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Kirti Mittal | doi.page

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Kirti Mittal

Mount Sinai Hospital(CA)Lunenfeld-Tanenbaum Research Institute(CA)

Publications by Year

Research Areas

Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Autism Spectrum Disorder Research, Chromosomal and Genetic Variations

Most-Cited Works

→ Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families(2017)182 cited
→ An autoantibody identifies arrhythmogenic right ventricular cardiomyopathy and participates in its pathogenesis(2018)152 cited
→ Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse(2017)86 cited
→ 15q11.2 Duplication Encompassing Only theUBE3AGene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes(2015)78 cited
→ Biallelic Truncating Mutations in FMN2, Encoding the Actin-Regulatory Protein Formin 2, Cause Nonsyndromic Autosomal-Recessive Intellectual Disability(2014)71 cited
→ Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment(2015)58 cited

→ Ankyrin-B dysfunction predisposes to arrhythmogenic cardiomyopathy and is amenable to therapy(2019)

56 cited

→ Truncation of the E3 ubiquitin ligase component FBXO31 causes non-syndromic autosomal recessive intellectual disability in a Pakistani family(2014)35 cited

→ Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorder(2014)33 cited

→ Mutations in the histamineN-methyltransferase gene,HNMT, are associated with nonsyndromic autosomal recessive intellectual disability(2015)33 cited