Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3 Jessica X. Chong, Lindsay C. Burrage, Anita E. Beck, Colby T. Marvin, Margaret.

Slides:

Advertisements

Similar presentations

Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta Yasemin Alanay, Hrispima Avaygan, Natalia Camacho,

Advertisements

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

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.

Distinct Properties of Cell-Type-Specific and Shared Transcription Factor Binding Sites Jason Gertz, Daniel Savic, Katherine E. Varley, E. Christopher.

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

CHD7 Gene Polymorphisms Are Associated with Susceptibility to Idiopathic Scoliosis Xiaochong Gao, Derek Gordon, Dongping Zhang, Richard Browne, Cynthia.

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.

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

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,

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.

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

A Staphylococcus aureus Fitness Test Platform for Mechanism-Based Profiling of Antibacterial Compounds Robert G.K. Donald, Stephen Skwish, R. Allyn Forsyth,

Cell Traction Forces Direct Fibronectin Matrix Assembly Christopher A. Lemmon, Christopher S. Chen, Lewis H. Romer Biophysical Journal Volume 96, Issue.

De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay Valerie A.

Charged Polymers Modulate Retrovirus Transduction via Membrane Charge Neutralization and Virus Aggregation Howard E. Davis, Matthew Rosinski, Jeffrey R.

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,

The Trimmed-Haplotype Test for Linkage Disequilibrium

Chen Yao, Roby Joehanes, Andrew D

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

Jennifer J. Johnston, Katie L. Lewis, David Ng, Larry N

Pathogenic Variants for Mendelian and Complex Traits in Exomes of 6,517 European and African Americans: Implications for the Return of Incidental Results

LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections Dong-chuan Guo, Ellen S. Regalado, Amelie Pinard, Jiyuan.

Margaret J. McMillin, Anita E. Beck, Jessica X. Chong, Kathryn M

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

De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay Jessica X.

Mutations in KCTD1 Cause Scalp-Ear-Nipple Syndrome

Rare-Variant Extensions of the Transmission Disequilibrium Test: Application to Autism Exome Sequence Data Zongxiao He, Brian J. O’Roak, Joshua D. Smith,

Ren-Hua Chung, Richard W. Morris, Li Zhang, Yi-Ju Li, Eden R. Martin

Variants Near FOXE1 Are Associated with Hypothyroidism and Other Thyroid Conditions: Using Electronic Medical Records for Genome- and Phenome-wide Studies

Detecting and Estimating Contamination of Human DNA Samples in Sequencing and Array-Based Genotype Data Goo Jun, Matthew Flickinger, Kurt N. Hetrick,

Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome Francois P. Bernier, Oana Caluseriu, Sarah Ng, Jeremy.

Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory Sumit Punj, Yassmine Akkari, Jennifer Huang, Fei Yang, Allison.

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder Gali Heimer, Juha M. Kerätär, Lisa G.

Oocyte cryopreservation

Guidelines for Large-Scale Sequence-Based Complex Trait Association Studies: Lessons Learned from the NHLBI Exome Sequencing Project Paul L. Auer, Alex.

Jessica X. Chong, Kati J. Buckingham, Shalini N

The Rare-Variant Generalized Disequilibrium Test for Association Analysis of Nuclear and Extended Pedigrees with Application to Alzheimer Disease WGS.

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

Alkes L. Price, Gregory V. Kryukov, Paul I. W. de Bakker, Shaun M

Gail P. Jarvik, Brian L. Browning

Michael R. Knowles, Margaret W. Leigh, Lawrence E

Jessica X. Chong, Lindsay C. Burrage, Anita E. Beck, Colby T

Whole-Genome Analysis Reveals that Mutations in Inositol Polyphosphate Phosphatase-like 1 Cause Opsismodysplasia Jennifer E. Below, Dawn L. Earl, Kathryn M.

Family-Based Tests of Association in the Presence of Linkage

Erratum The American Journal of Human Genetics

Mutations in ECEL1 Cause Distal Arthrogryposis Type 5D

Jeremy M. Silverman, Christopher J. Smith, Deborah B

Common Deletion of SMAD4 in Juvenile Polyposis Is a Mutational Hotspot

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

Haplotype Diversity across 100 Candidate Genes for Inflammation, Lipid Metabolism, and Blood Pressure Regulation in Two Populations Dana C. Crawford,

Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing

Volume 77, Issue 11, Pages (June 2010)

Regie Lyn P. Santos-Cortez, Rabia Faridi, Atteeq U

The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results Yvonne Bombard, Kyle B. Brothers,

Alice S. Whittemore, Jerry Halpern

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

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

On Genome-wide Association Studies for Family-Based Designs: An Integrative Analysis Approach Combining Ascertained Family Samples with Unselected Controls

Mark Gibbs, Janet L. Stanford, Gail P

Presentation transcript:

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3 Jessica X. Chong, Lindsay C. Burrage, Anita E. Beck, Colby T. Marvin, Margaret J. McMillin, Kathryn M. Shively, Tanya M. Harrell, Kati J. Buckingham, Carlos A. Bacino, Mahim Jain, Yasemin Alanay, Susan A. Berry, John C. Carey, Richard A. Gibbs, Brendan H. Lee, Deborah Krakow, Jay Shendure, Deborah A. Nickerson Michael J. Bamshad, Jay Shendure, Deborah A. Nickerson, Gonçalo R. Abecasis, Peter Anderson, Elizabeth Marchani Blue, Marcus Annable, Brian L. Browning, Kati J. Buckingham, Christina Chen, Jennifer Chin, Jessica X. Chong, Gregory M. Cooper, Colleen P. Davis, Christopher Frazar, Tanya M. Harrell, Zongxiao He, Preti Jain, Gail P. Jarvik, Guillaume Jimenez, Eric Johanson, Goo Jun, Martin Kircher, Tom Kolar, Stephanie A. Krauter, Niklas Krumm, Suzanne M. Leal, Daniel Luksic, Colby T. Marvin, Margaret J. McMillin, Sean McGee, Patrick O’Reilly, Bryan Paeper, Karynne Patterson, Marcos Perez, Sam W. Phillips, Jessica Pijoan, Christa Poel, Frederic Reinier, Peggy D. Robertson, Regie Santos-Cortez, Tristan Shaffer, Cindy Shephard, Kathryn M. Shively, Deborah L. Siegel, Joshua D. Smith, Jeffrey C. Staples, Holly K. Tabor, Monica Tackett, Jason G. Underwood, Marc Wegener, Gao Wang, Marsha M. Wheeler, Qian Yi, Michael J. Bamshad Jessica X. Chong, Lindsay C. Burrage, Anita E. Beck, Colby T. Marvin, Margaret J. McMillin, Kathryn M. Shively, Tanya M. Harrell, Kati J. Buckingham, Carlos A. Bacino, Mahim Jain, Yasemin Alanay, Susan A. Berry, John C. Carey, Richard A. Gibbs, Brendan H. Lee, Deborah Krakow, Jay Shendure, Deborah A. Nickerson Michael J. Bamshad, Jay Shendure, Deborah A. Nickerson, Gonçalo R. Abecasis, Peter Anderson, Elizabeth Marchani Blue, Marcus Annable, Brian L. Browning, Kati J. Buckingham, Christina Chen, Jennifer Chin, Jessica X. Chong, Gregory M. Cooper, Colleen P. Davis, Christopher Frazar, Tanya M. Harrell, Zongxiao He, Preti Jain, Gail P. Jarvik, Guillaume Jimenez, Eric Johanson, Goo Jun, Martin Kircher, Tom Kolar, Stephanie A. Krauter, Niklas Krumm, Suzanne M. Leal, Daniel Luksic, Colby T. Marvin, Margaret J. McMillin, Sean McGee, Patrick O’Reilly, Bryan Paeper, Karynne Patterson, Marcos Perez, Sam W. Phillips, Jessica Pijoan, Christa Poel, Frederic Reinier, Peggy D. Robertson, Regie Santos-Cortez, Tristan Shaffer, Cindy Shephard, Kathryn M. Shively, Deborah L. Siegel, Joshua D. Smith, Jeffrey C. Staples, Holly K. Tabor, Monica Tackett, Jason G. Underwood, Marc Wegener, Gao Wang, Marsha M. Wheeler, Qian Yi, Michael J. Bamshad The American Journal of Human Genetics Volume 96, Issue 5, Pages (May 2015) DOI: /j.ajhg Copyright © 2015 The American Society of Human Genetics Terms and Conditions Terms and Conditions

Figure 1 The American Journal of Human Genetics , DOI: ( /j.ajhg ) Copyright © 2015 The American Society of Human Genetics Terms and Conditions Terms and Conditions

Figure 2 The American Journal of Human Genetics , DOI: ( /j.ajhg ) Copyright © 2015 The American Society of Human Genetics Terms and Conditions Terms and Conditions

Figure 3 The American Journal of Human Genetics , DOI: ( /j.ajhg ) Copyright © 2015 The American Society of Human Genetics Terms and Conditions Terms and Conditions

Figure 4 The American Journal of Human Genetics , DOI: ( /j.ajhg ) Copyright © 2015 The American Society of Human Genetics Terms and Conditions Terms and Conditions