Ngā hua rapu - Daniel Moreno‐De‐Luca

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  1. 1
    Autism genetics: opportunities and challenges for clinical translation

    Autism genetics: opportunities and challenges for clinical translation mā Jacob Vorstman, Jeremy Parr, Daniel Moreno‐De‐Luca, Richard Anney, John I. Nürnberger, Joachim Hallmayer

    I whakaputaina 2017
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  2. 2
    Clinical Genetic Testing in Autism Spectrum Disorder in a Large Community-Based Population Sample

    Clinical Genetic Testing in Autism Spectrum Disorder in a Large Community-Based Population Sample mā Daniel Moreno‐De‐Luca, Brian C. Kavanaugh, Carrie R. Best, Stephen J. Sheinkopf, Chanika Phornphutkul, Eric M. Morrow

    I whakaputaina 2020
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    Artigo
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  3. 3
    Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence

    Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence mā Andrés Moreno-De-Luca, Scott M. Myers, Thomas D. Challman, Daniel Moreno‐De‐Luca, David W. Evans, David H. Ledbetter

    I whakaputaina 2013
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  4. 4
    Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency

    Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency mā Christopher W. Carr, Daniel Moreno‐De‐Luca, Colette C. Parker, Holly H. Zimmerman, Nikki Ledbetter, Alastair J. Martin, William B. Dobyns, Omar Abdul‐Rahman

    I whakaputaina 2010
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    Artigo
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  5. 5
    Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts

    Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts mā 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

    I whakaputaina 2012
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  6. 6
    What Should a Psychiatrist Know About Genetics?

    What Should a Psychiatrist Know About Genetics? mā 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

    I whakaputaina 2018
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  7. 7
    Screening for Genomic Rearrangements and Methylation Abnormalities of the 15q11-q13 Region in Autism Spectrum Disorders

    Screening for Genomic Rearrangements and Methylation Abnormalities of the 15q11-q13 Region in Autism Spectrum Disorders mā 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

    I whakaputaina 2009
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    Artigo
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  8. 8
    A Genome-wide Association Study of Autism Using the Simons Simplex Collection: Does Reducing Phenotypic Heterogeneity in Autism Increase Genetic Homogeneity?

    A Genome-wide Association Study of Autism Using the Simons Simplex Collection: Does Reducing Phenotypic Heterogeneity in Autism Increase Genetic Homogeneity? mā 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

    I whakaputaina 2014
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  9. 9
    Loss of δ-catenin function in severe autism

    Loss of δ-catenin function in severe autism mā 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

    I whakaputaina 2015
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  10. 10
    Adjusting Head Circumference for Covariates in Autism: Clinical Correlates of a Highly Heritable Continuous Trait

    Adjusting Head Circumference for Covariates in Autism: Clinical Correlates of a Highly Heritable Continuous Trait mā 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

    I whakaputaina 2013
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    Artigo
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  11. 11
    Common genetic variants, acting additively, are a major source of risk for autism

    Common genetic variants, acting additively, are a major source of risk for autism mā 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

    I whakaputaina 2012
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  12. 12
    Autism Heterogeneity in a Densely Sampled U.S. Population: Results From the First 1,000 Participants in the RI‐CART Study

    Autism Heterogeneity in a Densely Sampled U.S. Population: Results From the First 1,000 Participants in the RI‐CART Study mā 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

    I whakaputaina 2020
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  13. 13
    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

    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 mā 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

    I whakaputaina 2014
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  14. 14
    An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities

    An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities mā 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

    I whakaputaina 2011
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  15. 15
    Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia

    Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia mā 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

    I whakaputaina 2010
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  16. 16
    Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci

    Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci mā 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

    I whakaputaina 2015
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  17. 17
    Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

    Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism mā 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

    I whakaputaina 2011
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  18. 18
    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

    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 mā 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

    I whakaputaina 2017
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