Epigenetics, copy number variation, and other molecular mechanisms underlying neurodevelopmental disabilities: new insights and diagnostic approaches
AL Gropman, ML Batshaw - Journal of Developmental & …, 2010 - journals.lww.com
The diagnostic evaluation of children with intellectual disability (ID) and other
neurodevelopmental disabilities (NDD) has become increasingly complex in recent years …
neurodevelopmental disabilities (NDD) has become increasingly complex in recent years …
Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability
Identification of Mendelian genes for neurodevelopmental disorders using exome
sequencing to study autosomal recessive (AR) consanguineous pedigrees has been highly …
sequencing to study autosomal recessive (AR) consanguineous pedigrees has been highly …
Deep sequencing reveals 50 novel genes for recessive cognitive disorders
H Najmabadi, H Hu, M Garshasbi, T Zemojtel… - Nature, 2011 - nature.com
Common diseases are often complex because they are genetically heterogeneous, with
many different genetic defects giving rise to clinically indistinguishable phenotypes. This has …
many different genetic defects giving rise to clinically indistinguishable phenotypes. This has …
Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families
Approximately 1% of the global population is affected by intellectual disability (ID), and the
majority receive no molecular diagnosis. Previous studies have indicated high levels of …
majority receive no molecular diagnosis. Previous studies have indicated high levels of …
Intellectual disability: dendritic anomalies and emerging genetic perspectives
Intellectual disability (ID) corresponds to several neurodevelopmental disorders of
heterogeneous origin in which cognitive deficits are commonly associated with …
heterogeneous origin in which cognitive deficits are commonly associated with …
[HTML][HTML] Autism Genetic Database (AGD): a comprehensive database including autism susceptibility gene-CNVs integrated with known noncoding RNAs and fragile …
G Matuszek, Z Talebizadeh - BMC medical genetics, 2009 - Springer
Background Autism is a highly heritable complex neurodevelopmental disorder, therefore
identifying its genetic basis has been challenging. To date, numerous susceptibility genes …
identifying its genetic basis has been challenging. To date, numerous susceptibility genes …
[HTML][HTML] Genomic diagnosis for children with intellectual disability and/or developmental delay
KM Bowling, ML Thompson, MD Amaral, CR Finnila… - Genome medicine, 2017 - Springer
Background Developmental disabilities have diverse genetic causes that must be identified
to facilitate precise diagnoses. We describe genomic data from 371 affected individuals, 309 …
to facilitate precise diagnoses. We describe genomic data from 371 affected individuals, 309 …
Autosomal dominant intellectual disability
D Wieczorek - medizinische genetik, 2018 - degruyter.com
Zusammenfassung Die Intelligenzminderung, geistige Behinderung, ist eine heterogene
Entität, die definiert ist als Beeinträchtigung der kognitiven und adaptiven Funktionen mit …
Entität, die definiert ist als Beeinträchtigung der kognitiven und adaptiven Funktionen mit …