Clinical exome sequencing: results from 2819 samples reflecting 1000 families. - Wikidata - awgldk - TriplyDB

Clinical exome sequencing: results from 2819 samples reflecting 1000 families.

Clinical exome sequencing: results from 2819 samples reflecting 1000 families.

http://www.wikidata.org/entity/Q37599237

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PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities.Mutations of PTPN23 in developmental and epileptic encephalopathy.Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing.Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability.The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study.Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities.Analysis of Parent-of-Origin Effects on the X Chromosome in Asian and European Orofacial Cleft Triads Identifies Associations with DMD, FGF13, EGFL6, and Additional Loci at Xp22.2.SNX14 mutations affect endoplasmic reticulum associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20.Complex Landscape of Germline Variants in Brazilian Patients With Hereditary and Early Onset Breast Cancer.Mutations in SCN3A cause early infantile epileptic encephalopathy PubCaseFinder: A Case-Report-Based, Phenotype-Driven Differential-Diagnosis System for Rare Diseases Long-read sequencing identified a causal structural variant in an exome-negative case and enabled preimplantation genetic diagnosis Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs Exome sequencing of an adolescent with nonalcoholic fatty liver disease identifies a clinically actionable case of Wilson disease

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P2860

Clinical exome sequencing: results from 2819 samples reflecting 1000 families.

http://www.wikidata.org/entity/Q37599237

description

2016 nî lūn-bûn

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2016年の論文

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

@zh-sg

2016年學術文章

@yue

2016年學術文章

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2016年學術文章

@zh-hant

name

Clinical exome sequencing: results from 2819 samples reflecting 1000 families.

@en

Clinical exome sequencing: results from 2819 samples reflecting 1000 families.

@nl

type

label

Clinical exome sequencing: results from 2819 samples reflecting 1000 families.

@en

Clinical exome sequencing: results from 2819 samples reflecting 1000 families.

@nl

prefLabel

Clinical exome sequencing: results from 2819 samples reflecting 1000 families.

@en

Clinical exome sequencing: results from 2819 samples reflecting 1000 families.

@nl

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European Journal of Human Genetics

P1476

Clinical exome sequencing: results from 2819 samples reflecting 1000 families

@en

P2093

Ahmed Al-Rumayyan

http://www.w3.org/2001/XMLSchema#string

Aida M Bertoli-Avella

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Ali Alothaim

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Amal Alhashem

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Anett Marais

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Arndt Rolfs

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Caterina Baldi

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Daniel Trujillano

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Julia Köster

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Karen Wessel

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P2860

Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing

XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

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

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

Integrative genomics viewer

Saturation of the human phenome

Whole exome sequencing of distant relatives in multiplex families implicates rare variants in candidate genes for oral clefts

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

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

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176-182

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scholarly article

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10.1038/EJHG.2016.146

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2

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25

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Mohammed Al Balwi

Rami Abou Jamra

Jose M Garcia-Aznar

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2016-11-16T00:00:00Z

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27848944

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5255946

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