Below are the most recent publications written about "Genetic Association Studies" by people in Profiles.
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Azab B, Rabab'h O, Aburizeg D, Mohammad H, Dardas Z, Mustafa L, Khasawneh RA, Awad H, Hatmal MM, Altamimi E. Potential Composite Digenic Contribution of NPC1 and NOD2 Leading to Atypical Lethal Niemann-Pick Type C with Initial Crohn's Disease-like Presentation: Genotype-Phenotype Correlation Study. Genes (Basel). 2022 May 29; 13(6).
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Bertacchi M, Tocco C, Schaaf CP, Studer M. Pathophysiological Heterogeneity of the BBSOA Neurodevelopmental Syndrome. Cells. 2022 04 08; 11(8).
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Baxter SM, Posey JE, Lake NJ, Sobreira N, Chong JX, Buyske S, Blue EE, Chadwick LH, Coban-Akdemir ZH, Doheny KF, Davis CP, Lek M, Wellington C, Jhangiani SN, Gerstein M, Gibbs RA, Lifton RP, MacArthur DG, Matise TC, Lupski JR, Valle D, Bamshad MJ, Hamosh A, Mane S, Nickerson DA, Rehm HL, O'Donnell-Luria A. Centers for Mendelian Genomics: A decade of facilitating gene discovery. Genet Med. 2022 04; 24(4):784-797.
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Rebmann V, Schwich E, Michita RT, Grüntkemeier L, Bittner AK, Rohn H, Horn PA, Hoffmann O, Kimmig R, Kasimir-Bauer S. Systematic Evaluation of HLA-G 3'Untranslated Region Variants in Locally Advanced, Non-Metastatic Breast Cancer Patients: UTR-1, 2 or UTR-4 are Predictors for Therapy and Disease Outcome. Front Immunol. 2021; 12:817132.
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Gorlova OY, Xiao X, Tsavachidis S, Amos CI, Gorlov IP. SNP characteristics and validation success in genome wide association studies. Hum Genet. 2022 Feb; 141(2):229-238.
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Fasham J, Lin S, Ghosh P, Radio FC, Farrow EG, Thiffault I, Kussman J, Zhou D, Hemming R, Zahka K, Chioza BA, Rawlins LE, Wenger OK, Gunning AC, Pizzi S, Onesimo R, Zampino G, Barker E, Osawa N, Rodriguez MC, Neuhann TM, Zackai EH, Keena B, Capasso J, Levin AV, Bhoj E, Li D, Hakonarson H, Wentzensen IM, Jackson A, Chandler KE, Coban-Akdemir ZH, Posey JE, Banka S, Lupski JR, Sheppard SE, Tartaglia M, Triggs-Raine B, Crosby AH, Baple EL. Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency. Genet Med. 2022 03; 24(3):631-644.
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Scott O, Dadi H, Vong L, Pasternak Y, Garkaby J, Willett Pachul J, Mandola AB, Brager R, Hostoffer R, Nahum A, Roifman CM. DNA-Binding domain mutations confer severe outcome at an early age among STAT1 gain-of-function patients. Pediatr Allergy Immunol. 2022 01; 33(1):e13694.
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Hanson J, Brezavar D, Hughes S, Amudhavalli S, Fleming E, Zhou D, Alaimo JT, Bonnen PE. TAB2 variants cause cardiovascular heart disease, connective tissue disorder, and developmental delay. Clin Genet. 2022 02; 101(2):214-220.
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Yabumoto M, Kianmahd J, Singh M, Palafox MF, Wei A, Elliott K, Goodloe DH, Dean SJ, Gooch C, Murray BK, Swartz E, Schrier Vergano SA, Towne MC, Nugent K, Roeder ER, Kresge C, Pletcher BA, Grand K, Graham JM, Gates R, Gomez-Ospina N, Ramanathan S, Clark RD, Glaser K, Benke PJ, Cohen JS, Fatemi A, Mu W, Baranano KW, Madden JA, Gubbels CS, Yu TW, Agrawal PB, Chambers MK, Phornphutkul C, Pugh JA, Tauber KA, Azova S, Smith JR, O'Donnell-Luria A, Medsker H, Srivastava S, Krakow D, Schweitzer DN, Arboleda VA. Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms. Mol Genet Genomic Med. 2021 10; 9(10):e1809.
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Cade BE, Lee J, Sofer T, Wang H, Zhang M, Chen H, Gharib SA, Gottlieb DJ, Guo X, Lane JM, Liang J, Lin X, Mei H, Patel SR, Purcell SM, Saxena R, Shah NA, Evans DS, Hanis CL, Hillman DR, Mukherjee S, Palmer LJ, Stone KL, Tranah GJ, Abecasis GR, Boerwinkle EA, Correa A, Cupples LA, Kaplan RC, Nickerson DA, North KE, Psaty BM, Rotter JI, Rich SS, Tracy RP, Vasan RS, Wilson JG, Zhu X, Redline S. Whole-genome association analyses of sleep-disordered breathing phenotypes in the NHLBI TOPMed program. Genome Med. 2021 08 26; 13(1):136.