Associated Papers
Exclusion-based exome sequencing in critically ill adults 18-40 years old has a 24% diagnostic rate and finds racial disparities in access to genetic testing.
Gold JI et al.
American Journal of Human Genetics, 2025
40628270 (PubMed )
Supplement: mmc2.xlsx › Table_S1
Late Diagnosis of Congenital Chloride Diarrhea Mimicking Hirschsprung's Disease.
Çelik AT et al.
Clinical Pediatrics, 2024
Universal Exome Sequencing in Critically Ill Adults: A Diagnostic Yield of 25% and Race-Based Disparities in Access to Genetic Testing.
Gold J et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
38559092 (PubMed )
Supplement: media-1.xlsx › MICUSeq.Data.Filtered.Clean_Spl
Twelve Novel Mutations in the SLC26A3 Gene in 17 Sporadic Cases of Congenital Chloride Diarrhea.
Amato F et al.
Journal of Pediatric Gastroenterology and Nutrition, 2017
Exome Sequencing and Gene Prioritization Correct Misdiagnosis in a Chinese Kindred with Familial Amyloid Polyneuropathy.
Chen H et al.
Scientific Reports, 2016
27212199 (PubMed )
Supplement: srep26362-s1.doc
Effect of SLC26 anion transporter disease-causing mutations on the stability of the homologous STAS domain of E. coli DauA (YchM).
Bai X et al.
The Biochemical Journal, 2016
Follow-up of a child with congenital chloride diarrhoea caused by a novel mutation.
Dechant MJ et al.
Acta Paediatrica (oslo, Norway : 1992), 2012
Exome sequencing: dual role as a discovery and diagnostic tool.
Ku CS et al.
Annals of Neurology, 2012
Rare variants in complex traits: novel identification strategies and the role of de novo mutations.
Jouan L et al.
Human Heredity, 2012
Exome sequencing as a tool for Mendelian disease gene discovery.
Bamshad MJ et al.
Nature Reviews. Genetics, 2011
A probabilistic disease-gene finder for personal genomes.
Yandell M et al.
Genome Research, 2011
Update on SLC26A3 mutations in congenital chloride diarrhea.
Wedenoja S et al.
Human Mutation, 2011
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing.
Choi M et al.
Proceedings of the National Academy of Sciences of the United States of America, 2009
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