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HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.
Niggl E, Bouman A, Briere LC, Hoogenboezem RM, Wallaard I, Park J, Admard J, Wilke M, Harris-Mostert EDRO, Elgersma M, Bain J, Balasubramanian M, Banka S, Benke PJ, Bertrand M, Blesson AE, Clayton-Smith J, Ellingford JM, Gillentine MA, Goodloe DH, Haack TB, Jain M, Krantz I, Luu SM, McPheron M, Muss CL, Raible SE, Robin NH, Spiller M, Starling S, Sweetser DA, Thiffault I, Vetrini F, Witt D, Woods E, Zhou D; Genomics England Research Consortium; Undiagnosed Diseases Network; Elgersma Y, van Esbroeck ACM. Niggl E, et al. Among authors: park j. Am J Hum Genet. 2023 Aug 3;110(8):1414-1435. doi: 10.1016/j.ajhg.2023.07.005. Am J Hum Genet. 2023. PMID: 37541189 Free PMC article.
Novel HIVEP2 Variants in Patients with Intellectual Disability.
Park J, Colombo R, Schäferhoff K, Janiri L, Grimmel M, Sturm M, Grasshoff U, Dufke A, Haack TB, Kehrer M. Park J, et al. Mol Syndromol. 2019 Jul;10(4):195-201. doi: 10.1159/000499060. Epub 2019 Apr 3. Mol Syndromol. 2019. PMID: 31602191 Free PMC article.
Correspondence on "Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment" by Roux et al.
Park J, Deininger N, Rautenberg M, Saft C, Harmuth F, Sturm M, Riess O, Schöls L, Synofzik M, Haack TB. Park J, et al. Genet Med. 2021 Jun;23(6):1171-1172. doi: 10.1038/s41436-021-01104-1. Epub 2021 Feb 9. Genet Med. 2021. PMID: 33564152 Free PMC article. No abstract available.
Clinical and molecular delineation of PUS3-associated neurodevelopmental disorders.
Nøstvik M, Kateta SM, Schönewolf-Greulich B, Afenjar A, Barth M, Boschann F, Doummar D, Haack TB, Keren B, Livshits LA, Mei D, Park J, Pisano T, Prouteau C, Umair M, Waqas A, Ziegler A, Guerrini R, Møller RS, Tümer Z. Nøstvik M, et al. Among authors: park j. Clin Genet. 2021 Nov;100(5):628-633. doi: 10.1111/cge.14051. Epub 2021 Aug 31. Clin Genet. 2021. PMID: 34415064
Transcript-Specific Loss-of-Function Variants in VPS16 Are Enriched in Patients With Dystonia.
Park J, Reilaender A, Petry-Schmelzer JN, Stöbe P, Cordts I, Harmuth F, Rautenberg M, Woerz SE, Demidov G, Sturm M, Ossowski S, Schwaibold EMC, Wunderlich G, Paus S, Saft C, Haack TB. Park J, et al. Neurol Genet. 2021 Dec 7;8(1):e644. doi: 10.1212/NXG.0000000000000644. eCollection 2022 Feb. Neurol Genet. 2021. PMID: 34901436 Free PMC article.
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