(Q34820081)

4 August 2017

title

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

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4 August 2017

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whole genome sequencing

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Stephen Francis Kingsmore

23

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Elliott H. Margulies

17

object named as

Elliott Harrison Margulies

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4 August 2017

Carol Jean Saunders

1

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4 August 2017

Neil Andrew Miller

2

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4 August 2017

Sarah Elizabeth Soden

3

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4 August 2017

Darrell Lee Dinwiddie

4

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4 August 2017

Aaron Noll

5

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4 August 2017

Noor Abu Alnadi

6

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4 August 2017

Nevene Andraws

7

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4 August 2017

Melanie LeAnn Patterson

8

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4 August 2017

Lisa Ann Krivohlavek

9

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4 August 2017

Joel Fellis

10

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4 August 2017

Sean Humphray

11

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4 August 2017

Peter Saffrey

12

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4 August 2017

Zoya Kingsbury

13

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4 August 2017

Jacqueline Claire Weir

14

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4 August 2017

Jason Betley

15

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4 August 2017

Russell James Grocock

16

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4 August 2017

Emily Gwendolyn Farrow

18

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4 August 2017

Michael Artman

19

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4 August 2017

Nicole Pauline Safina

20

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4 August 2017

Joshua Erin Petrikin

21

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4 August 2017

Kevin Peter Hall

22

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4 August 2017

language of work or name

English

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publication date

1 October 2012

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Science Translational Medicine

4 August 2017

published in

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4 August 2017

volume

4

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4 August 2017

issue

154

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4 August 2017

page(s)

154ra135

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Treatment for mitochondrial disorders

4 August 2017

cites work

1 reference

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8 July 2018

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Human gene copy number spectra analysis in congenital heart malformations

8 July 2018

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Genetic mapping and exome sequencing identify variants associated with five novel diseases

8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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

8 July 2018

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8 July 2018

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8 July 2018

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Racial and ethnic disparities in infant mortality

8 July 2018

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8 July 2018

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Whole-genome sequencing for optimized patient management

8 July 2018

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Deep sequencing of patient genomes for disease diagnosis: when will it become routine?

8 July 2018

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

8 July 2018

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Efficient study design for next generation sequencing

8 July 2018

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Charting a course for genomic medicine from base pairs to bedside

8 July 2018

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

8 July 2018

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8 July 2018

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Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

8 July 2018

1 reference

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The $1,000 genome, the $100,000 analysis?

8 July 2018

1 reference

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A map of human genome variation from population-scale 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=4283791

Zebrafish Nkd1 promotes Dvl degradation and is required for left-right patterning

8 July 2018

1 reference

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

8 July 2018

1 reference

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Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene

8 July 2018

1 reference

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

8 July 2018

1 reference

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Genome, epigenome and RNA sequences of monozygotic twins discordant for multiple sclerosis

8 July 2018

1 reference

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Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

8 July 2018

1 reference

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Enhancing the quality and efficiency of newborn screening programs through the use of health information technology

8 July 2018

1 reference

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Fast and SNP-tolerant detection of complex variants and splicing in short reads

8 July 2018

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

8 July 2018

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De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot

8 July 2018

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Foxj1 transcription factors are master regulators of the motile ciliogenic program

8 July 2018

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Deciphering the function of canonical Wnt signals in development and disease: conditional loss- and gain-of-function mutations of beta-catenin in mice

8 July 2018

1 reference

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A mitochondrial protein compendium elucidates complex I disease biology

8 July 2018

1 reference

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The roles of Groucho/Tle in left-right asymmetry and Kupffer's vesicle organogenesis.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4283791

NICHD research initiative in newborn screening

8 July 2018

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The incidentalome: a threat to genomic medicine

8 July 2018

1 reference

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Newborn screening: toward a uniform screening panel and system

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4283791

Wnt3a links left-right determination with segmentation and anteroposterior axis elongation

8 July 2018

1 reference

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Essential role of BCL9-2 in the switch between beta-catenin's adhesive and transcriptional functions

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4283791

You Wnt some, you lose some: oncogenes in the Wnt signaling pathway

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4283791

Wnt/wingless signaling requires BCL9/legless-mediated recruitment of pygopus to the nuclear beta-catenin-TCF complex

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4283791

Statistical features of human exons and their flanking regions

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4283791

Base-calling of automated sequencer traces using phred. II. Error probabilities

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4283791

Molecular cloning of translocation t(1;14)(q21;q32) defines a novel gene (BCL9) at chromosome 1q21

8 July 2018

1 reference

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Wnt signaling: a common theme in animal development

8 July 2018

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Constitutive transcriptional activation by a beta-catenin-Tcf complex in APC-/- colon carcinoma

8 July 2018

1 reference

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Functional interaction of beta-catenin with the transcription factor LEF-1

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4283791

From cadherins to catenins: cytoplasmic protein interactions and regulation of cell adhesion

8 July 2018

1 reference

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Costs and end-of-life care in the NICU: lessons for the MICU?

8 July 2018

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Base-calling of automated sequencer traces using phred. I. Accuracy assessment

21 January 2018

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Germline mosaicism in keratitis-ichthyosis-deafness syndrome: pre-natal diagnosis in a familial lethal form.

21 January 2018

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β-Catenin 1 and β-catenin 2 play similar and distinct roles in left-right asymmetric development of zebrafish embryos.

21 January 2018

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https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3004041

Distinct functions of Wnt/beta-catenin signaling in KV development and cardiac asymmetry

21 January 2018

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https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3004041

Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease

21 January 2018

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https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3004041

Points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents. American Society of Human Genetics Board of Directors, American College of Medical Genetics Board of Directors

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4283791

Contribution of birth defects to infant mortality among racial/ethnic minority groups, United States, 1983

9 December 2018

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12 December 2020

Connexin disorders of the skin

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12 December 2020

Proof of "disease causing" mutation

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12 December 2020

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

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12 December 2020

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

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Inborn errors of metabolism in a neonatology unit: impact and long-term results

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10.1126/SCITRANSLMED.3004041

Identifiers

DOI

1 reference

4 August 2017

1 reference

4 August 2017

1 reference