Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems Anneke T. Vulto-van Silfhout,

Slides:

Advertisements

Similar presentations

Exome Sequencing and cis-Regulatory Mapping Identify Mutations in MAK, a Gene Encoding a Regulator of Ciliary Length, as a Cause of Retinitis Pigmentosa.

Advertisements

Disruption of the Basal Body Protein POC1B Results in Autosomal-Recessive Cone- Rod Dystrophy Susanne Roosing, Ideke J.C. Lamers, Erik de Vrieze, L. Ingeborgh.

Mutations in DDHD2, Encoding an Intracellular Phospholipase A1, Cause a Recessive Form of Complex Hereditary Spastic Paraplegia Janneke H.M. Schuurs-Hoeijmakers,

De Novo Facioscapulohumeral Muscular Dystrophy: Frequent Somatic Mosaicism, Sex- Dependent Phenotype, and the Role of Mitotic Transchromosomal Repeat Interaction.

Disruption of an EHMT1-Associated Chromatin-Modification Module Causes Intellectual Disability Tjitske Kleefstra, Jamie M. Kramer, Kornelia Neveling, Marjolein.

Mutations in MED12 Cause X-Linked Ohdo Syndrome Anneke T. Vulto-van Silfhout, Bert B.A. de Vries, Bregje W.M. van Bon, Alexander Hoischen, Martina Ruiterkamp-Versteeg,

Leber Congenital Amaurosis and Retinitis Pigmentosa with Coats-like Exudative Vasculopathy Are Associated with Mutations in the Crumbs Homologue 1 (CRB1)

Basal Laminar Drusen Caused by Compound Heterozygous Variants in the CFH Gene Camiel J.F. Boon, B. Jeroen Klevering, Carel B. Hoyng, Marijke N. Zonneveld-Vrieling,

ZNF674: A New Krüppel-Associated Box–Containing Zinc-Finger Gene Involved in Nonsyndromic X-Linked Mental Retardation Dorien Lugtenberg, Helger G. Yntema,

OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin Karlien L.M. Coene, Ronald Roepman, Dan Doherty, Bushra Afroze,

Novel PMS2 Pseudogenes Can Conceal Recessive Mutations Causing a Distinctive Childhood Cancer Syndrome Michel De Vos, Bruce E. Hayward, Susan Picton, Eamonn.

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

Noninvasive Test for Fragile X Syndrome, Using Hair Root Analysis Rob Willemsen, Burcu Anar, Yolanda De Diego Otero, Bert B.A. de Vries, Yvonne Hilhorst-Hofstee,

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.

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.

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

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.

The Duty to Recontact: Attitudes of Genetics Service Providers Jennifer L. Fitzpatrick, Cecil Hahn, Teresa Costa, Marlene J. Huggins The American Journal.

Design and Multiseries Validation of a Web-Based Gene Expression Assay for Predicting Breast Cancer Recurrence and Patient Survival Ryan K. Van Laar The.

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

Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome Janneke H.M.

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

Gemma L. Carvill, Jacinta M

Transmission/Disequilibrium Tests for Extended Marker Haplotypes

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

Recurrent CNVs Disrupt Three Candidate Genes in Schizophrenia Patients

Ilse Feenstra, Lisenka E. L. M. Vissers, Ronald J. E

NR2F1 Mutations Cause Optic Atrophy with Intellectual Disability

Diagnostic Genome Profiling in Mental Retardation

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

Linkage Thresholds for Two-stage Genome Scans

Factor H Mutations in Hemolytic Uremic Syndrome Cluster in Exons 18–20, a Domain Important for Host Cell Recognition Anna Richards, Mark R. Buddles,

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

Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems Anneke T. Vulto-van Silfhout,

The American Journal of Human Genetics

Predictors of the Risk of Mortality in Neurofibromatosis 2

GeneTests: Integrating Genetic Services into Patient Care*

DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal- Dominant Robinow Syndrome Janson White, Juliana F. Mazzeu, Alexander Hoischen,

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

Christian Gilissen, Heleen H

Cantú Syndrome Is Caused by Mutations in ABCC9

Mutations in MED12 Cause X-Linked Ohdo Syndrome

The SNP Endgame: A Multidisciplinary Approach*

Erratum The American Journal of Human Genetics

De Novo Mutations of the Gene Encoding the Histone Acetyltransferase KAT6B Cause Genitopatellar Syndrome Michael A. Simpson, Charu Deshpande, Dimitra.

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

DVL3 Alleles Resulting in a −1 Frameshift of the Last Exon Mediate Autosomal- Dominant Robinow Syndrome Janson J. White, Juliana F. Mazzeu, Alexander.

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

Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes Stefan H. Lelieveld, Laurens Wiel,

Alexander Liede, Imtiaz A

Discussion The Journal of Thoracic and Cardiovascular Surgery

Mutations in DDHD2, Encoding an Intracellular Phospholipase A1, Cause a Recessive Form of Complex Hereditary Spastic Paraplegia Janneke H.M. Schuurs-Hoeijmakers,

Alice S. Whittemore, Jerry Halpern

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

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

Arts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1

Edward Y. Chan, MD, Michael J. Reardon, MD

Presentation transcript:

Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems Anneke T. Vulto-van Silfhout, Shivakumar Rajamanickam, Philip J. Jensik, Sarah Vergult, Nina de Rocker, Kathryn J. Newhall, Ramya Raghavan, Sara N. Reardon, Kelsey Jarrett, Tara McIntyre, Joseph Bulinski, Stacy L. Ownby, Jodi I. Huggenvik, G. Stanley McKnight, Gregory M. Rose, Xiang Cai, Andy Willaert, Christiane Zweier, Sabine Endele, Joep de Ligt, Bregje W.M. van Bon, Dorien Lugtenberg, Petra F. de Vries, Joris A. Veltman, Hans van Bokhoven, Han G. Brunner, Anita Rauch, Arjan P.M. de Brouwer, Gemma L. Carvill, Alexander Hoischen, Heather C. Mefford, Evan E. Eichler, Lisenka E.L.M. Vissers, Björn Menten, Michael W. Collard, Bert B.A. de Vries The American Journal of Human Genetics Volume 94, Issue 5, Pages (May 2014) DOI: /j.ajhg Copyright © 2014 The American Society of Human Genetics Terms and Conditions Terms and Conditions

Figure 1 The American Journal of Human Genetics , DOI: ( /j.ajhg ) Copyright © 2014 The American Society of Human Genetics Terms and Conditions Terms and Conditions

Figure 2 The American Journal of Human Genetics , DOI: ( /j.ajhg ) Copyright © 2014 The American Society of Human Genetics Terms and Conditions Terms and Conditions

Figure 3 The American Journal of Human Genetics , DOI: ( /j.ajhg ) Copyright © 2014 The American Society of Human Genetics Terms and Conditions Terms and Conditions

Figure 4 The American Journal of Human Genetics , DOI: ( /j.ajhg ) Copyright © 2014 The American Society of Human Genetics Terms and Conditions Terms and Conditions