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Papers共 53 篇Author StatisticsCo-AuthorSimilar Experts

By YearBy Citation主题筛选期刊级别筛选合作者筛选合作机构筛选
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Analysis of BRCA1, BRCA2 and PALB2 Related Fanconi Anemia Identifies Scope to Expand Disease Phenotypic Features and Predict Breast Cancer Risk in Heterozygotes
Sharon E. Johnatty,Emma Tudini, Michael T. Parsons,Kyriaki Michailidou,Maria Zanti, Daffodil Canson, Aimee L. Davidson, Tamar Berger,Rasim Ozgur Rosti, Christian P. Kratz,Reinhard Kalb, Lisa J. McReynolds,Neelam Giri,Marcy Richardson,Tina Pesaran,Jordi Surralles, Roser Pujol,Babu Rao Vundinti, Merin George, Kara Maxwell,Kate Nathanson,Susan Domchek,Moises O. Fiesco-Roa,Sara Frias,Benilde Garcia-de-Teresa,Marjolijn Jongmans, Seema Lalani, Merel Maiburg, Katrina Prescott,Rachel Robinson, Sulekha Rajagopalan, Lot Snijders Blok, Suzanna E.L. Temple,Kathy Tucker, Arleen D. Auerbach, Maria I. Cancio, Jennifer A. Kennedy,Margaret L. MacMillan, Rebecca Tryon, John E. Wagner,Michael Walsh, Nicholas J. Boddicker,Chunling Hu, Jeffrey N. Weitzel,Alexander J.M. Dingemans,Johanna Hadler, Nitsan Rotenberg, Lobna Ramadane-Morchadi,Miguel de la Hoya,Paul James,Thomas Van Overeem Hansen, Maaike P.G. Vreeswijk,Logan C. Walker,Shyam K. Sharan, Douglas F. Easton, Fergus Couch,Agata Smogorzewska, Adam Nelson, Joanne Ngeow,Marc Tischkowitz, Encarnacion Gomez-Garcia, Amanda B. Spurdle, ENIGMA consortium, BCAC consortium, CARRIERS consortium
medrxiv（2025）
Cited0Views0Bibtex
0
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GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders
Lauren Rekerle,Daniel Danis, Filip Rehburg, Adam Sl Graefe, Viktor Bily,Andrés Caballero-Oteyza,Pilar Cacheiro, Leonardo Chimirri,Jessica X Chong, Evan Connelly, Bert Ba de Vries,Alexander Jm Dingemans,Michael H Duyzend,Tomas Freiberger, Petra Gehle,Tudor Groza, Peter Hansen,Julius O B Jacobsen,Adam Klocperk,Markus S Ladewig,Michael I Love, Allison J Marcello,Alexander Mordhorst,Monica C Munoz-Torres, Justin Reese, Catharina Schütz,Damian Smedley,Timmy Strauss, Ondrej Vladyka,David Zocche,Sylvia Thun,Christopher J Mungall,Melissa A Haendel,Peter N Robinson
medRxiv the preprint server for health sciences (2025)
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Pathogenic Variants in KMT2C Result in a Neurodevelopmental Disorder Distinct from Kleefstra and Kabuki Syndromes
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
Cited1Views0WOSBibtex
1
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Comprehensive EHMT1 Variants Analysis Broadens Genotype-Phenotype Associations and Molecular Mechanisms in Kleefstra Syndrome
Dmitrijs Rots,Arianne Bouman,Ayumi Yamada,Michael Levy,Alexander J. M. Dingemans,Bert B. A. de Vries,Martina Ruiterkamp-Versteeg,Nicole de Leeuw,Charlotte W. Ockeloen,Rolph Pfundt,Elke de Boer,Joost Kummeling,Bregje van Bon,Hans van Bokhoven,Nael Nadif Kasri,Hanka Venselaar,Marielle Alders,Jennifer Kerkhof,Haley McConkey,Alma Kuechler, Bart Elffers, Rixje van Beeck Calkoen, Susanna Hofman,Audrey Smith, Maria Irene Valenzuela,Siddharth Srivastava,Zoe Frazier,Isabelle Maystadt,Carmelo Piscopo,Giuseppe Merla,Meena Balasubramanian,Gijs W. E. Santen,Kay Metcalfe,Soo-Mi Park, Laurent Pasquier,Siddharth Banka,Dian Donnai,Daniel Weisberg,Gertrud Strobl-Wildemann,Annemieke Wagemans,Maaike Vreeburg, Diana Baralle,Nicola Foulds,Ingrid Scurr,Nicola Brunetti-Pierri,Johanna M. van Hagen,Emilia K. Bijlsma,Anna H. Hakonen,Carolina Courage,David Genevieve,Lucile Pinson, Francesca Forzano,Charu Deshpande, Maria L. Kluskens, Lindsey Welling,Astrid S. Plomp,Els K. Vanhoutte,Louisa Kalsner,Janna A. Hol,Audrey Putoux, Johanna Lazier,Pradeep Vasudevan,Elizabeth Ames, Jessica O'Shea,Damien Lederer,Julie Fleischer, Mary O'Connor, Melissa Pauly,Georgia Vasileiou,Andre Reis,Catherine Kiraly-Borri,Arjan Bouman, Chris Barnett,Marjan Nezarati, Lauren Borch,Gea Beunders, Kubra Ozcan, Stephanie Miot,Catharina M. L. Volker-Touw,Koen L. I. van Gassen,Gerarda Cappuccio,Katrien Janssens,Nofar Mor, Inna Shomer,Dan Dominissini,Matthew L. Tedder,Alison M. Muir,Bekim Sadikovic, Han G. Brunner,Lisenka E. L. M. Vissers, Yoichi Shinkai,Tjitske Kleefstra
AMERICAN JOURNAL OF HUMAN GENETICSno. 8 (2024): 1605-1625
Cited3Views0WOSBibtex
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Author Statistics

#Papers: 54

#Citation: 658

H-Index: 14

G-Index: 25

Sociability: 7

Diversity: 2

Activity: 41

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