Résultats de la recherche - Madelyn A. Gillentine

  • Résultat(s) 1 - 12 résultats de 12
Affiner les résultats
  1. 1
    The human clinical phenotypes of altered CHRNA7 copy number

    The human clinical phenotypes of altered CHRNA7 copy number par Madelyn A. Gillentine, Christian P. Schaaf

    Publié 2015
    Accéder au texte intégral
    Revisão
    Ajouter aux favoris
    Enregistré dans:
  2. 2
    An estimation of the prevalence of genomic disorders using chromosomal microarray data

    An estimation of the prevalence of genomic disorders using chromosomal microarray data par Madelyn A. Gillentine, Philip J. Lupo, Paweł Stankiewicz, Christian P. Schaaf

    Publié 2018
    Accéder au texte intégral
    Artigo
    Ajouter aux favoris
    Enregistré dans:
  3. 3
    Functional Consequences of CHRNA7 Copy-Number Alterations in Induced Pluripotent Stem Cells and Neural Progenitor Cells

    Functional Consequences of CHRNA7 Copy-Number Alterations in Induced Pluripotent Stem Cells and Neural Progenitor Cells par Madelyn A. Gillentine, Jiani Yin, Aleksandar Bajić, Ping Zhang, Steven E. Cummock, Ji‐Eun Kim, Christian P. Schaaf

    Publié 2017
    Accéder au texte intégral Accéder au texte intégral
    Artigo
    Ajouter aux favoris
    Enregistré dans:
  4. 4
    Concordance of whole-genome long-read sequencing with standard clinical testing for Prader-Willi and Angelman syndromes

    Concordance of whole-genome long-read sequencing with standard clinical testing for Prader-Willi and Angelman syndromes par Cate Paschal, Miranda Galey, Anita Beck, Madelyn A. Gillentine, Jaya Narayanan, Nikhita Damaraju, Joy Goffena, Sophie Storz, Danny E. Miller

    Publié 2025
    Accéder au texte intégral
    Artigo
    Ajouter aux favoris
    Enregistré dans:
  5. 5
    Expanding the Phenotypic Spectrum of <scp>HNRNPU</scp>‐Related Disorder, Documenting the First Familial Presentation and Comprehensive Review

    Expanding the Phenotypic Spectrum of <scp>HNRNPU</scp>‐Related Disorder, Documenting the First Familial Presentation and Comprehensive Review par Ailie Hodgson, L. Baxandall, D. Aiyedun, Andrew Li, Ping Yee Billie Au, Jennifer Bain, Madelyn A. Gillentine, Himanshu Goel, Antonie D. Kline, Christopher Ricupero, Rocío Sánchez‐Carpintero, Elizabeth P. Seward, Richard Sidlow, Stuart A. Wilson, Meena Balasubramanian

    Publié 2025
    Accéder au texte intégral
    Revisão
    Ajouter aux favoris
    Enregistré dans:
  6. 6
    NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation

    NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation par Vincenzo A. Gennarino, Callison E Alcott, Chun‐An Chen, Arindam Chaudhury, Madelyn A. Gillentine, Jill A. Rosenfeld, Sumit Parikh, James W. Wheless, Elizabeth Roeder, Dafne D. G. Horovitz, Erin K. Roney, Janice Smith, Sau Wai Cheung, Wei Li, Joel R. Neilson, Christian P. Schaaf, Huda Y. Zoghbi

    Publié 2015
    Accéder au texte intégral
    Artigo
    Ajouter aux favoris
    Enregistré dans:
  7. 7
    The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications

    The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications par Madelyn A. Gillentine, Leandra N. Berry, Robin P. Goin‐Kochel, M. A. Ali, Jun Ge, Danielle Guffey, Jill A. Rosenfeld, Vickie Hannig, Patricia I. Bader, Monica B. Proud, Marwan Shinawi, Brett H. Graham, Angela E. Lin, Seema R. Lalani, Joanna Reynolds, M. Chen, Theresa A. Grebe, Charles G. Minard, Paweł Stankiewicz, Arthur L. Beaudet, Christian P. Schaaf

    Publié 2016
    Accéder au texte intégral
    Artigo
    Ajouter aux favoris
    Enregistré dans:
  8. 8
    Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

    Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders par Hui Guo, Elisa Bettella, Paul C. Marcogliese, Rongjuan Zhao, Jonathan C. Andrews, Tomasz J. Nowakowski, Madelyn A. Gillentine, Kendra Hoekzema, Tianyun Wang, Huidan Wu, Sharayu Jangam, Cenying Liu, Hailun Ni, Marjolein H. Willemsen, Bregje W.M. van Bon, Tuula Rinne, Servi J.C. Stevens, Tjitske Kleefstra, Han G. Brunner, Helger G. Yntema, Long Min, Wenjing Zhao, Zhengmao Hu, Cindy Colson, Nicolas Richard, Charles E. Schwartz, Corrado Romano, Lucia Castiglia, Maria Bottitta, Shweta U. Dhar, Deanna Erwin, Lisa Emrick, Boris Keren, Alexandra Afenjar, Baosheng Zhu, Bing Bai, Paweł Stankiewicz, Kristin Herman, Saadet Mercimek‐Andrews, Jane Juusola, Amy Wilfert, Rami Abou Jamra, Benjamin Büttner, Heather C. Mefford, Alison M. Muir, Ingrid E. Scheffer, Brigid M. Regan, Stephen Malone, Jozef Gécz, Jan Cobben, Marjan M. Weiss, Quinten Waisfisz, Emilia Bijlsma, Mariette J. V. Hoffer, Claudia Ruivenkamp, Stefano Sartori, Fan Xia, Jill Rosenfeld, Raphael Bernier, Michael F. Wangler, Shinya Yamamoto, Kun Xia, Alexander P.A. Stegmann, Hugo J. Bellen, Alessandra Murgia, Evan E. Eichler

    Publié 2019
    Accéder au texte intégral Accéder au texte intégral
    Artigo
    Ajouter aux favoris
    Enregistré dans:
  9. 9
    Disruptive variants of <i>CSDE1</i> associate with autism and interfere with neuronal development and synaptic transmission

    Disruptive variants of <i>CSDE1</i> associate with autism and interfere with neuronal development and synaptic transmission par Hui Guo, Ying Li, Lu Shen, Tianyun Wang, Xiangbin Jia, Lijuan Liu, Tao Xu, Mengzhu Ou, Kendra Hoekzema, Huidan Wu, Madelyn A. Gillentine, Cenying Liu, Hailun Ni, Pengwei Peng, Rongjuan Zhao, Yu Zhang, Chanika Phornphutkul, Alexander P.A. Stegmann, Carlos E. Prada, Robert J. Hopkin, Joseph T.C. Shieh, Kirsty McWalter, Kristin G. Monaghan, Peter M. van Hasselt, Koen L.I. van Gassen, Ting Bai, Long Min, Lin Han, Yingting Quan, Meilin Chen, Yaowen Zhang, Kuokuo Li, Qiumeng Zhang, Jieqiong Tan, Tengfei Zhu, Yaning Liu, Nan Pang, Jing Peng, Daryl A. Scott, Seema R. Lalani, Mahshid S. Azamian, Grazia M.S. Mancini, Darius J. Adams, Malin Kvarnung, Anna Lindstrand, Ann Nordgren, Jonathan Pevsner, Ikeoluwa Osei‐Owusu, Corrado Romano, Giuseppe Calabrese, Ornella Galesi, Jozef Gécz, Eric Haan, Judith D. Ranells, Melissa Racobaldo, Magnus Nordenskjöld, Suneeta Madan‐Khetarpal, Jessica Sebastian, Susie Ball, Xiaobing Zou, Jingping Zhao, Zhengmao Hu, Fan Xia, Pengfei Liu, Jill A. Rosenfeld, Bert B.A. de Vries, Raphael Bernier, Qing Xu, Honghui Li, Wei Xie, Robert B. Hufnagel, Evan E. Eichler, Kun Xia

    Publié 2019
    Accéder au texte intégral Accéder au texte intégral
    Artigo
    Ajouter aux favoris
    Enregistré dans:
  10. 10
    Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

    Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders par Madelyn A. Gillentine, Tianyun Wang, Kendra Hoekzema, Jill A. Rosenfeld, Pengfei Liu, Hui Guo, Chang N. Kim, Bert B. A. De Vries, Lisenka E.L.M. Vissers, Magnus Nordenskjöld, Malin Kvarnung, Anna Lindstrand, Ann Nordgren, Jozef Gécz, Maria Iascone, Anna Cereda, Agnese Scatigno, Silvia Maitz, Ginevra Zanni, Enrico Bertini, Christiane Zweier, Sarah Schuhmann, Antje Wiesener, Micah Pepper, Heena Panjwani, Erin Torti, Farida Abid, Irina Anselm, Siddharth Srivastava, Paldeep S. Atwal, Carlos A. Bacino, Gifty Bhat, Katherine Cobian, Lynne M. Bird, Jennifer Friedman, Meredith S. Wright, Bert Callewaert, Florence Petit, Sophie Mathieu, Alexandra Afenjar, Celanie K. Christensen, Kerry White, Orly Elpeleg, Itai Berger, Edward J. Espineli, Christina Fagerberg, Charlotte Brasch‐Andersen, Lars Kjærsgaard Hansen, Timothy Feyma, Susan Hughes, Isabelle Thiffault, Bonnie Sullivan, Shuang Yan, Kory Keller, Boris Keren, Cyril Mignot, R. Frank Kooy, Marije Meuwissen, Alice Basinger, Mary K. Kukolich, Meredith Philips, Lucia Ortega, Margaret Drummond‐Borg, Mathilde Lauridsen, Kristina Sorensen, Anna Lehman, Elena Lopez‐Rangel, Paul A. Levy, Davor Lessel, Timothy Lotze, Suneeta Madan-Khetarpal, Jessica Sebastian, Jodie M. Vento, Divya Vats, L. Manace Benman, Shane McKee, Ghayda Mirzaa, Candace Muss, John Pappas, Hilde Peeters, Corrado Romano, Maurizio Elia, Ornella Galesi, Marleen Simon, Koen L.I. van Gassen, Kara Simpson, Robert F. Stratton, Shakir Syed, Julien Thévenon, Irene Valenzuela, Antonio Vitobello, Marie Bournez, Laurence Faivre, Kun Xia, John Acampado, J. Andrea, Alpha Amatya, Irina Astrovskaya, Asif Bashar, Elizabeth Brooks

    Publié 2021
    Accéder au texte intégral Accéder au texte intégral
    Artigo
    Ajouter aux favoris
    Enregistré dans:
  11. 11
    Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

    Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders par Tianyun Wang, Kendra Hoekzema, Davide Vecchio, Huidan Wu, Arvis Sulovari, Bradley P. Coe, Madelyn A. Gillentine, Amy B. Wilfert, Luis A. Pérez‐Jurado, Malin Kvarnung, Yoeri Sleyp, Rachel K. Earl, Jill A. Rosenfeld, Madeleine R. Geisheker, Lin Han, Bing Du, Chris Barnett, E. A. Thompson, Marie Shaw, Renée Carroll, Kathryn Friend, Rachael Catford, Elizabeth E. Palmer, Xiaobing Zou, Jianjun Ou, Honghui Li, Hui Guo, Jennifer Gerdts, Emanuela Avola, Giuseppe Calabrese, Maurizio Elia, Donatella Greco, Anna Lindstrand, Ann Nordgren, Britt‐Marie Anderlid, Geert Vandeweyer, Anke Van Dijck, Nathalie Van der Aa, Brooke G. McKenna, Miroslava Hančárová, Šárka Bendová, Markéta Havlovicová, Giovanni Malerba, Bernardo Dalla Bernardina, Pierandrea Muglia, Arie van Haeringen, Mariëtte J.V. Hoffer, Barbara Franke, Gerarda Cappuccio, Martin B. Delatycki, Paul J. Lockhart, Melanie A. Manning, Pengfei Liu, Ingrid E. Scheffer, Nicola Brunetti‐Pierri, Nanda Rommelse, David G. Amaral, Gijs W.E. Santen, Elisabetta Trabetti, Zdeněk Sedláček, Jacob J. Michaelson, Karen Pierce, Eric Courchesne, R. Frank Kooy, John Acampado, J. Andrea, Alpha Amatya, Irina Astrovskaya, Asif Bashar, Elizabeth Brooks, Martin E. Butler, Lindsey A. Cartner, Wubin Chin, Wendy K. Chung, Amy M. Daniels, Pamela Feliciano, Chris Fleisch, Swami Ganesan, William B. Jensen, Alex E. Lash, Richard P. Marini, Vincent J. Myers, Eirene O’Connor, Chris Rigby, B. E. Robertson, Neelay Shah, Swapnil Shah, Emily Singer, LeeAnne Green Snyder, Alexandra N. Stephens, Jennifer Tjernagel, Brianna M. Vernoia, Natalia Volfovsky, L. Casey White, Alexander Hsieh, Yufeng Shen, Xueya Zhou, Tychele N. Turner, Ethan Bahl, Taylor R. Thomas

    Publié 2020
    Accéder au texte intégral Accéder au texte intégral
    Artigo
    Ajouter aux favoris
    Enregistré dans:
  12. 12
    Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders

    Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders par Tianyun Wang, Chang N. Kim, Trygve E. Bakken, Madelyn A. Gillentine, Barbara Henning, Yafei Mao, Christian Gilissen, Tomasz J. Nowakowski, Evan E. Eichler, John Acampado, J. Andrea, Alpha Amatya, Irina Astrovskaya, Asif Bashar, Elizabeth Brooks, Martin E. Butler, Lindsey A. Cartner, Wubin Chin, Wendy K. Chung, Amy M. Daniels, Pamela Feliciano, Chris Fleisch, Swami Ganesan, William B. Jensen, Alex E. Lash, Richard P. Marini, Vincent J. Myers, Eirene O'Connor, Chris Rigby, B. E. Robertson, Neelay Shah, Swapnil Shah, Emily Singer, LeeAnne Green Snyder, Alexandra N. Stephens, Jennifer Tjernagel, Brianna M. Vernoia, Natalia Volfovsky, L. Casey White, Alexander Hsieh, Yufeng Shen, Xueya Zhou, Tychele N. Turner, Ethan Bahl, Taylor R. Thomas, Leo Brueggeman, Tanner Koomar, Jacob J. Michaelson, Brian J. O’Roak, Rebecca Barnard, Richard A. Gibbs, Donna M. Muzny, Aniko Sabo, Kelli L. Baalman Ahmed, Evan E. Eichler, Matthew Siegel, Leonard Abbeduto, David G. Amaral, Brittani A. Hilscher, Deana Li, Kaitlin N. Smith, Samantha Thompson, Charles F. Albright, Eric Butter, Sara Eldred, Nathan Hanna, Mark Jones, Daniel L. Coury, Jessica Scherr, Taylor Pifher, Erin Roby, Brandy Dennis, Lorrin Higgins, Melissa A. Brown, Michael Alessandri, Anibal Gutierrez, Melissa N. Hale, Lynette M. Herbert, Hoa Lam Schneider, Giancarla David, Robert D. Annett, Dustin E. Sarver, Ivette Arriaga, Alexies Camba, Amanda C. Gulsrud, Monica Haley, James T. McCracken, Sophia Sandhu, Maira Tafolla, Wha S. Yang, Laura A. Carpenter, Catherine C. Bradley, Frampton Gwynette, Patricia Manning, Rebecca C. Shaffer, Carrie Thomas, Raphael Bernier, Emily A. Fox, Jennifer Gerdts, Micah Pepper

    Publié 2022
    Accéder au texte intégral
    Artigo
    Ajouter aux favoris
    Enregistré dans:

Outils de recherche: