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Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.
Gilbert MA, Bauer RC, Rajagopalan R, Grochowski CM, Chao G, McEldrew D, Nassur JA, Rand EB, Krock BL, Kamath BM, Krantz ID, Piccoli DA, Loomes KM, Spinner NB. Gilbert MA, et al. Among authors: grochowski cm. Hum Mutat. 2019 Dec;40(12):2197-2220. doi: 10.1002/humu.23879. Epub 2019 Aug 26. Hum Mutat. 2019. PMID: 31343788 Free PMC article.
Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structures.
Grochowski CM, Bengtsson JD, Du H, Gandhi M, Lun MY, Mehaffey MG, Park K, Höps W, Benito-Garagorri E, Hasenfeld P, Korbel JO, Mahmoud M, Paulin LF, Jhangiani SN, Muzny DM, Fatih JM, Gibbs RA, Pendleton M, Harrington E, Juul S, Lindstrand A, Sedlazeck FJ, Pehlivan D, Lupski JR, Carvalho CMB. Grochowski CM, et al. bioRxiv [Preprint]. 2023 Oct 3:2023.10.02.560172. doi: 10.1101/2023.10.02.560172. bioRxiv. 2023. PMID: 37873367 Free PMC article. Preprint.
Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis.
Boschann F, Cogulu O, Pehlivan D, Balachandran S, Vallecillo-Garcia P, Grochowski CM, Hansmeier NR, Coban Akdemir ZH, Prada-Medina CA, Aykut A, Fischer-Zirnsak B, Badura S, Durmaz B, Ozkinay F, Hägerling R, Posey JE, Stricker S, Gillessen-Kaesbach G, Spielmann M, Horn D, Brockmann K, Lupski JR, Kornak U, Schmidt J. Boschann F, et al. Among authors: grochowski cm. Genet Med. 2023 May;25(5):100799. doi: 10.1016/j.gim.2023.100799. Epub 2023 Feb 28. Genet Med. 2023. PMID: 36853234 Free article. No abstract available.
Detection of mosaic and population-level structural variants with Sniffles2.
Smolka M, Paulin LF, Grochowski CM, Horner DW, Mahmoud M, Behera S, Kalef-Ezra E, Gandhi M, Hong K, Pehlivan D, Scholz SW, Carvalho CMB, Proukakis C, Sedlazeck FJ. Smolka M, et al. Among authors: grochowski cm. Nat Biotechnol. 2024 Jan 2. doi: 10.1038/s41587-023-02024-y. Online ahead of print. Nat Biotechnol. 2024. PMID: 38168980
54 results