Charles Shaw‐Smith

Biochemistry, Genetics and Molecular Biology · Life Sciences

41h-index8.6kcitations97works25.42yr avg
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Research Topics

Genomic variations and chromosomal abnormalities(22), Genetics and Neurodevelopmental Disorders(20), Congenital heart defects research(16), Genomics and Rare Diseases(15), Congenital Diaphragmatic Hernia Studies(11)

Publications86 total

Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome
Genetics in Medicine·2025· 3 citedOpen Access
Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome
2025Open Access
Developmental trajectories in infants and pre-school children with Neurofibromatosis 1
Molecular Autism·2024· 2 citedOpen Access
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
Nature·2024· 94 citedOpen Access
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project
The American Journal of Human Genetics·2024· 28 citedOpen Access
Detailed Analysis of <scp><i>ITPR1</i></scp> Missense Variants Guides Diagnostics and Therapeutic Design
Movement Disorders·2023· 13 citedOpen Access
The Common PKD1 p.(Ile3167Phe) Variant Is Hypomorphic and Associated with Very Early Onset, Biallelic Polycystic Kidney Disease
Human Mutation·2023· 3 citedOpen Access
DLG4-related synaptopathy: a new rare brain disorder
Genetics in Medicine·2021· 48 citedOpen Access
The contribution of X-linked coding variation to severe developmental disorders
Nature Communications·2021· 63 citedOpen Access
Phenotypic and genotypic description of 44 patients with variants in DLG4 encoding the post-synaptic density protein PSD-95
2020
Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome
Human Genetics and Genomics Advances·2020· 21 citedOpen Access
Development, behaviour and sensory processing in Marshall–Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes
Journal of Intellectual Disability Research·2020· 33 citedOpen Access
An international cohort study of autosomal dominant tubulointerstitial kidney disease due to mutations identifies distinct clinical subtypes
Kidney International·2020· 40 citedOpen Access
Phenotypic expansion of <scp>Bosch–Boonstra–Schaaf</scp> optic atrophy syndrome and further evidence for genotype–phenotype correlations
American Journal of Medical Genetics Part A·2020· 42 citedOpen Access
Pathogenic Variants in GPC4 Cause Keipert Syndrome
The American Journal of Human Genetics·2019· 31 citedOpen Access
Familial interstitial nephritis: 42 years from case series to genetic diagnosis
Clinical Nephrology·2019
Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability
European Journal of Human Genetics·2018· 49 citedOpen Access
Further delineation of Malan syndrome
Human Mutation·2018· 75 citedOpen Access
Deletions and mutations of MEIS2 cause a triad of palatal defects, congenital heart defects and intellectual disability
Abstract book·2018
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis
The American Journal of Human Genetics·2017· 58 citedOpen Access
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Frequent Co-authors

Sian Ellard(11), Andrew T. Hattersley(8), Sarah E. Flanagan(7), Elisa De Franco(6), Paweł Stankiewicz(5), Lionel Willatt(5), Claire Langston(4), Richard Caswell(4), Sally Ann Lynch(4), Sarah Smithson(4), Partha Sen(3), Nigel P. Carter(3), Helen V. Firth(3), Hana Lango Allen(3), Khalid Hussain(3), Jorge Ferrer(3), David Fitzpatrick(3), Bert B.A. de Vries(3), Rolph Pfundt(3), Martin Zenker(3)