Area of research
Genetics · Hematology
Research interest
Research interests include Biology, Genetics, Missense mutation, Microcephaly, Medicine, and Proband.
Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder
Biallelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a syndromic neurodevelopmental disorder
BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients
Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome
Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy
Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder
Niemann-Pick Diseases: The Largest Iranian Cohort with Genetic Analysis.
PubMed 2019cited by 9position: middle
Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variant
Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy
Novel Homozygous Missense Mutation in RYR1 Leads to Severe Congenital Ptosis, Ophthalmoplegia, and Scoliosis in the Absence of Myopathy
Deficiency of terminal ADP‐ribose protein glycohydrolase TARG1/C6orf130 in neurodegenerative disease