Reza Maroofian

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

Biallelic <i>LGI1</i> and <i>ADAM23</i> variants cause hippocampal epileptic encephalopathy via the LGI1–ADAM22/23 pathway

A clinical and genotype-phenotype analysis of MACF1 variants

Case Report of Pediatric HPCA-Associated Dystonia: Analysis of Ca2+ and K+ Channel Dynamics and Experience With Pallidal Deep Brain Stimulation

Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications

Biallelic null variants in <i>PNPLA8</i> cause microcephaly by reducing the number of basal radial glia

Autosomal recessive <i>VWA1</i>-related disorder: comprehensive analysis of phenotypic variability and genetic mutations

Mutations in EPG5 are associated with a wide spectrum of neurodevelopmental and neurodegenerative disorders

AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

Bi-allelic <i>ACBD6</i> variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders

Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals

Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome

Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders

BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients

Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals

Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome

Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54

Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia

Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement

Biallelic <scp><i>KITLG</i></scp> variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss

Bi-allelic variants in <i>CHKA</i> cause a neurodevelopmental disorder with epilepsy and microcephaly

<scp>El‐Hattab‐Alkuraya</scp> syndrome caused by biallelic <scp><i>WDR45B</i></scp> pathogenic variants: Further delineation of the phenotype and genotype

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

Biallelic variants in <i>HPDL</i> cause pure and complicated hereditary spastic paraplegia

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies

Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism

High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases

Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia