Suresh Somarathi
Birmingham Women's Hospital(GB)Birmingham Women’s and Children’s NHS Foundation Trust(GB)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Cancer Genomics and Diagnostics, Genomics and Rare Diseases, Cardiac Valve Diseases and Treatments, Aortic Disease and Treatment Approaches
Most-Cited Works
- → Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases(2017)49 cited
- → The clinical presentation caused by truncating CHD8 variants(2019)47 cited
- → Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders(2021)44 cited
- → BrainStem Encephalitis Associated with Chandipura in Andhra Pradesh Outbreak(2007)16 cited
- → “I’m quite proud of how we’ve handled it”: health professionals’ experiences of returning additional findings from the 100,000 genomes project(2024)6 cited
- → Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome(2025)3 cited
- → Evaluating the return of additional findings from the 100,000 Genomes Project: A mixed-methods study exploring participant experiences of receiving secondary findings from genomic sequencing(2025)1 cited
- → Author response for "The clinical presentation caused by truncating <i>CHD8</i> variants"(2019)