Rolph Pfundt

1996–2025 年に発表

171: 論文数
18,374: 被引用数
81: h 指数
161: i10 指数

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0%21.8%その他 26.9%

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Evidence for 28 genetic disorders discovered by combining healthcare and research data
著者: Joanna Kaplanis, Kaitlin E. Samocha, Laurens Wiel, Zhancheng Zhang, Kevin J. Arvai, Ruth Y. Eberhardt, Giuseppe Gallone, Stefan H. Lelieveld, Hilary C. Martin, Jeremy F. McRae, Patrick Short, Rebecca I. Torene, Elke de Boer, Petr Danecek, Eugene J. Gardner, Ni Huang, Jenny Lord, Iñigo Martincorena, Rolph Pfundt, Margot R.F. Reijnders, Alison Yeung, Helger G. Yntema, Deciphering Developmental Disorders Study, Sílvia Borràs, Caroline Clark, John Dean, Zosia Miedzybrodzka, Alison Ross, Stephen Tennant, Tabib Dabir, Deirdre Donnelly, Mervyn Humphreys, Alex Magee, Vivienne McConnell, Shane McKee, Susan McNerlan, Patrick J. Morrison, Gillian Rea, Fiona Stewart, Trevor Cole, Nicola Cooper, Lisa Cooper‐Charles, Helen Cox, Lily Islam, Joanna Jarvis, Rebecca Keelagher, Derek Lim, Dominic McMullan, Jenny Morton, Swati Naik, Mary O’Driscoll, Kai‐Ren Ong, Deborah Osio, Nicola Ragge, Sarah Turton, Julie Vogt, Denise Williams, Simon Bodek, Alan Donaldson, Alison Hills, Karen Low, Ruth Newbury‐Ecob, Andrew Norman, Eileen Roberts, Ingrid Scurr, Sarah Smithson, Madeleine Tooley, Steve Abbs, Ruth Armstrong, Carolyn Dunn, Simon Holden, Soo‐Mi Park, Joan Paterson, Lucy Raymond, Evan Reid, Richard Sandford, Ingrid Simonic, Marc Tischkowitz, Geoff Woods, Lisa Bradley, Joanne Comerford, Andrew Green, Sally Ann Lynch, Shirley McQuaid, Brendan Mullaney, Jonathan Berg, David Goudie, Eleni Mavrak, Joanne McLean, Catherine McWilliam, Eleanor Reavey, Tara Azam, Elaine Cleary, Andrew P. Jackson, Wayne Lam, Anne Lampe, David Moore, Mary Porteous, Emma L. Baple, Júlia Baptista ほか 182 名 - Nature 2020 被引用: 692
Refining analyses of copy number variation identifies specific genes associated with developmental delay
著者: Bradley P. Coe, Kali Witherspoon, Jill A. Rosenfeld, Bregje W.M. van Bon, Anneke T. Vulto‐van Silfhout, Paolo Bosco, Kathryn Friend, Carl Baker, Serafino Buono, Lisenka E.L.M. Vissers, Janneke Schuurs-Hoeijmakers, Alexander Hoischen, Rolph Pfundt, Nik Krumm, Gemma L. Carvill, Deana Li, David G. Amaral, Natasha J. Brown, Paul J. Lockhart, Ingrid E. Scheffer, A Alberti, Marie Shaw, Rosa Pettinato, Raymond C. Tervo, Nicole de Leeuw, Margot R.F. Reijnders, Beth S. Torchia, Hilde Peeters, Elizabeth Thompson, Brian J. O’Roak, Marco Fichera, Jayne Y. Hehir‐Kwa, Jay Shendure, Heather C. Mefford, Eric Haan, Jozef Gécz, Bert B A de Vries, Corrado Romano, Evan E Eichler - Nature Genetics 2014 被引用: 758
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling
著者: Lot Snijders Blok, Erik Madsen, Jane Juusola, Christian Gilissen, Diana Baralle, Margot R.F. Reijnders, Hanka Venselaar, Céline Helsmoortel, Megan T. Cho, Alexander Hoischen, Lisenka E.L.M. Vissers, Tom S. Koemans, W.M. Wissink-Lindhout, Evan E. Eichler, Corrado Romano, Hilde Van Esch, Connie T. R. M. Stumpel, Maaike Vreeburg, Eric Smeets, Karin Oberndorff, Bregje W.M. van Bon, Marie Shaw, Jozef Gécz, Eric Haan, Melanie Bienek, Corinna Jensen, Bart Loeys, Anke Van Dijck, A. Micheil Innes, Hilary Racher, Sascha Vermeer, Nataliya Di Donato, Andreas Rump, Katrina Tatton‐Brown, Michael Parker, Alex Henderson, Sally Ann Lynch, Alan Fryer, Alison Ross, Pradeep Vasudevan, Usha Kini, Ruth Newbury‐Ecob, Kate Chandler, Alison Male, Sybe Dijkstra, Jolanda Schieving, Jacques C. Giltay, Koen L.I. van Gassen, Janneke Schuurs-Hoeijmakers, Perciliz L. Tan, Igor Pediaditakis, Stefan A. Haas, Kyle Retterer, Patrick Reed, Kristin G. Monaghan, Eden Haverfield, Marvin R. Natowicz, Angela Myers, Michael C. Kruer, Quinn Stein, Kevin A. Strauss, Karlla W. Brigatti, Katherine E. Keating, Barbara K. Burton, Katherine H. Kim, Joel Charrow, Jennifer Norman, Audrey Foster‐Barber, Antonie D. Kline, Amy Kimball, Elaine H. Zackai, Margaret Harr, Joyce E. Fox, Julie McLaughlin, Kristin Lindstrom, Katrina Haude, Kees van Roozendaal, Han G. Brunner, Wendy K. Chung, R. Frank Kooy, Rolph Pfundt, Vera M. Kalscheuer, Sarju Mehta, Nicholas Katsanis, Tjitske Kleefstra - The American Journal of Human Genetics 2015 被引用: 339
The performance of genome sequencing as a first-tier test for neurodevelopmental disorders
著者: Bart van der Sanden, Gaby Schobers, Jordi Corominas Galbany, David A. Koolen, Margje Sinnema, Jeroen van Reeuwijk, Connie T. R. M. Stumpel, Tjitske Kleefstra, Bert B.A. de Vries, Martina Ruiterkamp‐Versteeg, Nico Leijsten, Michael Kwint, Ronny Derks, Hilde Swinkels, Amber den Ouden, Rolph Pfundt, Tuula Rinne, Nicole de Leeuw, Alexander P.A. Stegmann, Servi J.C. Stevens, Arthur van den Wijngaard, Han G. Brunner, Helger G. Yntema, Christian Gilissen, Marcel Nelen, Lisenka E.L.M. Vissers - European Journal of Human Genetics 2022 被引用: 94
Genome sequencing identifies major causes of severe intellectual disability
著者: Christian Gilissen, Jayne Y. Hehir‐Kwa, Djie Tjwan Thung, Maartje van de Vorst, Bregje W.M. van Bon, Marjolein H. Willemsen, Michael Kwint, Irene M. Janssen, Alexander Hoischen, Annette Schenck, Richard A. Leach, Robert J. Klein, Rick Tearle, Tan Bo, Rolph Pfundt, Helger G. Yntema, Bert B.A. de Vries, Tjitske Kleefstra, Han G. Brunner, Lisenka E.L.M. Vissers, Joris A. Veltman - Nature 2014 被引用: 1,159
PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework
著者: Alexander J.M. Dingemans, Max Hinne, Kim M. G. Truijen, Lia Goltstein, Jeroen van Reeuwijk, Nicole de Leeuw, Janneke Schuurs-Hoeijmakers, Rolph Pfundt, Illja J. Diets, Joery den Hoed, Elke de Boer, Jet van der Spek, Sandra Jansen, Bregje W.M. van Bon, Noraly Jonis, Charlotte W. Ockeloen, Anneke T. Vulto-van Silfhout, Tjitske Kleefstra, David A. Koolen, Philippe M. Campeau, Elizabeth E. Palmer, Hilde Van Esch, Gholson J. Lyon, Fowzan S. Alkuraya, Anita Rauch, Ronit Marom, Diana Baralle, Pleuntje J. van der Sluijs, Gijs W.E. Santen, R. Frank Kooy, Marcel van Gerven, Lisenka E.L.M. Vissers, Bert B.A. de Vries - Nature Genetics 2023 被引用: 74
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability
著者: Stefan H. Lelieveld, Margot R.F. Reijnders, Rolph Pfundt, Helger G. Yntema, Erik‐Jan Kamsteeg, Petra de Vries, Bert B.A. de Vries, Marjolein H. Willemsen, Tjitske Kleefstra, Katharina Löhner, Maaike Vreeburg, Servi J.C. Stevens, Ineke van der Burgt, Ernie M.H.F. Bongers, Alexander P.A. Stegmann, Patrick Rump, Tuula Rinne, Marcel Nelen, Joris A. Veltman, Lisenka E.L.M. Vissers, Han G. Brunner, Christian Gilissen - Nature Neuroscience 2016 被引用: 465
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders
著者: Rolph Pfundt, Marisol del Rosario, Lisenka E.L.M. Vissers, Michael Kwint, Irene M. Janssen, Nicole de Leeuw, Helger G. Yntema, Marcel Nelen, Dorien Lugtenberg, Erik‐Jan Kamsteeg, Nienke Wieskamp, Alexander P.A. Stegmann, Servi J.C. Stevens, Richard J. Rodenburg, Annet Simons, Arjen R. Mensenkamp, Tuula Rinne, Christian Gilissen, Hans Scheffer, Joris A. Veltman, Jayne Y. Hehir‐Kwa - Genetics in Medicine 2016 被引用: 199
A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology
著者: Lisenka E.L.M. Vissers, K.J.M. van Nimwegen, Jolanda Schieving, Erik-Jan Kamsteeg, Tjitske Kleefstra, Helger G. Yntema, Rolph Pfundt, Gert Jan van der Wilt, Lotte Krabbenborg, Han G. Brunner, Simone van der Burg, Janneke P.C. Grutters, Joris A. Veltman, Michèl A.A.P. Willemsen - Genetics in Medicine 2017 被引用: 283
Clinical exome sequencing—Mistakes and caveats
著者: Jordi Corominas, Sanne P. Smeekens, Marcel Nelen, Helger G. Yntema, Erik‐Jan Kamsteeg, Rolph Pfundt, Christian Gilissen - Human Mutation 2022 被引用: 89
Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior
著者: Arjan P.M. de Brouwer, Rami Abou Jamra, Nadine Körtel, Clara Soyris, D.L. Polla, Modi Safra, Avia Zisso, Christopher A. Powell, Pedro Rebelo‐Guiomar, Nadja Dinges, Violeta Morı́n, Michael Stock, Mureed Hussain, Mohsin Shahzad, Saima Riazuddin, Zubair M. Ahmed, Rolph Pfundt, F. Schwarz, Lonneke de Boer, André Reis, Detelina Grozeva, F. Lucy Raymond, Sheikh Riazuddin, David A. Koolen, Michal Minczuk, Jean‐Yves Roignant, Hans van Bokhoven, Schraga Schwartz - The American Journal of Human Genetics 2018 被引用: 136
Germline AGO2 mutations impair RNA interference and human neurological development
著者: Davor Lessel, Daniela M. Zeitler, Margot R.F. Reijnders, Andriy Kazantsev, Fatemeh Hassani Nia, Alexander Bartholomäus, Victoria Martens, Astrid Bruckmann, Veronika Graus, Allyn McConkie‐Rosell, Marie McDonald, Bernarda Lozić, Ee‐Shien Tan, Erica H. Gerkes, Jessika Johannsen, Jonas Denecke, Aida Telegrafi, Evelien Zonneveld‐Huijssoon, Henny H. Lemmink, Breana Cham, Tanja Kovačević, Linda Ramsdell, Kimberly Foss, Diana Le Duc, Diana Mitter, Steffen Syrbe, Andreas Merkenschlager, Margje Sinnema, Bianca Panis, Joanna Lazier, Matthew Osmond, Taila Hartley, Jérémie Mortreux, Tiffany Busa, Chantal Missirian, Pankaj Prasun, Sabine Lüttgen, Ilaria Mannucci, Ivana Lessel, Claudia Schob, Stefan Kindler, John Pappas, Rachel Rabin, Marjolein H. Willemsen, Thatjana Gardeitchik, Katharina Löhner, Patrick Rump, Kerith‐Rae Dias, Carey‐Anne Evans, P. Ian Andrews, Tony Roscioli, Han G. Brunner, Chieko Chijiwa, M. E. Suzanne Lewis, Rami Abou Jamra, David A. Dyment, Kym M. Boycott, Alexander P.A. Stegmann, Christian Kubisch, Ene‐Choo Tan, Ghayda Mirzaa, Kirsty McWalter, Tjitske Kleefstra, Rolph Pfundt, Zoya Ignatova, Gunter Meister, Hans‐Jürgen Kreienkamp - Nature Communications 2020 被引用: 102
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies
著者: Hanyin Cheng, Avinash V. Dharmadhikari, Sylvia Varland, Nan Ma, Deepti Domingo, Robert Kleyner, Alan F. Rope, Margaret S. Yoon, Asbjørg Stray‐Pedersen, Jennifer E. Posey, Sarah R. Crews, Mohammad K. Eldomery, Zeynep Coban‐Akdemir, Andrea M. Lewis, V. Reid Sutton, Jill A. Rosenfeld, Erin Conboy, Katherine Agre, Fan Xia, Magdalena Walkiewicz, Mauro Longoni, Frances A. High, Marjon A. van Slegtenhorst, Grazia M.S. Mancini, Candice R. Finnila, Arie van Haeringen, Nicolette S. den Hollander, Claudia Ruivenkamp, Sakkubai Naidu, Sonal Mahida, Elizabeth E. Palmer, Lucinda Murray, Derek Lim, Parul Jayakar, Michael Parker, Stefania Giusto, Emanuela Stracuzzi, Corrado Romano, Jennifer S. Beighley, Raphael Bernier, Sébastien Küry, Mathilde Nizon, Mark Corbett, Marie Shaw, Alison Gardner, Christopher Barnett, Ruth Armstrong, Karin S. Kassahn, Anke Van Dijck, Geert Vandeweyer, Tjitske Kleefstra, Jolanda Schieving, Marjolijn J. Jongmans, Bert B.A. de Vries, Rolph Pfundt, Bronwyn Kerr, Samantha K. Rojas, Kym M. Boycott, Richard Person, Rebecca Willaert, Evan E. Eichler, R. Frank Kooy, Yaping Yang, Joseph C. Wu, James R. Lupski, Thomas Arnesen, Gregory M. Cooper, Wendy K. Chung, Jozef Gécz, Holly A.F. Stessman, Linyan Meng, Gholson J. Lyon - The American Journal of Human Genetics 2018 被引用: 88
Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications
著者: Gaby Schobers, Jolanda Schieving, Helger G. Yntema, Maartje Pennings, Rolph Pfundt, Ronny Derks, Tom Hofste, Ilse de Wijs, Nienke Wieskamp, Simone van den Heuvel, Jordi Corominas Galbany, Christian Gilissen, Marcel Nelen, Han G. Brunner, Tjitske Kleefstra, Erik‐Jan Kamsteeg, Michèl A.A.P. Willemsen, Lisenka E.L.M. Vissers - Genome Medicine 2022 被引用: 59
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior
著者: Holly K. Harris, Tojo Nakayama, Jenny Lai, Boxun Zhao, Nikoleta Argyrou, Cynthia S. Gubbels, Aubrie Soucy, Casie A. Genetti, Victoria Suslovitch, Lance H. Rodan, George E. Tiller, Gaëtan Lesca, Karen W. Gripp, Reza Asadollahi, Ada Hamosh, Carolyn Applegate, Peter D. Turnpenny, Marleen Simon, Catharina M.L. Volker‐Touw, Koen L.I. van Gassen, Ellen van Binsbergen, Rolph Pfundt, Thatjana Gardeitchik, Bert B.A. de Vries, LaDonna Immken, Catherine A. Buchanan, Marcia Willing, Tomi L. Toler, Emily Fassi, Laura Baker, Fleur Vansenne, Xiadong Wang, Julian L. Ambrus, Madeleine Fannemel, Jennifer E. Posey, Emanuele Agolini, Antonio Novelli, Anita Rauch, Paranchai Boonsawat, Christina Fagerberg, Martin J. Larsen, Maria Kibæk, Audrey Labalme, Alice Poisson, Katelyn Payne, Laurence E. Walsh, Kimberly A. Aldinger, Jorune Balciuniene, Cara Skraban, Christopher Gray, Jill R. Murrell, Caleb Bupp, Giulia Pascolini, Paola Grammatico, Martin Broly, Sébastien Küry, Mathilde Nizon, Iqra Ghulam Rasool, Muhammad Yasir Zahoor, Cornelia Kraus, André Reis, Muhammad Aamir Iqbal, Kévin Uguen, Séverine Audebert‐Bellanger, Claude Férec, Sylvia Redon, Janice Baker, Yunhong Wu, Guiseppe Zampino, Steffan Syrbe, Ines Brösse, Rami Abou Jamra, William B. Dobyns, Lilian Cohen, Anne Blomhoff, Cyril Mignot, Boris Keren, Thomas Courtin, Pankaj B. Agrawal, Alan H. Beggs, Timothy W. Yu - Genetics in Medicine 2021 被引用: 91
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
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction
著者: Michele Gabriele, Anneke T. Vulto‐van Silfhout, Pierre‐Luc Germain, Alessandro Vitriolo, Raman Kumar, Evelyn Douglas, Eric Haan, Kenjiro Kosaki, Toshiki Takenouchi, Anita Rauch, Katharina Steindl, Eirik Frengen, Doriana Misceo, Christeen Ramane J. Pedurupillay, Petter Strømme, Jill A. Rosenfeld, Yunru Shao, William J. Craigen, Christian P. Schaaf, David Rodriguez‐Buritica, Laura S. Farach, Jennifer Friedman, Perla Thulin, Scott McLean, Kimberly Nugent, Jenny Morton, Jillian Nicholl, Joris Andrieux, Asbjørg Stray‐Pedersen, Pascal Chambon, Sophie Patrier, Sally Ann Lynch, Susanne Kjærgaard, Pernille Mathiesen Tørring, Charlotte Brasch‐Andersen, Anne Ronan, Arie van Haeringen, Peter J. Anderson, Zöe Powis, Han G. Brunner, Rolph Pfundt, Janneke Schuurs-Hoeijmakers, Bregje W.M. van Bon, Stefan H. Lelieveld, Christian Gilissen, Willy M. Nillesen, Lisenka E.L.M. Vissers, Jozef Gécz, David A. Koolen, Giuseppe Testa, Bert B.A. de Vries - The American Journal of Human Genetics 2017 被引用: 170
Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder
著者: Tom S. Koemans, Tjitske Kleefstra, Melissa C. Chubak, Max H. Stone, Margot R.F. Reijnders, Sonja de Munnik, Marjolein H. Willemsen, Michaela Fencková, Connie T. R. M. Stumpel, Levinus A. Bok, Margarita Sáenz, Kyna A. Byerly, Linda B. Baughn, Alexander P.A. Stegmann, Rolph Pfundt, Huiqing Zhou, Hans van Bokhoven, Annette Schenck, Jamie M. Kramer - PLoS Genetics 2017 被引用: 166
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay
著者: Keren Machol, Justine Rousseau, Sophie Ehresmann, Thomas X. Garcia, Thi Tuyet Mai Nguyen, Rebecca C. Spillmann, Jennifer A. Sullivan, Vandana Shashi, Yong‐hui Jiang, Nicholas Stong, Elise Fiala, Marcia Willing, Rolph Pfundt, Tjitske Kleefstra, Megan T. Cho, Heather M. McLaughlin, Mónica Roselló Piera, Carmen Orellana, Francisco Martı́nez, Alfonso Caro‐Llopis, Sandra Monfort, Tony Roscioli, Cheng Yee Nixon, Michael F. Buckley, Anne Turner, Wendy D. Jones, Peter M. van Hasselt, Floris C. Hofstede, Koen L.I. van Gassen, Alice S. Brooks, Marjon A. van Slegtenhorst, Katherine Lachlan, Jessica Sebastian, Suneeta Madan‐Khetarpal, Sonal Desai, Sakkubai Naidu, Julien Thévenon, Laurence Faivre, Alice Maurel, Slavé Petrovski, Ian D. Krantz, Jennifer Tarpinian, Jill A. Rosenfeld, Brendan Lee, Philippe M. Campeau, David R. Adams, Mercedes E. Alejandro, Patrick Allard, Mahshid S. Azamian, Carlos A. Bacino, Ashok Balasubramanyam, Hayk Barseghyan, Gabriel F. Batzli, Alan H. Beggs, Babak Behnam, Anna Bican, David Bick, Camille L. Birch, Devon Bonner, Braden Boone, Bret L. Bostwick, Lauren C. Briere, Donna M. Brown, Matthew Brush, Elizabeth A. Burke, Lindsay C. Burrage, Shan Chen, Gary Clark, Terra R. Coakley, Joy D. Cogan, Cynthia M. Cooper, Heidi Cope, William J. Craigen, Precilla D’Souza, Mariska Davids, Jyoti G. Dayal, Esteban C. Dell’Angelica, Shweta U. Dhar, Ani Dillon, Katrina M. Dipple, Laurel A. Donnell‐Fink, Naghmeh Dorrani, Daniel C. Dorset, Emilie D. Douine, David D. Draper, David J. Eckstein, Lisa Emrick, Christine M. Eng, Ascia Eskin, Cecilia Esteves, Tyra Estwick, Carlos R. Ferreira, Brent L. Fogel, Noah D. Friedman, William A. Gahl, Emily Glanton, Rena A. Godfrey, David B. Goldstein, Sarah E. Gould, Jean-Philippe F. Gourdine ほか 112 名 - The American Journal of Human Genetics 2018 被引用: 91
Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging
著者: Chantal Deden, Kornelia Neveling, Dimitra Zafeiropopoulou, Christian Gilissen, Rolph Pfundt, Tuula Rinne, Nicole de Leeuw, Brigitte H. W. Faas, Thatjana Gardeitchik, Suzanne C.E.H. Sallevelt, Aimée Paulussen, Servi J.C. Stevens, Esther Sikkel, Mariet W. Elting, Merel C. van Maarle, Karin E. M. Diderich, Nicole Corsten‐Janssen, Klaske D. Lichtenbelt, Guus Lachmeijer, Lisenka E.L.M. Vissers, Helger G. Yntema, Marcel Nelen, Ilse Feenstra, Wendy A.G. van Zelst–Stams - Prenatal Diagnosis 2020 被引用: 86
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
著者: Charlotte Gehin, Museer A. Lone, Winston Lee, Laura Capolupo, Sylvia Ho, Adekemi M. Adeyemi, Erica H. Gerkes, Alexander P.A. Stegmann, Estrella López‐Martín, Eva Bermejo, Beatriz Martínez–Delgado, Christiane Zweier, Cornelia Kraus, Bernt Popp, Vincent Strehlow, Daniel Gräfe, Ina Knerr, Eppie R. Jones, Stefano Zamuner, Luciano A. Abriata, Vidya Kunnathully, Brandon E. Moeller, Anthony Vocat, Samuel Rommelaere, Jean-Philippe Bocquete, Evelyne Ruchti, Greta Limoni, Marine Van Campenhoudt, Samuel Bourgeat, Petra Henklein, Christian Gilissen, Bregje W.M. van Bon, Rolph Pfundt, Marjolein H. Willemsen, Jolanda Schieving, Emanuela Leonardi, Fiorenza Soli, Alessandra Murgia, Hui Guo, Qiumeng Zhang, Kun Xia, Christina Fagerberg, Christoph P. Beier, Martin J. Larsen, Irene Valenzuela, Paula Fernández‐Álvarez, Shiyi Xiong, Robert Śmigiel, Vanesa López‐González, Lluı́s Armengol, Manuela Morleo, Angelo Selicorni, Annalaura Torella, Moira Blyth, Nicola Cooper, Valerie Wilson, Renske Oegema, Yvan Herenger, Aurore Garde, Ange‐Line Bruel, Frédéric Tran Mau‐Them, Alexis B.R. Maddocks, Jennifer Bain, Musadiq A. Bhat, Gregory Costain, Pekka Kannus, Ashish Marwaha, Neena L. Champaigne, Michael J. Friez, Ellen B. Richardson, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Yask Gupta, Tze Yin Lim, Simone Sanna‐Cherchi, Bruno Lemaître, Toshiyuki Yamaji, Kentaro Hanada, John E. Burke, Ana Marija Jakšić, Brian D. McCabe, Paolo De Los Rios, Thorsten Hornemann, Giovanni D’Angelo, Vincenzo A. Gennarino - Journal of Clinical Investigation 2023 被引用: 42
Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands
著者: Richelle A. C. M. Olde Keizer, Abderrahim Marouane, Wilhelmina S. Kerstjens‐Frederikse, A. Chantal Deden, Klaske D. Lichtenbelt, Tinneke Jonckers, Marieke Vervoorn, Maaike Vreeburg, Lidewij Henneman, Linda S. de Vries, Richard J. Sinke, Rolph Pfundt, Servi J.C. Stevens, Peter Andriessen, Richard A. van Lingen, Marcel Nelen, Hans Scheffer, Daphne Stemkens, Cor Oosterwijk, Hans Kristian Ploos van Amstel, Willem P. de Boode, Wendy A.G. van Zelst–Stams, Geert Frederix, Lisenka E.L.M. Vissers, Lidewij Henneman, Mieke M. van Haelst, Erik A. Sistermans, Martina C. Cornel, Mala Misra‐Isrie, Marcel M. A. M. Mannens, Quinten Waisfisz, Johanna M. van Hagen, Alice S. Brooks, Tahsin Stefan Barakat, Elisabeth H. Hoefsloot, Richard A. van Lingen, Claudia Ruivenkamp, Arie van Haeringen, Saskia Koene, Gijs W.E. Santen, Julie W. Rutten, Bart de Koning, Sam Stevens, Arthur van den Wijngaard, Margje Sinnema, Alexander P.A. Stegmann, Maaike Vreeburg, Marieke Vervoorn, Peter Andriessen, D Kasteel, E. M. Adang, A. Chantal Deden, Han G. Brunner, Willem P. de Boode, Helger G. Yntema, Hans Scheffer, Wendy van Zelst-Stams, Rolph Pfundt, Tjitske Kleefstra, A Marouane, Lisenka E.L.M. Vissers, Tessel Rigter, Wendy Rodenburg, Morris A. Swertz, V.V.A.M. Knoers, Wilhelmina S. Kerstjens‐Frederikse, Richard J. Sinke, K. Joeri van der Velde, Irene M. van Langen, Mariëlle van Gijn, J. Peter van Tintelen, Linda S. de Vries, G. W. J. Frederix, Hans Kristian Ploos van Amstel, Klaske D. Lichtenbelt, Richelle A. C. M. Olde Keizer, Renske Oegema, Cor Oosterwijk, Daphne Stemkens - European Journal of Pediatrics 2023 被引用: 28
Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability
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