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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
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.
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.
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.
56 results