(Q41441536)

30 September 2017

Practical considerations in the clinical application of whole-exome sequencing (English)

1 reference

30 September 2017

V Shashi

1

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30 September 2017

A McConkie-Rosell

2

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30 September 2017

K Schoch

3

1 reference

30 September 2017

V Kasturi

4

1 reference

30 September 2017

C Rehder

5

1 reference

30 September 2017

Y H Jiang

6

1 reference

30 September 2017

D B Goldstein

7

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30 September 2017

M T McDonald

8

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30 September 2017

12 February 2015

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30 September 2017

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30 September 2017

89

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30 September 2017

2

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30 September 2017

173-181

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

30 September 2017

1 reference

Clinical application of exome sequencing in undiagnosed genetic conditions

21 January 2018

1 reference

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

21 January 2018

1 reference

The usefulness of whole-exome sequencing in routine clinical practice.

21 January 2018

1 reference

Clinical exome sequencing for genetic identification of rare Mendelian disorders

21 January 2018

1 reference

Exome sequencing identifies the cause of a mendelian disorder

21 January 2018

1 reference

A de novo paradigm for mental retardation.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

21 January 2018

1 reference

Unlocking Mendelian disease using exome sequencing

21 January 2018

1 reference

Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta

21 January 2018

1 reference

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

21 January 2018

1 reference

Molecular findings among patients referred for clinical whole-exome sequencing

21 January 2018

1 reference

ACMG clinical laboratory standards for next-generation sequencing

21 January 2018

1 reference

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

21 January 2018

1 reference

Genetic counselors' views and experiences with the clinical integration of genome sequencing

21 January 2018

1 reference

Diagnostic clinical genome and exome sequencing

21 January 2018

1 reference

Diagnostic exome sequencing in persons with severe intellectual disability

21 January 2018

1 reference

De novo mutations in epileptic encephalopathies

21 January 2018

1 reference

XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing

21 January 2018

1 reference

Views of primary care providers regarding the return of genome sequencing incidental findings.

21 January 2018

1 reference

Whole-genome sequencing and the clinician: a tale of two cities

21 January 2018

1 reference

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CGE.12569

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30 September 2017

1 reference