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Nasim Vasli

Centre for Addiction and Mental Health

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Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability

2021 Translational Psychiatry
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TH11. AUTISM SPECTRUM DISORDER TRIOS FROM CONSANGUINEOUS POPULATIONS ARE ENRICHED FOR RARE BIALLELIC VARIANTS

2021 European Neuropsychopharmacology
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De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

2019 Genetics in Medicine
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WHOLE EXOME TRIO SEQUENCING IDENTIFIES NOVEL VARIANTS FOR AUTISM SPECTRUM DISORDER

2019 European Neuropsychopharmacology
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Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families

2018 Molecular Psychiatry
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Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families

2018 Molecular Psychiatry
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Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion

2017 Brain
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Identification of a homozygous missense mutation in LRP2 and a hemizygous missense mutation in TSPYL2 in a family with mild intellectual disability.

2016 Psychiatric Genetics
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Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment

2015 Human Molecular Genetics
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Biallelic Truncating Mutations in FMN2, Encoding the Actin-Regulatory Protein Formin 2, Cause Nonsyndromic Autosomal-Recessive Intellectual Disability

2014 American Journal of Human Genetics
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