Alleles
"Alleles" 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.
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
Descriptor ID |
D000483
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MeSH Number(s) |
G05.360.340.024.340.030
|
Concept/Terms |
Alleles- Alleles
- Allele
- Allelomorphs
- Allelomorph
|
Below are MeSH descriptors whose meaning is more general than "Alleles".
Below are MeSH descriptors whose meaning is more specific than "Alleles".
This graph shows the total number of publications written about "Alleles" by people in UAMS Profiles by year, and whether "Alleles" 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 |
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2024 | 0 | 2 | 2 | 2023 | 0 | 4 | 4 | 2021 | 1 | 5 | 6 | 2020 | 0 | 7 | 7 | 2019 | 3 | 8 | 11 | 2018 | 2 | 5 | 7 | 2017 | 1 | 8 | 9 | 2016 | 3 | 9 | 12 | 2015 | 1 | 8 | 9 | 2014 | 0 | 6 | 6 | 2013 | 1 | 10 | 11 | 2012 | 1 | 9 | 10 | 2011 | 0 | 3 | 3 | 2010 | 2 | 5 | 7 | 2009 | 0 | 3 | 3 | 2008 | 0 | 5 | 5 | 2007 | 1 | 2 | 3 | 2006 | 0 | 6 | 6 | 2005 | 1 | 5 | 6 | 2004 | 0 | 8 | 8 | 2003 | 0 | 4 | 4 | 2002 | 0 | 5 | 5 | 2001 | 1 | 4 | 5 | 2000 | 2 | 4 | 6 | 1999 | 0 | 4 | 4 | 1998 | 2 | 0 | 2 | 1997 | 0 | 5 | 5 | 1996 | 2 | 1 | 3 | 1995 | 0 | 1 | 1 | 1994 | 1 | 0 | 1 | 1993 | 1 | 0 | 1 | 1990 | 0 | 1 | 1 |
To return to the timeline, click here.
Below are the most recent publications written about "Alleles" by people in Profiles over the past ten years.
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Protacio RU, Wahls WP. Targeted Forward Genetics: Saturating Mutational Analyses of Specific Target Loci Within the Genome. Methods Mol Biol. 2025; 2862:223-239.
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Byrd SE, Hoyt B, Ozersky SA, Crocker AW, Habenicht D, Nester MR, Prowse H, Turkal CE, Joseph L, Duina AA. Assessing contributions of DNA sequences at the 3' end of a yeast gene on yFACT, RNA polymerase II, and nucleosome occupancy. BMC Res Notes. 2024 Aug 06; 17(1):219.
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Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Le Pichon JB, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Denomm?-Pichon AS, Koh HY, Poduri A, Bolton J, Knopp C, Julia Suh DS, Maier A, Toosi MB, Karimiani EG, Maroofian R, Schaefer GB, Ramakumaran V, Vasudevan P, Prasad C, Osmond M, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H, Bacino CA, Lee BH, Chao HT. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. Am J Hum Genet. 2024 01 04; 111(1):96-118.
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Blue EE, White JJ, Dush MK, Gordon WW, Wyatt BH, White P, Marvin CT, Helle E, Ojala T, Priest JR, Jenkins MM, Almli LM, Reefhuis J, Pangilinan F, Brody LC, McBride KL, Garg V, Shaw GM, Romitti PA, Nembhard WN, Browne ML, Werler MM, Kay DM, Mital S, Chong JX, Nascone-Yoder NM, Bamshad MJ. Rare variants in CAPN2 increase risk for isolated hypoplastic left heart syndrome. HGG Adv. 2023 10 12; 4(4):100232.
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Staedtke V, Topilko P, Le LQ, Grimes K, Largaespada DA, Cagan RL, Steensma MR, Stemmer-Rachamimov A, Blakeley JO, Rhodes SD, Ly I, Romo CG, Lee SY, Serra E. Existing and Developing Preclinical Models for Neurofibromatosis Type 1-Related Cutaneous Neurofibromas. J Invest Dermatol. 2023 08; 143(8):1378-1387.
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Borst AJ, Hammill AM, Crary SE, McLean TW, Felton T, Blatt J. Barriers to Genetic Testing in Vascular Malformations. JAMA Netw Open. 2023 05 01; 6(5):e2314829.
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Zongo SV, Djigma FW, Yonli AT, Sorgho PA, Nagalo BM, Traore L, Somda D, Amegnona LJ, Languie E, Some CCB, Sia LMJ, Sourabie IB, Sombie RA, Serme AK, Obiri-Yeboah D, Simpore J. Association of DRB1*11 and DRB1*12 alleles of the HLA system with the evolution of the Hepatitis B virus infection in Burkina Faso. Mol Biol Rep. 2023 Jun; 50(6):5039-5047.
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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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Meng L, Kaufmann WE, Frye RE, Ong K, Kaminski JW, Velinov M, Berry-Kravis E. The association between mosaicism type and cognitive and behavioral functioning among males with fragile X syndrome. Am J Med Genet A. 2022 03; 188(3):858-866.
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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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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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Salo-Mullen EE, Maio A, Mukherjee S, Bandlamudi C, Shia J, Kemel Y, Cadoo KA, Liu Y, Carlo M, Ranganathan M, Kane S, Srinivasan P, Chavan SS, Donoghue MTA, Bourque C, Sheehan M, Tejada PR, Patel Z, Arnold AG, Kennedy JA, Amoroso K, Breen K, Catchings A, Sacca R, Marcell V, Markowitz AJ, Latham A, Walsh M, Misyura M, Ceyhan-Birsoy O, Solit DB, Berger MF, Robson ME, Taylor BS, Offit K, Mandelker D, Stadler ZK. Prevalence and Characterization of Biallelic and Monoallelic NTHL1 and MSH3 Variant Carriers From a Pan-Cancer Patient Population. JCO Precis Oncol. 2021; 5.
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Coignard J, Lush M, Beesley J, O'Mara TA, Dennis J, Tyrer JP, Barnes DR, McGuffog L, Leslie G, Bolla MK, Adank MA, Agata S, Ahearn T, Aittom?ki K, Andrulis IL, Anton-Culver H, Arndt V, Arnold N, Aronson KJ, Arun BK, Augustinsson A, Azzollini J, Barrowdale D, Baynes C, Becher H, Bermisheva M, Bernstein L, Bialkowska K, Blomqvist C, Bojesen SE, Bonanni B, Borg A, Brauch H, Brenner H, Burwinkel B, Buys SS, Cald?s T, Caligo MA, Campa D, Carter BD, Castelao JE, Chang-Claude J, Chanock SJ, Chung WK, Claes KBM, Clarke CL, Coll?e JM, Conroy DM, Czene K, Daly MB, Devilee P, Diez O, Ding YC, Domchek SM, D?rk T, Dos-Santos-Silva I, Dunning AM, Dwek M, Eccles DM, Eliassen AH, Engel C, Eriksson M, Evans DG, Fasching PA, Flyger H, Fostira F, Friedman E, Fritschi L, Frost D, Gago-Dominguez M, Gapstur SM, Garber J, Garcia-Barberan V, Garc?a-Closas M, Garc?a-S?enz JA, Gaudet MM, Gayther SA, Gehrig A, Georgoulias V, Giles GG, Godwin AK, Goldberg MS, Goldgar DE, Gonz?lez-Neira A, Greene MH, Gu?nel P, Haeberle L, Hahnen E, Haiman CA, H?kansson N, Hall P, Hamann U, Harrington PA, Hart SN, He W, Hogervorst FBL, Hollestelle A, Hopper JL, Horcasitas DJ, Hulick PJ, Hunter DJ, Imyanitov EN, Jager A, Jakubowska A, James PA, Jensen UB, John EM, Jones ME, Kaaks R, Kapoor PM, Karlan BY, Keeman R, Khusnutdinova E, Kiiski JI, Ko YD, Kosma VM, Kraft P, Kurian AW, Laitman Y, Lambrechts D, Le Marchand L, Lester J, Lesueur F, Lindstrom T, Lopez-Fern?ndez A, Loud JT, Luccarini C, Mannermaa A, Manoukian S, Margolin S, Martens JWM, Mebirouk N, Meindl A, Miller A, Milne RL, Montagna M, Nathanson KL, Neuhausen SL, Nevanlinna H, Nielsen FC, O'Brien KM, Olopade OI, Olson JE, Olsson H, Osorio A, Ottini L, Park-Simon TW, Parsons MT, Pedersen IS, Peshkin B, Peterlongo P, Peto J, Pharoah PDP, Phillips KA, Polley EC, Poppe B, Presneau N, Pujana MA, Punie K, Radice P, Rantala J, Rashid MU, Rennert G, Rennert HS, Robson M, Romero A, Rossing M, Saloustros E, Sandler DP, Santella R, Scheuner MT, Schmidt MK, Schmidt G, Scott C, Sharma P, Soucy P, Southey MC, Spinelli JJ, Steinsnyder Z, Stone J, Stoppa-Lyonnet D, Swerdlow A, Tamimi RM, Tapper WJ, Taylor JA, Terry MB, Teul? A, Thull DL, Tischkowitz M, Toland AE, Torres D, Trainer AH, Truong T, Tung N, Vachon CM, Vega A, Vijai J, Wang Q, Wappenschmidt B, Weinberg CR, Weitzel JN, Wendt C, Wolk A, Yadav S, Yang XR, Yannoukakos D, Zheng W, Ziogas A, Zorn KK, Park SK, Thomassen M, Offit K, Schmutzler RK, Couch FJ, Simard J, Chenevix-Trench G, Easton DF, Andrieu N, Antoniou AC. A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers. Nat Commun. 2021 02 17; 12(1):1078.
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Boyle EM, Deshpande S, Tytarenko R, Ashby C, Wang Y, Bauer MA, Johnson SK, Wardell CP, Thanendrarajan S, Zangari M, Facon T, Dumontet C, Barlogie B, Arbini A, Rustad EH, Maura F, Landgren O, Zhan F, van Rhee F, Schinke C, Davies FE, Morgan GJ, Walker BA. The molecular make up of smoldering myeloma highlights the evolutionary pathways leading to multiple myeloma. Nat Commun. 2021 01 12; 12(1):293.
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Jin J, Robeson H, Fagan P, Orloff MS. Association of PARP1-specific polymorphisms and haplotypes with non-small cell lung cancer subtypes. PLoS One. 2020; 15(12):e0243509.
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Chen J, Gao XM, Zhao H, Cai H, Zhang L, Cao XX, Zhou DB, Li J. A highly heterogeneous mutational pattern in POEMS syndrome. Leukemia. 2021 04; 35(4):1100-1107.
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Deshpande S, Tytarenko RG, Wang Y, Boyle EM, Ashby C, Schinke CD, Thanendrarajan S, Zangari M, Zhan F, Davies FE, Morgan GJ, van Rhee F, Walker BA. Monitoring treatment response and disease progression in myeloma with circulating cell-free DNA. Eur J Haematol. 2021 Feb; 106(2):230-240.
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Wolf EJ, Chen CD, Zhao X, Zhou Z, Morrison FG, Daskalakis NP, Stone A, Schichman S, Grenier JG, Fein-Schaffer D, Huber BR, Abraham CR, Miller MW, Logue MW. Klotho, PTSD, and advanced epigenetic age in cortical tissue. Neuropsychopharmacology. 2021 03; 46(4):721-730.
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Prudencio M, Garcia-Moreno H, Jansen-West KR, Al-Shaikh RH, Gendron TF, Heckman MG, Spiegel MR, Carlomagno Y, Daughrity LM, Song Y, Dunmore JA, Byron N, Oskarsson B, Nicholson KA, Staff NP, Gorcenco S, Puschmann A, Lemos J, Janu?rio C, LeDoux MS, Friedman JH, Polke J, Labrum R, Shakkottai V, McLoughlin HS, Paulson HL, Konno T, Onodera O, Ikeuchi T, Tada M, Kakita A, Fryer JD, Karremo C, Gomes I, Caviness JN, Pittelkow MR, Aasly J, Pfeiffer RF, Veerappan V, Eggenberger ER, Freeman WD, Huang JF, Uitti RJ, Wierenga KJ, Marin Collazo IV, Tipton PW, van Gerpen JA, van Blitterswijk M, Bu G, Wszolek ZK, Giunti P, Petrucelli L. Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3. Sci Transl Med. 2020 10 21; 12(566).
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Arsenault SV, King JT, Kay S, Lacy KD, Ross KG, Hunt BG. Simple inheritance, complex regulation: Supergene-mediated fire ant queen polymorphism. Mol Ecol. 2020 10; 29(19):3622-3636.
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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.
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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.
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Alkhuriji AF, Al Omar SY, Babay ZA, El-Khadragy MF, Mansour LA, Alharbi WG, Khalil MI. Association of IL-1?, IL-6, TNF-a, and TGF?1 Gene Polymorphisms with Recurrent Spontaneous Abortion in Polycystic Ovary Syndrome. Dis Markers. 2020; 2020:6076274.
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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.
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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.
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Koski L, DeBess E, Rosen HE, Reporter R, Waltz T, Leeper M, Concepcion Acevedo J, Karp?kov? R, McCormick J, Gelbicova T, Morningstar-Shaw B, Nichols M, Leman RF. An investigation of Salmonella Fluntern illnesses linked to leopard geckos-United States, 2018. Zoonoses Public Health. 2019 12; 66(8):974-977.
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Munawar U, Rasche L, M?ller N, Vogt C, Da-Via M, Haertle L, Arampatzi P, Dietrich S, Roth M, Garitano-Trojaola A, Steinhardt MJ, Strifler S, Gallardo M, Martinez-Lopez J, Bargou RC, Heckel T, Einsele H, St?hmer T, Kort?m KM, Barrio S. Hierarchy of mono- and biallelic TP53 alterations in multiple myeloma cell fitness. Blood. 2019 09 05; 134(10):836-840.
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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.
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Lovallo WR, Cohoon AJ, Sorocco KH, Vincent AS, Acheson A, Hodgkinson CA, Goldman D. Early-Life Adversity and Blunted Stress Reactivity as Predictors of Alcohol and Drug use in Persons With COMT (rs4680) Val158Met Genotypes. Alcohol Clin Exp Res. 2019 07; 43(7):1519-1527.
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Abu-Hassan DW, Alhouri AN, Altork NA, Shkoukani ZW, Altamimi TS, Alqaisi OM, Mustafa B. MTHFR gene polymorphisms in hypothyroidism and hyperthyroidism among Jordanian females. Arch Endocrinol Metab. 2019 May-Jun; 63(3):280-287.
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Schulze KV, Bhatt A, Azamian MS, Sundgren NC, Zapata GE, Hernandez P, Fox K, Kaiser JR, Belmont JW, Hanchard NA. Aberrant DNA methylation as a diagnostic biomarker of diabetic embryopathy. Genet Med. 2019 11; 21(11):2453-2461.
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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.
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Wolf EJ, Morrison FG, Sullivan DR, Logue MW, Guetta RE, Stone A, Schichman SA, McGlinchey RE, Milberg WP, Miller MW. The goddess who spins the thread of life: Klotho, psychiatric stress, and accelerated aging. Brain Behav Immun. 2019 08; 80:193-203.
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Shahid M, Kim J, Leaver K, Hendershott T, Zhu D, Cholerton B, Henderson VW, Tian L, Poston KL. An increased rate of longitudinal cognitive decline is observed in Parkinson's disease patients with low CSF A?42 and an APOE e4 allele. Neurobiol Dis. 2019 07; 127:278-286.
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Venugopal G, O'Regan NL, Babu S, Schumann RR, Srikantam A, Merle R, Hartmann S, Steinfelder S. Association of a PD-L2 Gene Polymorphism with Chronic Lymphatic Filariasis in a South Indian Cohort. Am J Trop Med Hyg. 2019 02; 100(2):344-350.
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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.
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Went M, Sud A, Speedy H, Sunter NJ, F?rsti A, Law PJ, Johnson DC, Mirabella F, Holroyd A, Li N, Orlando G, Weinhold N, van Duin M, Chen B, Mitchell JS, Mansouri L, Juliusson G, Smedby KE, Jayne S, Majid A, Dearden C, Allsup DJ, Bailey JR, Pratt G, Pepper C, Fegan C, Rosenquist R, Kuiper R, Stephens OW, Bertsch U, Broderick P, Einsele H, Gregory WM, Hillengass J, Hoffmann P, Jackson GH, J?ckel KH, Nickel J, N?then MM, da Silva Filho MI, Thomsen H, Walker BA, Broyl A, Davies FE, Hansson M, Goldschmidt H, Dyer MJS, Kaiser M, Sonneveld P, Morgan GJ, Hemminki K, Nilsson B, Catovsky D, Allan JM, Houlston RS. Genetic correlation between multiple myeloma and chronic lymphocytic leukaemia provides evidence for shared aetiology. Blood Cancer J. 2018 12 21; 9(1):1.
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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.
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Slone J, Peng Y, Chamberlin A, Harris B, Kaylor J, McDonald MT, Lemmon M, El-Dairi MA, Tchapyjnikov D, Gonzalez-Krellwitz LA, Sellars EA, McConkie-Rosell A, Reinholdt LG, Huang T. Biallelic mutations in FDXR cause neurodegeneration associated with inflammation. J Hum Genet. 2018 Dec; 63(12):1211-1222.
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Wang CC, Ortiz-Gonz?lez XR, Yum SW, Gill SM, White A, Kelter E, Seaver LH, Lee S, Wiley G, Gaffney PM, Wierenga KJ, Rasband MN. ?IV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy. Am J Hum Genet. 2018 06 07; 102(6):1158-1168.
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Ali M, Ajore R, Wihlborg AK, Niroula A, Swaminathan B, Johnsson E, Stephens OW, Morgan G, Meissner T, Turesson I, Goldschmidt H, Mellqvist UH, Gullberg U, Hansson M, Hemminki K, Nahi H, Waage A, Weinhold N, Nilsson B. The multiple myeloma risk allele at 5q15 lowers ELL2 expression and increases ribosomal gene expression. Nat Commun. 2018 04 25; 9(1):1649.
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Prokop JW, Yeo NC, Ottmann C, Chhetri SB, Florus KL, Ross EJ, Sosonkina N, Link BA, Freedman BI, Coppola CJ, McDermott-Roe C, Leysen S, Milroy LG, Meijer FA, Geurts AM, Rauscher FJ, Ramaker R, Flister MJ, Jacob HJ, Mendenhall EM, Lazar J. Characterization of Coding/Noncoding Variants for SHROOM3 in Patients with CKD. J Am Soc Nephrol. 2018 05; 29(5):1525-1535.
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Iqbal S, Lockett GA, Holloway JW, Arshad SH, Zhang H, Kaushal A, Tetali SR, Mukherjee N, Karmaus WJJ. Changes in DNA Methylation from Age 18 to Pregnancy in Type 1, 2, and 17 T Helper and Regulatory T-Cells Pathway Genes. Int J Mol Sci. 2018 Feb 06; 19(2).
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Nembhard WN, Tang X, Li J, MacLeod SL, Levy J, Schaefer GB, Hobbs CA. A parent-of-origin analysis of paternal genetic variants and increased risk of conotruncal heart defects. Am J Med Genet A. 2018 03; 176(3):609-617.
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Peng Y, Shinde DN, Valencia CA, Mo JS, Rosenfeld J, Truitt Cho M, Chamberlin A, Li Z, Liu J, Gui B, Brockhage R, Basinger A, Alvarez-Leon B, Heydemann P, Magoulas PL, Lewis AM, Scaglia F, Gril S, Chong SC, Bower M, Monaghan KG, Willaert R, Plona MR, Dineen R, Milan F, Hoganson G, Powis Z, Helbig KL, Keller-Ramey J, Harris B, Anderson LC, Green T, Sukoff Rizzo SJ, Kaylor J, Chen J, Guan MX, Sellars E, Sparagana SP, Gibson JB, Reinholdt LG, Tang S, Huang T. Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy. Hum Mol Genet. 2017 12 15; 26(24):4937-4950.
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Knox B, Wang Y, Rogers LJ, Xuan J, Yu D, Guan H, Chen J, Shi T, Ning B, Kadlubar SA. A functional SNP in the 3'-UTR of TAP2 gene interacts with microRNA hsa-miR-1270 to suppress the gene expression. Environ Mol Mutagen. 2018 03; 59(2):134-143.
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Sharma R, Harris VM, Cavett J, Kurien BT, Liu K, Koelsch KA, Fayaaz A, Chaudhari KS, Radfar L, Lewis D, Stone DU, Kaufman CE, Li S, Segal B, Wallace DJ, Weisman MH, Venuturupalli S, Kelly JA, Pons-Estel B, Jonsson R, Lu X, Gottenberg JE, Anaya JM, Cunninghame-Graham DS, Huang AJW, Brennan MT, Hughes P, Alevizos I, Miceli-Richard C, Keystone EC, Bykerk VP, Hirschfield G, Nordmark G, Bucher SM, Eriksson P, Omdal R, Rhodus NL, Rischmueller M, Rohrer M, Wahren-Herlenius M, Witte T, Alarc?n-Riquelme M, Mariette X, Lessard CJ, Harley JB, Ng WF, Rasmussen A, Sivils KL, Scofield RH. Rare X Chromosome Abnormalities in Systemic Lupus Erythematosus and Sj?gren's Syndrome. Arthritis Rheumatol. 2017 11; 69(11):2187-2192.
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Li N, Johnson DC, Weinhold N, Kimber S, Dobbins SE, Mitchell JS, Kinnersley B, Sud A, Law PJ, Orlando G, Scales M, Wardell CP, F?rsti A, Hoang PH, Went M, Holroyd A, Hariri F, Pastinen T, Meissner T, Goldschmidt H, Hemminki K, Morgan GJ, Kaiser M, Houlston RS. Genetic Predisposition to Multiple Myeloma at 5q15 Is Mediated by an ELL2 Enhancer Polymorphism. Cell Rep. 2017 Sep 12; 20(11):2556-2564.
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Leo PJ, Madeleine MM, Wang S, Schwartz SM, Newell F, Pettersson-Kymmer U, Hemminki K, Hallmans G, Tiews S, Steinberg W, Rader JS, Castro F, Safaeian M, Franco EL, Coutl?e F, Ohlsson C, Cortes A, Marshall M, Mukhopadhyay P, Cremin K, Johnson LG, Trimble CL, Garland S, Tabrizi SN, Wentzensen N, Sitas F, Little J, Cruickshank M, Frazer IH, Hildesheim A, Brown MA. Defining the genetic susceptibility to cervical neoplasia-A genome-wide association study. PLoS Genet. 2017 08; 13(8):e1006866.
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