Uma Sunderam
Tata Consultancy Services (India)(IN)
Publications by Year
Research Areas
Genomics and Rare Diseases, Immunodeficiency and Autoimmune Disorders, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, RNA modifications and cancer
Most-Cited Works
- → The role of exome sequencing in newborn screening for inborn errors of metabolism(2020)244 cited
- → A novel human autoimmune syndrome caused by combined hypomorphic and activating mutations in ZAP-70(2016)98 cited
- → Combined Immunodeficiency Due to MALT1 Mutations, Treated by Hematopoietic Cell Transplantation(2015)97 cited
- → Newborn Screening for SCID Identifies Patients with Ataxia Telangiectasia(2012)94 cited
- → Nijmegen Breakage Syndrome Detected by Newborn Screening for T Cell Receptor Excision Circles (TRECs)(2015)27 cited
- → Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace Future Sequencing(2020)19 cited
- → Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project(2024)16 cited
- → CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases(2019)11 cited