Author details

Full Name

Mehdi Zarrei

Affiliation

ORCID

Career Start Year

2009

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37290907	The Phenotypic variability of 16p11.2 distal BP2-BP3 deletion in a transgenerational family and in neurodevelopmentally ascertained samples.	J Med Genet	2023
36376761	SCIP: software for efficient clinical interpretation of copy number variants detected by whole-genome sequencing.	Hum Genet	2023
37154571	Gene copy number variation and pediatric mental health/neurodevelopment in a general population.	Hum Mol Genet	2023
37280359	Three generation families: Analysis of de novo variants in autism.	Eur J Hum Genet	2023
36635662	Disruption of DDX53 coding sequence has limited impact on iPSC-derived human NGN2 neurons.	BMC Med Genomics	2023
35022430	Chromosomal microarray analysis of 410 Han Chinese patients with autism spectrum disorder or unexplained intellectual disability and developmental delay.	NPJ Genom Med	2022
36309498	Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder.	Nat Commun	2022
36368308	Genomic architecture of autism from comprehensive whole-genome sequence annotation.	Cell	2022
35501408	Mutations in trpÎ³, the homologue of TRPC6 autism candidate gene, causes autism-like behavioral deficits in Drosophila.	Mol Psychiatry	2022
35613588	Regionally defined proteomic profiles of human cerebral tissue and organoids reveal conserved molecular modules of neurodevelopment.	Cell Rep	2022
35668055	Rare CACNA1H and RELN variants interact through mTORC1 pathway in oligogenic autism spectrum disorder.	Transl Psychiatry	2022
34851367	Deletion of Loss-of-Function-Intolerant Genes and Risk of 5 Psychiatric Disorders.	JAMA Psychiatry	2022
34664255	Copy number variations in a Brazilian cohort with autism spectrum disorders highlight the contribution of cell adhesion genes.	Clin Genet	2022
34795304	Homozygous duplication identified by whole genome sequencing causes LRBA deficiency.	NPJ Genom Med	2021
34145395	Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotype.	Genet Med	2021
33597717	RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes.	Mol Psychiatry	2021
34802461	Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.	Hum Genomics	2021
33110418	Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome Sequences.	Front Genet	2020
32375678	Ancestry and frequency of genetic variants in the general population are confounders in the characterization of germline variants linked to cancer.	BMC Med Genet	2020
31696658	Meta-Analyses Support Previous and Novel Autism Candidate Genes: Outcomes of an Unexplored Brazilian Cohort.	Autism Res	2020
32372567	Segregating patterns of copy number variations in extended autism spectrum disorder (ASD) pedigrees.	Am J Med Genet B Neuropsychiatr Genet	2020
31953991	Refining critical regions in 15q24 microdeletion syndrome pertaining to autism.	Am J Med Genet B Neuropsychiatr Genet	2020
31044088	Expanding the neurodevelopmental phenotypes of individuals with de novo <i>KMT2A</i> variants.	NPJ Genom Med	2019
31602316	A large data resource of genomic copy number variation across neurodevelopmental disorders.	NPJ Genom Med	2019
30411505	Rare copy number variation in extremely impulsively violent males.	Genes Brain Behav	2019
29152845	Association of IMMP2L deletions with autism spectrum disorder: A trio family study and meta-analysis.	Am J Med Genet B Neuropsychiatr Genet	2018
28771244	De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy.	Genet Med	2018
29890955	A genome-wide linkage study of autism spectrum disorder and the broad autism phenotype in extended pedigrees.	J Neurodev Disord	2018
30166462	Rearrangement bursts generate canonical gene fusions in bone and soft tissue tumors.	Science	2018
29533680	Copy number variation in fetal alcohol spectrum disorder.	Biochem Cell Biol	2018
28263302	Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.	Nat Neurosci	2017
28430790	Whole-genome sequencing suggests mechanisms for 22q11.2 deletion-associated Parkinson's disease.	PLoS One	2017
28371330	A de novo deletion in a boy with cerebral palsy suggests a refined critical region for the 4q21.22 microdeletion syndrome.	Am J Med Genet A	2017
28649445	Variable phenotype expression in a family segregating microdeletions of the <i>NRXN1</i> and <i>MBD5</i> autism spectrum disorder susceptibility genes.	NPJ Genom Med	2017
29152164	Mutations in <i>RAB39B</i> in individuals with intellectual disability, autism spectrum disorder, and macrocephaly.	Mol Autism	2017
27777633	Uncovering obsessive-compulsive disorder risk genes in a pediatric cohort by high-resolution analysis of copy number variation.	J Neurodev Disord	2016
27363808	Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay.	Sci Rep	2016
27531570	Microcephaly-capillary malformation syndrome: Brothers with a homozygous STAMBP mutation, uncovered by exome sequencing.	Am J Med Genet A	2016
27525107	Genome-wide characteristics of <i>de novo</i> mutations in autism.	NPJ Genom Med	2016
26236009	Clinically relevant copy number variations detected in cerebral palsy.	Nat Commun	2015
25926325	DNA barcodes from four loci provide poor resolution of taxonomic groups in the genus Crataegus.	AoB PLANTS	2015
25621899	Whole-genome sequencing of quartet families with autism spectrum disorder.	Nat Med	2015
25645873	A copy number variation map of the human genome.	Nat Rev Genet	2015
26384369	Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion Syndrome.	G3 (Bethesda)	2015
24843290	Crataegus Ã¿ninae-celottiae and C. Ã¿cogswellii (Rosaceae, Maleae), two spontaneously formed intersectional nothospecies.	PhytoKeys	2014
24984714	Reticulate evolution in North American black-fruited hawthorns (Crataegus section Douglasia; Rosaceae): evidence from nuclear ITS2 and plastid sequences.	Annals of Botany	2014
22119064	Speciation and evolution in the Gagea reticulata species complex (Tulipeae; Liliaceae).	Molecular Phylogenetics and Evolution	2012
21693665	Five vicariant genera from Gondwana: the Velloziaceae as shown by molecules and morphology [corrected].	Annals of Botany	2011
19451146	Molecular systematics of Gagea and Lloydia (Liliaceae; Liliales): implications of analyses of nuclear ribosomal and plastid DNA sequences for infrageneric classification.	Annals of Botany	2009