(Q36133270)

12 August 2017

Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network (English)

1 reference

12 August 2017

26

Omri Gottesman

1 reference

12 August 2017

38

Gail P Jarvik

0 references

Helena Kuivaniemi

Helena Kuivaniemi

11

0 references

Gerard Tromp

Gerard Tromp

32

0 references

Catherine A. McCarty

Catherine A McCarty

14

0 references

Erwin Böttinger

34

Erwin Bottinger

1 reference

12 August 2017

28

Marylyn Ritchie

1 reference

12 August 2017

7

Paul K Crane

1 reference

12 August 2017

24

Elisha M Friesema

1 reference

12 August 2017

35

Joshua C Denny

1 reference

12 August 2017

13

Mariza de Andrade

1 reference

12 August 2017

36

Dan M Roden

1 reference

12 August 2017

18

Gabriella Papa

1 reference

12 August 2017

37

Marc S Williams

1 reference

12 August 2017

22

Jennifer A Pacheco

1 reference

12 August 2017

6

David R Crosslin

1 reference

12 August 2017

30

Iftikhar J Kullo

1 reference

12 August 2017

17

Sarah C Stallings

1 reference

12 August 2017

10

David Carrell

1 reference

12 August 2017

15

Terrie E Kitchner

1 reference

12 August 2017

33

Murray H Brilliant

1 reference

12 August 2017

2

Amber Burt

1 reference

12 August 2017

27

Glenn S Gerhard

1 reference

12 August 2017

Angelika Ludtke Erwin

25

Angelika Ludtke Erwin

1 reference

12 August 2017

Carlos J Gallego

1

1 reference

12 August 2017

Agnes S Sundaresan

3

1 reference

12 August 2017

Zi Ye

4

1 reference

12 August 2017

Christopher Shaw

5

1 reference

12 August 2017

S Malia Fullerton

8

1 reference

12 August 2017

Kris Hansen

9

1 reference

12 August 2017

Kimberly Derr

12

1 reference

12 August 2017

Brittany K Ragon

16

1 reference

12 August 2017

Joseph Bochenek

19

1 reference

12 August 2017

Maureen E Smith

20

1 reference

12 August 2017

Sharon A Aufox

21

1 reference

12 August 2017

Vaibhav Patel

23

1 reference

12 August 2017

Arno G Motulsky

29

1 reference

12 August 2017

Eric B Larson

31

1 reference

12 August 2017

language of work or name

English

0 references

publication date

9 September 2015

1 reference

American Journal of Human Genetics

12 August 2017

1 reference

12 August 2017

97

1 reference

12 August 2017

4

1 reference

12 August 2017

512-520

1 reference

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

12 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596892

Imputation and quality control steps for combining multiple genome-wide datasets

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596892

Non-HFE hemochromatosis: pathophysiological and diagnostic aspects

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596892

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596892

The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596892

Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596892

The eMERGE Network: a consortium of biorepositories linked to electronic medical records data for conducting genomic studies

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596892

Diagnosis and management of hereditary haemochromatosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596892

Quality control procedures for genome-wide association studies

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596892

Hereditary hemochromatosis: pathogenesis, diagnosis, and treatment

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596892

Research electronic data capture (REDCap)--a metadata-driven methodology and workflow process for providing translational research informatics support

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596892

Development of a large-scale de-identified DNA biobank to enable personalized medicine.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596892

Clinical penetrance of C282Y homozygous HFE haemochromatosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596892

Iron-overload-related disease in HFE hereditary hemochromatosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596892

Screening for hereditary hemochromatosis: a systematic review for the U.S. Preventive Services Task Force

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596892

Reverse cascade screening of newborns for hereditary haemochromatosis: a model for other late onset diseases?

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596892

Hemochromatosis and iron-overload screening in a racially diverse population.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596892

Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596892

A population-based study of the clinical expression of the hemochromatosis gene

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596892

A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596892

Penetrance of 845G--> A (C282Y) HFE hereditary haemochromatosis mutation in the USA.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596892

Genetic screening for HFE hemochromatosis in 6,020 Danish men: penetrance of C282Y, H63D, and S65C variants.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596892

Penetrance of the C28Y/C282Y genotype of the HFE gene.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596892

Hemochromatosis mutations in the general population: iron overload progression rate

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596892

Penetrance of hemochromatosis

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596892

Designing medical record abstraction forms

23 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26365338

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Long-term survival in patients with hereditary hemochromatosis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26365338

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Use of community genetic screening to prevent HFE-associated hereditary haemochromatosis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26365338

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2015.08.008

1 reference

12 August 2017

1 reference

12 August 2017

1 reference