(Q35078373)

6 August 2017

title

Molecular findings among patients referred for clinical whole-exome sequencing (English)

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6 August 2017

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Eric Boerwinkle

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James R. Lupski

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object named as

James R Lupski

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6 August 2017

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Richard A Gibbs

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6 August 2017

2

Donna M Muzny

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6 August 2017

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Christine M Eng

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6 August 2017

1

Yaping Yang

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6 August 2017

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William J Craigen

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6 August 2017

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Ankita Patel

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Wendy Alcaraz

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6 August 2017

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Zhiyv Niu

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6 August 2017

13

Theodore Chiang

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6 August 2017

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Joke Beuten

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6 August 2017

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Mir Reza Bekheirnia

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6 August 2017

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Sharon E Plon

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6 August 2017

Fan Xia

3

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6 August 2017

Richard Person

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6 August 2017

Yan Ding

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6 August 2017

Patricia Ward

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6 August 2017

Alicia Braxton

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6 August 2017

Min Wang

9

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6 August 2017

Christian Buhay

10

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6 August 2017

Narayanan Veeraraghavan

11

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6 August 2017

Alicia Hawes

12

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6 August 2017

Magalie Leduc

14

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6 August 2017

Jing Zhang

16

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6 August 2017

Weimin He

17

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6 August 2017

Jennifer Scull

18

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6 August 2017

Alecia Willis

19

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6 August 2017

Megan Landsverk

20

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6 August 2017

Asbjorg Stray-Pedersen

23

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6 August 2017

Pengfei Liu

24

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6 August 2017

Shu Wen

25

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6 August 2017

Hong Cui

27

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6 August 2017

Magdalena Walkiewicz

28

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6 August 2017

Jeffrey Reid

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6 August 2017

Matthew Bainbridge

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6 August 2017

Arthur L Beaudet

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6 August 2017

language of work or name

English

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publication date

1 November 2014

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The Journal of the American Medical Association

6 August 2017

published in

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6 August 2017

volume

312

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6 August 2017

issue

18

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6 August 2017

page(s)

1870-1879

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Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders

6 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=4326249

Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326249

Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326249

Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326249

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=4326249

Actionable, pathogenic incidental findings in 1,000 participants' exomes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326249

Return of secondary genomic findings vs patient autonomy: implications for medical care

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326249

Mandatory extended searches in all genome sequencing: "incidental findings," patient autonomy, and shared decision making

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326249

Reporting genomic sequencing results to ordering clinicians: incidental, but not exceptional

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326249

Genetics. Genome mosaicism--one human, multiple genomes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326249

ACMG recommendations for reporting of incidental findings in clinical exome and genome 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=4326249

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326249

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326249

A systematic survey of loss-of-function variants in human protein-coding genes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326249

Taxonomizing, sizing, and overcoming the incidentalome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326249

Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326249

A mosaic activating mutation in AKT1 associated with the Proteus syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326249

Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326249

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=4326249

Carrier screening in individuals of Ashkenazi Jewish descent

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326249

American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326249

Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326249

American College of Medical Genetics statement of diagnostic testing for uniparental disomy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326249

Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex 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=4326249

Diagnostic exome sequencing in persons with 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=4326249

The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326249

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326249

Practice parameter: evaluation of the child with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and The Practice Committee of the Child Neurology Society.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326249

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

27 September 2018

1 reference

12 December 2020

Points to consider in the clinical application of genomic sequencing

1 reference

12 December 2020

MLL2 and KDM6A mutations in patients with Kabuki syndrome

1 reference

12 December 2020

Genetic Diagnosis through Whole-Exome Sequencing

1 reference

12 December 2020

Identifiers

DOI

10.1001/JAMA.2014.14601

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6 August 2017

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6 August 2017

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