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 …

Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability

RLP Santos-Cortez, V Khan, FS Khan, ZN Mughal… - Human genetics, 2018 - Springer
Identification of Mendelian genes for neurodevelopmental disorders using exome
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 …

Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families

R Harripaul, N Vasli, A Mikhailov, MA Rafiq… - Molecular …, 2018 - nature.com
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 …

Intellectual disability: dendritic anomalies and emerging genetic perspectives

TT Quach, HJ Stratton, R Khanna, PE Kolattukudy… - Acta …, 2021 - Springer
Intellectual disability (ID) corresponds to several neurodevelopmental disorders of
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 …

[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 …

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 …