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Protein-elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease.
Gilbert MA, Schultz-Rogers L, Rajagopalan R, Grochowski CM, Wilkins BJ, Biswas S, Conlin LK, Fiorino KN, Dhamija R, Pack MA, Klee EW, Piccoli DA, Spinner NB. Gilbert MA, et al. Among authors: grochowski cm. Hum Mutat. 2020 May;41(5):973-982. doi: 10.1002/humu.23986. Epub 2020 Feb 6. Hum Mutat. 2020. PMID: 31944481
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.
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.
Erratum to: A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case report.
Kelsen JR, Dawany N, Martinez A, Grochowski CM, Maurer K, Rappaport E, Piccoli DA, Baldassano RN, Mamula P, Sullivan KE, Devoto M. Kelsen JR, et al. Among authors: grochowski cm. BMC Gastroenterol. 2015 Dec 18;15:179. doi: 10.1186/s12876-015-0412-1. BMC Gastroenterol. 2015. PMID: 26683620 Free PMC article. No abstract available.
55 results