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De novo variants in DENND5B cause a neurodevelopmental disorder.
Scala M, Tomati V, Ferla M, Lena M, Cohen JS, Fatemi A, Brokamp E, Bican A, Phillips JA 3rd, Koziura ME, Nicouleau M, Rio M, Siquier K, Boddaert N, Musante I, Tamburro S, Baldassari S, Iacomino M, Scudieri P; Undiagnosed Diseases Network; Rosenfeld JA, Bellus G, Reed S, Al Saif H, Russo RS, Walsh MB, Cantagrel V, Crunk A, Gustincich S, Ruggiero SM, Fitzgerald MP, Helbig I, Striano P, Severino M, Salpietro V, Pedemonte N, Zara F. Scala M, et al. Among authors: walsh mb. Am J Hum Genet. 2024 Mar 7;111(3):529-543. doi: 10.1016/j.ajhg.2024.02.001. Epub 2024 Feb 21. Am J Hum Genet. 2024. PMID: 38387458 Free PMC article.
Men with an FMR1 premutation and their health education needs.
Walsh MB, Charen K, Shubeck L, McConkie-Rosell A, Ali N, Bellcross C, Sherman SL. Walsh MB, et al. J Genet Couns. 2021 Aug;30(4):1156-1167. doi: 10.1002/jgc4.1399. Epub 2021 Mar 31. J Genet Couns. 2021. PMID: 33788978 Free PMC article.
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.
Ha T, Morgan A, Bartos MN, Beatty K, Cogné B, Braun D, Gerber CB, Gaspar H, Kopps AM, Rieubland C, Hurst ACE, Amor DJ, Nizon M, Pasquier L, Pfundt R, Reis A, Siu VM, Tessarech M, Thompson ML, Vincent M, de Vries BBA, Walsh MB, Wechsler SB, Zweier C, Schnur RE, Guillen Sacoto MJ, Margot H, Masotto B, Palafoll MIV, Nawaz U, Voineagu I, Slavotinek A. Ha T, et al. Among authors: walsh mb. Am J Med Genet A. 2024 Feb 29:e63559. doi: 10.1002/ajmg.a.63559. Online ahead of print. Am J Med Genet A. 2024. PMID: 38421105 Free article.
Racial Differences in Satisfaction with VA Health Care: A Mixed Methods Pilot Study.
Zickmund SL, Burkitt KH, Gao S, Stone RA, Rodriguez KL, Switzer GE, Shea JA, Bayliss NK, Meiksin R, Walsh MB, Fine MJ. Zickmund SL, et al. Among authors: walsh mb. J Racial Ethn Health Disparities. 2015 Sep;2(3):317-29. doi: 10.1007/s40615-014-0075-6. Epub 2015 Jan 21. J Racial Ethn Health Disparities. 2015. PMID: 26863462
39 results