Deficiency of the Cytoskeletal Protein SPECC1L Leads to Oblique Facial Clefting Irfan Saadi, Fowzan S. Alkuraya, Stephen S. Gisselbrecht, Wolfram Goessling,

Slides:



Advertisements
Similar presentations
How Do Thermophilic Proteins and Proteomes Withstand High Temperature? Lucas Sawle, Kingshuk Ghosh Biophysical Journal Volume 101, Issue 1, Pages
Advertisements

Replication Stress Induces Genome-wide Copy Number Changes in Human Cells that Resemble Polymorphic and Pathogenic Variants Martin F. Arlt, Jennifer G.
Analysis of Kinetic Intermediates in Single-Particle Dwell-Time Distributions Daniel L. Floyd, Stephen C. Harrison, Antoine M. van Oijen Biophysical Journal.
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.
The Dynamics and Mechanics of Endothelial Cell Spreading Cynthia A. Reinhart-King, Micah Dembo, Daniel A. Hammer Biophysical Journal Volume 89, Issue 1,
TFIIH Subunit Alterations Causing Xeroderma Pigmentosum and Trichothiodystrophy Specifically Disturb Several Steps during Transcription Amita Singh, Emanuel.
Elevated Frequency and Allelic Heterogeneity of Congenital Nephrotic Syndrome, Finnish Type, in the Old Order Mennonites Stacey Bolk, Erik G. Puffenberger,
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.
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.
A Hydrodynamic Model for Hindered Diffusion of Proteins and Micelles in Hydrogels Ronald J. Phillips Biophysical Journal Volume 79, Issue 6, Pages
Genome Scan Meta-Analysis of Schizophrenia and Bipolar Disorder, Part I: Methods and Power Analysis Douglas F. Levinson, Matthew D. Levinson, Ricardo Segurado,
Lever-Arm Mechanics of Processive Myosins Yujie Sun, Yale E. Goldman Biophysical Journal Volume 101, Issue 1, Pages 1-11 (July 2011) DOI: /j.bpj
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,
CC Chemokine Receptor 5 and CXC Chemokine Receptor 6 Expression by Lung CD8+ Cells Correlates with Chronic Obstructive Pulmonary Disease Severity Christine.
Telomerase Activity and Expression of Telomerase RNA Component and Telomerase Catalytic Subunit Gene in Cervical Cancer Kenji Nakano, Elizabeth Watney,
Low-Dose Aspirin in Patients with Stable Cardiovascular Disease: A Meta-analysis Jeffrey S. Berger, MD, MS, David L. Brown, MD, Richard C. Becker, MD The.
Agarose-Dextran Gels as Synthetic Analogs of Glomerular Basement Membrane: Water Permeability Jeffrey A. White, William M. Deen Biophysical Journal Volume.
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.
Enterococcus faecalis Induces Inflammatory Bowel Disease in Interleukin-10 Knockout Mice Edward Balish, Thomas Warner The American Journal of Pathology.
National Guidelines for Nursing Delegation
The Trimmed-Haplotype Test for Linkage Disequilibrium
Anna Middleton, J. Hewison, R.F. Mueller 
Transmission/Disequilibrium Tests for Extended Marker Haplotypes
Public Opinion about the Importance of Privacy in Biobank Research
Anna Middleton, J. Hewison, R.F. Mueller 
Mutation Screening in Juvenile Polyposis Syndrome
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
Malcolm O. Perry, MD, Richard Kempczinski, MD 
GeneTests: Integrating Genetic Services into Patient Care*
Spread the Word About CHEST in 2015
Kristina Allen-Brady, Peggy A. Norton, James M
Sang Hong Lee, Naomi R. Wray, Michael E. Goddard, Peter M. Visscher 
An Editorial Note: The Long Arm of Practical Radiation Oncology
Irfan Saadi, Fowzan S. Alkuraya, Stephen S
Dan-Yu Lin, Zheng-Zheng Tang  The American Journal of Human Genetics 
The SNP Endgame: A Multidisciplinary Approach*
Family-Based Tests of Association in the Presence of Linkage
Erratum The American Journal of Human Genetics
Volume 69, Issue 12, Pages (June 2006)
Volume 69, Issue 3, Pages (February 2006)
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 
Position of the American Dietetic Association: Vegetarian Diets
Reviewer Acknowledgment
Genetic Influences on Human Body Odor: From Genes to the Axillae
Discussion The Journal of Thoracic and Cardiovascular Surgery
Journal of Investigative Dermatology
Monique A. Johnson, Marvin J. Yoshitomi, C. Sue Richards 
Managing conflicts of interest
The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results  Yvonne Bombard, Kyle B. Brothers,
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 
Presentation transcript:

Deficiency of the Cytoskeletal Protein SPECC1L Leads to Oblique Facial Clefting Irfan Saadi, Fowzan S. Alkuraya, Stephen S. Gisselbrecht, Wolfram Goessling, Resy Cavallesco, Annick Turbe-Doan, Aline L. Petrin, James Harris, Ursela Siddiqui, Arthur W. Grix, Hanne D. Hove, Philippe Leboulch, Thomas W. Glover, Cynthia C. Morton, Antonio Richieri-Costa, Jeffrey C. Murray, Robert P. Erickson, Richard L. Maas The American Journal of Human Genetics Volume 89, Issue 1, Pages (July 2011) DOI: /j.ajhg Copyright © 2011 The American Society of Human Genetics Terms and Conditions Terms and Conditions

Figure 1 The American Journal of Human Genetics , 44-55DOI: ( /j.ajhg ) Copyright © 2011 The American Society of Human Genetics Terms and Conditions Terms and Conditions

Figure 2 The American Journal of Human Genetics , 44-55DOI: ( /j.ajhg ) Copyright © 2011 The American Society of Human Genetics Terms and Conditions Terms and Conditions

Figure 3 The American Journal of Human Genetics , 44-55DOI: ( /j.ajhg ) Copyright © 2011 The American Society of Human Genetics Terms and Conditions Terms and Conditions

Figure 4 The American Journal of Human Genetics , 44-55DOI: ( /j.ajhg ) Copyright © 2011 The American Society of Human Genetics Terms and Conditions Terms and Conditions

Figure 5 The American Journal of Human Genetics , 44-55DOI: ( /j.ajhg ) Copyright © 2011 The American Society of Human Genetics Terms and Conditions Terms and Conditions

Figure 6 The American Journal of Human Genetics , 44-55DOI: ( /j.ajhg ) Copyright © 2011 The American Society of Human Genetics Terms and Conditions Terms and Conditions