Rolph Pfundt

Active 1996–2025

171
Papers
18,374
Citations
81
h-index
161
i10-index

Citations

Citations per year for Rolph Pfundt1998: 2 citations1999: 2 citations2000: 4 citations2001: 3 citations2002: 2 citations2003: 6 citations2004: 3 citations2005: 17 citations2006: 38 citations2007: 90 citations2008: 77 citations2009: 114 citations2010: 135 citations2011: 140 citations2012: 142 citations2013: 130 citations2014: 115 citations2015: 196 citations2016: 170 citations2017: 181 citations2018: 204 citations2019: 612 citations2020: 653 citations2021: 727 citations2022: 603 citations2023: 440 citations2024: 698 citations2025: 311 citations2026: 9 citations

Citation sources

Countries

World map of the countries and regions citing this authorUnited States: 2,437 citing papers, 21.8% of this breakdownUnited Kingdom: 940 citing papers, 8.4% of this breakdownNetherlands: 764 citing papers, 6.9% of this breakdownGermany: 731 citing papers, 6.6% of this breakdownFrance: 551 citing papers, 4.9% of this breakdownChina: 549 citing papers, 4.9% of this breakdownCanada: 539 citing papers, 4.8% of this breakdownItaly: 491 citing papers, 4.4% of this breakdownAustralia: 361 citing papers, 3.2% of this breakdownSpain: 313 citing papers, 2.8% of this breakdownBelgium: 258 citing papers, 2.3% of this breakdownJapan: 235 citing papers, 2.1% of this breakdown
0%21.8%Other 26.9%

Fields

  • Biochemistry, Genetics and Molecular Biology71.7%
  • Medicine16.5%
  • Neuroscience7.5%
  • Immunology and Microbiology1.9%
  • Agricultural and Biological Sciences0.8%
  • Psychology0.5%
  • Other1.1%

Topics

  • Genomics and Rare Diseases9.1%
  • Genomic variations and chromosomal abnormalities8.7%
  • Genetics and Neurodevelopmental Disorders7.5%
  • Congenital heart defects research2.9%
  • Autism Spectrum Disorder Research2.4%
  • RNA modifications and cancer2.3%
  • Other67.1%

Coauthors

All papers

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  1. Evidence for 28 genetic disorders discovered by combining healthcare and research data

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 and 182 more - Nature 2020 cited by 692

  2. Refining analyses of copy number variation identifies specific genes associated with developmental delay

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 cited by 758

  3. Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 cited by 339

  4. The performance of genome sequencing as a first-tier test for neurodevelopmental disorders

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , - European Journal of Human Genetics 2022 cited by 94

  5. Genome sequencing identifies major causes of severe intellectual disability

    Authors: , , , , , , , , , , , , , , , , , , , , - Nature 2014 cited by 1,159

  6. PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Marcel van Gerven, Lisenka E.L.M. Vissers, Bert B.A. de Vries - Nature Genetics 2023 cited by 74

  7. Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

    Authors: , , , , , , , , , , , , , , , , , , , , , - Nature Neuroscience 2016 cited by 465

  8. Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

    Authors: , , , , , , , , , , , , , , , , , , , , - Genetics in Medicine 2016 cited by 199

  9. A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology

    Authors: , , , , , , , , , , , , , - Genetics in Medicine 2017 cited by 283

  10. Clinical exome sequencing—Mistakes and caveats

    Authors: , , , , , , - Human Mutation 2022 cited by 89

  11. Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , - The American Journal of Human Genetics 2018 cited by 136

  12. Germline AGO2 mutations impair RNA interference and human neurological development

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 cited by 102

  13. Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 cited by 88

  14. Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications

    Authors: , , , , , , , , , , , , , , , , , - Genome Medicine 2022 cited by 59

  15. Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 cited by 91

  16. Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 cited by 71

  17. YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 cited by 170

  18. Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder

    Authors: , , , , , , , , , , , , , , , , , , - PLoS Genetics 2017 cited by 166

  19. Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 and 112 more - The American Journal of Human Genetics 2018 cited by 91

  20. Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging

    Authors: , , , , , , , , , , , , , , , , , , , , , , , - Prenatal Diagnosis 2020 cited by 86

  21. CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 cited by 42

  22. 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

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 cited by 28

  23. Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability

    Authors: , , , , , , , , , , , - Journal of Biological Chemistry 2017 cited by 106

  24. Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Arthur J. Campbell, Dennis Lal, Sampathkumar Rangasamy, Jean‐Louis Mandel, Vinodh Narayanan, Matt Huentelman, Dominique Weil, Amélie Piton - The American Journal of Human Genetics 2019 cited by 86