Suchergebnisse - Daniel Moreno‐De‐Luca
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Autism genetics: opportunities and challenges for clinical translation von Jacob Vorstman, Jeremy Parr, Daniel Moreno‐De‐Luca, Richard Anney, John I. Nürnberger, Joachim Hallmayer
Veröffentlicht 2017Revisão -
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Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency von Christopher W. Carr, Daniel Moreno‐De‐Luca, Colette C. Parker, Holly H. Zimmerman, Nikki Ledbetter, Alastair J. Martin, William B. Dobyns, Omar Abdul‐Rahman
Veröffentlicht 2010Artigo -
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Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts von Daniel Moreno‐De‐Luca, Stephan Sanders, A. Jeremy Willsey, Jennifer G. Mullé, Jennifer K. Lowe, Daniel H. Geschwind, Matthew W. State, Alastair J. Martin, D H Ledbetter
Veröffentlicht 2012Artigo -
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What Should a Psychiatrist Know About Genetics? von John I. Nürnberger, Jehannine Austin, Wade H. Berrettini, Aaron D. Besterman, Lynn E. DeLisi, Dorothy E. Grice, James L. Kennedy, Daniel Moreno‐De‐Luca, James B. Potash, David A. Ross, Thomas G. Schulze, Gwyneth Zai
Veröffentlicht 2018Revisão -
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Screening for Genomic Rearrangements and Methylation Abnormalities of the 15q11-q13 Region in Autism Spectrum Disorders von Christel Depienne, Daniel Moreno‐De‐Luca, Delphine Héron, Delphine Bouteiller, Aurélie Gennetier, Richard Delorme, Pauline Chaste, Jean‐Pierre Siffroi, Sandra Chantot‐Bastaraud, B Benyahia, Oriane Trouillard, Gudrun Nygren, Svenny Kopp, Maria Johansson, Maria Råstam, Lydie Bürglen, Eric Leguern, Alain Verloès, Marion Leboyer, Alexis Brice, Christopher Gillberg, Catalina Betancur
Veröffentlicht 2009Artigo -
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A Genome-wide Association Study of Autism Using the Simons Simplex Collection: Does Reducing Phenotypic Heterogeneity in Autism Increase Genetic Homogeneity? von Pauline Chaste, Lambertus Klei, Stephan Sanders, Vanessa Hus, Michael T. Murtha, Jennifer K. Lowe, A. Jeremy Willsey, Daniel Moreno‐De‐Luca, Timothy W. Yu, Éric Fombonne, Daniel H. Geschwind, Dorothy E. Grice, David H. Ledbetter, Shrikant Mane, Donna M. Martin, Eric M. Morrow, Christopher A. Walsh, James S. Sutcliffe, Christa Lese Martin, Arthur L. Beaudet, Catherine Lord, Matthew W. State, Edwin H. Cook, Bernie Devlin
Veröffentlicht 2014Artigo -
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Loss of δ-catenin function in severe autism von Tychele N. Turner, Kamal Sharma, Edwin C. Oh, Yangfan P. Liu, Ryan L. Collins, Maria X. Sosa, Dallas R. Auer, Harrison Brand, Stephan Sanders, Daniel Moreno‐De‐Luca, Vasyl Pihur, Teri M. Plona, Kristen Pike, Daniel Soppet, Michael W. Smith, Sau Wai Cheung, Christa Lese Martin, Matthew W. State, Michael E. Talkowski, Edwin H. Cook, Richard L. Huganir, Nicholas Katsanis, Aravinda Chakravarti
Veröffentlicht 2015Artigo -
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Adjusting Head Circumference for Covariates in Autism: Clinical Correlates of a Highly Heritable Continuous Trait von Pauline Chaste, Lambertus Klei, Stephan Sanders, Michael T. Murtha, Vanessa Hus, Jennifer K. Lowe, A. Jeremy Willsey, Daniel Moreno‐De‐Luca, Timothy W. Yu, Éric Fombonne, Daniel H. Geschwind, Dorothy E. Grice, David H. Ledbetter, Catherine Lord, Shrikant Mane, Alastair J. Martin, Donna M. Martin, Eric M. Morrow, Christopher A. Walsh, James S. Sutcliffe, Matthew W. State, Bernie Devlin, Edwin H. Cook, Soo‐Jeong Kim
Veröffentlicht 2013Artigo -
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Common genetic variants, acting additively, are a major source of risk for autism von Lambertus Klei, Stephan Sanders, Michael T. Murtha, Vanessa Hus, Jennifer K. Lowe, A. Jeremy Willsey, Daniel Moreno‐De‐Luca, Timothy W. Yu, Éric Fombonne, Daniel H. Geschwind, Dorothy E. Grice, David H. Ledbetter, Catherine Lord, Shrikant Mane, Alastair J. Martin, Donna M. Martin, Eric M. Morrow, Christopher A. Walsh, Nadine Melhem, Pauline Chaste, James S. Sutcliffe, Matthew W. State, Edwin H. Cook, Kathryn Roeder, Bernie Devlin
Veröffentlicht 2012Artigo -
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Autism Heterogeneity in a Densely Sampled U.S. Population: Results From the First 1,000 Participants in the RI‐CART Study von Carolyn E. B. McCormick, Brian C. Kavanaugh, Danielle Sipsock, Giulia Righi, Lindsay M. Oberman, Daniel Moreno‐De‐Luca, Ece D. Gamsiz Uzun, Carrie R. Best, Beth A. Jerskey, Joanne Quinn, Susan B. Jewel, Pei‐Chi Wu, Rebecca L. McLean, Todd P. Levine, Hasmik Tokadjian, Kayla A. Perkins, Elaine Clarke, Brittany Dunn, Alan S. Gerber, Elena J. Tenenbaum, Thomas F. Anders, Stephen J. Sheinkopf, Eric M. Morrow
Veröffentlicht 2020Artigo -
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Modest Impact on Risk for Autism Spectrum Disorder of Rare Copy Number Variants at 15<scp>q</scp>11.2, Specifically Breakpoints 1 to 2 von Pauline Chaste, Stephan Sanders, K. Naga Mohan, Lambertus Klei, Youeun Song, Michael T. Murtha, Vanessa Hus, Jennifer K. Lowe, A. Jeremy Willsey, Daniel Moreno‐De‐Luca, Timothy W. Yu, Éric Fombonne, Daniel H. Geschwind, Dorothy E. Grice, David H. Ledbetter, Catherine Lord, Shrikant Mane, Donna M. Martin, Eric M. Morrow, Christopher A. Walsh, James S. Sutcliffe, Matthew W. State, Alastair J. Martin, Bernie Devlin, Arthur L. Beaudet, Edwin H. Cook, Soo‐Jeong Kim
Veröffentlicht 2014Artigo -
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An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities von Erin B. Kaminsky, Vineith Kaul, Justin Paschall, Deanna M. Church, Brian Bunke, Dawn Kunig, Daniel Moreno‐De‐Luca, Andrés Moreno-De-Luca, Jennifer G. Mullé, Stephen T. Warren, Gabriele Richard, John G. Compton, Amy E Fuller, Troy J. Gliem, Shuwen Huang, Morag N. Collinson, Sarah J. Beal, Todd Ackley, Diane L. Pickering, Denae M. Golden, Emily Aston, Heidi Whitby, Shashirekha Shetty, Michael R. Rossi, M. Katharine Rudd, Sarah T. South, Arthur R. Brothman, Warren G. Sanger, Ramaswamy K. Iyer, John A. Crolla, Erik C. Thorland, Swaroop Aradhya, David H. Ledbetter, Alastair J. Martin
Veröffentlicht 2011Artigo -
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Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia von Daniel Moreno‐De‐Luca, Jennifer G. Mullé, Erin B. Kaminsky, Stephan Sanders, Scott M. Myers, Margaret P Adam, Amy T. Pakula, Nancy Eisenhauer, Kim Uhas, LuAnn Weik, Lisa Guy, Melanie Care, Chantal F. Morel, Charlotte Boni, Bonnie Anne Salbert, Ashadeep Chandrareddy, Laurie Demmer, Eva W. C. Chow, Urvashi Surti, Swaroop Aradhya, Diane L. Pickering, Denae M. Golden, Warren G. Sanger, Emily Aston, Arthur R. Brothman, Troy J. Gliem, Erik C. Thorland, Todd Ackley, Ram Iyer, Shuwen Huang, John Barber, John A. Crolla, Stephen T. Warren, Alastair J. Martin, David H. Ledbetter
Veröffentlicht 2010Artigo -
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Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci von Stephan Sanders, Xin He, A. Jeremy Willsey, A. Gulhan Ercan‐Sencicek, Kaitlin E. Samocha, A. Ercüment Çiçek, Michael T. Murtha, Vanessa H. Bal, Somer Bishop, Shan Dong, Arthur P. Goldberg, Jinlu Cai, John F. Keaney, Lambertus Klei, Jeffrey D. Mandell, Daniel Moreno‐De‐Luca, Christopher S. Poultney, Elise Robinson, Louw Smith, Tor Solli-Nowlan, Mack Y. Su, Nicole A. Teran, Michael F. Walker, Donna M. Werling, Arthur L. Beaudet, Rita M. Cantor, Éric Fombonne, Daniel H. Geschwind, Dorothy E. Grice, Catherine Lord, Jennifer K. Lowe, Shrikant Mane, Donna M. Martin, Eric M. Morrow, Michael E. Talkowski, James S. Sutcliffe, Christopher A. Walsh, Timothy W. Yu, David H. Ledbetter, Christa Lese Martin, Edwin H. Cook, Joseph D. Buxbaum, Mark J. Daly, Bernie Devlin, Kathryn Roeder, Matthew W. State
Veröffentlicht 2015Artigo -
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Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism von Stephan Sanders, A. Gulhan Ercan‐Sencicek, Vanessa Hus, Rui Luo, Michael T. Murtha, Daniel Moreno‐De‐Luca, Su H. Chu, Michael Moreau, Abha R. Gupta, Susanne Thomson, Christopher E. Mason, Kaya Bilgüvar, Patrícia B. S. Celestino-Soper, Murim Choi, Emily L. Crawford, Lea K. Davis, Nicole R. Davis Wright, Rahul M. Dhodapkar, Michael DiCola, Nicholas M. DiLullo, Thomas Fernandez, Vikram Fielding‐Singh, Daniel O. Fishman, Stephanie Frahm, Rouben Garagaloyan, Gerald Goh, Sindhuja Kammela, Lambertus Klei, Jennifer K. Lowe, Sabata C. Lund, Anna D. McGrew, Kyle A. Meyer, William J. Moffat, John D. Murdoch, Brian J. O’Roak, G Ober, Rebecca S. Pottenger, Melanie J. Raubeson, Youeun Song, Qi Wang, Brian L. Yaspan, Timothy W. Yu, Ilana R. Yurkiewicz, Arthur L. Beaudet, Rita M. Cantor, Martin Curland, Dorothy E. Grice, Murat Günel, Richard P. Lifton, Shrikant Mane, Donna M. Martin, Chad A. Shaw, Michael Sheldon, Jay A. Tischfield, Christopher A. Walsh, Eric M. Morrow, David H. Ledbetter, Éric Fombonne, Catherine Lord, Christa Lese Martin, Andrew I. Brooks, James S. Sutcliffe, Edwin H. Cook, Daniel H. Geschwind, Kathryn Roeder, Bernie Devlin, Matthew W. State
Veröffentlicht 2011Artigo -
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Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia von Richard Anney, Stephan Ripke, Verneri Anttila, Jakob Grove, Peter Holmans, Aiden Corvin, Lambertus Klei, Phil H. Lee, Sarah E. Medland, Benjamin M. Neale, Elise Robinson, Lauren A. Weiss, Lonnie Zwaigenbaum, Timothy W. Yu, Kerstin Wittemeyer, A. Jeremy Willsey, Ellen M. Wijsman, Thomas Werge, Thomas H. Wassink, Regina Waltes, Christopher A. Walsh, Simon Wallace, Jacob Vorstman, Veronica J. Vieland, Astrid M. Vicente, Herman Vanengeland, Kathryn Tsang, Ann Thompson, Peter Szatmari, Oscar Svantesson, Stacy Steinberg, Kāri Stefánsson, Hreinn Stefánsson, Matthew W. State, Latha Soorya, Teimuraz Silagadze, Stephen W. Scherer, Gerard D. Schellenberg, Sven Sandin, Stephan Sanders, Evald Sæmundsen, Guy A. Rouleau, Bernadette Rogé, Kathryn Roeder, Wendy Roberts, Jennifer Reichert, Abraham Reichenberg, Karola Rehnström, Regina Regan, Fritz Poustka, Christopher S. Poultney, Joseph Piven, Dalila Pinto, Margaret A. Pericak‐Vance, Milica Pejović-Milovančević, Marianne Giørtz Pedersen, Carsten Bøcker Pedersen, Andrew D. Paterson, Jeremy Parr, Alistair T. Pagnamenta, Guiomar Oliveira, John I. Nürnberger, Merete Nordentoft, Michael T. Murtha, Susana Mouga, Preben Bo Mortensen, Ole Mors, Eric M. Morrow, Daniel Moreno‐De‐Luca, Anthony P. Monaco, Nancy J. Minshew, Alison Merikangas, William M. McMahon, Susan G. McGrew, Jouko Lönnqvist, Igor Martsenkovsky, Donna M. Martin, Shrikant Mane, Páll Magnússon, Tiago R. Magalhães, Elena Maestrini, Jennifer K. Lowe, Catherine Lord, Pat Levitt, Christa Lese Martin, David H. Ledbetter, Marion Leboyer, Ann S. LeCouteur, Christine Ladd‐Acosta, Alexander Kolevzon, Sabine M. Klauck, Suma Jacob, Bozenna Iliadou, Christina M. Hultman, David M. Hougaard, Irva Hertz‐Picciotto, Robert L. Hendren, Christine Søholm Hansen, Jonathan L. Haines, Stephen J. Guter
Veröffentlicht 2017Revisão
Suchwerkzeuge:
Ähnliche Schlagworte
Autism
Biology
Gene
Genetics
Psychology
Medicine
Psychiatry
Autism spectrum disorder
Genome
Mutation
Phenotype
Copy-number variation
Developmental psychology
Environmental health
Genotype
Population
Proband
Single-nucleotide polymorphism
Computational biology
Exome sequencing
Gene expression
Intellectual disability
Penetrance
Schizophrenia (object-oriented programming)
Autism Diagnostic Observation Schedule
Bioinformatics
Clinical psychology
Cognition
Computer science
Demography