(Q41927928)

14 October 2017

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

1 reference

14 October 2017

12

Fowzan S Alkuraya

1 reference

14 October 2017

13

Tawfeg Ben-Omran

1 reference

14 October 2017

Tarunashree Yavarna

1

1 reference

14 October 2017

Nader Al-Dewik

2

1 reference

14 October 2017

Mariam Al-Mureikhi

3

1 reference

14 October 2017

Rehab Ali

4

1 reference

14 October 2017

Fatma Al-Mesaifri

5

1 reference

14 October 2017

Laila Mahmoud

6

1 reference

14 October 2017

Noora Shahbeck

7

1 reference

14 October 2017

Shenela Lakhani

8

1 reference

14 October 2017

Mariam AlMulla

9

1 reference

14 October 2017

Zafar Nawaz

10

1 reference

14 October 2017

Patrik Vitazka

11

1 reference

14 October 2017

16 June 2015

1 reference

14 October 2017

1 reference

14 October 2017

134

1 reference

14 October 2017

9

1 reference

14 October 2017

967-980

1 reference

https://scigraph.springernature.com/pub.10.1007/s00439-015-1575-0

14 October 2017

0 references

cites work

Mutations in NSUN2 cause autosomal-recessive intellectual disability.

1 reference

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

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

21 January 2018

1 reference

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

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

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Whole exome and whole genome sequencing

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

A candidate model for Angelman syndrome in the mouse.

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

A rising titan: TTN review and mutation update

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Genome sequencing identifies major causes of severe intellectual disability

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

1 reference

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

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

21 January 2018

1 reference

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

Truncations of titin causing dilated cardiomyopathy.

21 January 2018

1 reference

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

De Novo Gene Disruptions in Children on the Autistic Spectrum

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome

21 January 2018

1 reference

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

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

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Clinical exome sequencing for genetic identification of rare Mendelian disorders

21 January 2018

1 reference

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

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

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Disease-targeted sequencing: a cornerstone in the clinic

21 January 2018

1 reference

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

1 reference

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

1 reference

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

The Human Gene Mutation Database: 2008 update

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

1 reference

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

1 reference

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

Massively parallel sequencing: the next big thing in genetic medicine

21 January 2018

1 reference

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

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

21 January 2018

1 reference

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

Molecular findings among patients referred for clinical whole-exome sequencing

21 January 2018

1 reference

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

Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia

21 January 2018

1 reference

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

1 reference

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

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

21 January 2018

1 reference

12 December 2020

Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews

1 reference

12 December 2020

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

1 reference

12 December 2020

MG-160. A novel sialoglycoprotein of the medial cisternae of the Golgi apparatus [published eeratum appears in J Biol Chem 1989 Mar 5;264(7):4264]

1 reference

12 December 2020

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

1 reference

12 December 2020

Novel CDNF/MANF family of neurotrophic factors

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1007/S00439-015-1575-0

Identifiers

DOI

1 reference

Dimensions Publication ID

14 October 2017

0 references

1 reference