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Page 1
Early-onset Wilson disease caused by ATP7B exon skipping associated with intronic variant.
Koboldt DC, Hickey SE, Chaudhari BP, Mihalic Mosher T, Bedrosian T, Crist E, Kaler SG, McBride K, White P, Wilson RK. Koboldt DC, et al. Among authors: mihalic mosher t. Cold Spring Harb Mol Case Stud. 2020 Jun 12;6(3):a005306. doi: 10.1101/mcs.a005306. Print 2020 Jun. Cold Spring Harb Mol Case Stud. 2020. PMID: 32532881 Free PMC article.
A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndrome.
Koboldt DC, Mihalic Mosher T, Kelly BJ, Sites E, Bartholomew D, Hickey SE, McBride K, Wilson RK, White P. Koboldt DC, et al. Among authors: mihalic mosher t. Cold Spring Harb Mol Case Stud. 2018 Jun 1;4(3):a002410. doi: 10.1101/mcs.a002410. Print 2018 Jun. Cold Spring Harb Mol Case Stud. 2018. PMID: 29305346 Free PMC article.
Hypomorphic alleles pose challenges in rare disease genomic variant interpretation.
Nolan DK, Chaudhari B, Franklin SJ, Wijeratne S, Pfau R, Mihalic Mosher T, Crist E, McBride KL, White P, Wilson RK, Hickey SE, Koboldt DC. Nolan DK, et al. Among authors: mihalic mosher t. Clin Genet. 2021 Dec;100(6):775-776. doi: 10.1111/cge.14052. Epub 2021 Sep 3. Clin Genet. 2021. PMID: 34476810
Maternal mosaicism for a missense variant in the SMS gene that causes Snyder-Robinson syndrome.
Marhabaie M, Hickey SE, Miller K, Grischow O, Schieffer KM, Franklin SJ, Gordon DM, Choi S, Mihalic Mosher T, White P, Koboldt DC, Wilson RK. Marhabaie M, et al. Among authors: mihalic mosher t. Cold Spring Harb Mol Case Stud. 2021 Dec 9;7(6):a006122. doi: 10.1101/mcs.a006122. Print 2021 Dec. Cold Spring Harb Mol Case Stud. 2021. PMID: 34667072 Free PMC article.
Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss.
Morgan A, Koboldt DC, Barrie ES, Crist ER, García García G, Mezzavilla M, Faletra F, Mihalic Mosher T, Wilson RK, Blanchet C, Manickam K, Roux AF, Gasparini P, Dell'Orco D, Girotto G. Morgan A, et al. Among authors: mihalic mosher t. Hum Mutat. 2019 Dec;40(12):2286-2295. doi: 10.1002/humu.23891. Epub 2019 Oct 1. Hum Mutat. 2019. PMID: 31397523
Case report and review of the literature: immune dysregulation in a large familial cohort due to a novel pathogenic RELA variant.
Lecerf K, Koboldt DC, Kuehn HS, Jayaraman V, Lee K, Mihalic Mosher T, Yonkof JR, Mori M, Hickey SE, Franklin S, Drew J, Akoghlanian S, Sivaraman V, Rosenzweig SD, Wilson RK, Abraham RS. Lecerf K, et al. Among authors: mihalic mosher t. Rheumatology (Oxford). 2022 Dec 23;62(1):347-359. doi: 10.1093/rheumatology/keac227. Rheumatology (Oxford). 2022. PMID: 35412596 Free PMC article.
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder.
Frints SGM, Ozanturk A, Rodríguez Criado G, Grasshoff U, de Hoon B, Field M, Manouvrier-Hanu S, E Hickey S, Kammoun M, Gripp KW, Bauer C, Schroeder C, Toutain A, Mihalic Mosher T, Kelly BJ, White P, Dufke A, Rentmeester E, Moon S, Koboldt DC, van Roozendaal KEP, Hu H, Haas SA, Ropers HH, Murray L, Haan E, Shaw M, Carroll R, Friend K, Liebelt J, Hobson L, De Rademaeker M, Geraedts J, Fryns JP, Vermeesch J, Raynaud M, Riess O, Gribnau J, Katsanis N, Devriendt K, Bauer P, Gecz J, Golzio C, Gontan C, Kalscheuer VM. Frints SGM, et al. Among authors: mihalic mosher t. Mol Psychiatry. 2019 Nov;24(11):1748-1768. doi: 10.1038/s41380-018-0065-x. Epub 2018 May 4. Mol Psychiatry. 2019. PMID: 29728705 Free article.
Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery.
Kumar R, Gardner A, Homan CC, Douglas E, Mefford H, Wieczorek D, Lüdecke HJ, Stark Z, Sadedin S; Broad CMG; Nowak CB, Douglas J, Parsons G, Mark P, Loidi L, Herman GE, Mihalic Mosher T, Gillespie MK, Brady L, Tarnopolsky M, Madrigal I, Eiris J, Domènech Salgado L, Rabionet R, Strom TM, Ishihara N, Inagaki H, Kurahashi H, Dudding-Byth T, Palmer EE, Field M, Gecz J. Kumar R, et al. Among authors: mihalic mosher t. Hum Mutat. 2018 Aug;39(8):1126-1138. doi: 10.1002/humu.23557. Epub 2018 Jun 14. Hum Mutat. 2018. PMID: 29851191 Free PMC article.