المؤلفون: Tianyun Wang, Kendra Hoekzema, Davide Vecchio, Huidan Wu, Arvis Sulovari, Bradley P. Coe, Madelyn A. Gillentine, Amy B. Wilfert, Luis A. Perez-Jurado, Malin Kvarnung, Yoeri Sleyp, Rachel K. Earl, Jill A. Rosenfeld, Madeleine R. Geisheker, Lin Han, Bing Du, Chris Barnett, Elizabeth Thompson, Marie Shaw, Renee 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 McKenna, Miroslava Hancarova, Sarka Bendova, Marketa Havlovicova, Giovanni Malerba, Bernardo Dalla Bernardina, Pierandrea Muglia, Arie van Haeringen, Mariette J. V. Hoffer, Barbara Franke, Gerarda Cappuccio, Martin 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, The SPARK Consortium, Magnus Nordenskjöld, Corrado Romano, Hilde Peeters, Raphael A. Bernier, Jozef Gecz, Kun Xia, Evan E. Eichler

المصدر: Nature Communications, Vol 11, Iss 1, Pp 1-13 (2020)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/e984b4b7e89d4200874d3fcd3c269adc

المؤلفون: Tianyun Wang, Kendra Hoekzema, Davide Vecchio, Huidan Wu, Arvis Sulovari, Bradley P. Coe, Madelyn A. Gillentine, Amy B. Wilfert, Luis A. Perez-Jurado, Malin Kvarnung, Yoeri Sleyp, Rachel K. Earl, Jill A. Rosenfeld, Madeleine R. Geisheker, Lin Han, Bing Du, Chris Barnett, Elizabeth Thompson, Marie Shaw, Renee 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 McKenna, Miroslava Hancarova, Sarka Bendova, Marketa Havlovicova, Giovanni Malerba, Bernardo Dalla Bernardina, Pierandrea Muglia, Arie van Haeringen, Mariette J. V. Hoffer, Barbara Franke, Gerarda Cappuccio, Martin 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, The SPARK Consortium, Magnus Nordenskjöld, Corrado Romano, Hilde Peeters, Raphael A. Bernier, Jozef Gecz, Kun Xia, Evan E. Eichler

المصدر: Nature Communications, Vol 11, Iss 1, Pp 1-1 (2020)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/4f27d800b9ea4f9bbaecf063c4a12247

المؤلفون: Philippe M. Campeau, Katherine Agre, Vernon R. Sutton, Kirsty McWalter, Bertrand Isidor, Øystein L. Holla, Anna Lehman, Megha Desai, Jonathan Berg, Stéphane Bézieau, Rolph Pfundt, Jennifer Tarpinian, Jennifer B. Humberson, Holly A.F. Stessman, Madeleine R. Geisheker, Emma Bedoukian, Shalini N. Jhangiani, Marine I. Murphree, Annapurna Poduri, Anne-Sophie Denommé-Pichon, Christian Gilissen, Yaping Yang, Eliane Beauregard-Lacroix, Claude Férec, Francesca Filippini, Anne Guimier, Daryl A. Scott, Stephen Sanders, Julie C. Sapp, Ralitza H. Gavrilova, Slavé Petrovski, Ann Nordgren, Sylvia Redon, Ernie M.H.F. Bongers, Shelagh Joss, Jill A. Rosenfeld, Wallid Deb, Ingrid M. Wentzensen, Usha Kini, Vandana Shashi, Mindy H. Li, Stanislas Lyonnet, Thomas Garcia, Øyvind L. Busk, Christoffer Nellåker, Amber Begtrup, Brigitte Gilbert-Dussardier, Thomas Besnard, Francois V. Bolduc, Patrick R. Blackburn, Justine Rousseau, Frédéric Bilan, Eric W. Klee, Christopher T. Gordon, Pavel N. Pichurin, Peggy Kulch, Kevin P. Lally, Laurie Robak, Arnaud Picard, Kristian Tveten, Meredith Park, Sébastien Küry, Jaya Punetha, Moira Blyth, Asbjørg Stray-Pedersen, Jacqueline Harris, Erin L. Heinzen, Nicholas Stong, Cara M. Skraban, Julie S. Cohen, Aida Telegrafi, Xenia Latypova, Zeynep Coban Akdemir, Jacob Zyskind, Caitlin Troyer, Xiang-Jiao Yang, Tuula Rinne, Leslie G. Biesecker, Jennifer E. Posey, Kyle Retterer, Jeanne Amiel, Rui Xiao, Magnus Nordenskjöld, Tammie Dewan, Jennifer A. Sullivan, Charlotte von der Lippe, Evan E. Eichler, Anna Lindstrand, Dominique Bonneau, Yuri A. Zarate, Elaine H. Zackai, Fayth M. Kalb, Daniel H. Lowenstein, Shiri Avni, Benjamin Cogné, Jennifer J. Johnston, Kerri H. Whitlock, Catherine Shain, Séverine Audebert-Bellanger, Malin Kvarnung, Oana Caluseriu, David Goldstein, Annick Toutain, Andres Hernandez-Garcia, Brina Daniels, Sophie Ehresmann, James R. Lupski, Julie McGaughran, Ashley H Ebanks, Kévin Uguen, Marine Legendre, Sylvie Odent, Richard Redon, Erica H. Gerkes, Xiaofei Song

المساهمون: unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX), Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre hospitalier universitaire de Nantes (CHU Nantes), CHU Sainte Justine [Montréal], Université du Québec à Montréal = University of Québec in Montréal (UQAM), University of Oxford [Oxford], GeneDx [Gaithersburg, MD, USA], Mayo Clinic [Rochester], University of California [San Francisco] (UCSF), University of California, Génétique, génomique fonctionnelle et biotechnologies (UMR 1078) (GGB), Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO)-Université de Brest (UBO)-EFS-Institut National de la Santé et de la Recherche Médicale (INSERM), Etablissement Français du Sang Bretagne, EFS, Hôpital de la Cavale Blanche - CHRU Brest (CHU - BREST ), Johns Hopkins University School of Medicine [Baltimore], Kennedy Krieger Institute [Baltimore], Chapel Allerton Hospital, University of British Columbia (UBC), University of Dundee, Rush University Medical Center [Chicago], Oxford University Hospitals NHS Trust, Queen Elizabeth University Hospital (Glasgow), Trondheim University, Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), University of Virginia [Charlottesville], Texas Children's Hospital [Houston, USA], Baylor College of Medicine (BCM), Baylor University, University of Pennsylvania [Philadelphia], National Human Genome Research Institute (NHGRI), Harvard Medical School [Boston] (HMS), Karolinska University Hospital [Stockholm], Duke University Medical Center, University of Groningen [Groningen], University of Arkansas for Medical Sciences (UAMS), McGovern Medical School [Houston, Texas], The University of Texas Health Science Center at Houston (UTHealth), Phoenix Children's Hospital, Columbia University [New York], University of Southern Queensland (USQ), Telemark Hospital Trust [Skien, Norway], University of Washington [Seattle], Oslo University Hospital [Oslo], Children’s Hospital of Philadelphia (CHOP ), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Radboud University Medical Center [Nijmegen], Ann & Robert H. Lurie Children's Hospital of Chicago, Imagerie et cerveau (iBrain - Inserm U1253 - UNIV Tours ), Université de Tours-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Trousseau [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Institut de Génétique et Développement de Rennes (IGDR), Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), CHU Pontchaillou [Rennes], Centre de référence Maladies Rares CLAD-Ouest [Rennes], Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Centre hospitalier universitaire de Poitiers (CHU Poitiers), University of Alberta, Boston Children's Hospital, McGill University Health Center [Montreal] (MUHC), Hôpital Morvan - CHRU de Brest (CHU - BREST ), Creighton University Medical School [Omaha, NE, USA], Howard Hughes Medical Institute [Boston] (HHMI), Howard Hughes Medical Institute (HHMI)-Harvard Medical School [Boston] (HMS), National Institute of Neurological Disorders and Stroke, K08 HG008986, National Human Genome Research Institute, BC Children’s Hospital Foundation, Genome British Columbia, Fonds de Recherche du Québec - Santé, Canadian Institutes of Health Research, Center for Individualized Medicine, Mayo Clinic, Health Regional Agency from Poitou-Charentes, French Ministry of Health, RC14_0107, HUGODIMS, NS053998, The Epilepsy Phenome/Genome Project, NS077303, Epi4K, Duke Genome Sequencing Clinic, NINDS R35 NS105078, National Institutes of Health/Eunice Kennedy Shriver National Institute of Child Health and Human Development, HG200328 12, intramural research program of the NHGRI, Dart NeuroScience, Kids Brain Health Network, Mining for Miracles, UM1 HG006542, National Heart, Lung, and Blood Institute, CIM Investigative and Functional Genomics Program, R01MH101221, National Institute of Mental Health, Unité de recherche de l'institut du thorax (ITX-lab), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), University of Oxford, University of California [San Francisco] (UC San Francisco), University of California (UC), EFS-Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), University of Virginia, University of Pennsylvania, Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), MitoVasc - Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), CCSD, Accord Elsevier, Faculteit Medische Wetenschappen/UMCG, Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )

المصدر: American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2019, 104 (3), pp.530-541. ⟨10.1016/j.ajhg.2019.01.010⟩
American Journal of Human Genetics, 2019, 104 (3), pp.530-541. ⟨10.1016/j.ajhg.2019.01.010⟩
American Journal of Human Genetics, 104, 3, pp. 530-541
American Journal of Human Genetics, 104, 530-541
American Journal of Human Genetics, 104(3), 530-541. CELL PRESS
American journal of human genetics, vol 104, iss 3

مصطلحات موضوعية: CHROMATIN, Male, 0301 basic medicine, Autism, Sequence Homology, [SDV.GEN] Life Sciences [q-bio]/Genetics, Medical and Health Sciences, 0302 clinical medicine, SCHIZOPHRENIA, Gene expression, 2.1 Biological and endogenous factors, Missense mutation, Aetiology, Child, de novo variants, Genetics (clinical), Pediatric, Genetics & Heredity, Genetics, biology, neurodevelopmental disorders, histone acetylation, Adaptor Proteins, Nuclear Proteins, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Syndrome, Biological Sciences, Prognosis, Phenotype, Chromatin, Mental Health, Histone, intellectual disability, Child, Preschool, Female, REGULATOR, congenital malformations, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], BRAIN-DEVELOPMENT, Adult, Adolescent, Histone acetyltransferase complex, Intellectual and Developmental Disabilities (IDD), Mutation, Missense, Deciphering Developmental Disorders study, autism spectrum disorder, KAT6B, RNAI SCREEN, Young Adult, 03 medical and health sciences, CAUSES Study, Rare Diseases, Intellectual Disability, Report, COFACTOR, medicine, RUBINSTEIN-TAYBI-SYNDROME, Humans, Amino Acid Sequence, Autistic Disorder, Preschool, Gene, Genetic Association Studies, Adaptor Proteins, Signal Transducing, [SDV.GEN]Life Sciences [q-bio]/Genetics, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Rubinstein–Taybi syndrome, Signal Transducing, Neurosciences, Infant, medicine.disease, TRRAP, Brain Disorders, SELF-RENEWAL, 030104 developmental biology, DE-NOVO MUTATIONS, Mutation, biology.protein, Missense, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b42ef2b2b430d69e0a64d8edee87da3
https://doi.org/10.1016/j.ajhg.2019.01.010

المؤلفون: Melanie A. Manning, Xiaobing Zou, Maurizio Elia, Geert Vandeweyer, Nanda Rommelse, Christopher Barnett, Karen Pierce, Arie van Haeringen, Marketa Havlovicova, Ann Nordgren, Bing Du, Eric Courchesne, Madelyn A. Gillentine, Sedlácek Z, Davide Vecchio, Lin Han, Britt-Marie Anderlid, Madeleine R. Geisheker, Jianjun Ou, Kun Xia, Paul J. Lockhart, Gijs W. E. Santen, Rachael Catford, Jill A. Rosenfeld, Bernardo Dalla Bernardina, Gerarda Cappuccio, Anna Lindstrand, Raphael Bernier, Marie Shaw, Amy B. Wilfert, R. Frank Kooy, Tianyun Wang, Donatella Greco, Corrado Romano, Hilde Peeters, Barbara Franke, Magnus Nordenskjöld, Huidan Wu, Elizabeth E. Palmer, Yoeri Sleyp, Mariëtte J.V. Hoffer, Kathryn Friend, Anke Van Dijck, Giovanni Malerba, Hui Guo, Rachel K. Earl, Arvis Sulovari, Evan E. Eichler, Bradley P. Coe, Jacob J. Michaelson, Martin B. Delatycki, Elizabeth Thompson, Brooke G. McKenna, Miroslava Hancarova, Pierandrea Muglia, Sarka Bendova, Malin Kvarnung, Renee Carroll, Elisabetta Trabetti, Giuseppe Calabrese, Jennifer Gerdts, Kendra Hoekzema, Emanuela Avola, David G. Amaral, Ingrid E. Scheffer, Jozef Gecz, Pengfei Liu, Luis A. Pérez-Jurado, Nicola Brunetti-Pierri, Honghui Li, Nathalie Van der Aa

المصدر: Nature communications, vol 11, iss 1
Nature Communications, Vol 11, Iss 1, Pp 1-1 (2020)
Nature Communications

مصطلحات موضوعية: Male, CCCTC-Binding Factor, Scale (ratio), Science, DNA Mutational Analysis, MEDLINE, General Physics and Astronomy, Computational biology, Heterogeneous-Nuclear Ribonucleoprotein U, Biology, General Biochemistry, Genetics and Molecular Biology, KCNQ3 Potassium Channel, Cohort Studies, Basic Helix-Loop-Helix Transcription Factors, Humans, SPARK Consortium, Genetic Predisposition to Disease, Author Correction, lcsh:Science, Genetic Association Studies, Multidisciplinary, Neurodevelopmental disorders, High-Throughput Nucleotide Sequencing, RNA-Binding Proteins, General Chemistry, Autism spectrum disorders, DNA-Binding Proteins, Repressor Proteins, Case-Control Studies, Mutation, Next-generation sequencing, Female, lcsh:Q, Transcription Factors

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20f56b0a3b8f4b8f1d7101badc16ecf8
https://escholarship.org/uc/item/5450h9c4

المؤلفون: Eric Fombonne, Robin P. Goin-Kochel, Brian J. O'Roak, Leonard Abbeduto, Gabriella Aberbach, John Acampado, Andrea J. Ace, Charles Albright, Michael Alessandri, David G. Amaral, Alpha Amatya, Claudine Anglo, Robert D. Annett, Ivette Arriaga, Raven Ashley, Irina Astrovskaya, Kelly Baalman, Melissa Baer, Ethan Bahl, Adithya Balasubramanian, Gabrielle Baraghoshi, Nicole Bardett, Rebecca A. Barnard, Asif Bashar, Arthur Beaudet, Malia Beckwith, Landon Beeson, Dawn Bentley, Raphael A. Bernier, Elizabeth Berry-Kravis, Sarah Boland, Stephanie Booker, Catherine Bradley, Stephanie J. Brewster, Elizabeth Brooks, Melissa Brown, Leo Brueggeman, Martin E. Butler, Eric M. Butter, Kristen Callahan, Alexies Camba, Paul Carbone, Laura Carpenter, Sarah Carpenter, Nicholas Carriero, Lindsey A. Cartner, Lucas Casten, Ahmad S. Chatha, Wubin Chin, Sharmista Chintalapalli, Daniel Cho, Wendy K. Chung, Renee D. Clark, Cheryl Cohen, Kendra Coleman, Costanza Columbi, Leigh Coppola, Eric Courchesne, Joseph F. Cubells, Mary Hannah Currin, Amy M. Daniels, Giancarla David, Lindsey DeMarco, Megan Y. Dennis, Kate Dent, Gabriel S. Dichter, Yan Ding, Huyen Dinh, Ryan Doan, HarshaVardhan Doddapaneni, Evan E. Eichler, Sara Eldred, Christine Eng, Craig A. Erickson, Amy Esler, Ali Fatemi, Pamela Feliciano, Gregory Fischer, Angela Fish, Ian Fisk, Eric J. Fombonne, Margaret Foster, Emily A. Fox, Sunday Francis, Sandra L. Friedman, Swami Ganesan, Michael Garrett, Vahid Gazestani, Madeleine R. Geisheker, Jennifer A. Gerdts, Daniel H. Geschwind, Mohammad Ghaziuddin, Richard A. Gibbs, Natalia Gonzalez, Lindsey Goudreau, Anthony J. Griswold, Luke P. Grosvenor, Angela J. Gruber, Amanda C. Gulsrud, Jaclyn Gunderson, Chris Gunter, Abha Gupta, Anibal Gutierrez, Melissa N. Hale, Monica Haley, Jacob B. Hall, Kira E. Hamer, Bing Han, Nathan Hanna, Antonio Hardan, Christina Harkins, Gloria Harrington, Jill Harris, Nina Harris, Brenda Hauf, Caitlin Hayes, Kathryn Heerwagen, Susan L. Hepburn, Lynette M. Herbert, Michelle Heyman, Lorrin Higgins, Brittani A. Hilscher, Eugenia Hofammann, Margaret Hojlo, Susannah Horner, Alexander Hsieh, Jianhong Hu, Lark Y. Huang-Storms, Samantha Hunter, Hanna Hutter, Dalia Istephanous, Suma Jacob, Nancy Jaramillo, Anna Jelinek, William Jensen, Mark Jones, Michelle Jordy, Alissa Jorgenson, Roger Jou, A. Pablo Juarez, Jessyca Judge, Jane Jurayj, Taylor Kalmus, Stephen Kanne, Hannah E. Kaplan, Lauren Kasparson, Matt Kent, So Hyun Kim, Alex Kitaygorodsky, Hope Koene, Tanner Koomar, Viktoriya Korchina, Anthony D. Krentz, Hoa Lam Schneider, Elena Lamarche, Erica Lampert, Rebecca J. Landa, Alex E. Lash, J. Kiely Law, Noah Lawson, Kevin Layman, Holly Lechniak, Sandra Lee, Soo J. Lee, Daniel Lee Coury, Christa Lese Martin, Laurie Lesher, Hai Li, Deana Li, Natasha Lillie, Xiuping Liu, Marilyn Lopez, Catherine Lord, Kathryn Lowe, Malcolm D. Mallardi, Patricia Manning, Julie Manoharan, Richard Marini, Christa Martin, Gabriela Marzano, Andrew Mason, Sarah Mastel, Emily T. Matthews, James T. McCracken, Alexander P. McKenzie, Alexandra Miceli, Jacob J. Michaelson, Anna Milliken, Sarah Mohiuddin, Zeineen Momin, Michael J. Morrier, Stewart Mostofsky, Shwetha Murali, Donna Muzny, Vincent J. Myers, Jason Neely, Caitlin Nessner, Amy Nicholson, Melanie Niederhouser, Kaela O'Brien, Eirene O'Connor, Molly O'Neil, Cesar Ochoa-Lubinoff, Jessica Orobio, Libby Orrick, Crissy Ortiz, Opal Y. Ousley, Lillian D. Pacheco, Samiza Palmer, Juhi Pandey, Anna Marie Paolicelli, Katherine G. Pawlowski, Karen L. Pierce, Joseph Piven, Samantha Plate, Jose Polanco, Marc Popp, Natalie Pottschmidt, Tiziano Pramparo, Lisa M. Prock, Hongjian Qi, Shanping Qiu, Angela L. Rachubinski, Kshitij Rajbhandari, Rishiraj Rana, Vai Ranganathan, Laurie Raymond, Rick Remington, Catherine E. Rice, Chris Rigby, Beverly E. Robertson, Nicki Rodriguez, Barbara Rodriguez, Katherine Roeder, Cordelia R. Rosenberg, Nicole Russo-Ponsaran, Elizabeth Ruzzo, Aniko Sabo, Mustafa Sahin, Andrei Salomatov, Sophia Sandhu, Susan Santangelo, Dustin E. Sarver, Jessica Scherr, Robert T. Schultz, Kathryn A. Schweers, Rebecca Shaffer, Swapnil Shah, Tamim Shaikh, Yufeng Shen, Amanda D. Shocklee, Lisa Shulman, Matthew Siegel, Andrea R. Simon, Laura Simon, Vini Singh, Steve Skinner, Christopher J. Smith, Kaitlin Smith, LeeAnne G. Snyder, Latha V. Soorya, Aubrie Soucy, Danielle Stamps, Morgan Steele, Alexandra N. Stephens, Colleen M. Stock, Catherine Sullivan, James S. Sutcliffe, Amy Swanson, Maira Tafolla, Nicole Takahashi, Cora Taylor, Carrie Thomas, Taylor Thomas, Samantha Thompson, Jennifer Tjernagel, Tychele N. Turner, Maria Valicenti-McDermott, Bonnie Van Metre, Candace Van Wade, Jeremy Veenstra-Vanderweele, Mary Verdi, Brianna M. Vernoia, Natalia Volfovsky, Jermel Wallace, Corrie H. Walston, Jiayao Wang, Tianyun Wang, Zachary Warren, Lucy Wasserburg, Sabrina White, L. Casey White-Lehman, Ericka L. Wodka, Simon Xu, Wha S. Yang, Meredith Yinger, Sarah Youngkin, Timothy Yu, Lan Zang, Hana Zaydens, Haicang Zhang, Haoquan Zhao, Xueya Zhou, Allyson Zick

المصدر: Vaccine. 38(7)

مصطلحات موضوعية: Causes of autism, Male, Health Knowledge, Attitudes, Practice, Adolescent, Language delay, Autism Spectrum Disorder, Ethnic group, behavioral disciplines and activities, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, mental disorders, Intellectual disability, medicine, Ethnicity, Humans, 030212 general & internal medicine, Autistic Disorder, Child, Minority Groups, Vaccines, General Veterinary, General Immunology and Microbiology, business.industry, Vaccination, Public Health, Environmental and Occupational Health, medicine.disease, Infectious Diseases, Caregivers, Autism spectrum disorder, Child, Preschool, Cohort, Molecular Medicine, Autism, Female, business, Developmental regression, Clinical psychology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6bda71f0ce591622386a0556da905cb
https://pubmed.ncbi.nlm.nih.gov/31924427

المؤلفون: Ed S. Lein, Trygve E. Bakken, Allison M. Lake, Evan E. Eichler, Holly A.F. Stessman, Arvis Sulovari, Raphael Bernier, Madeleine R. Geisheker, Joseph D. Dougherty, Fereydoun Hormozdiari, Bradley P. Coe

المصدر: Nature genetics, vol 51, iss 1
Nature genetics

مصطلحات موضوعية: ENO3, Developmental Disabilities, GRIN2B, POGZ, CASK, GATAD2B, Mice, 0302 clinical medicine, ADAP1, SMARCA4, TRIO, SMARCA2, KCNH1, CTNNB1, ANP32A, Aetiology, MEF2C, ADNP, KIF1A, KCNQ2, EP300, KCNQ3, 0303 health sciences, EHMT1, CNKSR2, Intracellular Signaling Peptides and Proteins, CAPN15, CREBBP, SRCAP, DLG4, MYT1L, PPP1CB, CSNK2A1, MED13L, PPP2R1A, ZBTB18, WAC, HNRNPU, STXBP1, SYNGAP1, SOX5, HECW2, NONO, Mi-2 Nucleosome Remodeling and Deacetylase Complex, ASH1L, SCN8A, AHDC1, SLC6A1, DNA Copy Number Variations, AGO4, Intellectual and Developmental Disabilities (IDD), SMARCD1, FOXP1, USP9X, MEIS2, Article, EFTUD2, PUF60, BRAF, ANKRD11, GABRB2, 03 medical and health sciences, CUL3, SMC1A, SATB2, BCL11A, Intellectual Disability, IQSEC2, Genetics, WDR26, TBL1XR1, Humans, Autistic Disorder, Polymorphism, DLX3, TCF4, MSL3, Chromosome Aberrations, TCF20, KIAA2022, EEF1A2, de novo Mutation, Chromosome, SUV420H1, DYRK1A, COL4A3BP, SETD5, CTCF, CHD3, medicine.disease, CHD2, CAPRIN1, MAP2K1, NAA10, Neurodevelopmental Disorders, HDAC8, Mutation, KDM5B, DNMT3A, SNX5, CHAMP1, HIVEP3, NAA15, 030217 neurology & neurosurgery, TMEM178A, Developmental Biology, ZMYND11, PTEN, TNPO2, Autism, PTPN11, ASXL3, Medical and Health Sciences, CHD8, SYNCRIP, Gene duplication, QRICH1, Missense mutation, 2.1 Biological and endogenous factors, Exome, Copy-number variation, SHANK3, Pediatric, GNAI1, WDR45, Single Nucleotide, KMT2A, Biological Sciences, PPM1D, Phenotype, MECP2, PPP2R5D, TLK2, PACS1, Genetics of Developmental Delay, DDX3X, MBD5, PACS2, FOXG1, SET, RAC1, Biotechnology, KANSL1, NFIX, SNAPC5, SETBP1, PURA, Biology, KAT6B, KAT6A, NSD1, Polymorphism, Single Nucleotide, UPF3B, medicine, TAF1, Animals, TRIP12, Gene, 030304 developmental biology, ITPR1, DYNC1H1, Neurosciences, GNAO1, PIK3CA, ARID1B, Brain Disorders, LEO1, SCN2A, CDK13

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52475f0e976717c1add8cd80fc01021b
https://escholarship.org/uc/item/5630j7d2

المؤلفون: Bradley P. Coe, Madeleine R. Geisheker, Evan E. Eichler, Fereydoun Hormozdiari, Holly A.F. Stessman, Arvis Sulovari

مصطلحات موضوعية: Genetics, PAFAH1B1, Gene duplication, Missense mutation, Copy-number variation, Biology, Haploinsufficiency, Gene, Phenotype, KIF1A

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d441cf025d77f2d1e175f833e2e666f

المؤلفون: Hakon Hakonarson, Tianyun Wang, Karen Pierce, Madeleine R. Geisheker, Antonino Alberti, Ann Nordgren, Britt-Marie Anderlid, Geert Vandeweyer, Mirella Vinci, Christopher Barnett, Kendra Hoekzema, Larry S. Zweifel, Jan Liebelt, Kun Xia, Anna Lindstrand, Raphael Bernier, Bradley P. Coe, Eric Haan, Elizabeth Thompson, Eric Courchesne, Malin Kvarnung, Kathryn Friend, Jozef Gecz, Marie Shaw, Holly A.F. Stessman, Tychele N. Turner, Tiziano Pramparo, Gijs W. E. Santen, Jacob J. Michaelson, Hui Guo, Gabriel Heymann, Corrado Romano, Magnus Nordenskjöld, Evan E. Eichler, Emanuela Avola, Stefania Giusto, R. Frank Kooy, Hilde Peeters, Zdenek Sedlacek, Srinivasa Nalabolu

المصدر: Nature neuroscience
Nature Neuroscience, 20(8), 1043

مصطلحات موضوعية: Male, 0301 basic medicine, Candidate gene, Mutation, Missense, Biology, medicine.disease_cause, Article, 03 medical and health sciences, 0302 clinical medicine, Neurodevelopmental disorder, medicine, Humans, Missense mutation, Exome, Genetic Predisposition to Disease, Amino Acid Sequence, Receptors, AMPA, Autistic Disorder, Gene, Genetics, Mutation, General Neuroscience, medicine.disease, Phenotype, 030104 developmental biology, Receptors, Glutamate, Female, Human medicine, Neuroscience, 030217 neurology & neurosurgery, GRID2

وصف الملف: pdf; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff07df5ad20b1f2f616403f83b93dd5d
https://hdl.handle.net/1887/94670

المؤلفون: John Lazar, Heather M. Machkovech, Max L. Dougherty, Madeleine R. Geisheker, Qian Zhou, Rebecca Resnick, Kelly D. Smith, Gregory M. Findlay, Akash Kumar, Rebecca Salesky, Faezeh Talebi-Liasi, Andrew R. Bogaard, Christopher K. Arakawa, Jason C. Klein, Alexander I. Salter, Jay Shendure, Marshall S. Horwitz, Jacob Baudin, Jesse M. Resnick, John I. Clark

المصدر: PLoS ONE, Vol 9, Iss 9, p e106744 (2014)
PLoS ONE

مصطلحات موضوعية: Male, Pulmonology, Respiratory System, lcsh:Medicine, Genome-wide association study, Bioinformatics, Genome, Idiopathic pulmonary fibrosis, Medicine and Health Sciences, lcsh:Science, Genetics, Multidisciplinary, Education, Medical, High-Throughput Nucleotide Sequencing, Genomics, Middle Aged, Mucin-5B, Genetic Diseases, Anatomy, Research Article, Science Policy, Alveoli, Single-nucleotide polymorphism, Interstitial Lung Diseases, Biology, Polymorphism, Single Nucleotide, White People, DNA sequencing, Genomic Medicine, Cadaver, medicine, Humans, Genetic Testing, Clinical Genetics, Whole genome sequencing, Genome, Human, lcsh:R, Personalized Medicine, Biology and Life Sciences, Sequence Analysis, DNA, medicine.disease, Idiopathic Pulmonary Fibrosis, respiratory tract diseases, Science Education, Human genome, lcsh:Q, Lungs, Clinical Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62e725407b7601ab676e7f641f40231e
http://europepmc.org/articles/PMC4156421?pdf=render