Lista de obras -

A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report

artículo científico publicado en 2016

A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies

artículo científico publicado en 2016

A novel deletion of the MEN1 gene in a large family of multiple endocrine neoplasia type 1 (MEN1) with aggressive phenotype

artículo científico publicado en 2011

A null mutation in TNIK defines a novel locus for intellectual disability

artículo científico publicado en 2016

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

artículo científico publicado en 2014

Allelic heterogeneity in inbred populations: the Saudi experience with Alström syndrome as an illustrative example

artículo científico publicado en 2009

Association of a mutation in LACC1 with a monogenic form of systemic juvenile idiopathic arthritis

artículo científico publicado en 2015

Autozygome maps dispensable DNA and reveals potential selective bias against nullizygosity

artículo científico publicado en 2012

Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation

artículo científico publicado en 2017

Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development.

artículo científico publicado en 2018

CORRIGENDUM: Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation

artículo científico publicado en 2018

Characterizing the morbid genome of ciliopathies. ⬇️

artículo científico publicado en 2016

Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome

artículo científico publicado en 2014

Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden

artículo científico publicado en 2016

Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families

artículo científico publicado en 2016

Congenital disorder of glycosylation IIa: The trouble with diagnosing a dysmorphic inborn error of metabolism

scientific article published on 21 November 2011

Correction to: Expanding the genetic heterogeneity of intellectual disability.

artículo científico publicado en 2017

Correction to: Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism

artículo científico publicado en 2017

De novo truncating variants in WHSC1 recapitulate the Wolf-Hirschhorn (4p16.3 microdeletion) syndrome phenotype

artículo científico publicado en 2018

Established and candidate transthyretin amyloidosis variants identified in the Saudi population by data mining

artículo científico publicado en 2021

Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B Gene

article

Exome-based case-control association study using extreme phenotype design reveals novel candidates with protective effect in diabetic retinopathy

artículo científico publicado en 2015

Expanding phenotypic and allelic heterogeneity of tricho-hepato-enteric syndrome

artículo científico publicado en 2015

Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies

artículo científico publicado en 2015

Expanding the genetic heterogeneity of intellectual disability

artículo científico publicado en 2017

Expanding the phenome and variome of skeletal dysplasia.

artículo científico publicado en 2018

Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.

artículo científico publicado en 2014

Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities

artículo científico publicado en 2018

Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel

artículo científico publicado en 2016

High Incidence of Severe Combined Immunodeficiency Disease in Saudi Arabia Detected Through Combined T Cell Receptor Excision Circle and Next Generation Sequencing of Newborn Dried Blood Spots

artículo científico publicado en 2018

Identification of a novel MKS locus defined by TMEM107 mutation

artículo científico publicado en 2015

Identification of a novel genetic locus underlying tremor and dystonia.

artículo científico publicado en 2017

Integrated Analysis of Whole Exome Sequencing and Copy Number Evaluation in Parkinson's Disease

scientific article published on 04 March 2019

KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability

artículo científico publicado en 2016

KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome

artículo científico publicado en 2015

Molecular yield of targeted sequencing for Glanzmann thrombasthenia patients

scientific article published on 14 February 2019

New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism

artículo científico publicado en 2012

Novel CARMIL2 Mutations in Patients with Variable Clinical Dermatitis, Infections, and Combined Immunodeficiency

artículo científico publicado en 2018

Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract

artículo científico publicado en 2016

Prioritizing Genetic Testing in Patients With Kallmann Syndrome Using Clinical Phenotypes ⬇️

artículo científico publicado el 26 de marzo de 2013

Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism

artículo científico publicado en 2017

Specific and complete human genome amplification with improved yield achieved by phi29 DNA polymerase and a novel primer at elevated temperature

artículo científico publicado en 2009

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

artículo científico publicado en 2017

Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases.

artículo científico publicado en 2016

Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy

artículo científico publicado en 2018

Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families

artículo científico publicado en 2017

Lista de obras de

A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report

A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies

A novel deletion of the MEN1 gene in a large family of multiple endocrine neoplasia type 1 (MEN1) with aggressive phenotype

A null mutation in TNIK defines a novel locus for intellectual disability

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

Allelic heterogeneity in inbred populations: the Saudi experience with Alström syndrome as an illustrative example

Association of a mutation in LACC1 with a monogenic form of systemic juvenile idiopathic arthritis

Autozygome maps dispensable DNA and reveals potential selective bias against nullizygosity

Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation

Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development.

CORRIGENDUM: Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation

Characterizing the morbid genome of ciliopathies. ⬇️

Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome

Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden

Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families

Congenital disorder of glycosylation IIa: The trouble with diagnosing a dysmorphic inborn error of metabolism

Correction to: Expanding the genetic heterogeneity of intellectual disability.

Correction to: Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism

De novo truncating variants in WHSC1 recapitulate the Wolf-Hirschhorn (4p16.3 microdeletion) syndrome phenotype

Established and candidate transthyretin amyloidosis variants identified in the Saudi population by data mining

Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B Gene

Exome-based case-control association study using extreme phenotype design reveals novel candidates with protective effect in diabetic retinopathy

Expanding phenotypic and allelic heterogeneity of tricho-hepato-enteric syndrome

Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies

Expanding the genetic heterogeneity of intellectual disability

Expanding the phenome and variome of skeletal dysplasia.

Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.

Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities

Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel

High Incidence of Severe Combined Immunodeficiency Disease in Saudi Arabia Detected Through Combined T Cell Receptor Excision Circle and Next Generation Sequencing of Newborn Dried Blood Spots

Identification of a novel MKS locus defined by TMEM107 mutation

Identification of a novel genetic locus underlying tremor and dystonia.

Integrated Analysis of Whole Exome Sequencing and Copy Number Evaluation in Parkinson's Disease

KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability

KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome

Molecular yield of targeted sequencing for Glanzmann thrombasthenia patients

New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism

Novel CARMIL2 Mutations in Patients with Variable Clinical Dermatitis, Infections, and Combined Immunodeficiency

Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract

Prioritizing Genetic Testing in Patients With Kallmann Syndrome Using Clinical Phenotypes ⬇️

Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism

Specific and complete human genome amplification with improved yield achieved by phi29 DNA polymerase and a novel primer at elevated temperature

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases.

Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy

Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families