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Page 1
Genetic examination of hematological parameters in SARS-CoV-2 infection and COVID-19.
Sun Q, Rowland B, Wang W, Miller-Fleming TW, Cox N, Graff M, Faucon A, Shuey MM, Blue EE, Auer P, Li Y, Sankaran VG, Reiner AP, Raffield LM. Sun Q, et al. Among authors: blue ee. Blood Cells Mol Dis. 2023 Nov;103:102782. doi: 10.1016/j.bcmd.2023.102782. Epub 2023 Jul 20. Blood Cells Mol Dis. 2023. PMID: 37558590
Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate.
Cox LL, Cox TC, Moreno Uribe LM, Zhu Y, Richter CT, Nidey N, Standley JM, Deng M, Blue E, Chong JX, Yang Y, Carstens RP, Anand D, Lachke SA, Smith JD, Dorschner MO, Bedell B, Kirk E, Hing AV, Venselaar H, Valencia-Ramirez LC, Bamshad MJ, Glass IA, Cooper JA, Haan E, Nickerson DA, van Bokhoven H, Zhou H, Krahn KN, Buckley MF, Murray JC, Lidral AC, Roscioli T. Cox LL, et al. Am J Hum Genet. 2018 Jun 7;102(6):1143-1157. doi: 10.1016/j.ajhg.2018.04.009. Epub 2018 May 24. Am J Hum Genet. 2018. PMID: 29805042 Free PMC article.
Large-scale sequencing studies expand the known genetic architecture of Alzheimer's disease.
Xue D, Bush WS, Renton AE, Marcora EA, Bis JC, Kunkle BW; Alzheimer's Disease Sequencing Project; Boerwinkle E, DeStefano AL, Farrer L, Goate A, Mayeux R, Pericak-Vance M, Schellenberg G, Seshadri S, Wijsman E, Haines JL, Blue EE. Xue D, et al. Among authors: blue ee. Alzheimers Dement (Amst). 2021 Dec 31;13(1):e12255. doi: 10.1002/dad2.12255. eCollection 2021. Alzheimers Dement (Amst). 2021. PMID: 35005195 Free PMC article.
Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation.
Shimada S, Ng BG, White AL, Nickander KK, Turgeon C, Liedtke KL, Lam CT, Font-Montgomery E, Lourenco CM, He M, Peck DS, Umana LA, Uhles CL, Haynes D, Wheeler PG, Bamshad MJ, Nickerson DA, Cushing T, Gates R, Gomez-Ospina N, Byers HM; UW Center for Mendelian Genomics; Scalco FB, Martinez NN, Sachdev R, Smith L, Poduri A, Malone S, Harris RV, Scheffer IE, Rosenzweig SD, Adams DR, Gahl WA, Malicdan MCV, Raymond KM, Freeze HH, Wolfe LA. Shimada S, et al. J Med Genet. 2022 Jul 5:jmedgenet-2021-108177. doi: 10.1136/jmedgenet-2021-108177. Online ahead of print. J Med Genet. 2022. PMID: 35790351 Free PMC article.
Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans.
Cox TC, Lidral AC, McCoy JC, Liu H, Cox LL, Zhu Y, Anderson RD, Moreno Uribe LM, Anand D, Deng M, Richter CT, Nidey NL, Standley JM, Blue EE, Chong JX, Smith JD, Kirk EP, Venselaar H, Krahn KN, van Bokhoven H, Zhou H, Cornell RA, Glass IA, Bamshad MJ, Nickerson DA, Murray JC, Lachke SA, Thompson TB, Buckley MF, Roscioli T. Cox TC, et al. Among authors: blue ee. Hum Mutat. 2019 Oct;40(10):1813-1825. doi: 10.1002/humu.23793. Epub 2019 Jun 18. Hum Mutat. 2019. PMID: 31215115 Free PMC article.
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.
Serpieri V, D'Abrusco F, Dempsey JC, Cheng YH, Arrigoni F, Baker J, Battini R, Bertini ES, Borgatti R, Christman AK, Curry C, D'Arrigo S, Fluss J, Freilinger M, Gana S, Ishak GE, Leuzzi V, Loucks H, Manti F, Mendelsohn N, Merlini L, Miller CV, Muhammad A, Nuovo S, Romaniello R, Schmidt W, Signorini S, Siliquini S, Szczałuba K, Vasco G, Wilson M, Zanni G, Boltshauser E, Doherty D, Valente EM; University of Washington Center for Mendelian Genomics (UW-CMG) group. Serpieri V, et al. J Med Genet. 2022 Sep;59(9):888-894. doi: 10.1136/jmedgenet-2021-108114. Epub 2021 Oct 21. J Med Genet. 2022. PMID: 34675124 Free PMC article.
55 results