Author details

Full Name

Maria H Chahrour

Affiliation

ORCID

Career Start Year

2004

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37492102	The genetics of autism spectrum disorder in an East African familial cohort.	Cell Genom	2023
36415077	Genomic strategies to untangle the etiology of autism: A primer.	Autism Research	2023
37924809	RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiation.	Am J Hum Genet	2023
37992166	Disruption of the autism gene and chromatin regulator KDM5A alters hippocampal cell identity.		2023
35190550	Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants.	NPJ Genom Med	2022
35690058	Tailored community engagement to address the genetics diversity gap.	Med	2022
34736554	Insights Into DDX3X Syndrome From a Novel Mouse Model With Construct and Face Validity.	Biological Psychiatry	2021
37920188	A Brief Survey of Medical Practitioner Knowledge and Attitudes Regarding Autism Spectrum Disorder in Bahir Dar, Ethiopia.		2021
33350388	<i>KDM5A</i> mutations identified in autism spectrum disorder using forward genetics.	Elife	2020
32820185	Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder.	Sci Rep	2020
29398581	The ubiquitin proteasome pathway in neuropsychiatric disorders.	Neurobiology of Learning and Memory	2019
30421579	PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features.	Am J Med Genet B Neuropsychiatr Genet	2018
27920266	Variability of Ponto-cerebellar Fibers by Diffusion Tensor Imaging in Diverse Brain Malformations.	Journal of Child Neurology	2017
28695822	haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment.	eLife	2017
28358038	Candidate Genes for Inherited Autism Susceptibility in the Lebanese Population.	Sci Rep	2017
29398929	Translating genetic and preclinical findings into autism therapies.	Dialogues in Clinical Neuroscience	2017
28288114	Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans.	Nat Genet	2017
27668390	MeCP2 and histone deacetylases 1 and 2 in dorsal striatum collectively suppress repetitive behaviors.	Nature Neuroscience	2016
27830782	Evolution of Osteocrin as an activity-regulated factor in the primate brain.	Nature	2016
27911742	Current Perspectives in Autism Spectrum Disorder: From Genes to Therapy.	Journal of Neuroscience	2016
24970834	Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice.	eLife	2014
25363760	Synaptic, transcriptional and chromatin genes disrupted in autism.	Nature	2014
25184530	The diverse genetic landscape of neurodevelopmental disorders.	Annu Rev Genomics Hum Genet	2014
23352163	Using whole-exome sequencing to identify inherited causes of autism.	Neuron	2013
23791832	Ube3a/E6AP is involved in a subset of MeCP2 functions.	Biochemical and Biophysical Research Communications	2013
22511880	Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.	PLoS Genet	2012
21068835	Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes.	Nature	2010
19369296	Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus.	Human Molecular Genetics	2009
18511691	MeCP2, a key contributor to neurological disease, activates and represses transcription.	Science	2008
17988628	The story of Rett syndrome: from clinic to neurobiology.	Neuron	2007
16389551	Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairment.	J Mol Med (Berl)	2006
16261342	A novel autosomal recessive non-syndromic hearing impairment locus (DFNB47) maps to chromosome 2p25.1-p24.3.	Hum Genet	2006
16751105	SATB2 is a multifunctional determinant of craniofacial patterning and osteoblast differentiation.	Cell	2006
15637723	Mapping of a novel autosomal recessive nonsyndromic deafness locus (DFNB46) to chromosome 18p11.32-p11.31.	Am J Med Genet A	2005
16134132	Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment.	Hum Mutat	2005
15641023	A novel autosomal recessive nonsyndromic hearing impairment locus (DFNB42) maps to chromosome 3q13.31-q22.3.	Am J Med Genet A	2005
15200512	Localization of a novel locus for hereditary nail dysplasia to chromosome 17q25.1-17q25.3.	Clin Genet	2004
15520410	A novel locus for autosomal recessive form of hypotrichosis maps to chromosome 3q26.33-q27.3.	J Med Genet	2004
15583425	DFNB44, a novel autosomal recessive non-syndromic hearing impairment locus, maps to chromosome 7p14.1-q11.22.	Hum Hered	2004