نتائج البحث - Jonathan Picker

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  1. 1
    Familial deletion within NLGN4 associated with autism and Tourette syndrome

    Familial deletion within NLGN4 associated with autism and Tourette syndrome حسب Amy Lawson‐Yuen, Juan‐Sebastian Saldivar, Steve S. Sommer, Jonathan Picker

    منشور في 2008
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    Artigo
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  2. 2
    Transcranial magnetic stimulation provides means to assess cortical plasticity and excitability in humans with fragile X syndrome and autism spectrum disorder

    Transcranial magnetic stimulation provides means to assess cortical plasticity and excitability in humans with fragile X syndrome and autism spectrum disorder حسب Lindsay M. Oberman, Frederick Ifert-Miller, Umer Najib, Shahid Bashir, Ione Woollacott, Joseph Gonzalez‐Heydrich, Jonathan Picker, Jonathan Picker, Alexander Rotenberg, Alexander Rotenberg, Álvaro Pascual‐Leone

    منشور في 2010
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    Artigo
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  3. 3
    A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene

    A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene حسب Lance H. Rodan, Julie S. Cohen, Ali Fatemi, Tammy Gillis, Diane Lucente, James F. Gusella, Jonathan Picker

    منشور في 2016
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  4. 4
    Ube3a mRNA and protein expression are not decreased in Mecp2 mutant mice

    Ube3a mRNA and protein expression are not decreased in Mecp2 mutant mice حسب Amy Lawson‐Yuen, Daniel Liu, Liqun Han, Zhichun Jiang, Guochuan Tsai, Alo C. Basu, Jonathan Picker, Jiamin Feng, Joseph T. Coyle

    منشور في 2007
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  5. 5
    Abnormal Mechanisms of Plasticity and Metaplasticity in Autism Spectrum Disorders and Fragile X Syndrome

    Abnormal Mechanisms of Plasticity and Metaplasticity in Autism Spectrum Disorders and Fragile X Syndrome حسب Lindsay M. Oberman, Fritz Ifert‐Miller, Umer Najib, Shahid Bashir, Joseph Gonzalez‐Heydrich, Jonathan Picker, Alexander Rotenberg, Álvaro Pascual‐Leone

    منشور في 2016
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  6. 6
    Advances in the Treatment of Fragile X Syndrome

    Advances in the Treatment of Fragile X Syndrome حسب Randi J. Hagerman, Elizabeth Berry‐Kravis, Walter E. Kaufmann, Michele Ono, Nicole Tartaglia, Ave M. Lachiewicz, Rebecca Kronk, Carol Delahunty, David Hessl, Jeannie Visootsak, Jonathan Picker, Louise W. Gane, Michael R. Tranfaglia

    منشور في 2008
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    Revisão
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  7. 7
    <i>BRAT1</i> mutations present with a spectrum of clinical severity

    <i>BRAT1</i> mutations present with a spectrum of clinical severity حسب Siddharth Srivastava, Heather E. Olson, Julie S. Cohen, Cynthia S. Gubbels, Sharyn A. Lincoln, Brigette Tippin Davis, Layla Shahmirzadi, Siddharth Gupta, Jonathan Picker, Timothy W. Yu, David T. Miller, Janet S. Soul, Andrea Poretti, SakkuBai Naidu

    منشور في 2016
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  8. 8
    Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes

    Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes حسب Brittany N. Whitley, Christina Lam, Hong Cui, Katrina Haude, Renkui Bai, Luis Escobar, Afifa Hamilton, Lauren Brady, Mark A. Tarnopolsky, Lauren Dengle, Jonathan Picker, Sharyn A. Lincoln, Laura L. Lackner, Ian Glass, Suzanne Hoppins

    منشور في 2018
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  9. 9
    Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield

    Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield حسب Juan Geng, Jonathan Picker, Zhaojing Zheng, Xiaoqing Zhang, Jian Wang, Fuki M. Hisama, David W. Brown, Mary P. Mullen, David J. Harris, Joan M. Stoler, Ann Seman, David T. Miller, Qihua Fu, Amy E. Roberts, Yiping Shen

    منشور في 2014
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  10. 10
    Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes

    Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes حسب Zhishuo Ou, Jonathan S. Berg, Hagith Yonath, Victoria B. Enciso, David T. Miller, Jonathan Picker, Tiffanee Lenzi, Catherine E. Keegan, V. Reid Sutton, John W. Belmont, A. Craig Chinault, James R. Lupski, Sau Wai Cheung, Elizabeth Roeder, Ankita Patel

    منشور في 2008
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  11. 11
    Clinical Diagnosis by Whole-Genome Sequencing of a Prenatal Sample

    Clinical Diagnosis by Whole-Genome Sequencing of a Prenatal Sample حسب Michael E. Talkowski, Zehra Ordulu, Vamsee Pillalamarri, Carol B. Benson, Ian Blumenthal, Susan A. Connolly, Carrie Hanscom, Naveed Hussain, Shahrin Pereira, Jonathan Picker, Jill A. Rosenfeld, Lisa G. Shaffer, Louise Wilkins‐Haug, James F. Gusella, Cynthia C. Morton

    منشور في 2012
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  12. 12
    Homozygous <i>PLCB1</i> deletion associated with malignant migrating partial seizures in infancy

    Homozygous <i>PLCB1</i> deletion associated with malignant migrating partial seizures in infancy حسب Annapurna Poduri, Sameer S. Chopra, Edward Neilan, Princess C. Elhosary, Manju A. Kurian, Esther Meyer, Brenda J. Barry, Omar Khwaja, Mustafa A. Salih, Tommy Stödberg, Ingrid E. Scheffer, Eamonn R. Maher, Mustafa Şahin, Bai‐Lin Wu, Gerard T. Berry, Christopher A. Walsh, Jonathan Picker, Sanjeev V. Kothare

    منشور في 2012
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  13. 13
    Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes

    Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes حسب Klaus Schmitz‐Abe, Qifei Li, Samantha M. Rosen, Neeharika Nori, Jill A. Madden, Casie A. Genetti, Monica H. Wojcik, Sadhana Ponnaluri, Cynthia S. Gubbels, Jonathan Picker, Anne O’Donnell‐Luria, Timothy W. Yu, Olaf A. Bodamer, Catherine A. Brownstein, Alan H. Beggs, Pankaj B. Agrawal

    منشور في 2019
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  14. 14
    Deletions of <i>NRXN1</i> (neurexin‐1) predispose to a wide spectrum of developmental disorders

    Deletions of <i>NRXN1</i> (neurexin‐1) predispose to a wide spectrum of developmental disorders حسب Michael S. Ching, Yiping Shen, Wen‐Hann Tan, Shafali Jeste, Eric M. Morrow, Xiaoli Chen, Nahit Motavallı Mukaddes, Seung‐Yun Yoo, Ellen Hanson, Rachel J. Hundley, Christina L. Austin, Ronald E. Becker, Gerard T. Berry, Katherine Driscoll, Elizabeth C. Engle, Sandra Friedman, James F. Gusella, Fuki M. Hisama, Mira Irons, Tina Lafiosca, Elaine LeClair, David T. Miller, Michael Neessen, Jonathan Picker, Leonard Rappaport, Cynthia M. Rooney, Dean Sarco, Joan M. Stoler, Christopher A. Walsh, Robert R. Wolff, Ting Zhang, Ramzi H. Nasir, Bai‐Lin Wu

    منشور في 2010
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  15. 15
    Clinical Genetic Testing for Patients With Autism Spectrum Disorders

    Clinical Genetic Testing for Patients With Autism Spectrum Disorders حسب Yiping Shen, Kira A. Dies, Ingrid A. Holm, Carolyn Bridgemohan, Magdi M. Sobeih, Elizabeth Caronna, Karen J. Miller, Jean A. Frazier, Iris Silverstein, Jonathan Picker, Laura Weissman, Peter Raffalli, Shafali Jeste, Laurie Demmer, Heather Peters, Stephanie J. Brewster, Sara J. Kowalczyk, Beth Rosen‐Sheidley, Caroline McGowan, Andrew W. Duda, Sharyn A. Lincoln, Kathryn Lowe, Alison Schonwald, Michael Robbins, Fuki M. Hisama, Robert R. Wolff, Ronald E. Becker, Ramzi Nasir, David K. Urion, Jeff M. Milunsky, Leonard Rappaport, James F. Gusella, Christopher A. Walsh, Bai-Lin Wu, David T. Miller

    منشور في 2010
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  16. 16
    <i>De Novo</i>Heterozygous Mutations in<i>SMC3</i>Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes

    <i>De Novo</i>Heterozygous Mutations in<i>SMC3</i>Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes حسب María Concepción Gil‐Rodríguez, Matthew A. Deardorff, Morad Ansari, Christopher Tan, Ilaria Parenti, Carolina Baquero‐Montoya, Lilian Bomme Ousager, Beatriz Puisac, María Hernández-Marcos, Maria Esperanza Teresa‐Rodrigo, Íñigo Marcos‐Alcalde, Jan-Jaap Wesselink, Silvia Lusa-Bernal, Emilia K. Bijlsma, Diana Braunholz, Inés Bueno-Martínez, Dinah Clark, Nicola Cooper, Cynthia J. Curry, Richard Fisher, Alan Fryer, Jaya Ganesh, Cristina Gervasini, Gabriele Gillessen‐Kaesbach, Yiran Guo, Hákon Hákonarson, Robert J. Hopkin, Maninder Kaur, Brendan J. Keating, Maria Kibæk, Esther Kinning, Tjitske Kleefstra, Antonie D. Kline, Ekaterina Kuchinskaya, Lidia Larizza, Leslie A. Lange, Xuanzhu Liu, Milena Mariani, Jonathan Picker, Ángeles Pié, Jelena Pozojevic, Ethel Queralt, Julie Richer, Elizabeth Roeder, Anubha Sinha, Richard H. Scott, Joyce So, Katherine Wusik, Louise C. Wilson, Jianguo Zhang, Paulino Gómez‐Puertas, César H. Casale, Lena Ström, Angelo Selicorni, Feliciano J. Ramos, Laird G. Jackson, Ian D. Krantz, Soma Das, Raoul C. M. Hennekam, Frank J. Kaiser, David Fitzpatrick, Juan Pié

    منشور في 2015
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  17. 17
    Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome

    Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome حسب Sarah Stephenson, Gregory Costain, Laura E.R. Blok, Michael Silk, Thanh Nguyen, Xiaomin Dong, Dana E. Alhuzaimi, James J. Dowling, Susan Walker, Kimberly Amburgey, Robin Z. Hayeems, Lance H. Rodan, Marc A. Schwartz, Jonathan Picker, Sally Ann Lynch, Aditi Gupta, Kristen Rasmussen, Lisa A. Schimmenti, Eric W. Klee, Zhiyv Niu, Katherine Agre, Ilana Chilton, Wendy K. Chung, Anya Revah‐Politi, Ping Yee Billie Au, Christopher Griffith, Melissa Racobaldo, Annick Raas‐Rothschild, Bruria Ben Zeev, Ortal Barel, Sébastien Moutton, Fanny Morice‐Picard, Virginie Carmignac, Jenny Cornaton, Nathalie Marle, Orrin Devinsky, Chandler L. Stimach, Stephanie Burns Wechsler, Bryan E. Hainline, Katie Sapp, Marjolaine Willems, Ange‐Line Bruel, Kerith‐Rae Dias, Carey‐Anne Evans, Tony Roscioli, Rani Sachdev, Suzanna E.L. Temple, Ying Zhu, Joshua Baker, Ingrid E. Scheffer, Fiona Gardiner, Amy L. Schneider, Alison M. Muir, Heather C Mefford, Amy Crunk, Elizabeth M. Heise, Francisca Millan, Kristin G. Monaghan, Richard Person, Lindsay Rhodes, Sarah Richards, Ingrid M. Wentzensen, Benjamin Cogné, Bertrand Isidor, Mathilde Nizon, Marie Vincent, Thomas Besnard, Amélie Piton, Carlo Marcelis, Kohji Kato, Norihisa Koyama, Tomoo Ogi, Elaine Goh, Christopher M. Richmond, David J. Amor, Jessica O. Boyce, Angela Morgan, Michael S. Hildebrand, Antony Kaspi, Melanie Bahlo, Rún Friðriksdóttir, Hildigunnur Katrínardóttir, Patrick Sulem, Kāri Stefánsson, Hans T. Björnsson, Simone Mandelstam, Manuela Morleo, Milena Mariani, Marcello Scala, Andrea Accogli, Annalaura Torella, Valeria Capra, Mathew Wallis, Sandra Jansen, Quinten Waisfisz, Hugoline G. de Haan, Simon Sadedin, Sze Chern Lim, Susan M. White, David B. Ascher

    منشور في 2022
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