Kirti Mittal

Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families

Ricardo Harripaul, Nasim Vasli, Muhammad Rafiq et al. · Molecular Psychiatry · 2017 · 183 citations

Life Sciences, Genetics, Molecular Genetics +17

An autoantibody identifies arrhythmogenic right ventricular cardiomyopathy and participates in its pathogenesis

Diptendu Chatterjee, Meena Fatah, Deniz Akdiş et al. · European Heart Journal · 2018 · 159 citations · Full text

Life Sciences, Cardiology, Genetics +15

Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse

Dévina C. Ung, Giovanni Iacono, Hamid Méziane et al. · Molecular Psychiatry · 2017 · 89 citations · Full text

Life Sciences, Genetics, Neuroscience +17

15q11.2 Duplication Encompassing Only the<i>UBE3A</i>Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes

Abdul Noor, Lucie Dupuis, Kirti Mittal et al. · Human Mutation · 2015 · 79 citations

Life Sciences, Genetics, Molecular Genetics +15

Biallelic Truncating Mutations in FMN2, Encoding the Actin-Regulatory Protein Formin 2, Cause Nonsyndromic Autosomal-Recessive Intellectual Disability

Rosalind Law, Tracy Dixon‐Salazar, Julie Jerber et al. · The American Journal of Human Genetics · 2014 · 71 citations · Full text

Life Sciences, Genetics, Neuroscience +17