RL
Richard Alan Lewis

Elite Scholar

388
Works
28,256
Citations
85
H-Index
Search Authors
Author Statistics
External Links
OpenAlex Profile ORCID Profile

Richard Alan Lewis

Also known as: Lewis, Richard, Lewis, Richard A., Lewis, Richard Alan, R A Lewis, R. A. Lewis

388

Total Works

28,256

Citations

85

H-Index

239

i10-Index

Citation & Works Trend by Year
54 years active
Top Research Topics
Genomics and Rare Diseases (166) Retinal Development and Disorders (114) Genetic and Kidney Cyst Diseases (59) Genetics and Neurodevelopmental Disorders (58) Retinal Diseases and Treatments (56)
Recent Publications
15 shown
Year Publication Title Citations Action
2026 Arriving at a diagnosis: Effective strategies used by the Undiagnosed Diseases Network Genetics in Medicine 0
2026 Not the end of the road: Achieving diagnoses following non-diagnostic exome sequencing: experiences at a clinical site of the Undiagnosed Diseases Network Genetics in Medicine 0
2026 Expanding the clinical and molecular spectrum of TUBB2B through distinct variants identified across multiple families Human Genetics and Genomics Advances 1
2026 “It didn’t feel like anything unusual because we had already been through so much”: Disability-related research experiences of families with children enrolled in the undiagnosed diseases network Genetics in Medicine 0
2026 Uncovering phenotypic expansion in AXIN2-related disorders through precision animal modeling Genetics in Medicine 0
2026 Ensilication preserves high-molecular weight native DNA for clinical long-read sequencing Genome biology 1
2026 Biallelic LAMP3 variants in 5 families with interstitial lung disease: Evidence of a disease-gene association Genetics in Medicine 4
2026 P145: Expanding the genetic and phenotypic spectrum of ectodermal dysplasia using short- and long-read genome sequencing Genetics in Medicine Open 0
2026 Uncovering phenotypic expansion in AXIN2-related disorders through precision animal modeling Radar (Oxford Brookes University) 0
2025 GREGoR: accelerating genomics for rare diseases Nature 22
2025 An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser Genome Medicine 17
2025 CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathies Science Advances 1
2025 Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations Nature Communications 8
2025 ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy Genetics in Medicine 4
2025 Charcot-Marie-Tooth disease type 1E: clinical natural history and molecular impact of PMP22 variants Brain 8

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