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European Journal of Medical Genetics|April 14, 2023
Clinical findings and structural analysis involving a patient with a novel KLHL15 variantRichard C Caswell, Julia Baptista, Lauren M Cairns, et al.
Journal of the Endocrine Society|November 19, 2019
Using Structural Analysis <i>In Silico</i> to Assess the Impact of Missense Variants in MEN1Richard C Caswell, Martina M Owens, Adam C Gunning, et al.
Genome Medicine|July 22, 2022
Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratoryRichard C Caswell, Adam C Gunning, Martina M Owens, et al.
JCI Insight|February 11, 2025
Quantitative hypermorphic FAM111A alleles cause autosomal recessive Kenny-Caffey syndrome type 2 and osteocraniostenosisDong Li, Niels Mailand, Emma Ewing, et al.
Scientific Reports|February 18, 2016
Pitfalls of haplotype phasing from amplicon-based long-read sequencingThomas W Laver, Richard C Caswell, Karen A Moore, et al.
Clinical Chemistry|June 14, 2020
Noninvasive Fetal Genotyping by Droplet Digital PCR to Identify Maternally Inherited Monogenic Diabetes VariantsRichard C Caswell, Tristan Snowsill, Jayne A L Houghton, et al.
Human Molecular Genetics|August 20, 2019
A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasiaCarsten Rautengarten, Oliver W Quarrell, Karen Stals, et al.
Journal of Medical Genetics|November 29, 2013
The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotypeAlexander J Hamilton, Coralie Bingham, Timothy J McDonald, et al.
HGG Advances|February 4, 2021
Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndromeEmma Wakeling, Meriel McEntagart, Michael Bruccoleri, et al.
European Journal of Human Genetics : EJHG|April 11, 2024
Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elementsThomas W Laver, Matthew N Wakeling, Richard C Caswell, et al.
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