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D

David Geneviève

University of Montpellier

51H-index
621Paper Count
9.3KCitation Count
Published Papers 115
Publication Date
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Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization
errEuropean Journal of Human Genetics
IF4.6
err2026-04-02
err0
PREAI
errCamille Engel; Michaela Rendek; Jessica Assoumani; Emanuela Argilli; Francesca Ariani; Anne-Laude Avice-Denizet; Emilia K. Bijlsma; Pierre Blanc; Lucia Pia Bruno; Bert Callewaert; Valeria Capra; Michele Carullo; Bertrand Chesneau; Sandra Coppens; Cynthia Curry; Breanne Dale; Eric Dahlen; Andrée Delahaye-Duriez; Anne-Sophie Denommé-Pichon; Bénédicte Demeer; Lenka Dvořáková; Jan Fischer; David Geneviève; Thea Giacomini; Mette M. Handrup; Delphine Heron; Irina Hüning; Michelle Iacomino; Bertrand Isidor; Boris Keren; Stanislav Kmoch; David A. Koolen; Andrea Kübler; Jana Laštůvková; Carolyn Le; Jonathan Levy; Caterina Lo Rizzo; Silvia Maitz; Sandrine Marlin; Cyril Mignot; Ghayda Mirzaa; Inga Nagel; Sebastian Neuens; Lenka Nosková; Emily Pao; Anna Pecková; Julie Plaisancie; Joseph Porrmann; Flavia Privitera; André Reis; Alessandra Renieri; Marlène Rio; Alyssa Rippert; Lukáš Ryba; Marcello Scala; Jolanda H. Schieving; Elliott H. Sherr; Andrew Shuen; Richard Sidlow; Thomas Smol; Julie Soblet; Pasquale Striano; Mohnish Suri; Hannes Syryn; Frédéric Tran Mau-Them; Andre M. Travessa; Julien Van Gils; Georgia Vasileiou; Jolijn J. A. Verseput; Catheline Vilain; Catherine Vincent-Delorme; Emílie Vyhnálková; Emma L. Wakeling; Pia Zacher; Federico Zara; Paul Kuentz; Juliette Piard
errShare
errSave
DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals
errEuropean Journal of Human Genetics
IF4.6
err2026-03-25
err0
PREAI
errQuentin Sabbagh; Camille Cenni; Sadegheh Haghshenas; Jean-Luc Alessandri; Mads Bak; Allan Bayat; Mouna Barat-Houari; Alfredo Brusco; Tiffany Busa; Anaïs Calaya; Paige Calvert; Valérie Cormier-Daire; Christine Coubes; Yannis Duffourd; Giovanni B. Ferrero; Anne Guimier; Damien Haye; Tina Duelund Hjortshøj; Laetitia Lambert; Karen Bonde Larsen; Carolyn Lauzon-Young; Gaetan Lesca; Nicolas Chatron; Michael A. Levy; Diego Lopergolo; Henri Margot; Haley McConkey; Pauline Monin; Godelieve Morel; Sophie Naudion; Mathilde Nizon; Sylvie Odent; Lucile Pinson; Linda Pons; Audrey Putoux; Marlène Rio; Massimiliano Rossi; Lucie Rouaux; Flavien Rouxel; Nathalie Ruiz-Pallares; Elodie Sanchez; Stefano Pagano; Filippo M. Santorelli; Clément Sauvestre; Jennifer C. Schymick; Victoria Mok Siu; Marta Spodenkiewicz; Matthew Tedder; Mylène Tharreau; Frédéric Tran Mau-Them; Zeynep Tümer; Irene Valenzuela; Julien Van Gils; Marjolaine Willems; Aron Kirchhoff; Peter Krawitz; Jennifer Kerkhof; Janneke H. M. Schuurs-Hoeijmakers; Bekim Sadikovic; David Geneviève
errShare
errSave
Genetic Heterogeneity Underlying Familial Short Stature
errDiagnostics 2025, Vol. 15, Page 3127
IF3.3
err2025-12-09
err0
errOAAI
errMargot Comel; Mouna Barat-Houari; Fanny Alkar; Cyril Amouroux; Olivier Prodhomme; Nathalie Ruiz; Sophie Rondeau; Constance F. Wells; Yves-Marie Pers; David Geneviève; Marjolaine Willems
errShare
errSave
ClinFly: an all-in-one method to translate, de-identify, and summarize medical reports in HPO format
errNAR GENOMICS AND BIOINFORMATICS
IF2.8
err2025-12-01
err0
PREAI
errGauthier, Lucas W.; Willems, Marjolaine; Chatron, Nicolas; Cenni, Camille; Meyer, Pierre; Ruault, Valentin; Wells, Constance; Gernet, Enody; Dunoyer, Caroline; Sabbagh, Quentin; Bardel, Claire; Genevieve, David; Yauy, Kevin
errShare
errSave
Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies
errNature Communications
IF15.7
err2025-11-26
err0
errOAAI
errSébastien Küry; Janelle E. Stanton; Geeske M. van Woerden; Amélie Bosc-Rosati; Tzung-Chien Hsieh; Lise Bray; Marielle Oloudé; Cory Rosenfelt; Marie Pier Scott-Boyer; Victoria Most; Tianyun Wang; Jonas J. Papendorf; Charlotte de Konink; Wallid Deb; Virginie Vignard; Maja Studencka-Turski; Thomas Besnard; Anna M. Hajdukowicz; Franziska G. Thiel; Sophie Wolfgramm; Laëtitia Florenceau; Silvestre Cuinat; Sylvain Marsac; Yann Verrès; Audrey Dangoumau; Léa Poirier; Ingrid M. Wentzensen; Annabelle Tuttle; Cara Forster; Johanna Striesow; Richard Golnik; Damara Ortiz; Laura Jenkins; Jill A. Rosenfeld; Alban Ziegler; Clara Houdayer; Dominique Bonneau; Erin Torti; Amber Begtrup; Kristin G. Monaghan; Sureni V. Mullegama; Catharina M. L. Nienke Volker-Touw; Koen L. I. van Gassen; Renske Oegema; Mirjam S. de Pagter; Katharina Steindl; Anita Rauch; Ivan Ivanovski; Kimberly McDonald; Emily Boothe; Andrew Dauber; Janice Baker; Noelle Andrea V. Fabie; Raphael A. Bernier; Tychele N. Turner; Siddharth Srivastava; Kira A. Dies; Lindsay C. Swanson; Carrie Costin; Alali Abdulrazak; Rebekah K. Jobling; John Pappas; Rachel Rabin; Dmitriy Niyazov; Anne Chun-Hui Tsai; Karen Kovak; David B. Beck; May Christine V. Malicdan; David R. Adams; Lynne Wolfe; Rebecca D. Ganetzky; Colleen C. Muraresku; Davit Babikyan; Zdeněk Sedláček; Miroslava Hančárová; Andrew T. Timberlake; Hind Al Saif; Berkley Nestler; Kayla King; MJ Hajianpour; Gregory Costain; D’Arcy Prendergast; Chumei Li; David Geneviève; Antonio Vitobello; Arthur Sorlin; Christophe Philippe; Tamar Harel; Ori Toker; Ataf Sabir; Derek Lim; Mark J. Hamilton; Lisa J. Bryson; Elaine Cleary; Sacha Weber; Trevor L. Hoffman; Anna M. Cueto-González; Eduardo F. Tizzano; David Gómez-Andrés; Marta Codina-Solà; Athina Ververi; Efterpi Pavlidou; Alexandros Lambropoulos; Kyriakos Garganis; Marlène Rio; Jonathan Levy; Sarah J. Langas; Anne M. McRae; Mathieu K. Lessard; Maria Daniela D’Agostino; Isabelle De Bie; Meret Wegler; Rami Abou Jamra; Susanne B. Kamphausen; Viktoria Bothe; Lorraine Potocki; Eric Olinger; Yves Sznajer; Elsa Wiame; Michelle L. Thompson; Molly C. Schroeder; Catherine Gooch; Raphael A. Smith; Arti Pandya; Larissa M. Busch; Uwe Völker; Elke Hammer; Kristian Wende; Benjamin Cogné; Bertrand Isidor; Jens Meiler; Clémentine Ripoll; Stéphanie Bigou; Frédéric Laumonnier; Peter W. Hildebrand; Evan E. Eichler; Kirsty McWalter; Peter M. Krawitz; Florence Roux-Dalvai; Ype Elgersma; Julien Marcoux; Marie-Pierre Bousquet; Arnaud Droit; Jeremie Poschmann; Andreas M. Grabrucker; Francois V. Bolduc; Stéphane Bézieau; Frédéric Ebstein; Elke Krüger
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Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study
errGenome Medicine
IF11.2
err2025-10-04
err0
errOAAI
errSalima El Chehadeh; Solveig Heide; Chloé Quélin; Marlène Rio; Henri Margot; David Geneviève; Bertrand Isidor; Alice Goldenberg; Caroline Guégan; Gaëtan Lesca; Marjolaine Willems; Clothilde Ormières; Roseline Caumes; Tiffany Busa; Dominique Bonneau; Anne-Marie Guerrot; Isabelle Marey; Gabriella Vera; Pauline Marzin; Anaïs Philippe; Aurore Garde; Christine Coubes; Marie Vincent; Vincent Michaud; Cyril Mignot; Perrine Charles; Sabine Sigaudy; Patrick Edery; Didier Lacombe; Anne Boland; Frédérique Nowak; Marion Bouctot; Marie-Laure Humbert-Asensio; Alban Simon; Kirsley Chennen; Niki Sabour; Christelle Delmas; Gaël Nicolas; Pascale Saugier-Veber; François Lecoquierre; Kévin Cassinari; Boris Keren; Thomas Courtin; Jean-Madeleine De Sainte Agathe; Valérie Malan; Giulia Barcia; Frédéric Tran Mau-Them; Hana Safraou; Christophe Philippe; Julien Thévenon; Nicolas Chatron; Louis Januel; Amélie Piton; Virginie Haushalter; Bénédicte Gérard; Catherine Lejeune; Laurence Faivre; Damien Sanlaville; Delphine Héron; Sylvie Odent; Patrick Nitschké; Caroline Schluth-Bolard; Stanislas Lyonnet; Jean-François Deleuze; Christine Binquet; Hélène Dollfus
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errSave
Expanding the molecular spectrum of aggrecanopathies: exploring 24 patients with ACAN significant variants
errEuropean Journal of Human Genetics
IF4.6
err2025-09-23
err0
PREAI
errMelek Trigui; Nathalie Pallares-Ruiz; David Geneviève; Cyril Amouroux; Thomas Edouard; Sabine Sigaudy; Marjolaine Willems; Mouna Barat-Houari
errShare
errSave
DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2025-09-01
err0
PREAI
errvan der Laan, Liselot; Karimi, Karim; Rooney, Kathleen; Alders, Marielle; Brusco, Alfredo; Lasa-Aranzasti, Amaia; Brunetti-Pierri, Nicola; Cueto-Gonzalez, Anna M.; DuPont, Barbara R.; Cappuccio, Gerarda; Dubourg, Christele; Everman, David; Gatinois, Vincent; Ganne, Benjamin; Genevieve, David; Ferrero, Giovanni Battista; Kempers, Marlies; Levy, Michael A.; Niceta, Marcello; Novelli, Antonio; Orlando, Valeria; Odent, Sylvie; Patterson, Wesley G.; Polstra, Abeltje M.; Roscioli, Tony; Ruiz-Pallares, Nathalie; Sabbagh, Quentin; Trajkova, Slavica; Tartaglia, Marco; Tedder, Matthew A.; Toutain, Annick; Koehler, Udo; Valenzuela, Irena; van Hagen, Johanna M.; van der Kevie-kersemaekers, Anne-Marie; Henneman, Peter; Mannens, Marcel M. A. M.; Sadikovic, Bekim; van Haelst, Mieke M.
errShare
errSave
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization
errEuropean Journal of Human Genetics
IF4.6
err2025-06-25
err0
PREAI
errCamille Engel; Michaela Rendek; Jessica Assoumani; Emanuela Argilli; Francesca Ariani; Anne-Laude Avice-Denizet; Emilia K. Bijlsmaa; Pierre Blanc; Lucia Pia Bruno; Bert Callewaert; Valeria Capra; Michele Carullo; Bertrand Chesneau; Sandra Coppens; Cynthia Curry; Breanne Dale; Eric Dahlen; Andrée Delahaye-Duriez; Anne-Sophie Denommé-Pichon; Bénédicte Demeer; Lenka Dvořáková; Jan Fischer; David Geneviève; Thea Giacomini; Mette M. Handrup; Delphine Heron; Irina Hüning; Michelle Iacomino; Bertrand Isidor; Boris Keren; Stanislav Kmoch; David A. Koolen; Andrea Kübler; Jana Laštůvková; Carolyn Le; Jonathan Levy; Caterina Lo Rizzo; Silvia Maitz; Sandrine Marlin; Cyril Mignot; Ghayda Mirzaa; Inga Nagel; Sebastian Neuens; Lenka Nosková; Emily Pao; Anna Pecková; Julie Plaisancie; Joseph Porrmann; Flavia Privitera; André Reis; Alessandra Renieri; Marlène Rio; Alyssa Rippert; Lukáš Ryba; Marcello Scala; Jolanda H. Schieving; Elliott H. Sherr; Andrew Shuen; Richard Sidlow; Thomas Smol; Julie Soblet; Pasquale Striano; Mohnish Suri; Hannes Syryn; Frédéric Tran Mau-Them; Andre M. Travessa; Julien Van Gils; Georgia Vasileiou; Jolijn J. A. Verseput; Catheline Vilain; Catherine Vincent-Delorme; Emílie Vyhnálková; Emma L. Wakeling; Pia Zacher; Federico Zara; Paul Kuentz; Juliette Piard
errShare
errSave
Neurofibromatosis-Noonan syndrome: a prospective monocentric study of 26 patients and literature review
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2025-04-27
err0
errOAAI
errBessis, Didier; Vidaud, Dominique; Meyer, Pierre; Pacot, Laurence; Villeon, de La G.; Bonnard, Adeline Alice; Capri, Yline; Coubes, Christine; Herman, Fanchon; Lacombe, Didier; Molinari, Nicolas; Poujade, Laura; Roubertie, Agathe; Van Gils, Julien; Verloes, Alain; Genevieve, David; Cave, Helene; Willems, Marjolaine
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errSave
ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2025-03-01
err0
errOAAI
errHoudayer, Clara; Rooney, Kathleen; van der Laan, Liselot; Bris, Celine; Alders, Marielle; Bahr, Angela; Barcia, Giulia; Battault, Clarisse; Begemann, Anais; Bonneau, Dominique; Bonnevalle, Antoine; Boughalem, Aicha; Bourges, Alice; Bournez, Marie; Bruel, Ange-Line; Buhas, Daniela; Carallis, Floriane; Cogne, Benjamin; Cormier-Daire, Valerie; Delanne, Julian; Demaret, Tanguy; Denomme-Pichon, Anne-Sophie; Desir, Julie; Dubourg, Christele; Fradin, Melanie; Genevieve, David; Goel, Himanshu; Goldenberg, Alice; Gripp, Karen W.; Guichet, Agnes; Guimier, Anne; Jacquinet, Adeline; Keren, Boris; Legoff, Louis; Levy, Michael A.; Mcconkey, Haley; Mendelsohn, Bryce A.; Mignot, Cyril; Milon, Vincent; Nizon, Mathilde; Oneda, Beatrice; Pasquier, Laurent; Patat, Olivier; Philippe, Christophe; Procaccio, Vincent; Procopio, Rebecca; Prouteau, Clement; Rambaud, Thomas; Rauch, Anita; Relator, Raissa; Rondeau, Sophie; Santen, Gijs W. E.; Schleit, Jennifer; Sorlin, Arthur; Steindl, Katharina; Tedder, Matt; Tessarech, Marine; Mau-Them, Frederic Tran; Trost, Detlef; van der Sluijs, Pleuntje J.; Vincent, Marie; Whalen, Sandra; Thauvin-Robinet, Christel; Isidor, Bertrand; Sadikovic, Bekim; Vitobello, Antonio; Colin, Estelle
errShare
errSave
Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2025-02-01
err0
PREAI
errVerbinnen, Iris; Houge, Sofia Douzgou; Hsieh, Tzung-Chien; Lesmann, Hellen; Kirchhoff, Aron; Genevieve, David; Brimble, Elise; Lenaerts, Lisa; Haesen, Dorien; Levy, Rebecca J.; Thevenon, Julien; Faivre, Laurence; Marco, Elysa; Chong, Jessica X.; Bamshad, Mike; Patterson, Karynne; Mirzaa, Ghayda M.; Foss, Kimberly; Dobyns, William; White, Susan M.; Pais, Lynn; O'Heir, Emily; Itzikowitz, Raphaela; Donald, Kirsten A.; van der Merwe, Celia; Mussa, Alessandro; Cervini, Raffaela; Giorgio, Elisa; Roscioli, Tony; Dias, Kerith-Rae; Evans, Carey-Anne; Brown, Natasha J.; Ruiz, Anna; Quintero, Juan Pablo Trujillo; Rabin, Rachel; Pappas, John; Yuan, Hai; Lachlan, Katherine; Thomas, Simon; Devlin, Anita; Wright, Michael; Martin, Richard; Karwowska, Joanna; Posmyk, Renata; Chatron, Nicolas; Stark, Zornitza; Heath, Oliver; Delatycki, Martin; Buchert, Rebecca; Korenke, Georg-Christoph; Ramsey, Keri; Narayanan, Vinodh; Grange, Dorothy K.; Weisenberg, Judith L.; Haack, Tobias B.; Karch, Stephanie; Kipkemoi, Patricia; Mangi, Moses; Heus, Karen G. C. B. Bindels de; Wit, Marie-Claire Y. de; Barakat, Tahsin Stefan; Lim, Derek; Van Winckel, Geraldine; Spillmann, Rebecca C.; Shashi, Vandana; Jacob, Maureen; Stehr, Antonia M.; Houge, Gunnar Douzgos; Janssens, Veerle
errShare
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Validation of a hypomorphic variant in CDK13 as the cause of CHDFIDD with autosomal recessive inheritance through determination of an episignature
errCLINICAL EPIGENETICS
IF4.4
err2025-01-13
err0
errOAAI
errFischer, Jan; Alders, Marielle; Mannens, Marcel M. A. M.; Genevieve, David; Hackmann, Karl; Schroeck, Evelin; Sadikovic, Bekim; Porrmann, Joseph
errShare
errSave
Discovery of DNA methylation signature in the peripheral blood of individuals with history of antenatal exposure to valproic acid
errGENETICS IN MEDICINE
IF6.2
err2024-10-01
err0
PREAI
errHaghshenas, Sadegheh; Putoux, Audrey; Reilly, Jack; Levy, Michael A.; Relator, Raissa; Ghosh, Sourav; Kerkhof, Jennifer; McConkey, Haley; Edery, Patrick; Lesca, Gaetan; Besson, Alicia; Coubes, Christine; Willems, Marjolaine; Ruiz-Pallares, Nathalie; Barat-Houari, Mouna; Tizzano, Eduardo F.; Valenzuela, Irene; Sabbagh, Quentin; Clayton-Smith, Jill; Jackson, Adam; Sullivan, James; Bromley, Rebecca; Banka, Siddharth; Genevieve, David; Sadikovic, Bekim
errShare
errSave
Abnormal Immune Profile in Individuals with Kabuki Syndrome
errJOURNAL OF CLINICAL IMMUNOLOGY
IF5.7
err2024-09-12
err0
PREAI
errComel, Margot; Saad, Norma; Sil, Debapratim; Apparailly, Florence; Willems, Marjolaine; Djouad, Farida; Andrau, Jean-Christophe; Lozano, Claire; Genevieve, David
errShare
errSave
Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement
errNATURE COMMUNICATIONS
IF15.7
err2024-08-06
err1
errOAAI
errLaflamme, Christy W.; Rastin, Cassandra; Sengupta, Soham; Pennington, Helen E.; Russ-Hall, Sophie J.; Schneider, Amy L.; Bonkowski, Emily S.; Almanza Fuerte, Edith P.; Allan, Talia J.; Zalusky, Miranda Perez-Galey; Goffena, Joy; Gibson, Sophia B.; Nyaga, Denis M.; Lieffering, Nico; Hebbar, Malavika; Walker, Emily V.; Darnell, Daniel; Olsen, Scott R.; Kolekar, Pandurang; Djekidel, Mohamed Nadhir; Rosikiewicz, Wojciech; Mcconkey, Haley; Kerkhof, Jennifer; Levy, Michael A.; Relator, Raissa; Lev, Dorit; Lerman-Sagie, Tally; Park, Kristen L.; Alders, Marielle; Cappuccio, Gerarda; Chatron, Nicolas; Demain, Leigh; Genevieve, David; Lesca, Gaetan; Roscioli, Tony; Sanlaville, Damien; Tedder, Matthew L.; Gupta, Sachin; Jones, Elizabeth A.; Weisz-Hubshman, Monika; Ketkar, Shamika; Dai, Hongzheng; Worley, Kim C.; Rosenfeld, Jill A.; Chao, Hsiao-Tuan; Neale, Geoffrey; Carvill, Gemma L.; Wang, Zhaoming; Berkovic, Samuel F.; Sadleir, Lynette G.; Miller, Danny E.; Scheffer, Ingrid E.; Sadikovic, Bekim; Mefford, Heather C.
errShare
errSave
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2024-08-01
err8
PREAI
errRots, Dmitrijs; Bouman, Arianne; Yamada, Ayumi; Levy, Michael; Dingemans, Alexander J. M.; de Vries, Bert B. A.; Ruiterkamp-Versteeg, Martina; de Leeuw, Nicole; Ockeloen, Charlotte W.; Pfundt, Rolph; de Boer, Elke; Kummeling, Joost; van Bon, Bregje; van Bokhoven, Hans; Kasri, Nael Nadif; Venselaar, Hanka; Alders, Marielle; Kerkhof, Jennifer; McConkey, Haley; Kuechler, Alma; Elffers, Bart; Calkoen, Rixje van Beeck; Hofman, Susanna; Smith, Audrey; Valenzuela, Maria Irene; Srivastava, Siddharth; Frazier, Zoe; Maystadt, Isabelle; Piscopo, Carmelo; Merla, Giuseppe; Balasubramanian, Meena; Santen, Gijs W. E.; Metcalfe, Kay; Park, Soo-Mi; Pasquier, Laurent; Banka, Siddharth; Donnai, Dian; Weisberg, Daniel; Strobl-Wildemann, Gertrud; Wagemans, Annemieke; Vreeburg, Maaike; Baralle, Diana; Foulds, Nicola; Scurr, Ingrid; Brunetti-Pierri, Nicola; van Hagen, Johanna M.; Bijlsma, Emilia K.; Hakonen, Anna H.; Courage, Carolina; Genevieve, David; Pinson, Lucile; Forzano, Francesca; Deshpande, Charu; Kluskens, Maria L.; Welling, Lindsey; Plomp, Astrid S.; Vanhoutte, Els K.; Kalsner, Louisa; Hol, Janna A.; Putoux, Audrey; Lazier, Johanna; Vasudevan, Pradeep; Ames, Elizabeth; O'Shea, Jessica; Lederer, Damien; Fleischer, Julie; O'Connor, Mary; Pauly, Melissa; Vasileiou, Georgia; Reis, Andre; Kiraly-Borri, Catherine; Bouman, Arjan; Barnett, Chris; Nezarati, Marjan; Borch, Lauren; Beunders, Gea; Ozcan, Kubra; Miot, Stephanie; Volker-Touw, Catharina M. L.; van Gassen, Koen L. I.; Cappuccio, Gerarda; Janssens, Katrien; Mor, Nofar; Shomer, Inna; Dominissini, Dan; Tedder, Matthew L.; Muir, Alison M.; Sadikovic, Bekim; Brunner, Han G.; Vissers, Lisenka E. L. M.; Shinkai, Yoichi; Kleefstra, Tjitske
errShare
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RNA variant assessment using transactivation and transdifferentiation
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2024-08-01
err0
errOAAI
errNicolas-Martinez, Emmylou C.; Robinson, Olivia; Pflueger, Christian; Gardner, Alison; Corbett, Mark A.; Ritchie, Tarin; Kroes, Thessa; van Eyk, Clare L.; Scheffer, Ingrid E.; Hildebrand, Michael S.; Barnier, Jean-Vianney; Rousseau, Veronique; Genevieve, David; Haushalter, Virginie; Piton, Amelie; Denomme-Pichon, Anne-Sophie; Bruel, Ange-Line; Nambot, Sophie; Isidor, Bertrand; Grigg, John; Gonzalez, Tina; Ghedia, Sondhya; Marchant, Rhett G.; Bournazos, Adam; Wong, Wui-Kwan; Webster, Richard I.; Evesson, Frances J.; Jones, Kristi J.; PERSYST Investigator Team, Kristi J.; Cooper, Sandra T.; Lister, Ryan; Gecz, Jozef; Jolly, Lachlan A.
errShare
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Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2024-06-01
err0
errOAAI
errKalm, Tassja; Schob, Claudia; Voeller, Hanna; Gardeitchik, Thatjana; Gilissen, Christian; Pfundt, Rolph; Kloeckner, Chiara; Platzer, Konrad; Klabunde-Cherwon, Annick; Ries, Markus; Syrbe, Steffen; Beccaria, Francesca; Madia, Francesca; Scala, Marcello; Zara, Federico; Hofstede, Floris; Simon, Marleen E. H.; van Jaarsveld, Richard H.; Oegema, Renske; van Gassen, Koen L. I.; Holwerda, Sjoerd J. B.; Barakat, Tahsin Stefan; Bouman, Arjan; Slegtenhorst, Marjon van; Alvarez, Sara; Fernandez-Jaen, Alberto; Porta, Javier; Accogli, Andrea; Mancardi, Margherita Maria; Striano, Pasquale; Iacomino, Michele; Chae, Jong-Hee; Jang, SeSong; Kim, Soo Y.; Chitayat, David; Mercimek-Andrews, Saadet; Depienne, Christel; Kampmeier, Antje; Kuechler, Alma; Surowy, Harald; Bertini, Enrico Silvio; Radio, Francesca Clementina; Mancini, Cecilia; Pizzi, Simone; Tartaglia, Marco; Gauthier, Lucas; Genevieve, David; Tharreau, Mylene; Azoulay, Noy; Zaks-Hoffer, Gal; Gilad, Nesia K.; Orenstein, Naama; Bernard, Genevieve; Thiffault, Isabelle; Denecke, Jonas; Herget, Theresia; Kortum, Fanny; Kubisch, Christian; Bahring, Robert; Kindler, Stefan
errShare
errSave
Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations
errCELL DEATH & DISEASE
IF9.6
err2024-05-30
err6
errOAAI
errWerren, Elizabeth A.; Peirent, Emily R.; Jantti, Henna; Guxholli, Alba; Srivastava, Kinshuk Raj; Orenstein, Naama; Narayanan, Vinodh; Wiszniewski, Wojciech; Dawidziuk, Mateusz; Gawlinski, Pawel; Umair, Muhammad; Khan, Amjad; Khan, Shahid Niaz; Genevieve, David; Lehalle, Daphne; van Gassen, K. L. I.; Giltay, Jacques C.; Oegema, Renske; van Jaarsveld, Richard H.; Rafiullah, Rafiullah; Rappold, Gudrun A.; Rabin, Rachel; Pappas, John G.; Wheeler, Marsha M.; Bamshad, Michael J.; Tsan, Yao-Chang; Johnson, Matthew B.; Keegan, Catherine E.; Srivastava, Anshika; Bielas, Stephanie L.
errShare
errSave

Research Directions

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Co-authors
Cooperation Journals
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Arnold Münnich
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William B. Dobyns
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