Genetic basis for congenital heart disease: revisited: a scientific statement from the American Heart Association

ME Pierpont, M Brueckner, WK Chung, V Garg… - Circulation, 2018 - Am Heart Assoc
This review provides an updated summary of the state of our knowledge of the genetic
contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial …

New insights into the generation and role of de novo mutations in health and disease

R Acuna-Hidalgo, JA Veltman, A Hoischen - Genome biology, 2016 - Springer
Aside from inheriting half of the genome of each of our parents, we are born with a small
number of novel mutations that occurred during gametogenesis and postzygotically. Recent …

PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework

AJM Dingemans, M Hinne, KMG Truijen, L Goltstein… - Nature Genetics, 2023 - nature.com
Several molecular and phenotypic algorithms exist that establish genotype–phenotype
correlations, including facial recognition tools. However, no unified framework that …

Multi-platform discovery of haplotype-resolved structural variation in human genomes

MJP Chaisson, AD Sanders, X Zhao, A Malhotra… - Nature …, 2019 - nature.com
The incomplete identification of structural variants (SVs) from whole-genome sequencing
data limits studies of human genetic diversity and disease association. Here, we apply a …

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

DT Miller, MP Adam, S Aradhya, LG Biesecker… - The American Journal of …, 2010 - cell.com
Chromosomal microarray (CMA) is increasingly utilized for genetic testing of individuals with
unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders …

A copy number variation morbidity map of developmental delay

GM Cooper, BP Coe, S Girirajan, JA Rosenfeld… - Nature …, 2011 - nature.com
To understand the genetic heterogeneity underlying developmental delay, we compared
copy number variants (CNVs) in 15,767 children with intellectual disability and various …

De novo mutations in human genetic disease

JA Veltman, HG Brunner - Nature Reviews Genetics, 2012 - nature.com
New mutations have long been known to cause genetic disease, but their true contribution to
the disease burden can only now be determined using family-based whole-genome or …

Human genome sequencing in health and disease

C Gonzaga-Jauregui, JR Lupski… - Annual review of …, 2012 - annualreviews.org
Following the “finished,” euchromatic, haploid human reference genome sequence, the
rapid development of novel, faster, and cheaper sequencing technologies is making …

Genomics, intellectual disability, and autism

HC Mefford, ML Batshaw… - New England Journal of …, 2012 - Mass Medical Soc
Genomics, Intellectual Disability, and Autism | New England Journal of Medicine Skip to main
content The New England Journal of Medicine homepage Advanced Search SEARCH …

Recurrent reciprocal 16p11. 2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

M Shinawi, P Liu, SHL Kang, J Shen… - Journal of medical …, 2010 - jmg.bmj.com
Background Deletion and the reciprocal duplication in 16p11. 2 were recently associated
with autism and developmental delay. Method We indentified 27 deletions and 18 …