Penetrance of Hemochromatosis in HFE Genotypes Resulting in p

Slides:



Advertisements
Similar presentations
Replication Stress Induces Genome-wide Copy Number Changes in Human Cells that Resemble Polymorphic and Pathogenic Variants Martin F. Arlt, Jennifer G.
Advertisements

Novel PMS2 Pseudogenes Can Conceal Recessive Mutations Causing a Distinctive Childhood Cancer Syndrome Michel De Vos, Bruce E. Hayward, Susan Picton, Eamonn.
Nuclear and Mitochondrial DNA Analysis of a 2,000-Year-Old Necropolis in the Egyin Gol Valley of Mongolia Christine Keyser-Tracqui, Eric Crubézy, Bertrand.
Length Distributions of Identity by Descent Reveal Fine-Scale Demographic History Pier Francesco Palamara, Todd Lencz, Ariel Darvasi, Itsik Pe’er The American.
TFIIH Subunit Alterations Causing Xeroderma Pigmentosum and Trichothiodystrophy Specifically Disturb Several Steps during Transcription Amita Singh, Emanuel.
Previous Estimates of Mitochondrial DNA Mutation Level Variance Did Not Account for Sampling Error: Comparing the mtDNA Genetic Bottleneck in Mice and.
Connexin Mutations in Skin Disease and Hearing Loss David P. Kelsell, Wei-Li Di, Mark J. Houseman The American Journal of Human Genetics Volume 68, Issue.
Functional Analysis of the Neurofibromatosis Type 2 Protein by Means of Disease- Causing Point Mutations Renee P. Stokowski, David R. Cox The American.
Gene Preference in Maple Syrup Urine Disease Mary M. Nellis, Dean J. Danner The American Journal of Human Genetics Volume 68, Issue 1, Pages (January.
X-Ray Absorption Spectroscopy of Dinuclear Metallohydrolases David L. Tierney, Gerhard Schenk Biophysical Journal Volume 107, Issue 6, Pages
Alternative Splicing QTLs in European and African Populations Halit Ongen, Emmanouil T. Dermitzakis The American Journal of Human Genetics Volume 97, Issue.
A Multilocus Model of the Genetic Architecture of Autoimmune Thyroid Disorder, with Clinical Implications Veronica J. Vieland, Yungui Huang, Christopher.
Meta-analysis of Correlated Traits via Summary Statistics from GWASs with an Application in Hypertension Xiaofeng Zhu, Tao Feng, Bamidele O. Tayo, Jingjing.
Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery Herbert A. Lubs, Roger E. Stevenson, Charles E. Schwartz The American Journal.
La néphropathie chronique en présence de diabète Canadian Journal of Diabetes Volume 37, Pages S504-S512 (October 2013) DOI: /j.jcjd
Young Woman With Abdominal Pain David Jones, MD Annals of Emergency Medicine Volume 64, Issue 4, (October 2014) DOI: /j.annemergmed
2015 Alzheimer's disease facts and figures Alzheimer's & Dementia: The Journal of the Alzheimer's Association Volume 11, Issue 3, Pages (March.
The Duty to Recontact: Attitudes of Genetics Service Providers Jennifer L. Fitzpatrick, Cecil Hahn, Teresa Costa, Marlene J. Huggins The American Journal.
PRIMUS: Rapid Reconstruction of Pedigrees from Genome-wide Estimates of Identity by Descent Jeffrey Staples, Dandi Qiao, Michael H. Cho, Edwin K. Silverman,
Incidence and Outcomes of Asthma in the Elderly
Comparative Survival After Transapical, Direct Aortic, and Subclavian Transcatheter Aortic Valve Implantation (Data from the UK TAVI Registry)  Georg.
Volume 105, Issue 3, Pages (March 1994)
Two decades of pediatric lung transplant in the United States: Have we improved?  Farhan Zafar, MD, Jeffrey S. Heinle, MD, Marc G. Schecter, MD, Joseph.
by Femke N. G. van ’t Hof, Ynte M
Volume 129, Issue 2, Pages (August 2005)
Transmission/Disequilibrium Tests for Extended Marker Haplotypes
Charmaine D. Royal, John Novembre, Stephanie M. Fullerton, David B
John R. Meuleman, MD, William F. Brechue, PhD, Paul S
Natural history of the C282Y homozygote for the hemochromatosis gene (HFE) with a normal serum ferritin level  Cory Yamashita, Paul C Adams  Clinical.
Association of Family History of Specific Cancers With a Younger Age of Onset of Pancreatic Adenocarcinoma  Robert R. McWilliams, William R. Bamlet, Kari.
Middle-Aged Man With Rash
2016 Curt Stern Award Address: From Rare to Common Diseases: Translating Genetic Discovery to Therapy1  Brendan Lee  The American Journal of Human Genetics 
Jennifer J. Williams, Gilaad G. Kaplan, Sapna Makhija, Stefan J
The Origin of Abnormalities in Recurrent Aneuploidy/Polyploidy
Variants Near FOXE1 Are Associated with Hypothyroidism and Other Thyroid Conditions: Using Electronic Medical Records for Genome- and Phenome-wide Studies 
A Combined Linkage-Physical Map of the Human Genome
Matthew W. Parker, MD, Murray A. Mittleman, MD, DrPH, Carol A
Genetics, Individuality, and Medicine in the 21st Century*
Penetrance of Hemochromatosis in HFE Genotypes Resulting in p
Arno G. Motulsky (1923–2018): A Founder of Medical Genetics, Creator of Pharmacogenetics, and Former ASHG President  Gail P. Jarvik, Mary-Claire King 
The Obesity Paradox and Weight Loss
It is still mostly about the mitral valve
Predictors of the Risk of Mortality in Neurofibromatosis 2
GeneTests: Integrating Genetic Services into Patient Care*
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting  Caroline F. Wright, Ben West,
Impact of Positive Nodal Metastases in Patients with Thymic Carcinoma and Thymic Neuroendocrine Tumors  Benny Weksler, MD, Anthony Holden, MD, Jennifer.
Charles Joseph Epstein, M.D., 1933–2011, In Memoriam
Daniel Seung Kim, BS, Jerry H. Kim, MD, Amber A. Burt, MS, David R
Confessions of a journal junkie
Janet Davison Rowley, M.D. (1925–2013)
Family-Based Association Studies for Next-Generation Sequencing
Value for Money? Array Genomic Hybridization for Diagnostic Testing for Genetic Causes of Intellectual Disability  Dean A. Regier, Jan M. Friedman, Carlo.
Impact on Disease-Free Survival of Adjuvant Erlotinib or Gefitinib in Patients with Resected Lung Adenocarcinomas that Harbor EGFR Mutations  Yelena Y.
Volume 155, Issue 1, Pages (January 2019)
Privacy Risks from Genomic Data-Sharing Beacons
The SNP Endgame: A Multidisciplinary Approach*
Erratum The American Journal of Human Genetics
American Journal of Kidney Diseases
Increasing the Power and Efficiency of Disease-Marker Case-Control Association Studies through Use of Allele-Sharing Information  Tasha E. Fingerlin,
Greg L. Loeben, Theresa M. Marteau, Benjamin S. Wilfond 
Victor Almon McKusick, MD, 1921–2008, In Memoriam
Clinical haemochromatosis in HFE mutation carriers
Janet Davison Rowley, M.D. (1925–2013)
Interferon alfa-2a for melanoma metastases
Detection and Integration of Genotyping Errors in Statistical Genetics
Volume 162, Issue 2, Pages (July 2015)
A Chromosomal Deletion Map of Human Malformations
Robust Replication of Genotype-Phenotype Associations across Multiple Diseases in an Electronic Medical Record  Marylyn D. Ritchie, Joshua C. Denny, Dana.
Volume 129, Issue 2, Pages (August 2005)
Node-Negative Non-small Cell Lung Cancer: Pathological Staging and Survival in 1765 Consecutive Cases  Benjamin M. Robinson, BSc, MBBS, Catherine Kennedy,
Presentation transcript:

Penetrance of Hemochromatosis in HFE Genotypes Resulting in p Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network  Carlos J. Gallego, Amber Burt, Agnes S. Sundaresan, Zi Ye, Christopher Shaw, David R. Crosslin, Paul K. Crane, S. Malia Fullerton, Kris Hansen, David Carrell, Helena Kuivaniemi, Kimberly Derr, Mariza de Andrade, Catherine A. McCarty, Terrie E. Kitchner, Brittany K. Ragon, Sarah C. Stallings, Gabriella Papa, Joseph Bochenek, Maureen E. Smith, Sharon A. Aufox, Jennifer A. Pacheco, Vaibhav Patel, Elisha M. Friesema, Angelika Ludtke Erwin, Omri Gottesman, Glenn S. Gerhard, Marylyn Ritchie, Arno G. Motulsky, Iftikhar J. Kullo, Eric B. Larson, Gerard Tromp, Murray H. Brilliant, Erwin Bottinger, Joshua C. Denny, Dan M. Roden, Marc S. Williams, Gail P. Jarvik  The American Journal of Human Genetics  Volume 97, Issue 4, Pages 512-520 (October 2015) DOI: 10.1016/j.ajhg.2015.08.008 Copyright © 2015 The Authors Terms and Conditions

Figure 1 Kaplan-Meier Curves of HH Diagnosis Frequency of HH diagnosis by age and sex separately for HFE p.Cys282Tyr homozygotes and p.[Cys282Tyr];[His63Asp] compound heterozygotes. Each crosshair represents a new HH diagnosis. The American Journal of Human Genetics 2015 97, 512-520DOI: (10.1016/j.ajhg.2015.08.008) Copyright © 2015 The Authors Terms and Conditions