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Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome.
Breuss MW, Nguyen A, Song Q, Nguyen T, Stanley V, James KN, Musaev D, Chai G, Wirth SA, Anzenberg P, George RD, Johansen A, Ali S, Zia-Ur-Rehman M, Sultan T, Zaki MS, Gleeson JG. Breuss MW, et al. Among authors: wirth sa. Am J Hum Genet. 2018 Aug 2;103(2):296-304. doi: 10.1016/j.ajhg.2018.06.011. Epub 2018 Jul 19. Am J Hum Genet. 2018. PMID: 30032983 Free PMC article.
Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia.
Marin-Valencia I, Gerondopoulos A, Zaki MS, Ben-Omran T, Almureikhi M, Demir E, Guemez-Gamboa A, Gregor A, Issa MY, Appelhof B, Roosing S, Musaev D, Rosti B, Wirth S, Stanley V, Baas F, Barr FA, Gleeson JG. Marin-Valencia I, et al. Am J Hum Genet. 2017 Sep 7;101(3):441-450. doi: 10.1016/j.ajhg.2017.07.015. Epub 2017 Aug 17. Am J Hum Genet. 2017. PMID: 28823706 Free PMC article.
Autism risk in offspring can be assessed through quantification of male sperm mosaicism.
Breuss MW, Antaki D, George RD, Kleiber M, James KN, Ball LL, Hong O, Mitra I, Yang X, Wirth SA, Gu J, Garcia CAB, Gujral M, Brandler WM, Musaev D, Nguyen A, McEvoy-Venneri J, Knox R, Sticca E, Botello MCC, Uribe Fenner J, Pérez MC, Arranz M, Moffitt AB, Wang Z, Hervás A, Devinsky O, Gymrek M, Sebat J, Gleeson JG. Breuss MW, et al. Among authors: wirth sa. Nat Med. 2020 Jan;26(1):143-150. doi: 10.1038/s41591-019-0711-0. Epub 2019 Dec 23. Nat Med. 2020. PMID: 31873310 Free PMC article.
Developmental and temporal characteristics of clonal sperm mosaicism.
Yang X, Breuss MW, Xu X, Antaki D, James KN, Stanley V, Ball LL, George RD, Wirth SA, Cao B, Nguyen A, McEvoy-Venneri J, Chai G, Nahas S, Van Der Kraan L, Ding Y, Sebat J, Gleeson JG. Yang X, et al. Among authors: wirth sa. Cell. 2021 Sep 2;184(18):4772-4783.e15. doi: 10.1016/j.cell.2021.07.024. Epub 2021 Aug 12. Cell. 2021. PMID: 34388390 Free PMC article.
Clonal hematopoiesis is associated with protection from Alzheimer's disease.
Bouzid H, Belk JA, Jan M, Qi Y, Sarnowski C, Wirth S, Ma L, Chrostek MR, Ahmad H, Nachun D, Yao W; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Beiser A, Bick AG, Bis JC, Fornage M, Longstreth WT Jr, Lopez OL, Natarajan P, Psaty BM, Satizabal CL, Weinstock J, Larson EB, Crane PK, Keene CD, Seshadri S, Satpathy AT, Montine TJ, Jaiswal S. Bouzid H, et al. Nat Med. 2023 Jul;29(7):1662-1670. doi: 10.1038/s41591-023-02397-2. Epub 2023 Jun 15. Nat Med. 2023. PMID: 37322115 Free PMC article.
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