Genetic basis for congenital heart disease: revisited: a scientific statement from the American Heart Association
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 …
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
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 …
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 …
correlations, including facial recognition tools. However, no unified framework that …
Multi-platform discovery of haplotype-resolved structural variation in human genomes
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 …
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 …
unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders …
A copy number variation morbidity map of developmental delay
To understand the genetic heterogeneity underlying developmental delay, we compared
copy number variants (CNVs) in 15,767 children with intellectual disability and various …
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 …
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 …
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
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Recurrent reciprocal 16p11. 2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size
Background Deletion and the reciprocal duplication in 16p11. 2 were recently associated
with autism and developmental delay. Method We indentified 27 deletions and 18 …
with autism and developmental delay. Method We indentified 27 deletions and 18 …