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Admixture mapping implicates 13q33.3 as ancestry-of-origin locus for Alzheimer disease in Hispanic and Latino populations.
Horimoto ARVR, Boyken LA, Blue EE, Grinde KE, Nafikov RA, Sohi HK, Nato AQ Jr, Bis JC, Brusco LI, Morelli L, Ramirez A, Dalmasso MC, Temple S, Satizabal C, Browning SR, Seshadri S, Wijsman EM, Thornton TA. Horimoto ARVR, et al. Among authors: blue ee. HGG Adv. 2023 May 20;4(3):100207. doi: 10.1016/j.xhgg.2023.100207. eCollection 2023 Jul 13. HGG Adv. 2023. PMID: 37333771 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.
Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data.
Jenkins MM, Almli LM, Pangilinan F, Chong JX, Blue EE, Shapira SK, White J, McGoldrick D, Smith JD, Mullikin JC, Bean CJ, Nembhard WN, Lou XY, Shaw GM, Romitti PA, Keppler-Noreuil K, Yazdy MM, Kay DM, Carter TC, Olshan AF, Moore KJ, Nascone-Yoder N, Finnell RH, Lupo PJ, Feldkamp ML; NISC Comparative Sequencing Program; University of Washington Center for Mendelian Genomics; Nickerson DA, Bamshad MJ, Brody LC, Reefhuis J; National Birth Defects Prevention Study. Jenkins MM, et al. Among authors: blue ee. Birth Defects Res. 2019 Dec 1;111(20):1618-1632. doi: 10.1002/bdr2.1554. Epub 2019 Jul 21. Birth Defects Res. 2019. PMID: 31328417 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.
56 results