David Chitayat
1985–2025 年に発表
- 169
- 論文数
- 25,470
- 被引用数
- 96
- h 指数
- 165
- i10 指数
被引用数
引用元
国・地域
機関
分野
- Biochemistry, Genetics and Molecular Biology51.4%
- Medicine33.2%
- Neuroscience8.3%
- Immunology and Microbiology4.2%
- Pharmacology, Toxicology and Pharmaceutics0.9%
- Agricultural and Biological Sciences0.5%
- その他1.5%
トピック
- Genetics and Neurodevelopmental Disorders4%
- Genomics and Rare Diseases4%
- Genomic variations and chromosomal abnormalities3.9%
- Autism Spectrum Disorder Research2.4%
- Congenital heart defects research2.3%
- Epigenetics and DNA Methylation1.7%
- その他81.7%
共著者
- Patrick Shannon19
- Susan Blasér14
- Riyana Babul‐Hirji13
- Greg Ryan9
- Jo-Ann Johnson9
- Sanaa Choufani9
- Stephen W. Scherer9
- Ants Toi8
- Gideon Koren8
- Karen Chong8
- Roberto Mendoza‐Londono8
- Rosanna Weksberg8
- Dimitri J. Stavropoulos7
- Han G. Brunner7
- Maian Roifman7
- Sylvie Langlois7
- Abdul Noor6
- Cheryl Cytrynbaum6
- Christian R. Marshall6
- François Audibert6
- Michael Brudno6
- Nanette Okun6
- R. Douglas Wilson6
- Alain Gagnon5
全論文
- Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
著者: Yanick J. Crow, Diana Chase, Johanna L. Schmidt, Marcin Szynkiewicz, Gabriella Forte, Hannah Gornall, Anthony Oojageer, Beverley Anderson, Amy Pizzino, Guy Helman, Mohamed S. Abdel‐Hamid, Ghada M. H. Abdel‐Salam, Sam Ackroyd, Alec Aeby, Guillermo Agosta, Catherine S. W. Albin, Stavit A. Shalev, Montse Arellano, Giada Ariaudo, Vijay Aswani, Riyana Babul‐Hirji, Eileen Baildam, Nadia Bahi‐Buisson, Kathryn Bailey, Christine Barnérias, Magalie Barth, Roberta Battini, Michael W. Beresford, Geneviève Bernard, Marika Bianchi, Thierry Billette de Villemeur, Edward Blair, Miriam Bloom, Alberto Burlina, Maria Luisa Carpanelli, Daniel R. Carvalho, Manuel Castro‐Gago, Anna Cavallini, Cristina Cereda, Kate Chandler, David Chitayat, Abigail E. Collins, Concepción Sierra Córcoles, Nuno Cordeiro, Giovanni Crichiutti, Lyvia Dabydeen, Russell C. Dale, Stefano D’Arrigo, Christian G E L De Goede, Corinne De Laet, Liesbeth M. H. De Waele, Inés María Denzler, Isabelle Desguerre, Koenraad Devriendt, Maja Di Rocco, Michael Fahey, Elisa Fazzi, Colin D. Ferrie, António Figueiredo, Blanca Gener, Cyril Goizet, Nirmala Gowrinathan, Kalpana Gowrishankar, Donncha Hanrahan, Bertrand Isidor, Bülent Kara, Naz Khan, Mary D. King, Edwin P. Kirk, Ram Kumar, Lieven Lagae, P. Landrieu, Heinz Lauffer, Vincent Laugel, Roberta La Piana, Ming Lim, Jean‐Pierre Lin, Tarja Linnankivi, Mark T. Mackay, Daphna Marom, Charles Marques Lourenço, Shane McKee, Isabella Moroni, Jenny E.V. Morton, Marie‐Laure Moutard, Kevin Murray, Rima Nabbout, Sheela Nampoothiri, Noemí Núñez‐Enamorado, P.J. Oades, Ivana Olivieri, John R. Østergaard, Belén Pérez‐Dueñas, Julie Prendiville, Venkateswaran Ramesh, Magnhild Rasmussen, Luc Régal, Federica Ricci, Marlène Rio, Diana Rodriguez ほか 36 名 - American Journal of Medical Genetics Part A 2015 被引用: 613
- Structural Variation of Chromosomes in Autism Spectrum Disorder
著者: Christian R. Marshall, Abdul Noor, John B. Vincent, Anath C. Lionel, Lars Feuk, Jennifer Skaug, Mary Shago, Rainald Moessner, Dalila Pinto, Yan Ren, Bhooma Thiruvahindrapduram, Andreas Fiebig, Stefan Schreiber, Jan M. Friedman, Cees Ketelaars, Yvonne J. Vos, Can Fıçıcıoğlu, Susan J. Kirkpatrick, Rob Nicolson, Leon Sloman, Anne Summers, Clare Gibbons, Ahmad S. Teebi, David Chitayat, Rosanna Weksberg, Ann Thompson, Cathy Vardy, Vicki Crosbie, Sandra Luscombe, Rebecca Baatjes, Lonnie Zwaigenbaum, Wendy Roberts, Bridget A. Fernandez, Péter Szatmári, Stephen W. Scherer - The American Journal of Human Genetics 2008 被引用: 1,843
- Intrinsic Endocardial Defects Contribute to Hypoplastic Left Heart Syndrome
著者: Yifei Miao, Lei Tian, Marcy Martin, Sharon L. Paige, Francisco X. Galdos, Jibiao Li, Alyssa Klein, Hao Zhang, Nan Ma, Yuning Wei, Maria Stewart, Soah Lee, Jan-Renier Moonen, Bing Zhang, Paul Grossfeld, Seema Mital, David Chitayat, Joseph C. Wu, Marlene Rabinovitch, Timothy J. Nelson, Shuyi Nie, Sean M. Wu, Mingxia Gu - Cell stem cell 2020 被引用: 171
- Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection
著者: Yanick J. Crow, Andrea Leitch, Bruce E. Hayward, Anna Garner, Rekha Parmar, Elen Griffith, Manir Ali, Colin A. Semple, Jean Aicardi, Riyana Babul‐Hirji, Clarisse Baumann, Peter Baxter, Enrico Bertini, Kate Chandler, David Chitayat, D. Cau, Catherine Déry, Elisa Fazzi, Cyril Goizet, Mary D. King, Joerg Klepper, Didier Lacombe, Giovanni Lanzi, Hermione Lyall, María Luisa Martínez‐Frías, Michèle Mathieu, C McKeown, Anne Monier, Yvette Oade, Oliver Quarrell, Christopher Rittey, R. Curtis Rogers, Amparo Sanchís, John B.P. Stephenson, Uta Tacke, Marianne Till, John Tolmie, Pam Tomlin, Thomas Voït, Bernhard Weschke, C. Geoffrey Woods, Pierre Lebon, David T. Bonthron, Chris P. Ponting, Andrew P. Jackson - Nature Genetics 2006 被引用: 673
- Birth defects after maternal exposure to corticosteroids: Prospective cohort study and meta-analysis of epidemiological studies
著者: Laura Park‐Wyllie, Paolo Mazzotta, Anne Pastuszak, Myla E. Moretti, L Béïque, Laura Hunnisett, Mark Friesen, Sheila Jacobson, Sonja Kasapinovic, Debra Chang, Orna Diav‐Citrin, David Chitayat, Irena Nulman, Thomas R. Einarson, Gideon Koren - Teratology 2000 被引用: 950
- Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly
著者: Daniela A. Braun, Jia Rao, Géraldine Mollet, David Schapiro, Marie‐Claire Daugeron, Weizhen Tan, Olivier Gribouval, Olivia Boyer, Patrick Revy, Tilman Jobst‐Schwan, Johanna Magdalena Schmidt, Jennifer A. Lawson, Denny Schanze, Shazia Ashraf, Jeremy F.P. Ullmann, Charlotte A. Hoogstraten, Nathalie Boddaert, Bruno Collinet, Gaëlle Martin, Dominique Liger, Svjetlana Lovric, Mónica Furlano, Ida Chiara Guerrera, Oraly Sanchez-Ferras, Jennifer Hu, Anne‐Claire Boschat, Sylvia Sanquer, Björn Menten, Sarah Vergult, Nina De Rocker, Merlin Airik, Tobias Hermle, Shirlee Shril, Eugen Widmeier, Heon Yung Gee, Won‐Il Choi, Carolin E. Sadowski, Werner L. Pabst, Jillian K. Warejko, Ankana Daga, Tamara Basta, Verena Matejas, Karin Scharmann, Sandra D. Kienast, Babak Behnam, Brendan Beeson, Amber Begtrup, M. Bruce, Gaik-Siew Ch’ng, Shuan‐Pei Lin, Jui-Hsing Chang, Chao‐Huei Chen, Megan T. Cho, Patrick M. Gaffney, Patrick E. Gipson, Chyong-Hsin Hsu, Jameela A. Kari, Yu-Yuan Ke, Cathy Kiraly‐Borri, Wai-ming Lai, Emmanuelle Lemyre, Rebecca O. Littlejohn, Amira Masri, Mastaneh Moghtaderi, Kazuyuki Nakamura, Fatih Özaltın, Marleen Praet, Chitra Prasad, Agnieszka Prytula-Ebels, Elizabeth Roeder, Patrick Rump, Rhonda E. Schnur, Takashi Shiihara, Manish D. Sinha, Neveen A. Soliman, Kenza Soulami, David A. Sweetser, Wen‐Hui Tsai, Jeng-Daw Tsai, Rezan Topaloğlu, Udo Vester, David H. Viskochil, Nithiwat Vatanavicharn, Jessica L. Waxler, Klaas J. Wierenga, Matthias T. F. Wolf, Sik-Nin Wong, Sebastian A. Leidel, Gessica Truglio, Peter C. Dedon, Annapurna Poduri, Shrikant Mane, Richard P. Lifton, Maxime Bouchard, Pekka Kannus, David Chitayat, Daniella Magen, Bert Callewaert, Herman van Tilbeurgh, Martin Zenker ほか 2 名 - Nature Genetics 2017 被引用: 221
- Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity
著者: Gregory Costain, Susan Walker, Maria Marano, Danielle Veenma, Meaghan Snell, Meredith Curtis, Stephanie Luca, Jason Buera, Danielle Arje, Miriam S. Reuter, Bhooma Thiruvahindrapuram, Brett Trost, Wilson W. L. Sung, Ryan K. C. Yuen, David Chitayat, Roberto Mendoza‐Londono, Dimitri J. Stavropoulos, Stephen W. Scherer, Christian R. Marshall, Ronald D. Cohn, Eyal Cohen, Julia Orkin, M. Stephen Meyn, Robin Z. Hayeems - JAMA Network Open 2020 被引用: 97
- Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine
著者: Dimitri J. Stavropoulos, Daniele Merico, Rebekah Jobling, Sarah Bowdin, Nasim Monfared, Bhooma Thiruvahindrapuram, Thomas Nalpathamkalam, Giovanna Pellecchia, Ryan K. C. Yuen, Michael J. Szego, Robin Z. Hayeems, Randi Zlotnik Shaul, Michael Brudno, Marta Gîrdea, Brendan J. Frey, Babak Alipanahi, Sohnee Ahmed, Riyana Babul‐Hirji, Ramses Badilla Porras, Melissa T. Carter, Lauren Chad, Ayeshah Chaudhry, David Chitayat, Soghra Jougheh Doust, Cheryl Cytrynbaum, Lucie Dupuis, Resham Ejaz, Leona Fishman, Andrea Guerin, Bita Hashemi, Mayada Helal, Stacy Hewson, Michal Inbar‐Feigenberg, Pekka Kannus, Natalya Karp, Raymond H. Kim, Jonathan B. Kronick, Eriskay Liston, H. Robson MacDonald, Saadet Mercimek‐Mahmutoglu, Roberto Mendoza‐Londono, Enas Nasr, Graeme Nimmo, Nicole Parkinson, Nada Quercia, Julian Raiman, Maian Roifman, Andreas Schulze, Andrea Shugar, Cheryl Shuman, Pierre Sinajon, Komudi Siriwardena, Rosanna Weksberg, Grace Yoon, Chris Carew, Raith Erickson, Richard A. Leach, Robert J. Klein, Peter N. Ray, M. Stephen Meyn, Stephen W. Scherer, Ronald D. Cohn, Christian R. Marshall - npj Genomic Medicine 2016 被引用: 377
- Mapping the cellular origin and early evolution of leukemia in Down syndrome
著者: Elvin Wagenblast, Joana Araújo, Olga I. Gan, Sarah K. Cutting, Alex Murison, Gabriela Krivdova, Maria Azkanaz, Jessica McLeod, Sabrina Smith, Blaise Gratton, Sajid A. Marhon, Martino Gabra, Jessie J.F. Medeiros, Sanaz Manteghi, Jian Chen, Michelle Chan‐Seng‐Yue, Laura García‐Prat, Leonardo Salmena, Daniel D. De Carvalho, Sagi Abelson, Mohamed Abdelhaleem, Karen Chong, Maian Roifman, Patrick Shannon, Jean Wang, Johann Hitzler, David Chitayat, John E. Dick, Eric R. Lechman - Science 2021 被引用: 89
- PhenoTips: Patient Phenotyping Software for Clinical and Research Use
著者: Marta Gîrdea, Sergiu Dumitriu, Marc Fiume, Sarah Bowdin, Kym M. Boycott, Sébastien Chénier, David Chitayat, Hanna Faghfoury, M. Stephen Meyn, Peter N. Ray, Joyce So, Dimitri J. Stavropoulos, Michael Brudno - Human Mutation 2013 被引用: 258
- Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care
著者: Sarah L. Sawyer, Taila Hartley, David A. Dyment, Chandree L. Beaulieu, Jeremy Schwartzentruber, Amanda Smith, H. Melanie Bedford, Geneviève Bernard, François P. Bernier, Bernard Brais, Dennis E. Bulman, Jodi Warman‐Chardon, David Chitayat, Johnny Deladoëy, Bridget A. Fernandez, Patrick Frosk, Michael T. Geraghty, Brenda Gerull, William T. Gibson, Robert M. Gow, Gail E. Graham, Jane S. Green, Elise Héon, Gabriella Horváth, A. Micheil Innes, Nada Jabado, Raymond H. Kim, R. K. Koenekoop, Aneal Khan, Ordan J. Lehmann, Roberto Mendoza‐Londono, Jacques L. Michaud, Sarah M. Nikkel, Lynette S. Penney, Constantin Polychronakos, Julie Richer, Guy A. Rouleau, Mark E. Samuels, Victoria Mok Siu, Oksana Suchowersky, Mark A. Tarnopolsky, Grace Yoon, Farah Zahir, Jacek Majewski, Kym M. Boycott - Clinical Genetics 2015 被引用: 392
- Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature
著者: Dmitrijs Rots, Eric Chater‐Diehl, Alexander J.M. Dingemans, Sarah J. Goodman, Michelle T. Siu, Cheryl Cytrynbaum, Sanaa Choufani, Ny Hoang, Susan Walker, Zain Awamleh, Joshua Charkow, M. Stephen Meyn, Rolph Pfundt, Tuula Rinne, Thatjana Gardeitchik, Bert B.A. de Vries, A. Chantal Deden, Erika Leenders, Michael Kwint, Constance T. R. M. Stumpel, Servi J.C. Stevens, Jeroen R. Vermeulen, Jeske van Harssel, Daniëlle G.M. Bosch, Koen L.I. van Gassen, Ellen van Binsbergen, Christa M. de Geus, Hein Brackel, Maja Hempel, Davor Lessel, Jonas Denecke, Anne Slavotinek, Jonathan B. Strober, Amy Crunk, Leandra Folk, Ingrid M. Wentzensen, Hui Yang, Fanggeng Zou, Francisca Millan, Richard Person, Yili Xie, Shuxi Liu, Lilian Bomme Ousager, Martin J. Larsen, Laura Schultz‐Rogers, Éva Morava, Eric W. Klee, Ian Berry, Jennifer Campbell, Kristin Lindstrom, Brianna Pruniski, Ann M. Neumeyer, Jessica A. Radley, Chanika Phornphutkul, Berkley Schmidt, William G. Wilson, Katrin Õunap, Karit Reinson, Sander Pajusalu, Arie van Haeringen, Claudia Ruivenkamp, Roos Cuperus, Fernando Santos‐Simarro, María Palomares‐Bralo, Marta Pacio‐Míguez, Alyssa Ritter, Elizabeth Bhoj, Elin Tønne, Kristian Tveten, Gerarda Cappuccio, Nicola Brunetti‐Pierri, Leah J. Rowe, Jason Bunn, Margarita Sáenz, Konrad Platzer, Mareike Mertens, Oana Caluseriu, Małgorzata J.M. Nowaczyk, Ronald D. Cohn, Pekka Kannus, Ebba Alkhunaizi, David Chitayat, Stephen W. Scherer, Han G. Brunner, Lisenka E.L.M. Vissers, Tjitske Kleefstra, David A. Koolen, Rosanna Weksberg - The American Journal of Human Genetics 2021 被引用: 71
- Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused byRASA1 mutations
著者: Nicole Revençu, Laurence M. Boon, John B. Mulliken, O Enjolras, Maria Cordisco, Patricia E. Burrows, Philippe Clapuyt, Frank Hammer, Josée Dubois, Eulàlia Baselga, Francesco Brancati, Robin Carder, José Miguel Ceballos Quintal, Bruno Dallapiccola, Gayle Fischer, Ilona J. Frieden, Maria C. Garzón, John Harper, Jennifer Johnson-Patel, Christine Labrèze, Loreto Martorell, Harriet J. Paltiel, Annette Pohl, Julie Prendiville, I. Quéré, Dawn H. Siegel, Enza Maria Valente, Annet van Hagen, Liselot van Hest, Keith K. Vaux, Asunción Vicente, Lisa Weibel, David Chitayat, Miikka Vikkula - Human Mutation 2008 被引用: 430
- Genotype–phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency
著者: Maria I. New, Moolamannil Abraham, Brian D. Gonzalez, Miroslav Dumić, Maryam Razzaghy‐Azar, David Chitayat, Li Sun, Mone Zaidi, Robert Wilson, Tony Yuen - National Academy of Sciences, Proceedings of the National Academy of Sciences 2013 被引用: 361
- Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus
著者: Beverley Anderson, Paul R. Kasher, Joséphine Mayer, Marcin Szynkiewicz, Emma M. Jenkinson, Sanjeev S. Bhaskar, Jill Urquhart, Sarah B. Daly, Jonathan E. Dickerson, James O’Sullivan, Elisabeth Oppliger Leibundgut, Joanne Muter, Ghada M H Abdel-Salem, Riyana Babul‐Hirji, Peter Baxter, Andrea Berger, Luisa Bonafé, Janice E Brunstom-Hernandez, Johannes Buckard, David Chitayat, W.K. Chong, Duccio Maria Cordelli, Patrick Ferreira, Joël Fluss, Ewan Forrest, Emilio Franzonı, Caterina Garone, Simon Hammans, Gunnar Houge, Imelda Hughes, Sébastien Jacquemont, Pierre‐Yves Jeannet, Rosalind J Jefferson, Ram Kumar, G Kutschke, Staffan Lundberg, Charles Marques Lourenço, Ramesh Mehta, Sakkubai Naidu, Ken K. Nischal, Luís Nunes, Katrin Õunap, Michel Philippart, Prab Prabhakar, Sarah Risen, Raphael Schiffmann, Calvin Soh, John B.P. Stephenson, Helen Stewart, Jon Stone, John Tolmie, Marjo S. van der Knaap, José Pedro Vieira, Catheline Vilain, Emma Wakeling, Vanessa Wermenbol, Andrea Whitney, Simon C. Lovell, Stefan Meyer, John H. Livingston, Gabriela M. Baerlocher, Graeme C. Black, Gillian Rice, Yanick J. Crow - Nature Genetics 2012 被引用: 291
- Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development
著者: Silvia Cappello, Mary Jane Gray, Caroline Badouel, Simona Lange, Melanie Einsiedler, Myriam Srour, David Chitayat, Fadi F. Hamdan, Zandra A. Jenkins, Tim Morgan, Nadia Preitner, Tami Uster, Jackie Thomas, Patrick Shannon, Victoria Morrison, Nataliya Di Donato, Lionel Van Maldergem, Teresa Neuhann, Ruth Newbury‐Ecob, Marielle Swinkells, Pauline Terhal, Louise C. Wilson, Petra Zwijnenburg, Andrew J. Sutherland‐Smith, Michael A. Black, David Markie, Jacques L. Michaud, Michael A. Simpson, Sahar Mansour, Helen McNeill, Magdalena Götz, Stephen P. Robertson - Nature Genetics 2013 被引用: 287
- Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP
著者: Anke Van Dijck, Anneke T. Vulto‐van Silfhout, Elisa Cappuyns, Ilse M. van der Werf, Grazia M.S. Mancini, Andreas Tzschach, Raphael Bernier, Illana Gozes, Evan E. Eichler, Corrado Romano, Anna Lindstrand, Ann Nordgren, Madhura Bakshi, Meredith Wilson, Yemina Berman, Rebecca Dickson, Erik Fransén, Céline Helsmoortel, Jenneke van den Ende, Nathalie Van der Aa, Marina J. van de Wijdeven, Jessica Rosenblum, Fabíola Paoli Monteiro, Fernando Kok, Nada Quercia, Sarah Bowdin, David A. Dyment, David Chitayat, Ebba Alkhunaizi, Susanne E. Boonen, Boris Keren, Aurélia Jacquette, Laurence Faivre, Stéphane Bezieau, Bertrand Isidor, Angelika Rieß, Ute Moog, Sally Ann Lynch, Terri McVeigh, Orly Elpeleg, Marie Falkenberg Smeland, Madeleine Fannemel, Arie van Haeringen, Saskia M. Maas, Hermine E. Veenstra‐Knol, Meyke Schouten, Marjolein H. Willemsen, Carlo Marcelis, Charlotte W. Ockeloen, Ineke van der Burgt, Ilse Feenstra, Jasper van der Smagt, Aleksandra Jezela‐Stanek, Małgorzata Krajewska‐Walasek, Domingo González‐Lamuño, Britt‐Marie Anderlid, Helena Malmgren, Magnus Nordenskjöld, Emma Clement, Jane A. Hurst, Kay Metcalfe, Sahar Mansour, Katherine Lachlan, Jill Clayton‐Smith, Laura G. Hendon, Omar Abdul‐Rahman, Eric M. Morrow, Clare McMillan, Jennifer Gerdts, Joseph Peeden, Samantha A. Schrier Vergano, Caitlin Valentino, Wendy K. Chung, Jillian R. Ozmore, Sandra Bedrosian‐Sermone, Anna Dennis, Kayla Treat, Susan Hughes, Nicole P. Safina, Jean‐Baptiste Le Pichon, Marianne McGuire, Elena Infante, Suneeta Madan‐Khetarpal, Sonal Desai, Paul J. Benke, Alyson Krokosky, Ingrid Cristian, Laura Baker, Karen W. Gripp, Holly A.F. Stessman, Jacob A. Eichenberger, Parul Jayakar, Amy Pizzino, Melanie A. Manning, Leah Slattery, Malin Kvarnung, Tjitske Kleefstra, Bert B.A. de Vries, Sébastien Küry, Jill A. Rosenfeld ほか 3 名 - Biological Psychiatry 2018 被引用: 182
- Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes
著者: Marcello Scala, Masashi Nishikawa, Hidenori Ito, Hidenori Tabata, Tayyaba Khan, Andrea Accogli, Laura Davids, Anna Ruiz, Pietro Chiurazzi, Gabriella Cericola, Björn Schulte, Kristin G. Monaghan, Amber Begtrup, Annalaura Torella, Michele Pinelli, Anne‐Sophie Denommé‐Pichon, Antonio Vitobello, Caroline Racine, Maria Margherita Mancardi, Courtney Kiss, Andrea Guerin, Wendy Wu, Elisabeth Gabau Vila, Bryan C. Mak, Julián A. Martínez-Agosto, Michael B. Gorin, Bugrahan Duz, Yavuz Bayram, Claudia M.B. Carvalho, Jaime E Vengoechea, David Chitayat, Tiong Yang Tan, Bert Callewaert, Bernd Kruse, Lynne M. Bird, Laurence Faivre, Marcella Zollino, Saskia Biskup, Undiagnosed Diseases Network, Gabrielle Brown, Manish J. Butte, Esteban C. Dell’Angelica, Naghmeh Dorrani, Emilie D. Douine, Brent L. Fogel, Irma Gutierrez, Alden Huang, Deborah Krakow, Hane Lee, Sandra K. Loo, Bryan C. Mak, Martín G. Martín, Julián A. Martínez-Agosto, Elisabeth McGee, Stanley F. Nelson, Shirley Nieves‐Rodriguez, Christina G.S. Palmer, Jeanette C. Papp, Neil H. Parker, Genecee Renteria, Janet S. Sinsheimer, Jijun Wan, Lee-kai Wang, Katherine Wesseling Perry, Telethon Undiagnosed Diseases Program, Vincenzo Nigro, Nicola Brunetti‐Pierri, Giorgio Casari, Gerarda Cappuccio, Annalaura Torella, Michele Pinelli, Francesco Musacchia, Margherita Mutarelli, Diego Carrella, Giuseppina Vitiello, Valeria Capra, Giancarlo Parenti, Vincenzo Leuzzi, Angelo Selicorni, Silvia Maitz, Sandro Banfi, Marcella Zollino, Mario Montomoli, Donatelli Milani, Corrado Romano, Albina Tummolo, Daniele De Brasi, Antonietta Coppola, Claudia Santoro, Angela Peron, Chiara Pantaleoni, Raffaele Castello, Stefano D’Arrigo, Pasquale Striano, Vincenzo Nigro, Mariasavina Severino, Valeria Capra, Gregory Costain, Koh Nagata - Brain 2022 被引用: 51
- Mutations in EZH2 Cause Weaver Syndrome
著者: William T. Gibson, Rebecca L. Hood, Shing H. Zhan, Dennis E. Bulman, Anthony P. Fejes, Richard A. Moore, Andrew J. Mungall, Patrice Eydoux, Riyana Babul‐Hirji, Jianghong An, Marco A. Marra, David Chitayat, Kym M. Boycott, David D. Weaver, Steven J.M. Jones - The American Journal of Human Genetics 2011 被引用: 328
- Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration
著者: Jijun Wan, Michael Yourshaw, Hafsa Mamsa, Sabine Rudnik‐Schöneborn, Manoj P. Menezes, Ji Eun Hong, Derek W. Leong, Jan Senderek, Michael S. Salman, David Chitayat, Pavel Seeman, Arpad von Moers, Luitgard Graul‐Neumann, Andrew J. Kornberg, Manuel Castro‐Gago, María Jesús Sobrido, Masafumi Sanefuji, Perry B. Shieh, Noriko Salamon, Ronald C. Kim, Harry V. Vinters, Zugen Chen, Klaus Zerres, Monique M. Ryan, Stanley F. Nelson, Joanna C. Jen - Nature Genetics 2012 被引用: 262
- CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions
著者: Darci T. Butcher, Cheryl Cytrynbaum, Andrei L. Turinsky, Michelle T. Siu, Michal Inbar‐Feigenberg, Roberto Mendoza‐Londono, David Chitayat, Susan Walker, Jerry Machado, Oana Caluseriu, Lucie Dupuis, Daria Grafodatskaya, William Reardon, Brigitte Gilbert‐Dussardier, Alain Verloès, Frédéric Bilan, Jeff M. Milunsky, Raveen Basran, Blake C. Papsin, Tracy Stockley, Stephen W. Scherer, Sanaa Choufani, Michael Brudno, Rosanna Weksberg - The American Journal of Human Genetics 2017 被引用: 206
- A POT1 mutation implicates defective telomere end fill-in and telomere truncations in Coats plus
著者: Hiroyuki Takai, Emma M. Jenkinson, Shaheen Kabir, Riyana Babul‐Hirji, Nasrin Najm-Tehrani, David Chitayat, Yanick J. Crow, Titia de Lange - Genes & Development 2016 被引用: 107
- Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients
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