P, Weinhold N, Davies FE, Gregory WA, Jackson GH, Kaiser M, Morgan GJ, Houlston RS. Implementation of genome-wide complex trait analysis to quantify the heritability in multiple myeloma. Sci Rep. 2015 Jul 24; 5:12473.

Zarate YA, Sellars E, Lepard T, Tang X, Collins RT. Aortic dilation, genetic testing, and associated diagnoses. Genet Med. 2016 Apr; 18(4):356-63.

Jiwani S, Bornhost J, Alapat D. Biphenotypic plasma cell myeloma: two cases of plasma cell neoplasm with a coexpression of kappa and lambda light chains. Int J Clin Exp Pathol. 2015; 8(7):8536-44.

Ucer S, Iyer S, Bartell SM, Martin-Millan M, Han L, Kim HN, Weinstein RS, Jilka RL, O'Brien CA, Almeida M, Manolagas SC. The Effects of Androgens on Murine Cortical Bone Do Not Require AR or ERa Signaling in Osteoblasts and Osteoclasts. J Bone Miner Res. 2015 Jul; 30(7):1138-49.

Mustafa MB, Porter SR, Smoller BR, Sitaru C. Oral mucosal manifestations of autoimmune skin diseases. Autoimmun Rev. 2015 Oct; 14(10):930-51.

Fata CR, Seeley EH, Desouki MM, Du L, Gwin K, Hanley KZ, Hecht JL, Jarboe EA, Liang SX, Parkash V, Quick CM, Zheng W, Shyr Y, Caprioli RM, Fadare O. Are clear cell carcinomas of the ovary and endometrium phenotypically identical? A proteomic analysis. Hum Pathol. 2015 Oct; 46(10):1427-36.

Birnkrant DJ, Ararat E, Mhanna MJ. Cardiac phenotype determines survival in Duchenne muscular dystrophy. Pediatr Pulmonol. 2016 Jan; 51(1):70-6.

Sutton J, Orloff MS, Michener C, Chiesa-Vottero A, Prayson R, Nowacki AS, Eng C. Association of specific PTEN/10q haplotypes with endometrial cancer phenotypes in African-American and European American women. Gynecol Oncol. 2015 Aug; 138(2):434-40.

Saulnier Sholler GL, Gerner EW, Bergendahl G, MacArthur RB, VanderWerff A, Ashikaga T, Bond JP, Ferguson W, Roberts W, Wada RK, Eslin D, Kraveka JM, Kaplan J, Mitchell D, Parikh NS, Neville K, Sender L, Higgins T, Kawakita M, Hiramatsu K, Moriya SS, Bachmann AS. A Phase I Trial of DFMO Targeting Polyamine Addiction in Patients with Relapsed/Refractory Neuroblastoma. PLoS One. 2015; 10(5):e0127246.

Onal M, Bishop KA, St John HC, Danielson AL, Riley EM, Piemontese M, Xiong J, Goellner JJ, O'Brien CA, Pike JW. A DNA segment spanning the mouse Tnfsf11 transcription unit and its upstream regulatory domain rescues the pleiotropic biologic phenotype of the RANKL null mouse. J Bone Miner Res. 2015 May; 30(5):855-68.

Zarate YA, Bosanko KA, Bhoj E, Ganetzky R, Starr LJ, Zackai EH, Schaefer GB. Phenotypic modifications of patients with full chromosome aneuploidies and concurrent suspected or confirmed second diagnoses. Am J Med Genet A. 2015 Sep; 167A(9):2168-75.

Garfein RS, Catanzaro DG, Rodwell TC, Avalos E, Jackson RL, Kaping J, Evasco H, Rodrigues C, Crudu V, Lin SY, Groessl E, Groessel E, Hillery N, Trollip A, Ganiats T, Victor TC, Eisenach K, Valafar F, Channick J, Qian L, Catanzaro A. Phenotypic and genotypic diversity in a multinational sample of drug-resistant Mycobacterium tuberculosis isolates. Int J Tuberc Lung Dis. 2015 Apr; 19(4):420-7.

Udager AM, Pan J, Magers MJ, Palapattu GS, Morgan TM, Montgomery JS, Weizer AZ, Hafez KS, Miller DC, Wolf JS, McHugh JB, Chinnaiyan AM, Dhanasekaran SM, Mehra R. Molecular and immunohistochemical characterization reveals novel BRAF mutations in metanephric adenoma. Am J Surg Pathol. 2015 Apr; 39(4):549-57.

Atwood DN, Loughran AJ, Courtney AP, Anthony AC, Meeker DG, Spencer HJ, Gupta RK, Lee CY, Beenken KE, Smeltzer MS. Comparative impact of diverse regulatory loci on Staphylococcus aureus biofilm formation. Microbiologyopen. 2015 Jun; 4(3):436-51.

Walton RG, Zhu B, Unal R, Spencer M, Sunkara M, Morris AJ, Charnigo R, Katz WS, Daugherty A, Howatt DA, Kern PA, Finlin BS. Increasing adipocyte lipoprotein lipase improves glucose metabolism in high fat diet-induced obesity. J Biol Chem. 2015 May 01; 290(18):11547-56.

Yan Q, Tiwari HK, Yi N, Gao G, Zhang K, Lin WY, Lou XY, Cui X, Liu N. A Sequence Kernel Association Test for Dichotomous Traits in Family Samples under a Generalized Linear Mixed Model. Hum Hered. 2015; 79(2):60-8.

Langford DJ, Paul SM, West CM, Dunn LB, Levine JD, Kober KM, Dodd MJ, Miaskowski C, Aouizerat BE. Variations in potassium channel genes are associated with distinct trajectories of persistent breast pain after breast cancer surgery. Pain. 2015 Mar; 156(3):371-380.

Johnson P, Mitchell V, McClure K, Kellems M, Marshall S, Allison MK, Lindley H, Nguyen HT, Tackett JE, Duina AA. A systematic mutational analysis of a histone H3 residue in budding yeast provides insights into chromatin dynamics. G3 (Bethesda). 2015 Feb 23; 5(5):741-9.

Tam NN, Zhang X, Xiao H, Song D, Levin L, Meller J, Ho SM. Increased susceptibility of estrogen-induced bladder outlet obstruction in a novel mouse model. Lab Invest. 2015 May; 95(5):546-60.

Gao Y, Yang P, Shen H, Yu H, Song X, Zhang L, Zhang P, Cheng H, Xie Z, Hao S, Dong F, Ma S, Ji Q, Bartlow P, Ding Y, Wang L, Liu H, Li Y, Cheng H, Miao W, Yuan W, Yuan Y, Cheng T, Xie XQ. Small-molecule inhibitors targeting INK4 protein p18(INK4C) enhance ex vivo expansion of haematopoietic stem cells. Nat Commun. 2015 Feb 18; 6:6328.

Siow D, Sunkara M, Dunn TM, Morris AJ, Wattenberg B. ORMDL/serine palmitoyltransferase stoichiometry determines effects of ORMDL3 expression on sphingolipid biosynthesis. J Lipid Res. 2015 Apr; 56(4):898-908.

Liu S, Storrie B. How Rab proteins determine Golgi structure. Int Rev Cell Mol Biol. 2015; 315:1-22.

Nowacki NB, Arnold MA, Frankel WL, Harzman A, Limketkai BN, Yearsley MM, Arnold CA. Gastrointestinal tract-derived pulse granulomata: clues to an underrecognized pseudotumor. Am J Surg Pathol. 2015 Jan; 39(1):84-92.

Slavotinek A, Kaylor J, Pierce H, Cahr M, DeWard SJ, Schneidman-Duhovny D, Alsadah A, Salem F, Schmajuk G, Mehta L. CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoprotein. Am J Hum Genet. 2015 Jan 08; 96(1):162-9.

Das KC. Thioredoxin-deficient mice, a novel phenotype sensitive to ambient air and hypersensitive to hyperoxia-induced lung injury. Am J Physiol Lung Cell Mol Physiol. 2015 Mar 01; 308(5):L429-42.

Merriman JD, Aouizerat BE, Cataldo JK, Dunn LB, Kober K, Langford DJ, West C, Cooper BA, Paul SM, Miaskowski C. Associations between catecholaminergic, GABAergic, and serotonergic genes and self-reported attentional function in oncology patients and their family caregivers. Eur J Oncol Nurs. 2015 Jun; 19(3):251-9.

Harmon EY, Fronhofer V, Keller RS, Feustel PJ, Zhu X, Xu H, Avram D, Jones DM, Nagarajan S, Lennartz MR. Anti-inflammatory immune skewing is atheroprotective: Apoe-/-Fc?RIIb-/- mice develop fibrous carotid plaques. J Am Heart Assoc. 2014 Dec; 3(6):e001232.

Church RJ, Gatti DM, Urban TJ, Long N, Yang X, Shi Q, Eaddy JS, Mosedale M, Ballard S, Churchill GA, Navarro V, Watkins PB, Threadgill DW, Harrill AH. Sensitivity to hepatotoxicity due to epigallocatechin gallate is affected by genetic background in diversity outbred mice. Food Chem Toxicol. 2015 Feb; 76:19-26.