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Bi-Allelic Pathogenic Variations in MERTK Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa.
Jespersgaard C, Bertelsen M, Arif F, Gellert-Kristensen HG, Fang M, Jensen H, Rosenberg T, Tümer Z, Møller LB, Brøndum-Nielsen K, Grønskov K. Jespersgaard C, et al. Among authors: gellert kristensen hg. Genes (Basel). 2020 Dec 18;11(12):1517. doi: 10.3390/genes11121517. Genes (Basel). 2020. PMID: 33353011 Free PMC article.
Integrative common and rare variant analyses provide insights into the genetic architecture of liver cirrhosis.
Ghouse J, Sveinbjörnsson G, Vujkovic M, Seidelin AS, Gellert-Kristensen H, Ahlberg G, Tragante V, Rand SA, Brancale J, Vilarinho S, Lundegaard PR, Sørensen E, Erikstrup C, Bruun MT, Jensen BA, Brunak S, Banasik K, Ullum H; DBDS Genomic Consortium; Verweij N, Lotta L, Baras A; Regeneron Genetics Center; Mirshahi T, Carey DJ; Geisinger-Regeneron DiscovEHR Collaboration; VA Million Veteran Program; Kaplan DE, Lynch J, Morgan T, Schwantes-An TH, Dochtermann DR, Pyarajan S, Tsao PS; Estonian Biobank Research Team; Laisk T, Mägi R, Kozlitina J, Tybjærg-Hansen A, Jones D, Knowlton KU, Nadauld L, Ferkingstad E, Björnsson ES, Ulfarsson MO, Sturluson Á, Sulem P, Pedersen OB, Ostrowski SR, Gudbjartsson DF, Stefansson K, Olesen MS, Chang KM, Holm H, Bundgaard H, Stender S. Ghouse J, et al. Among authors: gellert kristensen h. Nat Genet. 2024 Apr 17. doi: 10.1038/s41588-024-01720-y. Online ahead of print. Nat Genet. 2024. PMID: 38632349