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2020 1
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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: vansickle ea. 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.
Bachmann-Bupp syndrome and treatment.
Bachmann AS, VanSickle EA, Michael J, Vipond M, Bupp CP. Bachmann AS, et al. Among authors: vansickle ea. Dev Med Child Neurol. 2024 Apr;66(4):445-455. doi: 10.1111/dmcn.15687. Epub 2023 Jul 19. Dev Med Child Neurol. 2024. PMID: 37469105 Free PMC article. Review.
Autosomal recessive LRP1-related syndrome featuring cardiopulmonary dysfunction, bone dysmorphology, and corneal clouding.
Mark PR, Murray SA, Yang T, Eby A, Lai A, Lu D, Zieba J, Rajasekaran S, VanSickle EA, Rossetti LZ, Guidugli L, Watkins K, Wright MS, Bupp CP, Prokop JW. Mark PR, et al. Among authors: vansickle ea. Cold Spring Harb Mol Case Stud. 2022 Oct 28;8(6):a006169. doi: 10.1101/mcs.a006169. Print 2022 Oct. Cold Spring Harb Mol Case Stud. 2022. PMID: 36307211 Free PMC article.
NAA10 variant in 38-week-gestation male patient: a case study.
Afrin A, Prokop JW, Underwood A, Uhl KL, VanSickle EA, Baruwal R, Wajda M, Rajasekaran S, Bupp C. Afrin A, et al. Among authors: vansickle ea. Cold Spring Harb Mol Case Stud. 2020 Dec 17;6(6):a005868. doi: 10.1101/mcs.a005868. Print 2020 Dec. Cold Spring Harb Mol Case Stud. 2020. PMID: 33335012 Free PMC article.
11 results