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Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.
Holtz AM, VanCoillie R, Vansickle EA, Carere DA, Withrow K, Torti E, Juusola J, Millan F, Person R, Guillen Sacoto MJ, Si Y, Wentzensen IM, Pugh J, Vasileiou G, Rieger M, Reis A, Argilli E, Sherr EH, Aldinger KA, Dobyns WB, Brunet T, Hoefele J, Wagner M, Haber B, Kotzaeridou U, Keren B, Heron D, Mignot C, Heide S, Courtin T, Buratti J, Murugasen S, Donald KA, O'Heir E, Moody S, Kim KH, Burton BK, Yoon G, Campo MD, Masser-Frye D, Kozenko M, Parkinson C, Sell SL, Gordon PL, Prokop JW, Karaa A, Bupp C, Raby BA. Holtz AM, et al. Among authors: withrow k. Genet Med. 2022 Oct;24(10):2065-2078. doi: 10.1016/j.gim.2022.07.005. Epub 2022 Aug 18. Genet Med. 2022. PMID: 35980381 Free PMC article.
Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders.
Acharya A, Kavus H, Dunn P, Nasir A, Folk L, Withrow K, Wentzensen IM, Ruzhnikov MRZ, Fallot C, Smol T, Rama M, Brown K, Whalen S, Ziegler A, Barth M, Chassevent A, Smith-Hicks C, Afenjar A, Courtin T, Heide S, Font-Montgomery E, Heid C, Hamm JA, Love DR, Thabet F, Misra VK, Cunningham M, Leal SM, Jarvela I, Normand EA, Zou F, Helal M, Keren B, Torti E, Chung WK, Schrauwen I. Acharya A, et al. Among authors: withrow k. J Med Genet. 2022 Jul;59(7):669-677. doi: 10.1136/jmedgenet-2021-107871. Epub 2021 Jul 28. J Med Genet. 2022. PMID: 34321324 Review.
Cobblestone Malformation in LAMA2 Congenital Muscular Dystrophy (MDC1A).
Jayakody H, Zarei S, Nguyen H, Dalton J, Chen K, Hudgins L, Day J, Withrow K, Pandya A, Teasley J, Dobyns WB, Mathews KD, Moore SA. Jayakody H, et al. Among authors: withrow k. J Neuropathol Exp Neurol. 2020 Sep 1;79(9):998-1010. doi: 10.1093/jnen/nlaa062. J Neuropathol Exp Neurol. 2020. PMID: 32827036 Free PMC article.
Early Voice and Swallowing Disturbance Incidence and Risk Factors After Revision Anterior Cervical Discectomy and Fusion Using a Multidisciplinary Surgical Approach: A Retrospective Cohort Evaluation of a Prospective Database.
Laskay NMB, Yang LC, Estevez-Ordonez D, Warner JD, Trahan D, Stone C, Grayson JW, Withrow K, Hadley MN. Laskay NMB, et al. Among authors: withrow k. Neurosurgery. 2024 Mar 1;94(3):444-453. doi: 10.1227/neu.0000000000002704. Epub 2023 Oct 13. Neurosurgery. 2024. PMID: 37830799
30 results