(Q34866575)

5 August 2017

title

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders (English)

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neurodevelopmental disorder

5 August 2017

main subject

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Laurel K Willig

3

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Stephen F Kingsmore

object named as

Stephen F Kingsmore

27

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author name string

Sarah E Soden

1

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5 August 2017

Carol J Saunders

2

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5 August 2017

Emily G Farrow

4

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5 August 2017

Laurie D Smith

5

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5 August 2017

Josh E Petrikin

6

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5 August 2017

Jean-Baptiste LePichon

7

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5 August 2017

Neil A Miller

8

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5 August 2017

Isabelle Thiffault

9

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5 August 2017

Darrell L Dinwiddie

10

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5 August 2017

Greyson Twist

11

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5 August 2017

Aaron Noll

12

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5 August 2017

Bryce A Heese

13

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5 August 2017

Lee Zellmer

14

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5 August 2017

Andrea M Atherton

15

1 reference

5 August 2017

Ahmed T Abdelmoity

16

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5 August 2017

Nicole Safina

17

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5 August 2017

Sarah S Nyp

18

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5 August 2017

Britton Zuccarelli

19

1 reference

5 August 2017

Ingrid A Larson

20

1 reference

5 August 2017

Ann Modrcin

21

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5 August 2017

Suzanne Herd

22

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5 August 2017

Mitchell Creed

23

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5 August 2017

Zhaohui Ye

24

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5 August 2017

Xuan Yuan

25

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5 August 2017

Robert A Brodsky

26

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5 August 2017

language of work or name

English

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publication date

1 December 2014

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Science Translational Medicine

5 August 2017

published in

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5 August 2017

volume

6

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5 August 2017

issue

265

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5 August 2017

page(s)

265ra168

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De novo KCNB1 mutations in epileptic encephalopathy

5 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286868

Variant detection sensitivity and biases in whole genome and exome sequencing

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286868

Genome sequencing identifies major causes of severe intellectual disability

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286868

Analytical validation of whole exome and whole genome sequencing for clinical applications

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286868

Early frameshift mutation in PIGA identified in a large XLID family without neonatal lethality

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286868

Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286868

Genetics of recessive cognitive disorders

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286868

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286868

Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286868

Vitamin B6-responsive epilepsy due to inherited GPI deficiency

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286868

De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286868

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286868

Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286868

Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286868

Genetic causes of developmental disorders

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286868

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286868

Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286868

Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trial.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286868

Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286868

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286868

Exome sequencing can improve diagnosis and alter patient management

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286868

Clinical application of exome sequencing in undiagnosed genetic conditions

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286868

Ontological phenotype standards for neurogenetics

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286868

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286868

Deep phenotyping for precision medicine

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286868

Fragile X and X-linked intellectual disability: four decades of discovery

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286868

The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286868

The UCSC Genome Browser database: extensions and updates 2011.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286868

Adopting orphans: comprehensive genetic testing of Mendelian diseases of childhood by next-generation sequencing

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286868

Primary and secondary CoQ(10) deficiencies in humans

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286868

A Markov model to analyze cost-effectiveness of screening for severe combined immunodeficiency (SCID).

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286868

A framework for variation discovery and genotyping using next-generation DNA sequencing data

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286868

Charting a course for genomic medicine from base pairs to bedside

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286868

Carrier testing for severe childhood recessive diseases by next-generation sequencing

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286868

Genetics of Early Onset Cognitive Impairment

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286868

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286868

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286868

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286868

Management of High-Throughput DNA Sequencing Projects: Alpheus

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286868

The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286868

Clinical diagnostics in human genetics with semantic similarity searches in ontologies

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286868

Natural selection on genes that underlie human disease susceptibility

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286868

Heterogeneity in residual function of MeCP2 carrying missense mutations in the methyl CpG binding domain

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286868

Improved detection and characterization of paroxysmal nocturnal hemoglobinuria using fluorescent aerolysin

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286868

The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders

8 July 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3010076

Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3010076

Array CGH analysis of a cohort of Russian patients with intellectual disability.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3010076

Diagnostic exome sequencing in persons with severe intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3010076

Clinical whole exome sequencing in child neurology practice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3010076

Cost effectiveness of direct-acting antiviral therapy for treatment-naive patients with chronic HCV genotype 1 infection in the veterans health administration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3010076

PIGA mutations cause early-onset epileptic encephalopathies and distinctive features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3010076

Optimal enzymes for amplifying sequencing libraries.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4286868

Combined D2-/L2-hydroxyglutaric aciduria (SLC25A1 deficiency): clinical course and effects of citrate treatment

26 October 2018

1 reference

12 December 2020

Technical standards and guidelines: molecular genetic testing for ultra-rare disorders

1 reference

12 December 2020

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

1 reference

12 December 2020

How infants die in the neonatal intensive care unit: trends from 1999 through 2008

1 reference

12 December 2020

10.1126/SCITRANSLMED.3010076

Identifiers

DOI

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5 August 2017

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5 August 2017

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