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Page 1
Conserved genes act as modifiers of invertebrate SMN loss of function defects.
Dimitriadi M, Sleigh JN, Walker A, Chang HC, Sen A, Kalloo G, Harris J, Barsby T, Walsh MB, Satterlee JS, Li C, Van Vactor D, Artavanis-Tsakonas S, Hart AC. Dimitriadi M, et al. Among authors: walsh mb. PLoS Genet. 2010 Oct 28;6(10):e1001172. doi: 10.1371/journal.pgen.1001172. PLoS Genet. 2010. PMID: 21124729 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 Jul;194(7):e63559. doi: 10.1002/ajmg.a.63559. Epub 2024 Feb 29. Am J Med Genet A. 2024. PMID: 38421105 Free article.
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.
A Randomized Controlled Trial of a Patient-Centered Approach to Improve Screening for the Metabolic Side Effects of Antipsychotic Medications.
Kreyenbuhl J, Dixon LB, Brown CH, Medoff DR, Klingaman EA, Fang LJ, Tapscott S, Walsh MB. Kreyenbuhl J, et al. Among authors: walsh mb. Community Ment Health J. 2017 Feb;53(2):163-175. doi: 10.1007/s10597-016-0007-5. Epub 2016 Apr 9. Community Ment Health J. 2017. PMID: 27061185 Free PMC article. Clinical Trial.
38 results