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Biallelic variants identified in 36 Pakistani families and trios with autism spectrum disorder

Scientific reports, 2024-04, Vol.14 (1), p.9230-9230, Article 9230

2024

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A novel biallelic single base insertion in WNK1 in a Pakistani family with congenital insensitivity to pain

Journal of human genetics, 2020-05, Vol.65 (5), p.493-496

2020

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Biallelic inheritance in a single Pakistani family with intellectual disability implicates new candidate gene RDH14

Scientific reports, 2021-11, Vol.11 (1), p.23113-11, Article 23113

2021

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Author Correction: Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system

Scientific reports, 2024-05, Vol.14 (1), p.10103-10103, Article 10103

2024

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Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system

Scientific reports, 2024-01, Vol.14 (1), p.570-570, Article 570

2024

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The Use of Next-Generation Sequencing for Research and Diagnostics for Intellectual Disability

Cold Spring Harbor perspectives in medicine, 2017-03, Vol.7 (3), p.a026864

2017

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Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features

American journal of human genetics, 2016-10, Vol.99 (4), p.912-916

2016

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

Translational psychiatry, 2021-01, Vol.11 (1), p.1-1, Article 1

2021

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Antidepressant-Associated Mania in Bipolar Disorder: A Review and Meta-analysis of Potential Clinical and Genetic Risk Factors

Journal of clinical psychopharmacology, 2020-03, Vol.40 (2), p.180

2020

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Exome sequencing identifies novel and known mutations in families with intellectual disability

BMC medical genomics, 2021-08, Vol.14 (1), p.211-12, Article 211

2021

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Biallelic Loss of Function Mutation in Sodium Channel Gene SCN10A in an Autism Spectrum Disorder Trio from Pakistan

Genes, 2022-09, Vol.13 (9), p.1633

2022

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Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability

Journal of human genetics, 2016-10, Vol.61 (10), p.867-872

2016

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Homozygosity mapping coupled with whole-exome sequencing and protein modelling identified a novel missense mutation in GUCY2D in a consanguineous Pakistani family with Leber congenital amaurosis

Journal of genetics, 2021-10, Vol.100 (2), Article 57

2021

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Heterozygous De Novo Truncating Mutation of Nucleolin in an ASD Individual Disrupts Its Nucleolar Localization

Genes, 2021-12, Vol.13 (1), p.51

2021

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Genome-Wide Association Study of Sleep Disturbances in Depressive Disorders

Complex psychiatry, 2020-04, Vol.5 (Suppl. 1), p.34-43

2020

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F195. ENRICHMENT OF PATHOGENIC VARIANTS ASSOCIATED WITH TREATABLE GENETIC DISEASES IN LARGE SCHIZOPHRENIA, BIPOLAR AND DEPRESSION COHORTS

Schizophrenia bulletin, 2018-04, Vol.44 (suppl_1), p.S296-S297

2018

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When rare meets common: Treatable genetic diseases are enriched in the general psychiatric population

American journal of medical genetics. Part A, 2024-08, Vol.194 (8), p.e63609-n/a

2024

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MeCP2 AT‐Hook1 mutations in patients with intellectual disability and/or schizophrenia disrupt DNA binding and chromatin compaction in vitro

Human mutation, 2018-05, Vol.39 (5), p.717-728

2018

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Prediction of physical violence in schizophrenia with machine learning algorithms

Psychiatry research, 2020-07, Vol.289, p.112960, Article 112960

2020

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SA94. When Rare Meets Common: Burden and Impact of Treatable Rare Genetic Diseases in Primary Psychiatric Populations

Schizophrenia bulletin, 2017-03, Vol.43 (suppl_1), p.S146-S147

2017

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Enrichment of pathogenic variants in genes associated with inborn errors of metabolism in psychiatric populations

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2019-01, Vol.180 (1), p.46-54

2019

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Biallelic Loss of Function Mutation in Sodium Channel Gene ISCN10A/I in an Autism Spectrum Disorder Trio from Pakistan

Genes, 2022-09, Vol.13 (9)

2022

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SU76 - INCREASED FREQUENCY OF RARE GENETIC DISEASE VARIANTS IN LARGE SCHIZOPHRENIA, BIPOLAR, AND DEPRESSION POPULATIONS

European neuropsychopharmacology, 2019, Vol.29, p.S929-S929

2019

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INCREASED FREQUENCY OF RARE GENETIC DISEASE VARIANTS IN LARGE SCHIZOPHRENIA, BIPOLAR, AND DEPRESSION POPULATIONS

European neuropsychopharmacology, 2019, Vol.29, p.S929

2019

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De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

American journal of human genetics, 2020-08, Vol.107 (2), p.311-324

2020

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Biallelic variants identified in 36 Pakistani families and trios with autism spectrum disorder

A novel biallelic single base insertion in WNK1 in a Pakistani family with congenital insensitivity to pain

Biallelic inheritance in a single Pakistani family with intellectual disability implicates new candidate gene RDH14

Author Correction: Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system

Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system

The Use of Next-Generation Sequencing for Research and Diagnostics for Intellectual Disability

Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features

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

Antidepressant-Associated Mania in Bipolar Disorder: A Review and Meta-analysis of Potential Clinical and Genetic Risk Factors

Exome sequencing identifies novel and known mutations in families with intellectual disability

Biallelic Loss of Function Mutation in Sodium Channel Gene SCN10A in an Autism Spectrum Disorder Trio from Pakistan

Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability

Homozygosity mapping coupled with whole-exome sequencing and protein modelling identified a novel missense mutation in GUCY2D in a consanguineous Pakistani family with Leber congenital amaurosis

Heterozygous De Novo Truncating Mutation of Nucleolin in an ASD Individual Disrupts Its Nucleolar Localization

Genome-Wide Association Study of Sleep Disturbances in Depressive Disorders

F195. ENRICHMENT OF PATHOGENIC VARIANTS ASSOCIATED WITH TREATABLE GENETIC DISEASES IN LARGE SCHIZOPHRENIA, BIPOLAR AND DEPRESSION COHORTS

When rare meets common: Treatable genetic diseases are enriched in the general psychiatric population

MeCP2 AT‐Hook1 mutations in patients with intellectual disability and/or schizophrenia disrupt DNA binding and chromatin compaction in vitro

Prediction of physical violence in schizophrenia with machine learning algorithms

SA94. When Rare Meets Common: Burden and Impact of Treatable Rare Genetic Diseases in Primary Psychiatric Populations

Enrichment of pathogenic variants in genes associated with inborn errors of metabolism in psychiatric populations

Biallelic Loss of Function Mutation in Sodium Channel Gene ISCN10A/I in an Autism Spectrum Disorder Trio from Pakistan

SU76 - INCREASED FREQUENCY OF RARE GENETIC DISEASE VARIANTS IN LARGE SCHIZOPHRENIA, BIPOLAR, AND DEPRESSION POPULATIONS

INCREASED FREQUENCY OF RARE GENETIC DISEASE VARIANTS IN LARGE SCHIZOPHRENIA, BIPOLAR, AND DEPRESSION POPULATIONS

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

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