Related references
Note: Only part of the references are listed.Genetic Testing in Neurodevelopmental Disorders
Juliann M. Savatt et al.
FRONTIERS IN PEDIATRICS (2021)
Recent ultra-rare inherited variants implicate new autism candidate risk genes
Amy B. Wilfert et al.
NATURE GENETICS (2021)
Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations
Floriana Valentino et al.
BRAIN SCIENCES (2021)
Nonrandom occurrence of multiple de novo coding variants in a proband indicates the existence of an oligogenic model in autism
Yaoqiang Du et al.
GENETICS IN MEDICINE (2020)
Next-generation sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disability
Ange-Line Bruel et al.
CLINICAL GENETICS (2020)
Autism spectrum disorder: definition, epidemiology, causes, and clinical evaluation
Holly Hodges et al.
TRANSLATIONAL PEDIATRICS (2020)
Intellectual disability and autism spectrum disorders 'on the fly': insights from Drosophila
Mireia Coll-Tane et al.
DISEASE MODELS & MECHANISMS (2019)
Genetic Causes and Modifiers of Autism Spectrum Disorder
Lauren Rylaarsdam et al.
FRONTIERS IN CELLULAR NEUROSCIENCE (2019)
Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder
Arnold Munnich et al.
MOLECULAR AUTISM (2019)
An Overview of Autism Spectrum Disorder, Heterogeneity and Treatment Options
Anne Masi et al.
NEUROSCIENCE BULLETIN (2017)
The Use of Next-Generation Sequencing for Research and Diagnostics for Intellectual Disability
Ricardo Harripaul et al.
Cold Spring Harbor Perspectives in Medicine (2017)
Variable expressivity of a likely pathogenic variant in KCNQ2 in a three-generation pedigree presenting with intellectual disability with childhood onset seizures
Stacy Hewson et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2017)
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders
Holly A. F. Stessman et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2016)
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy
Katherine L. Helbig et al.
GENETICS IN MEDICINE (2016)
From the genetic architecture to synaptic plasticity in autism spectrum disorder
Thomas Bourgeron
NATURE REVIEWS NEUROSCIENCE (2015)
Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families
Anas M. Alazami et al.
CELL REPORTS (2015)
Measurement of Nonverbal IQ in Autism Spectrum Disorder: Scores in Young Adulthood Compared to Early Childhood
Somer L. Bishop et al.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS (2015)
Intellectual disability and autism spectrum disorders: Causal genes and molecular mechanisms
Anand K. Srivastava et al.
NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS (2014)
Comprehensive Evaluation of the Child With Intellectual Disability or Global Developmental Delays
John B. Moeschler et al.
PEDIATRICS (2014)
Heterogeney within autism spectrum disorders: what have we learned from neuroimaging studies?
Rhoshel K. Lenroot et al.
FRONTIERS IN HUMAN NEUROSCIENCE (2013)
De novo mutations revealed by whole-exome sequencing are strongly associated with autism
Stephan J. Sanders et al.
NATURE (2012)
Genetic Analysis for Two Italian Siblings with Usher Syndrome and Schizophrenia
Daniela Domanico et al.
CASE REPORTS IN OPHTHALMOLOGICAL MEDICINE (2012)
Fast and accurate long-read alignment with Burrows-Wheeler transform
Heng Li et al.
BIOINFORMATICS (2010)
Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces
Hanka Venselaar et al.
BMC BIOINFORMATICS (2010)
Brain function and chromatin plasticity
Catherine Dulac
NATURE (2010)
Down-regulation of protocadherin-α A isoforms in mice changes contextual fear conditioning and spatial working memory
Emi Fukuda et al.
EUROPEAN JOURNAL OF NEUROSCIENCE (2008)
Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome
Zubair M. Ahmed et al.
HUMAN GENETICS (2008)
The protocadherin-α family is involved in axonal coalescence of olfactory sensory neurons into glomeruli of the olfactory bulb in mouse
Sonoko Hasegawa et al.
MOLECULAR AND CELLULAR NEUROSCIENCE (2008)
In vitro and ex vivo suppression by aminoglycosides of PCDH15 nonsense mutations underlying type 1 Usher syndrome
Annie Rebibo-Sabbah et al.
HUMAN GENETICS (2007)
Identification of long-range regulatory elements in the protocadherin-α gene cluster
Scott Ribich et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)
Autism and intellectual disability: a study of prevalence on a sample of the Italian population
G La Malfa et al.
JOURNAL OF INTELLECTUAL DISABILITY RESEARCH (2004)
Characterization of size-fractionated cDNA libraries generated by the in vitro recombination-assisted method
O Ohara et al.
DNA RESEARCH (2002)
Sensory impairments, intellectual disability and psychiatry
S Carvill
JOURNAL OF INTELLECTUAL DISABILITY RESEARCH (2001)
Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F
ZM Ahmed et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Share Paper
