Author

Suresh Somarathi

Observed names: S. Somarathi, Somarathi S

Institutions: Birmingham Women's Hospital, Birmingham Women’s and Children’s NHS Foundation Trust

Observed institutions: Manchester Academic Health Science Centre, Niloufer Hospital, University of Manchester, St Mary's Hospital, Manchester University NHS Foundation Trust, Birmingham Women's Hospital, Birmingham Women’s and Children’s NHS Foundation Trust

OpenAlex ID: A5083117828

The clinical presentation caused by truncating CHD8 variants

2019 · Sofia Douzgou, Hui Wen Liang, et al. · Clinical Genetics · 50

Heterozygous truncation mutations of the SMC 1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases

2017 · Joseph D. Symonds, Shelagh Joss, et al. · Epilepsia · 49

Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders

2021 · Leslie Patricia Molina-Ramírez, Claire Kyle, et al. · Journal of Medical Genetics · 39

BrainStem Encephalitis Associated with Chandipura in Andhra Pradesh Outbreak

2007 · S. Narasimha Rao, N. S. Wairagkar, et al. · Journal of Tropical Pediatrics · 16

“I’m quite proud of how we’ve handled it”: health professionals’ experiences of returning additional findings from the 100,000 genomes project

2024 · Bethany Stafford-Smith, Jana Gurasashvili, et al. · European Journal of Human Genetics · 8

Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome

2025 · Susan Walker, David J. Bunyan, et al. · Genetics in Medicine · 6

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 · Bethany Stafford-Smith, Morgan Daniel, et al. · Genetics in Medicine · 1

“I’m quite proud of how we’ve handled it”: health professionals’ experiences of returning additional findings from the 100,000 genomes project

2024 · Stafford-Smith B, Gurasashvili J, et al. · Newcastle University ePrints (Newcastle Univesity)

Author response for "The clinical presentation caused by truncating CHD8 variants"

2019 · Sofia Douzgou, Hui Wen Liang, et al.

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 · Joseph D. Symonds, Shelagh Joss, et al. · Newcastle University ePrints (Newcastle Univesity)

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

· Stafford-Smith B, Daniel M, et al. · Newcastle University ePrints (Newcastle Univesity)

Works count: 11

Citation count: 169

H-index: 6

I10-index: 4