The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting
PD Stenson, M Mort, EV Ball, M Chapman, K Evans… - Human genetics, 2020 - Springer
Abstract The Human Gene Mutation Database (HGMD®) constitutes a comprehensive
collection of published germline mutations in nuclear genes that are thought to underlie, or …
collection of published germline mutations in nuclear genes that are thought to underlie, or …
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation …
PD Stenson, M Mort, EV Ball, K Evans, M Hayden… - Human genetics, 2017 - Springer
Abstract The Human Gene Mutation Database (HGMD®) constitutes a comprehensive
collection of published germline mutations in nuclear genes that underlie, or are closely …
collection of published germline mutations in nuclear genes that underlie, or are closely …
Genetic studies in intellectual disability and related disorders
Genetic factors play a major part in intellectual disability (ID), but genetic studies have been
complicated for a long time by the extreme clinical and genetic heterogeneity. Recently …
complicated for a long time by the extreme clinical and genetic heterogeneity. Recently …
The genetic basis of Mendelian phenotypes: discoveries, challenges, and opportunities
JX Chong, KJ Buckingham, SN Jhangiani… - The American Journal of …, 2015 - cell.com
Discovering the genetic basis of a Mendelian phenotype establishes a causal link between
genotype and phenotype, making possible carrier and population screening and direct …
genotype and phenotype, making possible carrier and population screening and direct …
The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic …
PD Stenson, M Mort, EV Ball, K Shaw, AD Phillips… - Human genetics, 2014 - Springer
Abstract The Human Gene Mutation Database (HGMD®) is a comprehensive collection of
germline mutations in nuclear genes that underlie, or are associated with, human inherited …
germline mutations in nuclear genes that underlie, or are associated with, human inherited …
Rare-disease genetics in the era of next-generation sequencing: discovery to translation
Work over the past 25 years has resulted in the identification of genes responsible for~ 50%
of the estimated 7,000 rare monogenic diseases, and it is predicted that most of the …
of the estimated 7,000 rare monogenic diseases, and it is predicted that most of the …
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease
Some individuals with a particular disease-causing mutation or genotype fail to express
most if not all features of the disease in question, a phenomenon that is known as 'reduced …
most if not all features of the disease in question, a phenomenon that is known as 'reduced …
[HTML][HTML] American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants
HM Kearney, EC Thorland, KK Brown… - Genetics in …, 2011 - Elsevier
Genomic microarrays used to assess DNA copy number are now recommended as first-tier
tests for the postnatal evaluation of individuals with intellectual disability, autism spectrum …
tests for the postnatal evaluation of individuals with intellectual disability, autism spectrum …
Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis
The contribution of cis-regulatory mutations to human disease remains poorly understood.
Whole-genome sequencing can identify all noncoding variants, yet the discrimination of …
Whole-genome sequencing can identify all noncoding variants, yet the discrimination of …
Deleterious-and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing
Y Xue, Y Chen, Q Ayub, N Huang, EV Ball… - The American Journal of …, 2012 - cell.com
We have assessed the numbers of potentially deleterious variants in the genomes of
apparently healthy humans by using (1) low-coverage whole-genome sequence data from …
apparently healthy humans by using (1) low-coverage whole-genome sequence data from …