(Q30881351)

12 September 2017

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data (English)

1 reference

12 September 2017

27

Michael Parker

0 references

Alejandro Sifrim

Alejandro Sifrim

23

0 references

Tomas W Fitzgerald

Tomas W Fitzgerald

2

0 references

Caroline F. Wright

Caroline F Wright

1

0 references

Jeffrey C Barrett

Jeffrey C Barrett

29

0 references

Katherine I. Morley

Katherine I Morley

19

0 references

David R. FitzPatrick

David R FitzPatrick

31

0 references

Anna Middleton

26

Anna Middleton

1 reference

12 September 2017

32

Helen V Firth

1 reference

12 September 2017

28

Nigel P Carter

1 reference

12 September 2017

Wendy D Jones

3

1 reference

12 September 2017

Stephen Clayton

4

1 reference

12 September 2017

Jeremy F McRae

5

1 reference

12 September 2017

Margriet van Kogelenberg

6

1 reference

12 September 2017

Daniel A King

7

1 reference

12 September 2017

Kirsty Ambridge

8

1 reference

12 September 2017

Daniel M Barrett

9

1 reference

12 September 2017

Tanya Bayzetinova

10

1 reference

12 September 2017

A Paul Bevan

11

1 reference

12 September 2017

Eugene Bragin

12

1 reference

12 September 2017

Eleni A Chatzimichali

13

1 reference

12 September 2017

Susan Gribble

14

1 reference

12 September 2017

Philip Jones

15

1 reference

12 September 2017

Netravathi Krishnappa

16

1 reference

12 September 2017

Laura E Mason

17

1 reference

12 September 2017

Ray Miller

18

1 reference

12 September 2017

Vijaya Parthiban

20

1 reference

12 September 2017

Elena Prigmore

21

1 reference

12 September 2017

Diana Rajan

22

1 reference

12 September 2017

G Jawahar Swaminathan

24

1 reference

12 September 2017

Adrian R Tivey

25

1 reference

12 September 2017

Matthew E Hurles

30

1 reference

12 September 2017

DDD study

33

1 reference

12 September 2017

language of work or name

English

0 references

publication date

17 December 2014

1 reference

12 September 2017

1 reference

12 September 2017

385

1 reference

12 September 2017

1305-1314

1 reference

12 September 2017

9975

1 reference

No expectation to share incidental findings in genomic research.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392068

Clinical exome sequencing for genetic identification of rare Mendelian disorders

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392068

Molecular findings among patients referred for clinical whole-exome sequencing

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392068

Guidelines for investigating causality of sequence variants in human disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392068

Exome-based mapping and variant prioritization for inherited Mendelian disorders

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392068

A general framework for estimating the relative pathogenicity of human genetic variants

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392068

A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392068

DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392068

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392068

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392068

Genic intolerance to functional variation and the interpretation of personal genomes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392068

DeNovoGear: de novo indel and point mutation discovery and phasing.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392068

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392068

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392068

Do researchers have an obligation to actively look for genetic incidental findings?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392068

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392068

Managing incidental findings and research results in genomic research involving biobanks and archived data sets

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392068

Treatable inborn errors of metabolism causing intellectual disability: a systematic literature review.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392068

Exome sequencing as a tool for Mendelian disease gene discovery

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392068

Exome sequencing and the genetics of intellectual disability.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392068

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392068

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392068

MutationTaster evaluates disease-causing potential of sequence alterations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392068

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392068

The human phenotype ontology.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392068

A method and server for predicting damaging missense mutations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392068

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392068

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392068

Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392068

The incidentalome: a threat to genomic medicine

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392068

Mechanisms leading to uniparental disomy and their clinical consequences

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392068

Policy challenges of clinical genome sequencing

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392068

Empirical research on the ethics of genomic research.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392068

Diagnostic exome sequencing in persons with severe intellectual disability

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392068

The Deciphering Developmental Disorders (DDD) study.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392068

Deploying whole genome sequencing in clinical practice and public health: meeting the challenge one bin at a time

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392068

A de novo paradigm for mental retardation.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4392068

Mechanisms leading to uniparental disomy and their clinical consequences

25 November 2018

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FS0140-6736%2814%2961705-0

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/S0140-6736(14)61705-0

1 reference

12 September 2017

1 reference

12 September 2017

1 reference