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A null variant in PUS3 confirms its involvement in intellectual disability and further delineates the associated neurodevelopmental disease

Clinical genetics, 2018-12, Vol.94 (6), p.586-587

2018

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Bi‐allelic null variant in matrix metalloproteinase‐15, causes congenital cardiac defect, cholestasis jaundice, and failure to thrive

Clinical genetics, 2022-04, Vol.101 (4), p.403-410

2022

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A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss

American journal of medical genetics. Part A, 2017-05, Vol.173 (5), p.1257-1263

2017

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Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

Human genetics, 2017-04, Vol.136 (4), p.377-386

2017

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Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay

Metabolic brain disease, 2015-06, Vol.30 (3), p.687-694

2015

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Compound heterozygous variants in the multiple PDZ domain protein (MPDZ) cause a case of mild non-progressive communicating hydrocephalus

BMC medical genetics, 2018-03, Vol.19 (1), p.34-34, Article 34

2018

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Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings

American journal of medical genetics. Part A, 2016-01, Vol.170A (1), p.156-161

2016

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New Arab family with cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome suggests a possible founder effect for the c.223delG mutation

Journal of dermatology, 2015-08, Vol.42 (8), p.821-822

2015

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Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates

Birth defects research. A Clinical and molecular teratology, 2013-12, Vol.97 (12), p.764-769

2013

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Evaluating the Role of MAST1 as an Intellectual Disability Disease Gene: Identification of a Novel De Novo Variant in a Patient with Developmental Disabilities

Journal of molecular neuroscience, 2020-03, Vol.70 (3), p.320-327

2020

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Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

Human genetics, 2017-08, Vol.136 (8), p.1009-1011

2017

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A Novel Single-Nucleotide Deletion (c.1020delA) in NSUN2 Causes Intellectual Disability in an Emirati Child

Journal of molecular neuroscience, 2015-11, Vol.57 (3), p.393-399

2015

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A Novel Whole Exon Deletion in WWOX Gene Causes Early Epilepsy, Intellectual Disability and Optic Atrophy

Journal of molecular neuroscience, 2015-05, Vol.56 (1), p.17-23

2015

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Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variability

European journal of pediatrics, 2015-05, Vol.174 (5), p.661-668

2015

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A Novel Whole Exon Deletion in WWOX Gene Causes Early Epilepsy, Intellectual Disability and Optic Atrophy

Journal of molecular neuroscience, 2015-05, Vol.56 (1), p.17-23

2015

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LINS, a modulator of the WNT signaling pathway, is involved in human cognition

Orphanet journal of rare diseases, 2013-06, Vol.8 (1), p.87-87, Article 87

2013

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The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE

Child's nervous system, 2014-07, Vol.30 (7), p.1183-1189

2014

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Mutation spectrum of Joubert syndrome and related disorders among Arabs

Human genome variation, 2014, Vol.1 (1), p.14020-14020, Article 14020

2014

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Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort

European journal of human genetics : EJHG, 2021-01, Vol.29 (1), p.141-153

2021

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Pontocerebellar Hypoplasia Type 9: A New Case with a Novel Mutation and Review of Literature

Journal of pediatric genetics (Birmingham, Ala.), 2022-05

2022

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Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders

Brain (London, England : 1878), 2023-12, Vol.146 (12), p.5031-5043

2023

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A new Arab family with CEDNIK syndrome suggests a possible founder effect for the c.223delG mutation

Journal of dermatology, 2015-05, Vol.42 (8), p.821-822

2015

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Mutation spectrum of Joubert syndrome and related disorders among Arabs

Human genome variation, 2015-03, Vol.2, p.15001

2015

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Erratum: Mutation spectrum of Joubert syndrome and related disorders among Arabs

Human genome variation, 2015, Vol.2 (1), p.15001-15001, Article 15001

2015

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A null variant in PUS3 confirms its involvement in intellectual disability and further delineates the associated neurodevelopmental disease

Clinical genetics, 2018, Vol.94 (6), p.586-587

2018

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A null variant in PUS3 confirms its involvement in intellectual disability and further delineates the associated neurodevelopmental disease

Bi‐allelic null variant in matrix metalloproteinase‐15, causes congenital cardiac defect, cholestasis jaundice, and failure to thrive

A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay

Compound heterozygous variants in the multiple PDZ domain protein (MPDZ) cause a case of mild non-progressive communicating hydrocephalus

Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings

New Arab family with cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome suggests a possible founder effect for the c.223delG mutation

Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates

Evaluating the Role of MAST1 as an Intellectual Disability Disease Gene: Identification of a Novel De Novo Variant in a Patient with Developmental Disabilities

Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

A Novel Single-Nucleotide Deletion (c.1020delA) in NSUN2 Causes Intellectual Disability in an Emirati Child

A Novel Whole Exon Deletion in WWOX Gene Causes Early Epilepsy, Intellectual Disability and Optic Atrophy

Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variability

A Novel Whole Exon Deletion in WWOX Gene Causes Early Epilepsy, Intellectual Disability and Optic Atrophy

LINS, a modulator of the WNT signaling pathway, is involved in human cognition

The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE

Mutation spectrum of Joubert syndrome and related disorders among Arabs

Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort

Pontocerebellar Hypoplasia Type 9: A New Case with a Novel Mutation and Review of Literature

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders

A new Arab family with CEDNIK syndrome suggests a possible founder effect for the c.223delG mutation

Mutation spectrum of Joubert syndrome and related disorders among Arabs

Erratum: Mutation spectrum of Joubert syndrome and related disorders among Arabs

A null variant in PUS3 confirms its involvement in intellectual disability and further delineates the associated neurodevelopmental disease

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