Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing. (Q48267267)

http://europepmc.org/abstract/MED/28170084

10 February 2018

meta-analysis

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title

Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing. (English)

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http://europepmc.org/abstract/MED/28170084

10 February 2018

author

Tuğçe Bulakbaşı Balcı

1

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Hugh J. McMillan

16

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Gabriella A Horvath

8

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Eric Bareke

14

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Jeremy Schwartzentruber

22

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Kym M Boycott

28

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author name string

T Hartley

2

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Y Xi

3

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D A Dyment

4

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C L Beaulieu

5

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F P Bernier

6

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L Dupuis

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R Mendoza-Londono

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C Prasad

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J Richer

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X-R Yang

12

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C M Armour

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B A Fernandez

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R E Lamont

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J Majewski

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J S Parboosingh

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A N Prasad

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C A Rupar

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A C Smith

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M Tétreault

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FORGE Canada Consortium

25

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Care4Rare Canada Consortium

26

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A M Innes

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publication date

7 February 2017

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http://europepmc.org/abstract/MED/28170084

10 February 2018

published in

Clinical Genetics

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volume

92

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11 June 2020

page(s)

281-289

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issue

3

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Rare-disease genetics in the era of next-generation sequencing: discovery to translation

11 June 2020

cites work

1 reference

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

21 January 2018

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The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

21 January 2018

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Molecular findings among patients referred for clinical whole-exome sequencing

21 January 2018

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Molecular diagnostic experience of whole-exome sequencing in adult patients

21 January 2018

1 reference

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

21 January 2018

1 reference

High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders

21 January 2018

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Clinical application of whole-exome sequencing across clinical indications

21 January 2018

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Clinical exome sequencing for genetic identification of rare Mendelian disorders

21 January 2018

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Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

21 January 2018

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Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care

21 January 2018

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Diagnostic clinical genome and exome sequencing

21 January 2018

1 reference

Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing

21 January 2018

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Against all odds: blended phenotypes of three single-gene defects

21 January 2018

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A Case of HDR Syndrome and Ichthyosis: Dual Diagnosis by Whole-Genome Sequencing of Novel Mutations in GATA3 and STS Genes

21 January 2018

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Exome Sequencing and the Management of Neurometabolic Disorders.

21 January 2018

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Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype

21 January 2018

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Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events.

21 January 2018

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Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

21 January 2018

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Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study.

21 January 2018

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Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis

21 January 2018

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Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma

21 January 2018

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Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis

21 January 2018

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Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter

21 January 2018

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Autosomal dominant congenital non-progressive ataxia overlaps with the SCA15 locus

21 January 2018

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GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction

21 January 2018

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Analysis of genetic inheritance in a family quartet by whole-genome sequencing

21 January 2018

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Spastic paraplegia associated with brachydactyly and cone shaped epiphyses

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Next-generation sequencing demands next-generation phenotyping

21 January 2018

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21 January 2018

Identifiers

DOI

10.1111/CGE.12987

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28170084%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

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