M. Ayub

发表

Prevalence of nonaffective psychosis in intellectually disabled clients: systematic review and meta-analysis

Farooq Naeem, S. Farooq, Hasan Aman, 2016, Psychiatric genetics.

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

J. Vincent, A. Caglayan, R. Abou Jamra, 2016, American journal of human genetics.

Parental Consanguineous Marriages are Associated with Early Age of Onset of Schizophrenia in a Pakistani Cohort

Farooq Naeem, S. Mahmood, S. Hasnain, 2017 .

Disabilities : Towards Personalized Medicine Highlights

M. Ayub, B. Mccreary, 2015 .

Exome sequencing identifies de novo splicing variant in XRCC6 in sporadic case of autism

A. Guerin, M. Ayub, Xudong Liu, 2019, Journal of Human Genetics.

Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2017, Scientific Reports.

A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles.

S. Basit, W. Ahmad, M. Jelani, 2009, American journal of human genetics.

Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3)

W. Ahmad, M. Amin-ud-din, M. Jelani, 2008, Human Genetics.

Genome Wide Linkage Analysis of 972 Bipolar Pedigrees Using Single Nucleotide Polymorphisms

Daniel L. Koller, G. Kirov, D. Grozeva, 2011, Molecular Psychiatry.

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

J. Vincent, S. Santangelo, N. Vasli, 2021, Genes.

Universitet Low-frequency variation in TP 53 has large effects on head circumference and intracranial

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2019 .

Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

Tom R. Gaunt, Hashem A. Shihab, Gail P. Clement, 2018, bioRxiv.

Disease causing homozygous variants in the human hairless gene

W. Ahmad, S. Khan, Irfanullah, 2016, International journal of dermatology.

Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families

S. Basit, W. Ahmad, M. Ayub, 2011, The Journal of dermatology.

CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.

A. Noor, J. Vincent, A. Paterson, 2008, American journal of human genetics.

Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan

S. Basit, W. Ahmad, R. Habib, 2011, Clinical and experimental dermatology.

Truncation of the E3 ubiquitin ligase component FBXO31 causes non-syndromic autosomal recessive intellectual disability in a Pakistani family

J. Vincent, M. Rafiq, J. So, 2014, Human Genetics.

Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3.

A. Noor, J. Vincent, B. Alman, 2009, American journal of human genetics.

Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability

J. Vincent, G. Webersinke, C. Enzinger, 2014, Human molecular genetics.

Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders

Minna Männikkö, David Curtis, Peter Holmans, 2016, Nature Neuroscience.

A Family With Multiple Cases of Schizophrenia and Mild Intellectual Impairment Also Associated With Retinitis Pigmentosa and / or Progressive Hearing Loss

P. Visscher, N. Wray, A. McRae, 2013 .

Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2019, Nature Communications.

Editorial: Developmental delay and intellectual disability

A. Munshi, S. Banerjee, M. Ayub, 2022, Frontiers in Genetics.

Identification of genomic deletions spanning the PCDH19 gene in two unrelated girls with intellectual disability and seizures

A. Noor, C. Morel, M. Ayub, 2012, Clinical genetics.

Interplay between maternal Slc6a4 mutation and prenatal stress: a possible mechanism for autistic behavior development

Patrick M. Hecht, D. Beversdorf, Nansheng Chen, 2017, Scientific Reports.

Genetics Of Human Hereditary Hearing Impairment.

M. Ayub, Rahat Meena, 2017, Journal of Ayub Medical College, Abbottabad : JAMC.

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

J. Vincent, S. Mahmood, S. Maqbool, 2022, Genes.

Biallelic missense variants in ZBTB11 can cause intellectual disability in humans

J. Vincent, T. Wienker, H. Ropers, 2018, Human molecular genetics.

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

J. Vincent, M. Rafiq, G. Rouleau, 2014, Human Genetics.

Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2018, bioRxiv.

A novel missense mutation in the ectodysplasin‐A (EDA) gene underlies X‐linked recessive nonsyndromic hypodontia

W. Ahmad, M. Ayub, M. Yasinzai, 2010, International journal of dermatology.

Ethnobotanical and Biochemical Study of Berberis lycium Royle Collected from Different Areas of Azad Jammu and Kashmir

Zeeshan Anjum, Ghazanfar Ali, M. Ayub, 2021, Evidence-based complementary and alternative medicine : eCAM.

Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability.

S. Gabriel, J. Vincent, M. Rafiq, 2014, American journal of human genetics.

Identification and In Silico Analysis of a Homozygous Nonsense Variant in TGM1 Gene Segregating with Congenital Ichthyosis in a Consanguineous Family

Abdul Hadi Almazroea, M. Ayub, Rozeena Shaikh, 2023, Medicina.

Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability.

A. Noor, J. Vincent, R. Weksberg, 2012, American journal of human genetics.

Anti–hepatits B core antigen testing, viral markers, and occult hepatitis B virus infection in Pakistani blood donors: implications for transfusion practice

Z. Ullah, E. Ghani, M. Ayub, 2007, Transfusion.

Thalassemia Patients from Baluchistan in Pakistan Are Infected with Multiple Hepatitis B or C Virus Strains

M. Naeem, M. Ayub, H. Norder, 2021, The American journal of tropical medicine and hygiene.

De novo duplication on Chromosome 19 observed in nuclear family displaying neurodevelopmental disorders

A. Guerin, M. Ayub, Xudong Liu, 2020, Cold Spring Harbor molecular case studies.

Common Genetic Etiologies and Biological Pathways Shared Between Autism Spectrum Disorders and Intellectual Disabilities

A. Noor, J. Vincent, M. Ayub, 2011 .

CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.

Andrew D Paterson, Abdul Noor, A. Noor, 2008, American journal of human genetics.

Autism spectrum disorder trios from consanguineous populations are enriched for rare biallelic variants, identifying 32 new candidate genes

J. Vincent, J. Knowles, L. French, 2021, medRxiv.

Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability.

A. Noor, J. Vincent, R. Weksberg, 2011, American journal of human genetics.

Citation for Published Item: Use Policy the Genetic Basis of Non-syndromic Intellectual Disability: a Review

John B. Vincent, J. Vincent, Muhammad Ayub, 2022 .

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

Abdul Noor, A. Noor, J. Vincent, 2017, Cold Spring Harbor perspectives in medicine.

Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2017, Scientific Reports.

UK 10 K Consortium

Tom R. Gaunt, Hashem A. Shihab, Gail P. Clement, 2019 .

Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis

J. Shendure, D. Nickerson, S. Leal, 2016, International journal of dermatology.

Mutations in CIB2, a calcium and integrin binding protein, cause Usher syndrome type 1J and nonsyndromic deafness DFNB48

G. P. Sinha, S. Leal, M. Tekin, 2012, Nature Genetics.

Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.

J. Shendure, D. Nickerson, S. Leal, 2014, American journal of human genetics.

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

J. Vincent, M. Rafiq, A. Bhatti, 2016, Psychiatric genetics.

Phosphoserine phosphatase (PSPH) gene mutation in an intellectual disability family from Pakistan

J. Vincent, M. Rafiq, E. Schaftingen, 2015, Clinical genetics.

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

A. Noor, J. Vincent, M. Rafiq, 2017, Molecular Psychiatry.

Localization of a novel autosomal recessive hypotrichosis locus (LAH3) to chromosome 13q14.11–q21.32

P. John, W. Ahmad, M. Ayub, 2007, Clinical genetics.

Phylogenomics reveals viral sources, transmission, and potential superinfection in early-stage COVID-19 patients in Ontario, Canada

R. Colautti, G. Evans, Zhengxin Sun, 2021, Scientific Reports.

GPT2 mutations in autosomal recessive developmental disability: extending the clinical phenotype and population prevalence estimates

J. Vincent, Judy S. H. Liu, E. Morrow, 2019, Human Genetics.

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

E. Eichler, J. Vincent, D. Nickerson, 2019, Genetics in Medicine.

Truncation of the E3 ubiquitin ligase component FBXO31 causes non-syndromic autosomal recessive intellectual disability in a Pakistani family

J. Vincent, M. Rafiq, J. So, 2014, Human Genetics.

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

J. Vincent, M. Rafiq, Farooq Naeem, 2016, Journal of Human Genetics.

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

J. Vincent, M. Rafiq, H. Sticht, 2015, Human molecular genetics.

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

J. Vincent, C. Schwarzer, K. Girisha, 2021, Translational Psychiatry.

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

R. Pfundt, C. Cytrynbaum, J. Vincent, 2020, American journal of human genetics.

Apparent Missense Mutation in COL7A1 Causes a Severe Form of Recessive Dystrophic Epidermolysis Bullosa via Effects on Splicing

S. Basit, R. Betz, M. Naeem, 2020, Acta dermato-venereologica.

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

J. Vincent, M. Ayub, R. Harripaul, 2018, Human mutation.

Biallelic mutations in the LPAR6 gene causing autosomal recessive wooly hair/hypotrichosis phenotype in five Pakistani families

S. Basit, F. Rehman, S. Khan, 2019, International journal of dermatology.

Mutations in the lipase‐H gene causing autosomal recessive hypotrichosis and woolly hair

W. Ahmad, M. Ayub, G. Ali, 2015, The Australasian journal of dermatology.

Mutations in the P2RY5 gene underlie autosomal recessive hypotrichosis in 13 Pakistani families

S. Basit, W. Ahmad, S. I. Raza, 2009, British Journal of Dermatology.

Mutation Analysis of the ASPM Gene in 18 Pakistani Families With Autosomal Recessive Primary Microcephaly

S. Basit, W. Ahmad, M. Jelani, 2010, Journal of child neurology.

Frameshift Sequence Variants in the Human Lipase‐H Gene Causing Hypotrichosis

W. Ahmad, M. Ayub, M. Younus, 2016, Pediatric dermatology.

Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations

Melissa J. Green, Janice M. Fullerton, J. L. Ayuso, 2023, Nature Genetics.

Interplay between maternal Slc6a4 mutation and prenatal stress: a possible mechanism for autistic behavior development

Patrick M. Hecht, D. Beversdorf, Nansheng Chen, 2017, Scientific Reports.

Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation.

A. Noor, J. Vincent, R. Weksberg, 2009, American journal of human genetics.

Association of smoked cannabis with treatment resistance in schizophrenia

J. Vincent, O. Ayonrinde, M. Tariq, 2019, Psychiatry Research.

GENE DISCOVERY IN SCHIZOPHRENIA AND GENE DISCOVERY IN SCHIZOPHRENIA AND GENE DISCOVERY IN SCHIZOPHRENIA AND GENE DISCOVERY IN SCHIZOPHRENIA AND GENE DISCOVERY IN SCHIZOPHRENIA AND BIPOLAR DISORDER BIPOLAR DISORDER BIPOLAR DISORDER BIPOLAR DISORDER BIPOLAR DISORDER

D. Blackwood, M. Ayub, Douglas Blackwood Muhammad Ayub, 2008 .

Homozygosity for the 10-repeat dopamine transporter (DAT1) allele is associated with reduced EEG response in males with ASD

M. Sabbagh, M. Ayub, Xudong Liu, 2019, Research in Autism Spectrum Disorders.

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

J. Vincent, O. Islam, M. Jelani, 2021, Scientific Reports.

A genome wide survey supports the involvement of large copy number variants in schizophrenia with and without intellectual disability

P. Visscher, N. Wray, A. McRae, 2013, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Homozygosity mapping in a family presenting with schizophrenia, epilepsy and hearing impairment

D. Blackwood, W. Muir, B. Pickard, 2008, European Journal of Human Genetics.

Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability.

J. Vincent, H. Stehr, H. Ropers, 2015, Human molecular genetics.

Three Mutations in the Bilateral Frontoparietal Polymicrogyria Gene GPR56 in Pakistani Intellectual Disability Families

J. Vincent, M. Rafiq, Farooq Naeem, 2017, Journal of Pediatric Genetics.

Homozygosity mapping of autosomal recessive intellectual disability loci in 11 consanguineous Pakistani families

J. Vincent, M. Rafiq, A. Bhatti, 2014, Acta Neuropsychiatrica.

Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features

J. Vincent, M. Rafiq, L. Mottron, 2015, BMC Medical Genetics.

Chasing the origin of SARS-CoV-2 in Canada’s COVID-19 cases: A genomics study

R. Colautti, G. Evans, S. Perez-Patrigeon, 2020, bioRxiv.

Biallelic truncating SCN9A mutation identified in four families with congenital insensitivity to pain from Pakistan

J. Vincent, M. Ayub, R. Harripaul, 2016, Clinical genetics.

Rare loss-of-function variants in KMT2F are associated with schizophrenia and developmental disorders

J. Danesh, M. Daly, M. Hurles, 2016, bioRxiv.

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

J. Vincent, R. Abou Jamra, J. Gleeson, 2016, American journal of human genetics.

Mutations in CIB2, a calcium and integrin binding protein, cause Usher syndrome type 1J and nonsyndromic deafness DFNB48

G. P. Sinha, S. Leal, M. Tekin, 2012, Nature Genetics.

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

M. Rafiq, H. Sticht, A. Reis, 2015, Human Molecular Genetics.