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A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1.
Chen Y, Gilbert MA, Grochowski CM, McEldrew D, Llewellyn J, Waisbourd-Zinman O, Hakonarson H, Bailey-Wilson JE, Russo P, Wells RG, Loomes KM, Spinner NB, Devoto M. Chen Y, et al. Among authors: grochowski cm. PLoS Genet. 2018 Aug 13;14(8):e1007532. doi: 10.1371/journal.pgen.1007532. eCollection 2018 Aug. PLoS Genet. 2018. PMID: 30102696 Free PMC article.
Exome Sequencing in Individuals with Isolated Biliary Atresia.
Rajagopalan R, Tsai EA, Grochowski CM, Kelly SM, Loomes KM, Spinner NB, Devoto M. Rajagopalan R, et al. Among authors: grochowski cm. Sci Rep. 2020 Feb 17;10(1):2709. doi: 10.1038/s41598-020-59379-4. Sci Rep. 2020. PMID: 32066793 Free PMC article.
THBS2 Is a Candidate Modifier of Liver Disease Severity in Alagille Syndrome.
Tsai EA, Gilbert MA, Grochowski CM, Underkoffler LA, Meng H, Zhang X, Wang MM, Shitaye H, Hankenson KD, Piccoli D, Lin H, Kamath BM, Devoto M, Spinner NB, Loomes KM. Tsai EA, et al. Among authors: grochowski cm. Cell Mol Gastroenterol Hepatol. 2016 May 26;2(5):663-675.e2. doi: 10.1016/j.jcmgh.2016.05.013. eCollection 2016 Sep. Cell Mol Gastroenterol Hepatol. 2016. PMID: 28090565 Free PMC article.
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
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.
60 results