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Bio
Rolph Pfundt frequently studies issues relating to Proband and Genetics. In his articles, he combines various disciplines, including Proband and Phenotype. He performs multidisciplinary studies into Phenotype and Haploinsufficiency in his work. He merges Haploinsufficiency with Mutation in his research. Rolph Pfundt conducts interdisciplinary study in the fields of Mutation and Hypotonia through his works. His Hypotonia study frequently links to related topics such as Genetics. He conducts interdisciplinary study in the fields of Gene and Intellectual disability through his works. Rolph Pfundt carries out multidisciplinary research, doing studies in Intellectual disability and Gene. His multidisciplinary approach integrates Copy-number variation and Gene duplication in his work.
Research Interests
Papers共 400 篇Author StatisticsCo-AuthorSimilar Experts
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Lachlan De Hayr,Laura E. R. Blok,Kerith-Rae Dias,Jingyi Long,Anais Begemann,Robyn D. Moir,Ian M. Willis, Martina Mocera,Gabriele Siegel,Katharina Steindl,Carey-Anne Evans,Ying Zhu, Futao Zhang,Michael Field,Alan Ma,Lesley Ades,Sarah Josephi-Taylor,Rolph Pfundt,Maha S. Zaki,Hoda Tomoum,Anne Gregor, Julia Laube,Andre Reis,Sateesh Maddirevula,Mais O. Hashem,Markus Zweier,Fowzan S. Alkuraya,Reza Maroofian,Michael F. Buckley,Joseph G. Gleeson,Christiane Zweier,Mireia Coll-Tane,David A. Koolen,Anita Rauch,Tony Roscioli,Annette Schenck,Robert J. Harvey
GENETICS IN MEDICINEno. 1 (2025)
Steven Laurie,Wouter Steyaert,Elke de Boer,Kiran Polavarapu,Nika Schuermans,Anna K. Sommer,German Demidov,Kornelia Ellwanger,Ida Paramonov,Coline Thomas,Stefan Aretz,Jonathan Baets,Elisa Benetti,Gemma Bullich,Patrick F. Chinnery,Jill Clayton-Smith,Enzo Cohen,Daniel Danis,Jean-Madeleine de Sainte Agathe,Anne-Sophie Denommé-Pichon,Jordi Diaz-Manera,Stephanie Efthymiou,Laurence Faivre,Marcos Fernandez-Callejo, Mallory Freeberg,José Garcia-Pelaez,Lena Guillot-Noel,Tobias B. Haack, Mike Hanna,Holger Hengel,Rita Horvath,Henry Houlden,Adam Jackson,Lennart Johansson,Mridul Johari,Erik-Jan Kamsteeg,Melanie Kellner,Tjitske Kleefstra,Didier Lacombe,Hanns Lochmüller,Estrella López-Martín,Alfons Macaya,Anna Marcé-Grau,Aleš Maver,Heba Morsy,Francesco Muntoni,Francesco Musacchia,Isabelle Nelson,Vincenzo Nigro,Catarina Olimpio,Carla Oliveira,Jaroslava Paulasová Schwabová,Martje G. Pauly,Borut Peterlin,Sophia Peters,Rolph Pfundt,Giulio Piluso,Davide Piscia,Manuel Posada,Selina Reich,Alessandra Renieri,Lukas Ryba,Karolis Šablauskas,Marco Savarese,Ludger Schöls,Leon Schütz,Verena Steinke-Lange,Giovanni Stevanin,Volker Straub,Marc Sturm,Morris A. Swertz,Marco Tartaglia,Iris B. A. W. te Paske,Rachel Thompson,Annalaura Torella,Christina Trainor,Bjarne Udd,Liedewei Van de Vondel,Bart van de Warrenburg,Jeroen van Reeuwijk,Jana Vandrovcova,Antonio Vitobello,Janet Vos,Emílie Vyhnálková,Robin Wijngaard,Carlo Wilke,Doreen William,Jishu Xu,Burcu Yaldiz, Luca Zalatnai,Birte Zurek,Anthony J. Brookes,Teresinha Evangelista,Christian Gilissen,Holm Graessner,Nicoline Hoogerbrugge,Stephan Ossowski,Olaf Riess,Rebecca Schüle,Matthis Synofzik,Alain Verloes,Leslie Matalonga,Han G. Brunner,Katja Lohmann,Richarda M. de Voer,Ana Töpf,Lisenka E.L.M. Vissers,Sergi Beltran,Alexander Hoischen
Nature Medicinepp.1-12, (2025)
Liselot van der Laan, Ananilia Silva,Lotte Kleinendorst,Kathleen Rooney,Sadegheh Haghshenas,Peter Lauffer,Yasemin Alanay,Pratibha Bhai,Alfredo Brusco,Sonja de Munnik,Bert B. A. de Vries, Angelica Delgado Vega,Marc Engelen,Johanna C. Herkert,Ron Hochstenbach,Saskia Hopman,Sarina G. Kant,Ryutaro Kira,Mitsuhiro Kato,Boris Keren,Hester Y. Kroes,Michael A. Levy,Ngu Lock-Hock,Saskia M. Maas,Grazia M. S. Mancini,Carlo Marcelis,Naomichi Matsumoto,Takeshi Mizuguchi,Alessandro Mussa,Cyril Mignot, Anu Narhi,Ann Nordgren,Rolph Pfundt,Abeltje M. Polstra,Slavica Trajkova,Yolande van Bever, Marie Jose van den Boogaard,Jasper J. van der Smagt,Tahsin Stefan Barakat,Marielle Alders,Marcel M. A. M. Mannens,Bekim Sadikovic,Mieke M. van Haelst,Peter Henneman
HUMAN GENETICS AND GENOMICS ADVANCESno. 1 (2025)
INTERNATIONAL MEDICAL CASE REPORTS JOURNAL (2025): 111-116
Milou G P Kennis,Dmitrijs Rots,Arjan Bouman,Charlotte W Ockeloen, Caroline Boelen, Carlo L M Marcelis,Bert B A de Vries,Mariet W Elting,Quinten Waisfisz,Mohnish Suri, Esperanza Font-Montgomery, Dawn S Peck, Deirdre E Donnelly,R Curtis Rogers, Ruth Richardson,Roseline Caumes,Boris Chaumette, Cécile Louveau,Suzanne C E H Sallevelt,Saskia M Maas, Jeroen J Smits, Mieke M van Haelst, Rebecca J Levy,Helen Stewart, Bart L Loeys,Rolph Pfundt,Tjitske Kleefstra, Lot Snijders Blok
Kimberley Jade Anderson, Eirny Tholl Thorolfsdottir, Ilana M Nodelman, Sara Tholl Halldorsdottir, Stefania Benonisdottir, Malak Alghamdi, Naif Almontashiri,Brenda J Barry,Matthias Begemann, Jacquelyn F Britton, Sarah Burke, Benjamin Cogne,Ana S A Cohen, Carles de Diego Boguñá, Evan E Eichler,Elizabeth C Engle,Jill A Fahrner,Laurence Faivre, Mélanie Fradin, Nico Fuhrmann, Christine W Gao, Gunjan Garg, Dagmar Grečmalová, Mina Grippa, Jacqueline R Harris,Kendra Hoekzema, Tova Hershkovitz, Sydney Hubbard, Katrien Janssens, Julie A Jurgens, Stanislav Kmoch,Cordula Knopp, Meral Aktas Koptagel, Farah A Ladha,Pablo Lapunzina, Tobias Lindau,Marije Meuwissen, Andreina Minicucci,Emily Neuhaus,Mathilde Nizon, Lenka Nosková,Kristen Park,Chirag Patel,Rolph Pfundt, Pankaj Prasun, Nils Rahner, Nathaniel H Robin, Carey Ronspies, Jasmin Roohi, Jill Rosenfeld,Margarita Saenz,Carol Saunders,Zornitza Stark,Isabelle Thiffault, Sarah Thull,Danita Velasco, Clara Velmans, Jolijn Verseput,Antonio Vitobello,Tianyun Wang, Karin Weiss,Ingrid M Wentzensen, Genay Pilarowski, Thor Eysteinsson, Madelyn Gillentine,Kári Stefánsson, Agnar Helgason, Gregory D Bowman, Hans Tomas Bjornsson
Priyanka Sandal,Chian Ju Jong,Ronald A. Merrill, Grace J. Kollman, Austin H. Paden, Eric G. Bend,Jennifer Sullivan,Rebecca C. Spillmann,Vandana Shashi,Anneke T. Vulto-van Silfhout,Rolph Pfundt,Bert B. A. de Vries, Pan P. Li,Louise S. Bicknell,Stefan Strack
Human molecular geneticsno. 2 (2025): 193-203
Daniel Greene, Koenraad De Wispelaere, Jon Lees, Marta Codina-Solà,Brynjar O Jensson, Emma Hales, Andrea Katrinecz, Esther Nieto Molina, Sonia Pascoal,Rolph Pfundt,Rachel Schot, Marta Sevilla Porras,Frank Sleutels,Irene Valenzuela,Robin Wijngaard, Ignacio Arroyo Carrera, Giles Atton, Didac Casas-Alba,Deirdre Donnelly, Anna Duat Rodríguez,Bárbara Fernández Garoz,Nicola Foulds, Deyanira García-Navas Núñez, Elena González Alguacil, Joanna Jarvis,Sarina G Kant, Irene Madrigal Bajo, Antonio F Martinez-Monseny,Shane McKee, Nelmar Valentina Ortiz Cabrera, Laia Rodríguez-Revenga Bodi, Andrea Sariego Jamardo,Kari Stefansson,Patrick Sulem,Mohnish Suri, Clara Van Karnebeek,Pradeep Vasudevan, Ana Isabel Vega Pajares, Ángel Carracedo,Marc Engelen,Pablo Lapunzina, Natasha P Morgan,Beatriz Morte,Patrick Rump, Kathy Stirrups,Eduardo F Tizzano,Tahsin Stefan Barakat, Michael O'Donoghue,Luis Alberto Pérez-Jurado,Kathleen Freson,Andrew D Mumford,Ernest Turro
Nature geneticsno. 6 (2025): 1367-1373
Dmitrijs Rots,Sanaa Choufani,Victor Faundes,Alexander J. M. Dingemans,Shelagh Joss,Nicola Foulds,Elizabeth A. Jones, Sarah Stewart,Pradeep Vasudevan,Tabib Dabir,Soo-Mi Park,Rosalyn Jewell,Natasha Brown,Lynn Pais,Sebastien Jacquemont,Khadije Jizi,Conny M. A. van Ravenswaaij-Arts,Hester Y. Kroes,Constance T. R. M. Stumpel,Charlotte W. Ockeloen,Illja J. Diets,Mathilde Nizon,Marie Vincent,Benjamin Cogne,Thomas Besnard, Marios Kambouris,Emily Anderson,Elaine H. Zackai,Carey McDougall,Sarah Donoghue,Anne O'Donnell-Luria,Zaheer Valivullah,Melanie O'Leary,Siddharth Srivastava,Heather Byers,Nancy Leslie,Sarah Mazzola,George E. Tiller, Moin Vera,Joseph J. Shen, Richard Boles,Vani Jain,Elise Brischoux-Boucher,Esther Kinning,Brittany N. Simpson,Jacques C. Giltay,Jacqueline Harris,Boris Keren,Anne Guimier, Pierre Marijon,Bert B. A. de Vries,Constance S. Motter,Bryce A. Mendelsohn, Samantha Coffino,Erica H. Gerkes,Alexandra Afenjar,Paola Visconti,Elena Bacchelli,Elena Maestrini,Andree Delahaye-Duriez,Catherine Gooch,Yvonne Hendriks, Hieab Adams,Christel Thauvin-Robinet,Sarah Josephi-Taylor,Marta Bertoli,Michael J. Parker,Julie W. Rutten,Oana Caluseriu,Hilary J. Vernon, Jonah Kaziyev,Jia Zhu,Jessica Kremen,Zoe Frazier, Hailey Osika,David Breault,Sreelata Nair, Suzanne M. E. Lewis,Fabiola Ceroni,Marta Viggiano,Annio Posar,Helen Brittain,Traficante Giovanna,Gori Giulia,Lina Quteineh, Russia Ha-Vinh Leuchter,Evelien Zonneveld-Huijssoon,Cecilia Mellado,Isabelle Marey, Alicia Coudert, Mariana Ines Aracena Alvarez, Milou G. P. Kennis,Arianne Bouman,Maian Roifman, Maria Inmaculada Amoros Rodriguez,Juan Dario Ortigoza-Escobar,Vivian Vernimmen,Margje Sinnema,Rolph Pfundt,Han G. Brunner,Lisenka E. L. M. Vissers,Tjitske Kleefstra,Rosanna Weksberg,Siddharth Banka
AMERICAN JOURNAL OF HUMAN GENETICSno. 8 (2024): 1626-1642
Katalin Szakszon,Charles Marques Lourenco,Bert Louis Callewaert,David Genevieve,Flavien Rouxel,Denis Morin,Anne-Sophie Denomme-Pichon,Antonio Vitobello,Wesley Patterson,Raymond Louie,Filippo Vairo,Eric Klee,Charu Kaiwar,Ralitza H. Gavrilova,Katherine E. Agre,Sebastien Jacquemont,Jizi Khadije,Jacques Giltay,Koen van Gassen,Gabriella Mero,Erica Gerkes,Bregje W. Van Bon,Tuula Rinne,Rolph Pfundt,Han G. Brunner,Oana Caluseriu,Ute Grasshoff,Martin Kehrer,Tobias B. Haack, Melik Malek Khelifa,Anke Katharina Bergmann,Anna Maria Cueto-Gonzalez,Ariadna Campos Martorell, Shwetha Ramachandrappa,Lindsey B. Sawyer,Pascale Fasel,Dominique Braun,Atallah Isis,Andrea Superti-Furga,Vanda McNiven,David Chitayat, Syed Anas Ahmed,Heiko Brennenstuhl,Eva M. C. Schwaibolf, Gladys Battisti,Benoit Parmentier,Servi J. C. Stevens
JOURNAL OF MEDICAL GENETICSno. 2 (2024): 132-141
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Author Statistics
#Papers: 400
#Citation: 16923
H-Index: 68
G-Index: 118
Sociability: 9
Diversity: 3
Activity: 79
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