(Q40846183)

24 September 2017

NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine (English)

1 reference

Benjamín Rodríguez-Santiago

24 September 2017

Benjamín Rodríguez-Santiago

3

0 references

Pedro N. Barri

Pedro N Barri

Xavier Estivill i Pallejà

7

0 references

Xavier Estivill

9

0 references

Anna Veiga Lluch

Anna Veiga

5

0 references

author name string

Anna Abulí

1

1 reference

24 September 2017

Montserrat Boada

2

1 reference

24 September 2017

Buenaventura Coroleu

4

1 reference

24 September 2017

Lluís Armengol

6

1 reference

24 September 2017

Luis A Pérez-Jurado

8

1 reference

24 September 2017

16 March 2016

1 reference

24 September 2017

1 reference

24 September 2017

37

1 reference

24 September 2017

6

1 reference

24 September 2017

516-523

1 reference

Recommendations for gamete and embryo donation: a committee opinion.

24 September 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22989

Gamete donation guidelines. The Corsendonk consensus document for the European Union.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22989

Carrier testing for severe childhood recessive diseases by next-generation sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22989

Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22989

Genetic screening of sperm and oocyte donors: ethical and policy implications.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22989

Genome-wide genetic marker discovery and genotyping using next-generation sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22989

ESHRE Task Force on Ethics and Law 21: genetic screening of gamete donors: ethical issues.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22989

Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22989

Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22989

Validation for clinical use of, and initial clinical experience with, a novel approach to population-based carrier screening using high-throughput, next-generation DNA sequencing.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22989

Novel genomic techniques open new avenues in the analysis of monogenic disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22989

An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22989

Fast and accurate short read alignment with Burrows-Wheeler transform

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22989

Comprehensive carrier genetic test using next-generation deoxyribonucleic acid sequencing in infertile couples wishing to conceive through assisted reproductive technology.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22989

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22989

Carrier screening in preconception consultation in primary care

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22989

High frequency of copy number variations and sequence variants at CYP21A2 locus: implication for the genetic diagnosis of 21-hydroxylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22989

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22989

Knowledge and attitudes regarding expanded genetic carrier screening among women's healthcare providers

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22989

Evaluating the necessity for universal screening of prospective oocyte donors using enhanced genetic and psychological testing.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22989

Genetic testing of sperm donors: survey of current practices

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22989

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22989

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22989

Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22989

High carrier frequency of the 35delG deafness mutation in European populations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22989

Heritable disease and sperm donation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22989

inferred from DOI database lookup

7 January 2021

based on heuristic

Expanded carrier screening in reproductive medicine-points to consider: a joint statement of the American College of Medical Genetics and Genomics, American College of Obstetricians and Gynecologists, National Society of Genetic Counselors, Perinatal

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22989

inferred from DOI database lookup

7 January 2021

based on heuristic

Current controversies in prenatal diagnosis 4: pre-conception expanded carrier screening should replace all current prenatal screening for specific single gene disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22989

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.22989

1 reference

24 September 2017

1 reference