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Human Mutation|January 17, 2020
Protein-elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal diseaseMelissa A Gilbert, Laura Schultz-Rogers, Ramakrishnan Rajagopalan, et al.
American Journal of Human Genetics|July 23, 2024
Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretationMelissa A Gilbert, Ernest Keefer-Jacques, Tanaya Jadhav, et al.
Plos One|October 11, 2012
Results of genome-wide analyses on neurodevelopmental phenotypes at four-year follow-up following cardiac surgery in infancyDaniel S Kim, Ian B Stanaway, Ramakrishnan Rajagopalan, et al.
Human Mutation|July 26, 2019
Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classificationMelissa A Gilbert, Robert C Bauer, Ramakrishnan Rajagopalan, et al.
Nature Genetics|March 3, 2015
Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesinKosuke Izumi, Ryuichiro Nakato, Zhe Zhang, et al.
Human Genomics|July 19, 2015
Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac deathMindy H Li, Jenica L Abrudan, Matthew C Dulik, et al.
The Journal of Pediatrics|July 20, 2023
Comprehensive Gene Panel Testing for Hearing Loss in Children: Understanding Factors Influencing Diagnostic YieldNobuko Yamamoto, Jorune Balciuniene, Tiffiney Hartman, et al.
Genetics in Medicine Open|January 26, 2026
Rapid targeted analysis of the genome: Rapid genomic sequencing in critically ill infantsK Taylor Wild, Sara L Reichert, Matthew C Dulik, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 17, 2018
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing lossSarah Sheppard, Sawona Biswas, Mindy H Li, et al.
Journal of Lipid Research|January 7, 2009
Genome-wide association study of plasma lipoprotein(a) levels identifies multiple genes on chromosome 6qCarole Ober, Alex S Nord, Emma E Thompson, et al.
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