Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development (Q33738292)

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26 January 2020

title

Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development (English)

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26 January 2020

3

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26 January 2020

author name string

V A Arboleda

1

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26 January 2020

H Lee

2

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26 January 2020

E C Délot

4

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26 January 2020

D E Sandberg

5

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26 January 2020

W W Grody

6

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26 January 2020

S F Nelson

7

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26 January 2020

E Vilain

8

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26 January 2020

publication date

1 May 2012

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26 January 2020

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26 January 2020

volume

83

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26 January 2020

issue

1

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26 January 2020

page(s)

35-43

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Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV

26 January 2020

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Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis

21 June 2018

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Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing.

21 June 2018

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Identification of de novo copy number variants associated with human disorders of sexual development

21 June 2018

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Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

21 June 2018

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Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing

21 June 2018

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A new era in clinical genetic testing for hypertrophic cardiomyopathy

21 June 2018

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Next generation sequencing in research and diagnostics of ocular birth defects

21 June 2018

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A method and server for predicting damaging missense mutations

21 June 2018

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Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

21 June 2018

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The Sequence Alignment/Map format and SAMtools

21 June 2018

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Genetics of congenital adrenal hyperplasia

21 June 2018

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Clinical evaluation study of the German network of disorders of sex development (DSD)/intersexuality: study design, description of the study population, and data quality

21 June 2018

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Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

21 June 2018

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Long-term outcome of disorders of sex development

21 June 2018

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Consensus statement on management of intersex disorders.

21 June 2018

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Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer

21 June 2018

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Interpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR).

21 June 2018

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Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2

21 June 2018

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Predictive genetic testing: from basic research to clinical practice

21 June 2018

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21 June 2018

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A novel mutation in the putative DNA helicase XH2 is responsible for male-to-female sex reversal associated with an atypical form of the ATR-X syndrome

21 June 2018

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Parental perspective of the benefits of genetic testing in children with congenital deafness.

21 June 2018

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Crossref

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01879.X

A newborn infant with a disorder of sexual differentiation

21 January 2018

1 reference

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10.1111/J.1399-0004.2012.01879.X

30 October 2018

Identifiers

DOI

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26 January 2020

1 reference

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26 January 2020

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