 Phenotype
"Phenotype" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
| Descriptor ID |
D010641
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| MeSH Number(s) |
G05.695
|
| Concept/Terms |
|
Below are MeSH descriptors whose meaning is more general than "Phenotype".
Below are MeSH descriptors whose meaning is more specific than "Phenotype".
This graph shows the total number of publications written about "Phenotype" by people in UAMS Profiles by year, and whether "Phenotype" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2025 | 1 | 4 | 5 | | 2024 | 2 | 12 | 14 | | 2023 | 0 | 7 | 7 | | 2022 | 0 | 11 | 11 | | 2021 | 0 | 12 | 12 | | 2020 | 3 | 15 | 18 | | 2019 | 1 | 23 | 24 | | 2018 | 5 | 21 | 26 | | 2017 | 2 | 21 | 23 | | 2016 | 8 | 20 | 28 | | 2015 | 1 | 15 | 16 | | 2014 | 1 | 18 | 19 | | 2013 | 1 | 24 | 25 | | 2012 | 0 | 20 | 20 | | 2011 | 0 | 12 | 12 | | 2010 | 1 | 10 | 11 | | 2009 | 0 | 11 | 11 | | 2008 | 2 | 9 | 11 | | 2007 | 0 | 6 | 6 | | 2006 | 1 | 12 | 13 | | 2005 | 1 | 11 | 12 | | 2004 | 0 | 15 | 15 | | 2003 | 0 | 14 | 14 | | 2002 | 0 | 9 | 9 | | 2001 | 0 | 6 | 6 | | 2000 | 0 | 4 | 4 | | 1999 | 0 | 2 | 2 | | 1998 | 0 | 1 | 1 | | 1997 | 0 | 1 | 1 | | 1996 | 0 | 2 | 2 | | 1995 | 0 | 1 | 1 | | 1994 | 0 | 4 | 4 | | 1993 | 0 | 1 | 1 | | 1990 | 0 | 1 | 1 |
To return to the timeline, click here.
Below are the most recent publications written about "Phenotype" by people in Profiles over the past ten years.
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Jian X, Zhang D, Yu Z, Xu H, Bian J, Wu Y, Tong J, Chen Y. Leveraging undecided cases in chart-reviewed phenotypes to enhance EHR-based association studies. J Biomed Inform. 2025 Jun; 166:104839.
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Mak CCY, Klinkhammer H, Choufani S, Reko N, Christman AK, Pisan E, Chui MMC, Lee M, Leduc F, Dempsey JC, Sanchez-Lara PA, Bombei HM, Bernat JA, Faivre L, Mau-Them FT, Palafoll IV, Canham N, Sarkar A, Zarate YA, Callewaert B, Bukowska-Olech E, Jamsheer A, Zankl A, Willems M, Duncan L, Isidor B, Cogne B, Boute O, Vanlerberghe C, Goldenberg A, Stolerman E, Low KJ, Gilard V, Amiel J, Lin AE, Gordon CT, Doherty D, Krawitz PM, Weksberg R, Hsieh TC, Chung BHY. Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics. EBioMedicine. 2025 May; 115:105677.
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Rahmatallah Y, Glazko G. Improving data interpretability with new differential sample variance gene set tests. BMC Bioinformatics. 2025 Apr 14; 26(1):103.
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Zhou M, Tang AS, Zhang H, Xu Z, Ke AMC, Su C, Huang Y, Mantyh WG, Jaffee MS, Rankin KP, DeKosky ST, Zhou J, Guo Y, Bian J, Sirota M, Wang F. Identifying progression subphenotypes of Alzheimer's disease from large-scale electronic health records with machine learning. J Biomed Inform. 2025 May; 165:104820.
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Kabir A, Kelley WG, Glover C, Erol E, Helmy YA. Phenotypic and genotypic characterization of antimicrobial resistance and virulence profiles of Salmonella enterica serotypes isolated from necropsied horses in Kentucky. Microbiol Spectr. 2025 Mar 04; 13(3):e0250124.
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Elkhateeb N, Crookes R, Spiller M, Pavinato L, Palermo F, Brusco A, Parker M, Park SM, Mendes AC, Saraiva JM, Hammer TB, Nazaryan-Petersen L, Barakat TS, Wilke M, Bhoj E, Ahrens-Nicklas RC, Li D, Nomakuchi T, Brilstra EH, Hunt D, Johnson D, Mansour S, Oprych K, Mehta SG, Platzer K, Schnabel F, Kiep H, Faust H, Prinzing G, Wiltrout K, Radley JA, Serrano Russi AH, Atallah I, Campos-Xavier B, Amor DJ, Morgan AT, Fagerberg C, Andersen UA, Andersen CB, Bijlsma EK, Bird LM, Mullegama SV, Green A, Isidor B, Cogn? B, Kenny J, Lynch SA, Quin S, Low K, Herget T, Kort?m F, Levy RJ, Morrison JL, Wheeler PG, Narumanch T, Peron K, Matthews N, Uhlman J, Bell L, Pang L, Scurr I, Belles RS, Salbert BA, Schaefer GB, Green S, Ros A, Rodr?guez-Palmero A, Vi?njar T, Writzl K, Vasudevan PC, Balasubramanian M. Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder. Genet Med. 2025 Mar; 27(3):101348.
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Schuetze KB, Stratton MS, Bagchi RA, Hobby ARH, Felisbino MB, Rubino M, Toni LS, Reges C, Cavasin MA, McMahan RH, Alexanian M, Vagnozzi RJ, McKinsey TA. BRD4 inhibition rewires cardiac macrophages toward a protective phenotype marked by low MHC class II expression. Am J Physiol Heart Circ Physiol. 2025 Feb 01; 328(2):H294-H309.
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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.
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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).
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Li P, Spector E, Alkhuzam K, Patel R, Donahoo WT, Bost S, Lyu T, Wu Y, Hogan W, Prosperi M, Dixon BE, Dabelea D, Utidjian LH, Crume TL, Thorpe L, Liese AD, Schatz DA, Atkinson MA, Haller MJ, Shenkman EA, Guo Y, Bian J, Shao H. Developing an automated algorithm for identification of children and adolescents with diabetes using electronic health records from the OneFlorida+ clinical research network. Diabetes Obes Metab. 2025 Jan; 27(1):102-110.
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Jeong JW, Lee MH, Behen M, Uda H, Gjolaj N, Luat A, Asano E, Juh?sz C. Quantitative phenotyping of verbal and non-verbal cognitive impairment using diffusion-weighted MRI connectome: Preliminary study of the crowding effect in children with left hemispheric epilepsy. Epilepsy Behav. 2024 Nov; 160:110009.
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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 08 09; 7(1):962.
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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.
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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.
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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.
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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.
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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.
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Mahmood L, Keskin S, Jefferson AA. Precision care in the treatment of pediatric asthma. Curr Opin Pediatr. 2024 06 01; 36(3):304-309.
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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.
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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.
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Saxena D, Tiwari AK, Prasad R, Srivastav S. Resolving fetal hydrops - A rare entity. Eur J Med Genet. 2023 Dec; 66(12):104888.
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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.
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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.
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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.
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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.
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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.
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Liu J, 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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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Fowlkes JL, Thrailkill KM, Bunn RC. RASopathies: The musculoskeletal consequences and their etiology and pathogenesis. Bone. 2021 11; 152:116060.
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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.
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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.
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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.
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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.
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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.
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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).
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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.
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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.
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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.
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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.
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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.
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