(Q36362825)

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Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

19 February 2018

http://europepmc.org/abstract/PMC/5729344

Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders (English)

1 reference

Europe PubMed Central

PMC publication ID

19 February 2018

http://europepmc.org/abstract/PMC/5729344

Maja Tarailo-Graovac

1

1 reference

Europe PubMed Central

PMC publication ID

19 February 2018

http://europepmc.org/abstract/PMC/5729344

Allison M Cotton

object named as

Allison Matthews

3

0 references

Wyeth Wasserman

object named as

Wyeth W Wasserman

5

0 references

author name string

Jing Yun Alice Zhu

2

1 reference

Europe PubMed Central

PMC publication ID

19 February 2018

http://europepmc.org/abstract/PMC/5729344

Clara D M van Karnebeek

4

1 reference

Europe PubMed Central

PMC publication ID

19 February 2018

http://europepmc.org/abstract/PMC/5729344

language of work or name

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publication date

4 May 2017

1 reference

Europe PubMed Central

PMC publication ID

19 February 2018

http://europepmc.org/abstract/PMC/5729344

Genetics in Medicine

1 reference

Europe PubMed Central

PMC publication ID

19 February 2018

http://europepmc.org/abstract/PMC/5729344

19

1 reference

Europe PubMed Central

PMC publication ID

19 February 2018

http://europepmc.org/abstract/PMC/5729344

12

1 reference

Europe PubMed Central

PMC publication ID

19 February 2018

http://europepmc.org/abstract/PMC/5729344

1300-1308

1 reference

Europe PubMed Central

PMC publication ID

19 February 2018

http://europepmc.org/abstract/PMC/5729344

https://scigraph.springernature.com/pub.10.1038/gim.2017.50

0 references

Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5729344

28 June 2018

Aggregate penetrance of genomic variants for actionable disorders in European and African Americans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5729344

28 June 2018

Analysis of protein-coding genetic variation in 60,706 humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5729344

28 June 2018

Genetic Misdiagnoses and the Potential for Health Disparities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5729344

28 June 2018

Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5729344

28 June 2018

Exome Sequencing and the Management of Neurometabolic Disorders.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5729344

28 June 2018

ClinVar: public archive of interpretations of clinically relevant variants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5729344

28 June 2018

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5729344

28 June 2018

Gaucher disease types 1 and 3: Phenotypic characterization of large populations from the ICGG Gaucher Registry

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5729344

28 June 2018

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5729344

28 June 2018

Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5729344

28 June 2018

Age-related clonal hematopoiesis associated with adverse outcomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5729344

28 June 2018

Age-related mutations associated with clonal hematopoietic expansion and malignancies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5729344

28 June 2018

Molecular findings among patients referred for clinical whole-exome sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5729344

28 June 2018

Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5729344

28 June 2018

VariantAnnotation: a Bioconductor package for exploration and annotation of genetic variants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5729344

28 June 2018

Deletion of Asxl1 results in myelodysplasia and severe developmental defects in vivo

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5729344

28 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5729344

28 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5729344

28 June 2018

Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5729344

28 June 2018

Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5729344

28 June 2018

The variant call format and VCFtools

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5729344

28 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5729344

28 June 2018

Integrative genomics viewer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5729344

28 June 2018

Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5729344

28 June 2018

Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5729344

28 June 2018

Mutations in CBL occur frequently in juvenile myelomonocytic leukemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5729344

28 June 2018

The Sequence Alignment/Map format and SAMtools

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5729344

28 June 2018

Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5729344

28 June 2018

Integration of 60,000 exomes and ACMG guidelines question the role of Catecholaminergic Polymorphic Ventricular Tachycardia-associated variants.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5729344

22 September 2018

Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5729344

22 September 2018

Clinical Genomics: From Pathogenicity Claims to Quantitative Risk Estimates

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5729344

22 September 2018

Clinical delineation of the PACS1-related syndrome--Report on 19 patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5729344

22 September 2018

Exploring the landscape of pathogenic genetic variation in the ExAC population database: insights of relevance to variant classification.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5729344

22 September 2018

Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5729344

22 September 2018

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5729344

22 September 2018

Gaucher disease: variability in phenotype among siblings

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.50

7 January 2021

based on heuristic

inferred from DOI database lookup

M34T and V37I mutations inGJB2 associated hearing impairment: Evidence for pathogenicity and reduced penetrance

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.50

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/GIM.2017.50

1 reference

Europe PubMed Central

PMC publication ID

19 February 2018

http://europepmc.org/abstract/PMC/5729344

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

19 February 2018

http://europepmc.org/abstract/PMC/5729344

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

19 February 2018

http://europepmc.org/abstract/PMC/5729344

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