(Q33736038)

29 July 2017

title

Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine (English)

1 reference

Bhooma Thiruvahindrapuram

29 July 2017

main subject

whole genome sequencing

1 reference

based on heuristic

inferred from title

author

Bhooma Thiruvahindrapuram

1 reference

29 July 2017

Stephen W Scherer

1 reference

Saadet Mercimek-Mahmutoglu

29 July 2017

Andrea Shugar

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Babak Alipanahi

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Saadet Mercimek-Mahmutoglu

1 reference

29 July 2017

Michael Brudno

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29 July 2017

Ryan K C Yuen

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29 July 2017

Daniele Merico

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29 July 2017

Rosanna Weksberg

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29 July 2017

Rebekah Jobling

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29 July 2017

Sarah Bowdin

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29 July 2017

Nasim Monfared

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29 July 2017

Thomas Nalpathamkalam

Thomas Nalpathamkalam

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29 July 2017

Giovanna Pellecchia

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29 July 2017

Michael J Szego

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29 July 2017

Robin Z Hayeems

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29 July 2017

Brendan Frey

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29 July 2017

Cheryl Cytrynbaum

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29 July 2017

Stacy Hewson

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29 July 2017

Peter Kannu

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29 July 2017

Jonathan Kronick

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29 July 2017

Roberto Mendoza-Londono

Roberto Mendoza-Londono

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29 July 2017

Maian Roifman

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29 July 2017

Cheryl Shuman

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29 July 2017

Komudi Siriwardena

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29 July 2017

Grace Yoon

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29 July 2017

Chris Carew

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29 July 2017

M Stephen Meyn

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29 July 2017

Christian R Marshall

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29 July 2017

author name string

Dimitri J Stavropoulos

1 reference

29 July 2017

Randi Zlotnik Shaul

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29 July 2017

Marta Girdea

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29 July 2017

Sohnee Ahmed

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29 July 2017

Riyana Babul-Hirji

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29 July 2017

Ramses Badilla Porras

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29 July 2017

Melissa T Carter

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29 July 2017

Lauren Chad

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29 July 2017

Ayeshah Chaudhry

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29 July 2017

David Chitayat

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29 July 2017

Soghra Jougheh Doust

1 reference

29 July 2017

Lucie Dupuis

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29 July 2017

Resham Ejaz

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29 July 2017

Leona Fishman

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29 July 2017

Andrea Guerin

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29 July 2017

Bita Hashemi

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29 July 2017

Mayada Helal

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29 July 2017

Michal Inbar-Feigenberg

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29 July 2017

Natalya Karp

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29 July 2017

Raymond Kim

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29 July 2017

Eriskay Liston

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29 July 2017

Heather MacDonald

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29 July 2017

Enas Nasr

1 reference

29 July 2017

Graeme Nimmo

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29 July 2017

Nicole Parkinson

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29 July 2017

Nada Quercia

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29 July 2017

Julian Raiman

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29 July 2017

Andreas Schulze

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29 July 2017

Pierre Sinajon

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29 July 2017

Raith Erickson

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29 July 2017

Richard A Leach

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29 July 2017

Robert Klein

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29 July 2017

Peter N Ray

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29 July 2017

Ronald D Cohn

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29 July 2017

publication date

1 January 2016

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29 July 2017

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29 July 2017

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Creative Commons Attribution 4.0 International

29 July 2017

start time

13 January 2016

1 reference

April 2022 Public Data File from Crossref

copyrighted

0 references

cites work

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14 July 2018

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14 July 2018

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14 July 2018

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14 July 2018

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14 July 2018

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14 July 2018

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14 July 2018

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Molecular findings among patients referred for clinical whole-exome sequencing

14 July 2018

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Global, regional, and national causes of child mortality in 2000-13, with projections to inform post-2015 priorities: an updated systematic analysis

14 July 2018

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Genome sequencing identifies major causes of severe intellectual disability

14 July 2018

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Evolutionarily dynamic alternative splicing of GPR56 regulates regional cerebral cortical patterning

14 July 2018

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A general framework for estimating the relative pathogenicity of human genetic variants

14 July 2018

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14 July 2018

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Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis.

14 July 2018

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14 July 2018

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14 July 2018

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The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

14 July 2018

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Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing

14 July 2018

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

14 July 2018

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14 July 2018

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14 July 2018

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Evolution and functional impact of rare coding variation from deep sequencing of human exomes

14 July 2018

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Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis

14 July 2018

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14 July 2018

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14 July 2018

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14 July 2018

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14 July 2018

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14 July 2018

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14 July 2018

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14 July 2018

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

14 July 2018

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14 July 2018

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14 July 2018

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14 July 2018

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14 July 2018

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14 July 2018

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The Mammalian Phenotype Ontology as a tool for annotating, analyzing and comparing phenotypic information

14 July 2018

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The burden of genetic disease on inpatient care in a children's hospital

14 July 2018

1 reference

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14 July 2018

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14 July 2018

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Detection of clinically relevant copy number variants with whole-exome sequencing.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNPJGENMED.2015.12

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNPJGENMED.2015.12

Whole-genome sequencing of quartet families with autism spectrum disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNPJGENMED.2015.12

Computational techniques for human genome resequencing using mated gapped reads

21 January 2018

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The Impact of Birth Defects and Genetic Diseases

21 January 2018

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10.1038/NPJGENMED.2015.12

21 January 2018

Identifiers

DOI

1 reference

Dimensions Publication ID

29 July 2017

0 references

1 reference

29 July 2017

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