De Novo Mutations in FOXP1 in Cases with Intellectual Disability, Autism, and Language Impairment Fadi F. Hamdan, Hussein Daoud, Daniel Rochefort, Amélie.

Slides:



Advertisements
Similar presentations
Mutations in DOCK7 in Individuals with Epileptic Encephalopathy and Cortical Blindness Isabelle Perrault, Fadi F. Hamdan, Marlène Rio, José-Mario Capo-Chichi,
Advertisements

Replication Stress Induces Genome-wide Copy Number Changes in Human Cells that Resemble Polymorphic and Pathogenic Variants Martin F. Arlt, Jennifer G.
Exome Sequencing and Functional Analysis Identifies BANF1 Mutation as the Cause of a Hereditary Progeroid Syndrome Xose S. Puente, Victor Quesada, Fernando.
Analysis of Kinetic Intermediates in Single-Particle Dwell-Time Distributions Daniel L. Floyd, Stephen C. Harrison, Antoine M. van Oijen Biophysical Journal.
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.
Genome-wide Single-Cell Analysis of Recombination Activity and De Novo Mutation Rates in Human Sperm Jianbin Wang, H. Christina Fan, Barry Behr, Stephen.
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.
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.
Mapping of a First Locus for Autosomal Dominant Myxomatous Mitral-Valve Prolapse to Chromosome 16p11.2-p12.1 Sandra Disse, Eric Abergel, Alain Berrebi,
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.
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,
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,
De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay Valerie A.
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.
National Guidelines for Nursing Delegation
Position of the American Dietetic Association, School Nutrition Association, and Society for Nutrition Education: Comprehensive School Nutrition Services 
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 
De Novo Mutations in FOXP1 in Cases with Intellectual Disability, Autism, and Language Impairment  Fadi F. Hamdan, Hussein Daoud, Daniel Rochefort, Amélie.
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
The Origin of Abnormalities in Recurrent Aneuploidy/Polyploidy
De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability 
Genetics, Individuality, and Medicine in the 21st Century*
The American Journal of Human Genetics 
XMCPDT Does Have Correct Type I Error Rates
GeneTests: Integrating Genetic Services into Patient Care*
Sang Hong Lee, Naomi R. Wray, Michael E. Goddard, Peter M. Visscher 
Value for Money? Array Genomic Hybridization for Diagnostic Testing for Genetic Causes of Intellectual Disability  Dean A. Regier, Jan M. Friedman, Carlo.
News & Notes Journal of Allergy and Clinical Immunology
Dan-Yu Lin, Zheng-Zheng Tang  The American Journal of Human Genetics 
The SNP Endgame: A Multidisciplinary Approach*
Yu Jiang, Yujun Han, Slavé Petrovski, Kouros Owzar, David B
Erratum The American Journal of Human Genetics
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 
Position of the American Dietetic Association: Vegetarian Diets
Discussion The Journal of Thoracic and Cardiovascular Surgery
SHANK1 Deletions in Males with Autism Spectrum Disorder
Journal of Investigative Dermatology
“The more things change…”: The challenges ahead
Detection and Integration of Genotyping Errors in Statistical Genetics
Alice S. Whittemore, Jerry Halpern 
Anna Middleton, J. Hewison, R.F. Mueller 
Hannah R. Elliott, David C. Samuels, James A. Eden, Caroline L
Zuoheng Wang, Mary Sara McPeek  The American Journal of Human Genetics 
Volume 3, Issue 5, Pages (November 2017)
Presentation transcript:

De Novo Mutations in FOXP1 in Cases with Intellectual Disability, Autism, and Language Impairment Fadi F. Hamdan, Hussein Daoud, Daniel Rochefort, Amélie Piton, Julie Gauthier, Mathieu Langlois, Gila Foomani, Sylvia Dobrzeniecka, Marie-Odile Krebs, Ridha Joober, Ronald G. Lafrenière, Jean-Claude Lacaille, Laurent Mottron, Pierre Drapeau, Miriam H. Beauchamp, Michael S. Phillips, Eric Fombonne, Guy A. Rouleau, Jacques L. Michaud The American Journal of Human Genetics Volume 87, Issue 5, Pages (November 2010) DOI: /j.ajhg Copyright © 2010 The American Society of Human Genetics Terms and Conditions Terms and Conditions

Figure 1 The American Journal of Human Genetics , DOI: ( /j.ajhg ) Copyright © 2010 The American Society of Human Genetics Terms and Conditions Terms and Conditions

Figure 2 The American Journal of Human Genetics , DOI: ( /j.ajhg ) Copyright © 2010 The American Society of Human Genetics Terms and Conditions Terms and Conditions

Feedback: Privacy Policy Feedback
Do Not Sell My Personal Information
About project: SlidePlayer Terms of Service

© 2025 SlidePlayer.com. Inc. All rights reserved.