High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders (Q41927928)

14 October 2017

title

High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders (English)

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14 October 2017

12

Fowzan S Alkuraya

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14 October 2017

13

Tawfeg Ben-Omran

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14 October 2017

Tarunashree Yavarna

1

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14 October 2017

Nader Al-Dewik

2

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14 October 2017

Mariam Al-Mureikhi

3

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14 October 2017

Rehab Ali

4

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14 October 2017

Fatma Al-Mesaifri

5

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14 October 2017

Laila Mahmoud

6

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14 October 2017

Noora Shahbeck

7

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14 October 2017

Shenela Lakhani

8

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14 October 2017

Mariam AlMulla

9

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14 October 2017

Zafar Nawaz

10

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14 October 2017

Patrik Vitazka

11

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14 October 2017

publication date

16 June 2015

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14 October 2017

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14 October 2017

volume

134

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14 October 2017

issue

9

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14 October 2017

page(s)

967-980

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Mutations in NSUN2 cause autosomal-recessive intellectual disability.

14 October 2017

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Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia

21 January 2018

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Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population.

21 January 2018

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

21 January 2018

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Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.

21 January 2018

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DIA1R is an X-linked gene related to Deleted In Autism-1.

21 January 2018

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Characterization of the deleted in autism 1 protein family: implications for studying cognitive disorders

21 January 2018

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c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia

21 January 2018

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FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project

21 January 2018

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The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3

21 January 2018

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Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene

21 January 2018

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Whole exome and whole genome sequencing

21 January 2018

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Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations

21 January 2018

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Molecular profiling of synaptic vesicle docking sites reveals novel proteins but few differences between glutamatergic and GABAergic synapses

21 January 2018

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A candidate model for Angelman syndrome in the mouse

21 January 2018

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Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism

21 January 2018

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Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia

21 January 2018

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A rising titan: TTN review and mutation update

21 January 2018

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Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes

21 January 2018

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Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome

21 January 2018

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Heavy and light roles: myosin in the morphogenesis of the heart

21 January 2018

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Apneic crises: a clue for MECP2 testing in severe neonatal hypotonia-respiratory failure

21 January 2018

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Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain

21 January 2018

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Genome sequencing identifies major causes of severe intellectual disability

21 January 2018

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ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

21 January 2018

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A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype

21 January 2018

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Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network

21 January 2018

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Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability

21 January 2018

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X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face

21 January 2018

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Mutation of HERC2 causes developmental delay with Angelman-like features.

21 January 2018

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Truncations of titin causing dilated cardiomyopathy.

21 January 2018

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De Novo Gene Disruptions in Children on the Autistic Spectrum

21 January 2018

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Practices and policies of clinical exome sequencing providers: analysis and implications.

21 January 2018

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Stüve-Wiedemann syndrome: long-term follow-up and genetic heterogeneity.

21 January 2018

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Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome

21 January 2018

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High-density oligonucleotide-based resequencing assay for mutations causing syndromic and non-syndromic forms of thoracic aortic aneurysms and dissections.

21 January 2018

1 reference

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The kinase domain of titin controls muscle gene expression and protein turnover

21 January 2018

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Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-015-1575-0

Clinical exome sequencing for genetic identification of rare Mendelian disorders

21 January 2018

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Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation

21 January 2018

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neurogenin1 is essential for the determination of neuronal precursors for proximal cranial sensory ganglia

21 January 2018

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Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome

21 January 2018

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Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

21 January 2018

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Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia

21 January 2018

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Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics

21 January 2018

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Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

21 January 2018

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Deep sequencing reveals 50 novel genes for recessive cognitive disorders

21 January 2018

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Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia

21 January 2018

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Activation of neuronal gene expression by the JMJD3 demethylase is required for postnatal and adult brain neurogenesis.

21 January 2018

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First case of dizygous twins with X-linked alpha-thalassemia/mental retardation syndrome showing wide clinical variability.

21 January 2018

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Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia

21 January 2018

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A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder

21 January 2018

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Disease-targeted sequencing: a cornerstone in the clinic

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-015-1575-0

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1575-0

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1575-0

A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-015-1575-0

Mitochondrial fatty acid oxidation disorders: clinical presentation of long-chain fatty acid oxidation defects before and after newborn screening

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1575-0

Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-015-1575-0

The Human Gene Mutation Database: 2008 update

21 January 2018

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Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-015-1575-0

Collagen XIV is important for growth and structural integrity of the myocardium

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-015-1575-0

Clinical characterisation of a family with retinal dystrophy caused by mutation in the Mertk gene

21 January 2018

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Massively parallel sequencing: the next big thing in genetic medicine

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-015-1575-0

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-015-1575-0

Molecular findings among patients referred for clinical whole-exome sequencing

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-015-1575-0

Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-015-1575-0

Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome

21 January 2018

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Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing

21 January 2018

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12 December 2020

Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews

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12 December 2020

Clinical, metabolic, and genetic aspects of cytochrome C oxidase deficiency in Saguenay-Lac-Saint-Jean.

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12 December 2020

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12 December 2020

Accelerated inactivation in a mutant Na(+) channel associated with idiopathic ventricular fibrillation

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12 December 2020

Novel CDNF/MANF family of neurotrophic factors

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12 December 2020

Familial thrombocytosis caused by the novel germ-line mutation p.Pro106Leu in the MPL gene

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12 December 2020

10.1007/S00439-015-1575-0

Identifiers

DOI

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Dimensions Publication ID

14 October 2017

1030373920

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