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De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment.
Dutta D, Briere LC, Kanca O, Marcogliese PC, Walker MA, High FA, Vanderver A, Krier J, Carmichael N, Callahan C, Taft RJ, Simons C, Helman G, Network UD, Wangler MF, Yamamoto S, Sweetser DA, Bellen HJ. Dutta D, et al. Among authors: walker ma. Hum Mol Genet. 2020 Jun 3;29(9):1568-1579. doi: 10.1093/hmg/ddaa081. Hum Mol Genet. 2020. PMID: 32356556 Free PMC article.
Missense variants in CTNNB1 can be associated with vitreoretinopathy-Seven new cases of CTNNB1-associated neurodevelopmental disorder including a previously unreported retinal phenotype.
Rossetti LZ, Bekheirnia MR, Lewis AM, Mefford HC, Golden-Grant K, Tarczy-Hornoch K, Briere LC, Sweetser DA, Walker MA, Kravets E, Stevenson DA, Bruenner G, Sebastian J, Knapo J, Rosenfeld JA, Marcogliese PC; Undiagnosed Diseases Network; Wangler MF. Rossetti LZ, et al. Among authors: walker ma. Mol Genet Genomic Med. 2021 Jan;9(1):e1542. doi: 10.1002/mgg3.1542. Epub 2020 Dec 22. Mol Genet Genomic Med. 2021. PMID: 33350591 Free PMC article.
A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy.
Briere LC, Walker MA, High FA, Cooper C, Rogers CA, Callahan CJ, Ishimura R, Ichimura Y, Caruso PA, Sharma N, Brokamp E, Koziura ME, Mohammad SS, Dale RC, Riley LG; Undiagnosed Diseases Network; Phillips JA, Komatsu M, Sweetser DA. Briere LC, et al. Among authors: walker ma. Cold Spring Harb Mol Case Stud. 2021 Jun 11;7(3):a005827. doi: 10.1101/mcs.a005827. Print 2021 Jun. Cold Spring Harb Mol Case Stud. 2021. PMID: 33811063 Free PMC article.
The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability.
Huang Y, Lemire G, Briere LC, Liu F, Wessels MW, Wang X, Osmond M, Kanca O, Lu S, High FA, Walker MA, Rodan LH; Undiagnosed Diseases Network; Care4Rare Canada Consortium; Kernohan KD, Sweetser DA, Boycott KM, Bellen HJ. Huang Y, et al. Among authors: walker ma. Am J Hum Genet. 2022 Oct 6;109(10):1923-1931. doi: 10.1016/j.ajhg.2022.08.011. Epub 2022 Sep 5. Am J Hum Genet. 2022. PMID: 36067766 Free PMC article.
A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster.
Jangam S, Briere LC, Jay K, Andrews JC, Walker MA, Rodan LH, High FA; Undiagnosed Diseases Network; Yamamoto S, Sweetser DA, Wangler M. Jangam S, et al. Among authors: walker ma. medRxiv [Preprint]. 2023 Feb 3:2023.01.31.23285113. doi: 10.1101/2023.01.31.23285113. medRxiv. 2023. Update in: Genetics. 2023 Aug 9;224(4):iyad110. doi: 10.1093/genetics/iyad110 PMID: 36778246 Free PMC article. Updated. Preprint.
310 results