Joris A. Veltman
1996–2025 年に発表
- 155
- 論文数
- 32,567
- 被引用数
- 102
- h 指数
- 152
- i10 指数
被引用数
引用元
国・地域
機関
分野
- Biochemistry, Genetics and Molecular Biology60.3%
- Medicine23.9%
- Neuroscience6.9%
- Immunology and Microbiology4.3%
- Psychology1.7%
- Agricultural and Biological Sciences1.2%
- その他1.7%
トピック
- Genomics and Rare Diseases7.2%
- Genomic variations and chromosomal abnormalities6.8%
- Genetics and Neurodevelopmental Disorders5.1%
- Congenital heart defects research2.1%
- Cancer Genomics and Diagnostics1.9%
- Autism Spectrum Disorder Research1.7%
- その他75.2%
共著者
- Christian Gilissen62
- Lisenka E.L.M. Vissers47
- Han G. Brunner42
- Alexander Hoischen38
- Rolph Pfundt25
- Bert B.A. de Vries24
- Ad Geurts van Kessel20
- Irene M. Janssen17
- Manon S. Oud17
- Jayne Y. Hehir‐Kwa14
- Moira K. O’Bryan12
- Tjitske Kleefstra12
- Bregje W.M. van Bon11
- Eric Schoenmakers11
- Hans van Bokhoven11
- Miguel J. Xavier11
- Nicole de Leeuw11
- Petra de Vries11
- Frank Tüttelmann10
- Hans Scheffer10
- Kornelia Neveling10
- Liina Nagirnaja10
- Marloes Steehouwer10
- Nienke Wieskamp10
全論文
- A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene–disease relationships
著者: Brendan J. Houston, Antoni Riera‐Escamilla, Margot J. Wyrwoll, Albert Salas‐Huetos, Miguel J. Xavier, Liina Nagirnaja, Corinna Friedrich, Don F. Conrad, Kenneth I. Aston, Csilla Krausz, Frank Tüttelmann, Moira K. O’Bryan, Joris A. Veltman, Manon S. Oud - Human Reproduction Update 2021 被引用: 265
- Diagnostic Exome Sequencing in Persons With Severe Intellectual Disability
著者: Joep de Ligt, Marjolein H. Willemsen, Bregje W.M. van Bon, Tjitske Kleefstra, Helger G. Yntema, Thessa Kroes, Anneke T. Vulto-van Silfhout, David A. Koolen, Petra de Vries, Christian Gilissen, Marisol del Rosario, Alexander Hoischen, Hans Scheffer, Bert B.A. de Vries, Han G. Brunner, Joris A. Veltman, Lisenka E.L.M. Vissers - New England Journal of Medicine 2012 被引用: 1,578
- De novo mutations in human genetic disease
著者: Joris A. Veltman, Han G. Brunner - Nature Reviews Genetics 2012 被引用: 878
- 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
- Parent-of-origin-specific signatures of de novo mutations
著者: Jakob M. Goldmann, Wendy S.W. Wong, Michele Pinelli, Terry Farrah, Dale L. Bodian, Anna Stittrich, Gustavo Glusman, Lisenka E.L.M. Vissers, Alexander Hoischen, Jared C. Roach, Joseph G. Vockley, Joris A. Veltman, Benjamin D. Solomon, Christian Gilissen, John E. Niederhuber - Nature Genetics 2016 被引用: 373
- A de novo paradigm for male infertility
著者: Manon S. Oud, RM Smits, H E Smith, Francesco Mastrorosa, Giles Holt, Brendan J. Houston, Petra F. de Vries, B. Alobaidi, Lois E. Batty, Hoda Ismail, Joel Greenwood, Harsh Sheth, Aneta Mikulášová, Galuh Astuti, Christian Gilissen, Kevin McEleny, H Turner, Jonathan Coxhead, Simon Cockell, D.D.M. Braat, Kathrin Fleischer, K. W. M. D’Hauwers, Ewout Schaafsma, Donald F. Conrad, Liina Nagirnaja, Kenneth I. Aston, Douglas T. Carrell, James M. Hotaling, Timothy Jenkins, Rob McLachlan, Moira K. O’Bryan, Peter N. Schlegel, Michael L. Eisenberg, Jay Sandlow, Emily S. Jungheim, Kenan Omurtag, Alexandra M. Lopes, Susana Seixas, Filipa Carvalho, Susana Fernandes, Alberto Barros, João Gonçalves, Iris Caetano, Graça Pinto, Sónia Vladimira Correia, Maris Laan, Margus Punab, Ewa Rajpert‐De Meyts, Niels Jørgensen, Kristian Almstrup, Csilla Krausz, Keith Jarvi, Liina Nagirnaja, Donald F. Conrad, Corinna Friedrich, Sabine Kliesch, Kenneth I. Aston, Antoni Riera‐Escamilla, Csilla Krausz, Claudia Gonzaga‐Jauregui, Mauro Santibanez‐Koref, David J. Elliott, Lisenka E.L.M. Vissers, Frank Tüttelmann, Moira K. O’Bryan, Liliana Ramos, Miguel J. Xavier, Godfried W. van der Heijden, Joris A. Veltman - Nature Communications 2022 被引用: 99
- New insights into the generation and role of de novo mutations in health and disease
著者: Rocío Acuña‐Hidalgo, Joris A. Veltman, Alexander Hoischen - Genome biology 2016 被引用: 491
- Genetic studies in intellectual disability and related disorders
著者: Lisenka E.L.M. Vissers, Christian Gilissen, Joris A. Veltman - Nature Reviews Genetics 2015 被引用: 782
- 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
- Diverse monogenic subforms of human spermatogenic failure
著者: Liina Nagirnaja, Alexandra M. Lopes, Wu‐Lin Charng, Brian Miller, Rytis Stakaitis, Ieva Golubickaitė, Alexandra M. Stendahl, Tianpengcheng Luan, Corinna Friedrich, Eisa Mahyari, Eloise Fadial, Laura Kasak, Katinka A. Vigh‐Conrad, Manon S. Oud, Miguel J. Xavier, Samuel R. Cheers, Emma James, Jingtao Guo, Timothy Jenkins, Antoni Riera‐Escamilla, Alberto Barros, Filipa Carvalho, Susana Fernandes, João Gonçalves, Christina A. Gurnett, Niels Jørgensen, Davor Ježek, Emily S. Jungheim, Sabine Kliesch, Robert I. McLachlan, Kenan Omurtag, Adrian Pilatz, Jay Sandlow, James F. Smith, Michael L. Eisenberg, James M. Hotaling, Keith Jarvi, Margus Punab, Ewa Rajpert‐De Meyts, Douglas T. Carrell, Csilla Krausz, Maris Laan, Moira K. O’Bryan, Peter N. Schlegel, Frank Tüttelmann, Joris A. Veltman, Kristian Almstrup, Kenneth I. Aston, Donald F. Conrad - Nature Communications 2022 被引用: 77
- A recent bottleneck of Y chromosome diversity coincides with a global change in culture
著者: Monika Karmin, Lauri Saag, Mário Vicente, Melissa A. Wilson Sayres, Mari Järve, Ulvi Gerst Talas, Siiri Rootsi, Anne-Mai IlumäE, Reedik Mägi, Mario Mitt, Luca Pagani, Tarmo Puurand, Zuzana Faltyskova, Florian Clemente, Alexia Cardona, Ene Metspalu, Hovhannes Sahakyan, Bayazit Yunusbayev, Georgi Hudjashov, Michael DeGiorgio, Eva‐Liis Loogväli, Christina Eichstaedt, Mikk Eelmets, Gyaneshwer Chaubey, Kristiina Tambets, Sergei Litvinov, Maru Mormina, Yali Xue, Qasim Ayub, G. Zoraqi, Thorfinn Sand Korneliussen, Farida Akhatova, Joseph Lachance, Sarah A. Tishkoff, К. Т. Момыналиев, François‐Xavier Ricaut, Pradiptajati Kusuma, Harilanto Razafindrazaka, Denis Pierron, Murray P. Cox, Gazi Nurun Nahar Sultana, Rane Willerslev, Craig Muller, Michael Westaway, David M. Lambert, Vedrana Škaro, Lejla Kovačević, Shahlo Тurdikulova, Dilbar Dalimova, Р. И. Хусаинова, Natalya Trofimova, В. Р. Ахметова, I. M. Khidiyatova, Daria V. Lichman, Jainagul Isakova, Elvira Pocheshkhova, Zhaxylyk Sabitov, Nikolay A. Barashkov, Pagbajabyn Nymadawa, Evelin Mihailov, Joseph Wee Tien Seng, Irina Evseeva, Andrea Bamberg Migliano, Syafiq Abdullah, George Andriadze, Dragan Primorac, Л. А. Атраментова, Olga Utevska, Levon Yepiskoposyan, Damir Marjanović, Alena Kushniarevich, Doron M. Behar, Christian Gilissen, Lisenka E.L.M. Vissers, Joris A. Veltman, Elena Balanovska, М. В. Деренко, B. А. Malyarchuk, Andres Metspalu, С.А. Федорова, Anders Eriksson, Andrea Manica, Fernando L. Méndez, Tatiana M. Karafet, Krishna R. Veeramah, Neil Bradman, Michael F. Hammer, L. P. Osipova, Oleg Balanovsky, Э. К. Хуснутдинова, Knut Johnsen, Maido Remm, Mark Thomas, Chris Tyler‐Smith, Peter A. Underhill, Eske Willerslev, Rasmus Nielsen, Mait Metspalu, Richard Villems, Toomas Kivisild - Genome Research 2015 被引用: 502
- Ultra-sensitive Sequencing Identifies High Prevalence of Clonal Hematopoiesis-Associated Mutations throughout Adult Life
著者: Rocío Acuña‐Hidalgo, Hilal Sengül, Marloes Steehouwer, Maartje van de Vorst, Sita H. Vermeulen, Lambertus A. Kiemeney, Joris A. Veltman, Christian Gilissen, Alexander Hoischen - The American Journal of Human Genetics 2017 被引用: 270
- Variant PNLDC1 , Defective piRNA Processing, and Azoospermia
著者: Liina Nagirnaja, Nina Mørup, John Nielsen, Rytis Stakaitis, Ieva Golubickaitė, Manon S. Oud, Sofia Boeg Winge, Filipa Carvalho, Kenneth I. Aston, Francesca Khani, Godfried W. van der Heijden, C. Joana Marques, Niels E. Skakkebæk, Ewa Rajpert‐De Meyts, Peter N. Schlegel, Niklas Rye Jørgensen, Joris A. Veltman, Alexandra M. Lopes, Donald F. Conrad, Kristian Almstrup - New England Journal of Medicine 2021 被引用: 99
- 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
- Disruption of an EHMT1-Associated Chromatin-Modification Module Causes Intellectual Disability
著者: Tjitske Kleefstra, Jamie M. Kramer, Kornelia Neveling, Marjolein H. Willemsen, Tom S. Koemans, Lisenka E.L.M. Vissers, W.M. Wissink-Lindhout, Michaela Fencková, Willem M.R. van den Akker, Nael Nadif Kasri, Willy M. Nillesen, Trine Prescott, Robin D. Clark, Koenraad Devriendt, Jeroen van Reeuwijk, Arjan P.M. de Brouwer, Christian Gilissen, Huiqing Zhou, Han G. Brunner, Joris A. Veltman, Annette Schenck, Hans van Bokhoven - The American Journal of Human Genetics 2012 被引用: 271
- A de novo paradigm for mental retardation
著者: Lisenka E.L.M. Vissers, Joep de Ligt, Christian Gilissen, Irene M. Janssen, Marloes Steehouwer, Petra de Vries, Bart van Lier, Peer Arts, Nienke Wieskamp, Marisol del Rosario, Bregje W.M. van Bon, Alexander Hoischen, Bert B.A. de Vries, Han G. Brunner, Joris A. Veltman - Nature Genetics 2010 被引用: 854
- Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease
著者: Cyril Pottier, Kevin F. Bieniek, Ni Cole A. Finch, Maartje van de Vorst, Matthew B. Baker, Ralph Perkersen, Patricia E. Brown, Thomas A. Ravenscroft, Marka van Blitterswijk, Alexandra M. Nicholson, Michael DeTure, David S. Knopman, Keith A. Josephs, Joseph E. Parisi, Ronald C. Petersen, Khrista Boylan, Bradley F. Boeve, Neill R. Graff‐Radford, Joris A. Veltman, Christian Gilissen, Melissa E. Murray, Dennis W. Dickson, Rosa Rademakers - Acta Neuropathologica 2015 被引用: 314
- Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein‐Coding Regions
著者: Stefan H. Lelieveld, Malte Spielmann, Stefan Mundlos, Joris A. Veltman, Christian Gilissen - Human Mutation 2015 被引用: 231
- Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility
著者: Chunyu Liu, Chaofeng Tu, Lingbo Wang, Huan Wu, Brendan J. Houston, Francesco Mastrorosa, Wen Zhang, Ying Shen, Jiaxiong Wang, Shixiong Tian, Lanlan Meng, Jiangshan Cong, Shenmin Yang, Yiwen Jiang, Shuyan Tang, Yuyan Zeng, Mingrong Lv, Ge Lin, Jinsong Li, Hexige Saiyin, Xiaojin He, Jin Li, Aminata Touré, Pierre F. Ray, Joris A. Veltman, Qinghua Shi, Moira K. O’Bryan, Yunxia Cao, Yue‐Qiu Tan, Feng Zhang - The American Journal of Human Genetics 2021 被引用: 143
- Physiological indices of workload in a simulated flight task
著者: Joris A. Veltman, A.W.K. Gaillard - Biological Psychology 1996 被引用: 330
- De Novo Mutations Reflect Development and Aging of the Human Germline
著者: Jakob M. Goldmann, Joris A. Veltman, Christian Gilissen - Trends in Genetics 2019 被引用: 134
- STAT1 Mutations in Autosomal Dominant Chronic Mucocutaneous Candidiasis
著者: Frank L. van de Veerdonk, Theo S. Plantinga, Alexander Hoischen, Sanne P. Smeekens, Leo A. B. Joosten, Christian Gilissen, Peer Arts, Diana C. Rosentul, Andrew Carmichael, Chantal A.A. Smits-van der Graaf, Bart Jan Kullberg, J.W.M. van der Meer, Desa Lilić, Joris A. Veltman, Mihai G. Netea - New England Journal of Medicine 2011 被引用: 656
- Frequency, morbidity and equity — the case for increased research on male fertility
著者: Sarah Kimmins, Richard A. Anderson, Christopher L. R. Barratt, Hermann M. Behre, Sarah R. Catford, Christopher J. De Jonge, Géraldine Delbès, Michael L. Eisenberg, Nicolás Garrido, Brendan J. Houston, Niels Jørgensen, Csilla Krausz, Ariane Lismer, Robert I. McLachlan, Suks Minhas, Timothy J. M. Moss, Allan Pacey, Lærke Priskorn, Stefan Schlatt, Jacquetta M. Trasler, Leonardo Trasande, Frank Tüttelmann, Mónica H. Vazquez‐Levin, Joris A. Veltman, Feng Zhang, Moira K. O’Bryan - Nature Reviews Urology 2023 被引用: 61
