Mutations in Calmodulin Cause Ventricular Tachycardia and Sudden Cardiac Death Mette Nyegaard, Michael T. Overgaard, Mads T. Søndergaard, Marta Vranas,

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.

Differential Relationship of DNA Replication Timing to Different Forms of Human Mutation and Variation Amnon Koren, Paz Polak, James Nemesh, Jacob J. Michaelson,

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.

Uncovering the Genetic History of the Present-Day Greenlandic Population Ida Moltke, Matteo Fumagalli, Thorfinn S. Korneliussen, Jacob E. Crawford, Peter.

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.

Mutations in LARS2, Encoding Mitochondrial Leucyl-tRNA Synthetase, Lead to Premature Ovarian Failure and Hearing Loss in Perrault Syndrome Sarah B. Pierce,

De Novo BRCA1 Mutation in a Patient with Breast Cancer and an Inherited BRCA2 Mutation Andrea Tesoriero, Chris Andersen, Melissa Southey, Gino Somers,

Mutations Disrupting Selenocysteine Formation Cause Progressive Cerebello-Cerebral Atrophy Orly Agamy, Bruria Ben Zeev, Dorit Lev, Barak Marcus, Dina Fine,

Genome Scan Meta-Analysis of Schizophrenia and Bipolar Disorder, Part I: Methods and Power Analysis Douglas F. Levinson, Matthew D. Levinson, Ricardo Segurado,

Genomewide Comparison of DNA Sequences between Humans and Chimpanzees Ingo Ebersberger, Dirk Metzler, Carsten Schwarz, Svante Pääbo The American Journal.

Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery Herbert A. Lubs, Roger E. Stevenson, Charles E. Schwartz The American Journal.

Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia—MLASA Syndrome Lisa G. Riley,

Maple Syrup Urine Disease: Identification and Carrier-Frequency Determination of a Novel Founder Mutation in the Ashkenazi Jewish Population Lisa Edelmann,

Shaping Genetic Alterations in Human Cancer: The p53 Mutation Paradigm Thierry Soussi, Klas G. Wiman Cancer Cell Volume 12, Issue 4, Pages (October.

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,

Peopling of Sahul: mtDNA Variation in Aboriginal Australian and Papua New Guinean Populations Alan J. Redd, Mark Stoneking The American Journal of Human.

Transgenic Mice Overexpressing BMP4 Develop a Fibrodysplasia Ossificans Progressiva (FOP)-Like Phenotype Lixin Kan, Min Hu, William A. Gomes, John A. Kessler.

National Guidelines for Nursing Delegation

Anna Middleton, J. Hewison, R.F. Mueller

Illicit drugs and surgery

Transmission/Disequilibrium Tests for Extended Marker Haplotypes

Public Opinion about the Importance of Privacy in Biobank Research

Recurrent infarction causes the most deaths following myocardial infarction with left ventricular dysfunction Stein Ørn, MD, John G.F. Cleland, MD, Matti.

Anna Middleton, J. Hewison, R.F. Mueller

Sudden Cardiac Death, Mitral Valve Prolapse, and Long QT Syndrome

Charmaine D. Royal, John Novembre, Stephanie M. Fullerton, David B

Mette Nyegaard, Michael T. Overgaard, Mads T

2016 Curt Stern Award Address: From Rare to Common Diseases: Translating Genetic Discovery to Therapy1 Brendan Lee The American Journal of Human Genetics

Yu Jiang, Glen A. Satten, Yujun Han, Michael P. Epstein, Erin L

Linkage Thresholds for Two-stage Genome Scans

Genetics, Individuality, and Medicine in the 21st Century*

XMCPDT Does Have Correct Type I Error Rates

Predictors of the Risk of Mortality in Neurofibromatosis 2

Resuscitation practices in cardiac surgery

Memorial for Michael Davidson, MD

GeneTests: Integrating Genetic Services into Patient Care*

Sang Hong Lee, Naomi R. Wray, Michael E. Goddard, Peter M. Visscher

Dan-Yu Lin, Zheng-Zheng Tang The American Journal of Human Genetics

Volume 4, Issue 5, Pages 2-3 (October 2006)

The SNP Endgame: A Multidisciplinary Approach*

Clinical Snippets Journal of Investigative Dermatology

Erratum The American Journal of Human Genetics

A Critical Appraisal of the Scientific Basis of Commercial Genomic Profiles Used to Assess Health Risks and Personalize Health Interventions A. Cecile.

Joseph A. Dearani, MD, Michael J. Ackerman, MD, PhD

Volume 69, Issue 12, Pages (June 2006)

Volume 69, Issue 3, Pages (February 2006)

Increasing the Power and Efficiency of Disease-Marker Case-Control Association Studies through Use of Allele-Sharing Information Tasha E. Fingerlin,

Society for Investigative Dermatology 2010 Meeting Minutes

Greg L. Loeben, Theresa M. Marteau, Benjamin S. Wilfond

Wei Pan, Il-Youp Kwak, Peng Wei The American Journal of Human Genetics

Reviewer Acknowledgment

Fertility and Sterility: an evaluation

Discussion The Journal of Thoracic and Cardiovascular Surgery

The future of cardiac surgery training: A survival guide

George D. Lilly 1906–1988 Journal of Vascular Surgery

Alice S. Whittemore, Jerry Halpern

Anna Middleton, J. Hewison, R.F. Mueller

Hannah R. Elliott, David C. Samuels, James A. Eden, Caroline L

Quiz page December 2003 American Journal of Kidney Diseases

Zuoheng Wang, Mary Sara McPeek The American Journal of Human Genetics

A Chromosomal Deletion Map of Human Malformations

Presentation transcript:

Mutations in Calmodulin Cause Ventricular Tachycardia and Sudden Cardiac Death Mette Nyegaard, Michael T. Overgaard, Mads T. Søndergaard, Marta Vranas, Elijah R. Behr, Lasse L. Hildebrandt, Jacob Lund, Paula L. Hedley, A. John Camm, Göran Wettrell, Inger Fosdal, Michael Christiansen, Anders D. Børglum The American Journal of Human Genetics Volume 91, Issue 4, Pages (October 2012) DOI: /j.ajhg Copyright © 2012 The American Society of Human Genetics Terms and Conditions Terms and Conditions

Figure 1 The American Journal of Human Genetics , DOI: ( /j.ajhg ) Copyright © 2012 The American Society of Human Genetics Terms and Conditions Terms and Conditions

Figure 2 The American Journal of Human Genetics , DOI: ( /j.ajhg ) Copyright © 2012 The American Society of Human Genetics Terms and Conditions Terms and Conditions

Figure 3 The American Journal of Human Genetics , DOI: ( /j.ajhg ) Copyright © 2012 The American Society of Human Genetics Terms and Conditions Terms and Conditions

Figure 4 The American Journal of Human Genetics , DOI: ( /j.ajhg ) Copyright © 2012 The American Society of Human Genetics Terms and Conditions Terms and Conditions