| Jagged1 (JAG1): Structure, expression, and disease associations CM Grochowski, KM Loomes, NB Spinner Gene 576 (1), 381-384, 2016 | 154 | 2016 |
| Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification MA Gilbert, RC Bauer, R Rajagopalan, CM Grochowski, G Chao, ... Human mutation 40 (12), 2197-2220, 2019 | 140 | 2019 |
| Detection of mosaic and population-level structural variants with Sniffles2 M Smolka, LF Paulin, CM Grochowski, DW Horner, M Mahmoud, ... Nature biotechnology 42 (10), 1571-1580, 2024 | 134 | 2024 |
| The genomics of arthrogryposis, a complex trait: candidate genes and further evidence for oligogenic inheritance D Pehlivan, Y Bayram, N Gunes, ZC Akdemir, A Shukla, T Bierhals, ... The American Journal of Human Genetics 105 (1), 132-150, 2019 | 95 | 2019 |
| Comprehensive structural variant detection: from mosaic to population-level M Smolka, LF Paulin, CM Grochowski, DW Horner, M Mahmoud, ... BioRxiv, 2022.04. 04.487055, 2022 | 94 | 2022 |
| Paralog studies augment gene discovery: DDX and DHX genes I Paine, JE Posey, CM Grochowski, SN Jhangiani, S Rosenheck, ... The American Journal of Human Genetics 105 (2), 302-316, 2019 | 86 | 2019 |
| Replication of a GWAS signal in a Caucasian population implicates ADD3 in susceptibility to biliary atresia EA Tsai, CM Grochowski, KM Loomes, K Bessho, H Hakonarson, ... Human genetics 133, 235-243, 2014 | 78 | 2014 |
| Beyond the exome: what’s next in diagnostic testing for Mendelian conditions MH Wojcik, CM Reuter, S Marwaha, M Mahmoud, MH Duyzend, ... The American Journal of Human Genetics 110 (8), 1229-1248, 2023 | 67 | 2023 |
| A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16. 1 within the gene EFEMP1 Y Chen, MA Gilbert, CM Grochowski, D McEldrew, J Llewellyn, ... PLoS genetics 14 (8), e1007532, 2018 | 67 | 2018 |
| High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population T Mitani, S Isikay, A Gezdirici, EY Gulec, J Punetha, JM Fatih, I Herman, ... The American Journal of Human Genetics 108 (10), 1981-2005, 2021 | 63 | 2021 |
| Centers for Mendelian Genomics: A decade of facilitating gene discovery SM Baxter, JE Posey, NJ Lake, N Sobreira, JX Chong, S Buyske, EE Blue, ... Genetics in Medicine 24 (4), 784-797, 2022 | 60 | 2022 |
| Heterozygous Deletion of FOXA2 Segregates with Disease in a Family with Heterotaxy, Panhypopituitarism, and Biliary Atresia EA Tsai, CM Grochowski, AM Falsey, R Rajagopalan, D Wendel, ... Human mutation 36 (6), 631-637, 2015 | 57 | 2015 |
| A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case report JR Kelsen, N Dawany, A Martinez, CM Grochowski, K Maurer, ... BMC gastroenterology 15, 1-5, 2015 | 52 | 2015 |
| Recurrent de novo NAHR reciprocal duplications in the ATAD3 gene cluster cause a neurogenetic trait with perturbed cholesterol and mitochondrial metabolism AC Gunning, K Strucinska, MM Oreja, A Parrish, R Caswell, KL Stals, ... The American Journal of Human Genetics 106 (2), 272-279, 2020 | 49 | 2020 |
| Complex genomic rearrangements: an underestimated cause of rare diseases J Schuy, CM Grochowski, CMB Carvalho, A Lindstrand Trends in Genetics 38 (11), 1134-1146, 2022 | 47 | 2022 |
| THBS2 is a candidate modifier of liver disease severity in Alagille syndrome EA Tsai, MA Gilbert, CM Grochowski, LA Underkoffler, H Meng, X Zhang, ... Cellular and molecular gastroenterology and hepatology 2 (5), 663-675. e2, 2016 | 46 | 2016 |
| Targeted treatment of individuals with psychosis carrying a copy number variant containing a genomic triplication of the glycine decarboxylase gene JA Bodkin, MJ Coleman, LJ Godfrey, CMB Carvalho, CJ Morgan, ... Biological psychiatry 86 (7), 523-535, 2019 | 40 | 2019 |
| Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions T Gambin, Q Liu, JA Karolak, CM Grochowski, NG Xie, LR Wu, YH Yan, ... Genetics in Medicine 22 (11), 1768-1776, 2020 | 39 | 2020 |
| Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants V Bahrambeigi, X Song, K Sperle, CR Beck, H Hijazi, CM Grochowski, ... Genome Medicine 11, 1-17, 2019 | 37 | 2019 |
| Wolff–Parkinson–White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation ZH Coban‐Akdemir, WL Charng, M Azamian, IS Paine, J Punetha, ... American Journal of Medical Genetics Part A 182 (6), 1387-1399, 2020 | 35 | 2020 |
James LupskiBaylor College of Medicineยืนยันอีเมลแล้วที่ bcm.edu