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Frédéric Tran Mau‐Them

inserm umr1231

36H-index
201Paper Count
4.1KCitation Count
Published Papers 97
Publication Date
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De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity
errNature Communications
IF15.7
err2026-07-01
err0
errOAAI
errAleš Hnízda; Beatriz Martinez-Delgado; Diana Sanchez-Ponce; Javier Alonso; Jeanne Amiel; Tania Attie-Bitach; Ariadna Bada-Navarro; Beatriz Baladron; Eva Bermejo-Sanchez; Vítězslav Brinsa; Ivana Buková; Rosario Cazorla-Calleja; Sylvie Červenková; Shanshan Chow; Petr Dušek; Olha Fedosieieva; Marta Fernandez-Prieto; Sourav Ghosh; Gema Gomez-Mariano; Andrea Gřegořová; Mark James Hamilton; Hana Hartmannová; Esther Hernandez-SanMiguel; Marina Herrero-Matesanz; Kateřina Hodaňová; Alan Kádek; Jennifer Kerkhof; Tjitske Kleefstra; Didier Lacombe; Michael A. Levy; Estrella Lopez-Martin; Ruaud Lyse; Petr Man; Purificacion Marin-Reina; Ellen F. Macnamara; Haley McConkey; Petra Melenovská; Lidia M. Mielu; David Moore; Lenka Steiner Mrázová; Karolína Musilová; Kristýna Neffeová; Petr Nickl; David Pajuelo Reguera; Martina Pavlíková; Lea Pavlovičová; Manuel Posada; Jan Procházka; Kateryna Pysanenko; Sheila Ramos del Saz; Dmitrijs Rots; Jessica Rzasa; Radislav Sedláček; Viktor Stránecký; František Špoutil; Matthew L. Tedder; Louise Thompson; Cynthia J. Tifft; Frederic Tran Mau-Them; Helena Trešlová; Antonio Vitobello; Sarah Hilton; Christopher Campbell; Siddharth Banka; Daniel Jirák; Bekim Sadikovic; Jakub Sikora; Stanislav Kmoch; Maria J. Barrero; Lenka Nosková
errShare
errSave
De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorder
errEuropean Journal of Human Genetics
IF4.6
err2026-01-28
err0
errOAAI
errCéline Jost; Tiffany Busa; Daniel Wegner; Marwan Shinawi; Elise Schaefer; Amélie Piton; Caroline Schluth-Bolard; Perrine Charles; Boris Keren; Katharina Mayerhanser; Theresa Brunet; Ulrich Schatz; Jennifer E. Neil; Christopher A. Walsh; Kathleen Sisco; Alexander J. Paul; Chung Lee; Natalie Dykzeul; Devon Bonner; Jonathan A. Bernstein; Erin Sutcliffe; Ingrid M. Wentzensen; Catherine Froehlich; Kaleigh Liebler; Patricia Galvin Parton; Jody Weiss-Burns; Chloé Sagnol; Julian Delanne; Caroline Racine; Christel Thauvin-Robinet; Hana Safraou; Frédéric Tran Mau-Them; Yannis Duffourd; Ange-Line Bruel; Laurence Faivre
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errSave
De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders
errNature Communications
IF15.7
err2026-01-23
err0
errOAAI
errKevin Uguen; Tiffany Bergot; Marie-Pier Scott-Boyer; Solène Chapalain; Camille Desdouets; Séverine Commet; Changlian Zhu; Yiran Xu; Yangong Wang; Tony Roscioli; Frederic Tran-Mau-Them; Laurence Faivre; Julien Maraval; Julian Delanne; Anne-Sophie Denommé-Pichon; Antonio Vitobello; Céline Jost; Marc Planes; Susan Hiatt; Patricia Wheeler; Claudia Gonzaga-Jauregui; Heng Wang; Baozhong Xin; Valerie Sency; Michael C. Kruer; Somayeh Bakhtiari; Patrick Sulem; Cynthia Curry; Trine Prescott; Gertrud Strobl-Wildemann; Theresa Brunet; Martine Doco Fenzy; Thomas Courtin; Céline Poirsier; Trine Bjørg Hammer; Christina D. Fenger; Melissa MacPherson; Kosuke Izumi; Jacqueline Leonard; Dong Li; Elaine H. Zackai; Ian A. Glass; Scott Ward; Philippe M. Campeau; Maria Carla Hermida Borroto; Laurence Le Moigno; Hilde Van Esch; Liesbeth De Waele; Daniel G. Calame; James R. Lupski; Giulia Barcia; Cristina Peduto; Pauline Planté-Bordeneuve; Lucie Dupuis; Roberto Mendoza-Londono; Dimitri J. Stavropoulos; Jennifer Gillibert-Duplantier; Thomas Besnard; Laura Do Souto Ferreira; Benjamin Cogné; Stéphane Bézieau; Arnaud Droit; Laurent Corcos; Eric Lippert; Claude Férec; Sebastien Küry; Delphine G. Bernard
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errSave
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis (Vol 135, e200195, 2025)
errJOURNAL OF CLINICAL INVESTIGATION
IF13.6
err2025-11-03
err1
PREAI
errGehin, Charlotte; Lone, Museer A.; Lee, Winston; Capolupo, Laura; Ho, Sylvia; Adeyemi, Adekemi M.; Gerkes, Erica H.; Stegmann, Alexander P. A.; Lopez-Martin, Estrella; Bermejo-Sanchez, Eva; Martinez-Delgado, Beatriz; Zweier, Christiane; Kraus, Cornelia; Popp, Bernt; Strehlow, Vincent; Grafe, Daniel; Knerr, Ina; Jones, Eppie R.; Zamuner, Stefano; Abriata, Luciano A.; Kunnathully, Vidya; Moeller, Brandon E.; Vocat, Anthony; Rommelaere, Samuel; Bocquete, Jean-Philippe; Ruchti, Evelyne; Limoni, Greta; Van Campenhoudt, Marine; Bourgeat, Samuel; Henklein, Petra; Gilissen, Christian; Van Bon, Bregje W.; Pfundt, Rolph; Willemsen, Marjolein H.; Schieving, Jolanda H.; Leonardi, Emanuela; Soli, Fiorenza; Murgia, Alessandra; Guo, Hui; Zhang, Qiumeng; Xia, Kun; Fagerberg, Christina R.; Beier, Christoph P.; Larsen, Martin J.; Valenzuela, Irene; Fernandez-Alvarez, Paula; Xiong, Shiyi; Smigiel, Robert; Lopez-Gonzalez, Vanesa; Armengol, Lluis; Morleo, Manuela; Selicorni, Angelo; Torella, Annalaura; Blyth, Moira; Cooper, Nicola S.; Wilson, Valerie; Oegema, Renske; Herenger, Yvan; Garde, Aurore; Bruel, Ange-Line; Mau-Them, Frederic Tran; Maddocks, Alexis B. R.; Bain, Jennifer M.; Bhat, Musadiq A.; Costain, Gregory; Kannu, Peter; Marwaha, Ashish; Champaigne, Neena L.; Friez, Michael J.; Richardson, Ellen B.; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Gupta, Yask; Lim, Tze Y.; Sanna-Cherchi, Simone; Lemaitre, Bruno; Yamaji, Toshiyuki; Hanada, Kentaro; Burke, John E.; Jaksic, Ana Marija; Mccabe, Brian D.; De Los Rios, Paolo; Hornemann, Thorsten; D'angelo, Giovanni; Gennarino, Vincenzo A.
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errSave
Exome sequencing in severe non-syndromic specific learning and language disorders in a French cohort
errMolecular Autism
IF5.5
err2025-11-01
err0
errOAAI
errEléonore Viora-Dupont; Julian Delanne; Aurore Garde; Sophie Nambot; Estelle Colin; Marie Bournez; Clémence Fauconnier-Fatus; Caroline Racine; Clément Simao De Souza; Céline Bernard; Agnès Maurer; Aurélie Espitalier; Christine Binquet; Marion Bouctot; Marie-Laure Humbert; Anne-Sophie Briffaut; Véronique Darmency; Patricia Plumet; Audrey Cotinaud-Ricou; Noémie Relin; Patrick Callier; Anne-Laure Mosca-Boidron; Nathalie Marle; Frederic Tran Mau-Them; Anne-Sophie Denommé-Pichon; Hana Safraou; Antonio Vitobello; Christophe Philippe; Yannis Duffourd; Ange-Line Bruel; Christel Thauvin-Robinet; Laurence Faivre
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PERIGENOMED-CLINICS 1-the first study on feasibility, acceptability and psychosocial impact of PERIGENOMED: a pilot project aimed at providing initial concrete evidence on the relevance of panel-based genome sequencing for newborn screening (NBS) in France
errBMJ OPEN
IF2.3
err2025-10-23
err1
errOAAI
errLevel, Camille; Thauvin-Robinet, Christel; Binquet, Christine; Duffourd, Yannis; Davoine, Emeline; Chevarin, Martin; Tran-Mau-Them, Frederic; Lemaitre, Margot; Bruel, Ange-Line; Safraou, Hana; Salvi, Dominique; Tisserant, Emilie; Lecommandeur, Emmanuelle; Charreton, Amandine; Hassine, Amir; de Tayrac, Marie; Redon, Richard; Barc, Julien; Schmitt, Sebatien; Piard, Juliette; Kuentz, Paul; Cormier, Coline; Malbos, Marlene; Racine, Caroline; Chabrol, Brigitte; Cheillan, David; Tardy, Veronique; Colin, Estelle; Bris, Celine; Mercier, Sandra; Nizon, Mathilde; Gaudillat, Lea; Loizeau, Virginie; Lenelle, Camille; Mottet, Nicolas; Simon, Emmanuel; Arnoux, Jean-Baptiste; Carpentier, Maud; Renaud, Catherine; Ziegler, Alban; Lejeune, Catherine; Jannot, Anne-Sophie; Asensio, Marie-Laure; Rollier, Paul; Odent, Sylvie; Bezieau, Stephane; Pasquier, Laurent; Huet, Frederic; Faivre, Laurence
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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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Further phenotypical delineation of DLG3-related neurodevelopmental disorders
errEuropean Journal of Human Genetics
IF4.6
err2025-09-22
err0
errOAAI
errMarlène Malbos; Thierry Gautier; Amelle Shillington; Estelle Colin; Xavier Le Guillou; Oana Caluseriu; Bertrand Isidor; Benjamin Cogné; Cyril Mignot; Boris Keren; Sacha Weber; Clémence Jacquin; Tracy Dudding; Daniel Calame; Juliette Piard; Jonathan Levy; Xenia Latypova; Alain Verloes; Tanguy Niclass; Aurélia Jacquette; Lori White; Marie-Pierre Moizard; Hélène Dollfus; Sébastien Moutton; Julian Delanne; Caroline Racine; Quentin Thomas; Anne-Sophie Denommé-Pichon; Frédéric Tran Mau-Them; Ange-Line Bruel; Hana Safraou; Christophe Philippe; Yannis Duffourd; Christel Thauvin-Robinet; Jérôme Govin; Antonio Vitobello; Laurence Faivre
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Bi-allelic deleterious variants in SNAPIN, which encodes a retrograde dynein adaptor, cause a prenatal-onset neurodevelopmental disorder
errThe American Journal of Human Genetics
IF0
err2025-09-09
err0
errOAAI
errHammad Yousaf; Maayke A. de Koning; Kamal Khan; Kelly L. Gilmore; Mariëtte J.V. Hoffer; Georgios Kellaris; Sophie Lanone; Maylis Dagouassat; Farid Ullah; Phebe N. Adama van Scheltema; Delphine Heron; Yline Capri; Alma Kuechler; Bernd Schweiger; Monique C. Haak; Boris Keren; Frederic Tran Mau Them; Cacha M.P.C.D. Peeters-Scholte; Frank J. Kaiser; Tamara T. Koopmann; Hailiang Mei; Binnaz Yalcin; Christel Depienne; Neeta L. Vora; Gijs W.E. Santen; Erica E. Davis
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errSave
The Arrival of Exome Sequencing in French Prenatal Diagnosis: An Exploratory Qualitative Study Among Professionals in Prenatal Diagnosis Centers: Prenatome-SHS
errPrenatal Diagnosis
IF2.7
err2025-07-22
err0
errOAAI
errCharlène Daval; Nicolas Meunier-Beillard; Eléonore Viora-Dupont; Julian Delanne; Aurore Garde; Caroline Racine; Frédéric Tran Mau-Them; Anne-Sophie Denommé-Pichon; Christophe Philippe; Ange-Line Bruel; Hana Safraou; Sylvie Odent; Chloé Quélin; Marine Legendre; Sophie Naudion; Médéric Jeanne; Marie-Line Jacquemont; Agnès Guichet; Camille Saldana; Anne-Marie Guerrot; Alice Goldenberg; Caroline Guégan; Marie Vincent; Audrey Putoux; Christine Francannet; Constance Wells; Chloé Arthuis; Elodie Alexandre; Thierry Rousseau; Olivia Martz; Emilie Simon; Ornella Magnien; Fanny Bobert; Sophie Bert; Frédéric Coatleven; Fanny Reveyaz; Perrine Moulinié; Christine Binquet; Christel Thauvin-Robinet; Laurence Faivre
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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
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The genetic and phenotypic spectrum of GABRB1-related disorders
errBrain
IF11.7
err2025-06-05
err0
errOAAI
errCharissa Millevert; Anthony Sze Hon Kan; Moritz Hanke; Mahmoud Koko; Maryam Erfanian Omidvar; Ulrike B S Hedrich; Thomas V Wuttke; Nina Barišić; Lieven Lagae; Ángel Aledo-Serrano; Eva-Maria Niehoff; Konrad Platzer; Pia Zacher; Tilman Polster; Robertino Dilena; Edoardo Monfrini; David Geneviève; Agathe Roubertie; Ange-Line Bruel; Frederic Tran Mau-Them; Majed Dasouki; Stacey Cohen; Ingo Helbig; Alicia G Harrison; Collin Ellis; Holly A Dubbs; Eric D Marsh; Sébastien Lebon; Na He; Heng Meng; Mary Chebib; Rikke S Møller; Carla Marini; Philip K Ahring; Holger Lerche; Sarah Weckhuysen
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errSave
Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics
errEBIOMEDICINE
IF10.8
err2025-05-01
err0
PREAI
errMak, Christopher C. Y.; Klinkhammer, Hannah; Choufani, Sanaa; Reko, Nikola; Christman, Angela K.; Pisan, Elise; Chui, Martin M. C.; Lee, Mianne; Leduc, Fiona; Dempsey, Jennifer C.; Sanchez-Lara, Pedro A.; Bombei, Hannah M.; Bernat, John A.; Faivre, Laurence; Mau-Them, Frederic Tran; Palafoll, Irene Valenzuela; Canham, Natalie; Sarkar, Ajoy; Zarate, Yuri A.; Callewaert, Bert; Bukowska-Olech, Ewelina; Jamsheer, Aleksander; Zankl, Andreas; Willems, Marjolaine; Duncan, Laura; Isidor, Bertrand; Cogne, Benjamin; Boute, Odile; Vanlerberghe, Clemence; Goldenberg, Alice; Stolerman, Elliot; Low, Karen J.; Gilard, Vianney; Amiel, Jeanne; Lin, Angela E.; Gordon, Christopher T.; Doherty, Dan; Krawitz, Peter M.; Weksberg, Rosanna; Hsieh, Tzung-Chien; Chung, Brian H. Y.
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Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2025-04-01
err0
errOAAI
errThauvin-Robinet, Christel; Garde, Aurore; Favier, Maud; Delanne, Julian; Racine, Caroline; Rousseau, Thierry; Nambot, Sophie; Bruel, Ange-Line; Moutton, Sebastien; Quelin, Chloe; Colson, Cindy; Brehin, Anne-Claire; Guerrot, Anne-Marie; Rooryck, Caroline; Putoux, Audrey; Blanchet, Patricia; Odent, Sylvie; Schaefer, Elise; Boute, Odile; Goldenberg, Alice; Guichet, Agnes; Abel, Carine; Morel, Godelieve; Fradin, Melanie; Isidor, Bertrand; Vincent, Marie; Francannet, Christine; Vera, Gabriella; Petit, Florence; Nizon, Mathilde; Wells, Constance; Jeanne, Mederic; Deiller, Caroline; Ziegler, Alban; Godin, Manon; Saugier-Veber, Pascale; Cassinari, Kevin; Blanc, Pierre; Simon, Emmanuel; Binquet, Christine; Duffourd, Yannis; Safraou, Hana; Denomme-Pichon, Anne-Sophie; Vitobello, Antonio; Philippe, Christophe; Faivre, Laurence; Tran-Mau-Them, Frederic; Bourgon, Nicolas
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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
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RICTOR variants are associated with neurodevelopmental disorders
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2024-12-30
err0
PREAI
errCarapito, Raphael; Molitor, Anne; Pavinato, Lisa; Skeyni, Alaa; Lambert, Magalie; Pichot, Angelique; Jiang, Jiuhong; Spinnhirny, Perrine; Zimmermann, Lucie; Boucher, Philippe; Chung, Clara W. T.; Elserafy, Noha; Blair, Edward M.; Li, Dong; Elisabeth, Bhoj; Kotzaeridou, Urania; Karch, Stephanie; Wagner, Matias; Lunsing, Roelineke J.; Pfundt, Rolph; Boycott, Kym M.; Bruel, Ange-Line; Mau-Them, Frederic Tran; Moutton, Sebastien; Conti, Valerio; Mei, Davide; Cetica, Valentina; Guerrini, Renzo; Brunet, Theresa; Rump, Patrick; Mussa, Alessandro; Brusco, Alfredo; Lemire, Gabrielle; de Vries, Bert B. A.; Miao, Zhichao; Isidor, Bertrand; Bahram, Seiamak
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errSave
The Phenotypic and Genotypic Spectrum of BRPF1-Related Disorder: 29 New Patients and Literature Review
errCLINICAL GENETICS
IF2.3
err2024-12-29
err0
errOAAI
errColson, Cindy; Tessarech, Marine; Boucher-Brischoux, Elise; Boute-Benejean, Odile; Vincent-Delorme, Catherine; Vanlerberghe, Clemence; Boussion, Simon; Le Cunff, Justine; Duban-Bedu, Benedicte; Faivre, Laurence; Thauvin, Christel; Philippe, Christophe; Bruel, Ange-Line; Mau-Them, Frederic Tran; Houdayer, Clara; Lesca, Gaetan; Putoux, Audrey; Levy, Jonathan; Patat, Olivier; Rio, Marlene; Ghoumid, Jamal; Smol, Thomas
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Further delineation of the SCAF4-associated neurodevelopmental disorder
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2024-12-12
err0
errOAAI
errSchmid, Cosima M.; Gregor, Anne; Ruiz, Anna; Manso Bazus, Carmen; Herman, Isabella; Ammouri, Farah; Kotzaeridou, Urania; Mcniven, Vanda; Dupuis, Lucie; Steindl, Katharina; Begemann, Anais; Rauch, Anita; Suter, Aude-Annick; Isidor, Bertrand; Mercier, Sandra; Nizon, Mathilde; Cogne, Benjamin; Deb, Wallid; Besnard, Thomas; Haack, Tobias B.; Falb, Ruth J.; Mueller, Amelie J.; Linden, Tobias; Haldeman-Englert, Chad R.; Ockeloen, Charlotte W.; Mattioli, Francesca; Reymond, Alexandre; Ibrahim, Nazia; Naz, Shagufta; Lacaze, Elodie; Bassetti, Jennifer A.; Hoefele, Julia; Brunet, Theresa; Riedhammer, Korbinian M.; Elloumi, Houda Z.; Person, Richard; Zou, Fanggeng; Kahle, Juliette J.; Cremer, Kirsten; Schmidt, Axel; Delrue, Marie-Ange; Almeida, Pedro M.; Ramos, Fabiana; Srivastava, Siddharth; Quinlan, Aisling; Robertson, Stephen; Manka, Eva; Kuechler, Alma; Spranger, Stephanie; Nowaczyk, Malgorzata J. M.; Elshafie, Reem M.; Alsharhan, Hind; Hillman, Paul R.; Dunnington, Leslie A.; Braakman, Hilde M. H.; Mckee, Shane; Moresco, Angelica; Ignat, Andrea-Diana; Newbury-Ecob, Ruth; Banneau, Guillaume; Patat, Olivier; Kuerbitz, Jeffrey; Rzucidlo, Susan; Sell, Susan S.; Gordon, Patricia; Schuhmann, Sarah; Reis, Andre; Halleb, Yosra; Stoeva, Radka; Keren, Boris; Al Masseri, Zainab; Tuemer, Zeynep; Hammer-Hansen, Sophia; Krueger Solyst, Sofus; Steigerwald, Connolly G.; Abreu, Nicolas J.; Faust, Helene; Mueller-Nedebock, Amica; Tran Mau-Them, Frederic; Sticht, Heinrich; Zweier, Christiane
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Clinical Spectrum and Prognosis of Atypical Autosomal Dominant Polycystic Kidney Disease Caused by Monoallelic Pathogenic Variants of IFT140
errAMERICAN JOURNAL OF KIDNEY DISEASES
IF8.2
err2024-12-01
err0
PREAI
errZagorec, N; Calamel, A; Delaporte, M; Olinger, E; Orr, S; Sayer, JA; Pillay, VG; Denommé-Pichon, AS; Mau-Them, FT; Nambot, S; Faivre, L; Ars, E; Torra, R; Ong, ACM; Devuyst, O; Perico, N; Després, AM; Lemoine, H; de Fallois, J; Brousse, R; Hummel, A; Knebelmann, B; Maisonneuve, N; Halbritter, J; Le Meur, Y; Audrézet, MP; Cornec-Le Gall, E
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errSave
MARK2 variants cause autism spectrum disorder via the downregulation of WNT/b-catenin signaling pathway
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2024-11-01
err1
errOAAI
errGong, Maolei; Li, Jiayi; Qin, Zailong; Wilke, Matheus Vernet Machado Bressan; Liu, Yijun; Li, Qian; Liu, Haoran; Liang, Chen; Morales-Rosado, Joel A.; Cohen, Ana S. A.; Hughes, Susan S.; Sullivan, Bonnie R.; Waddell, Valerie; van den Boogaard, Marie-Jose H.; van Jaarsveld, Richard H.; van Binsbergen, Ellen; van Gassen, Koen L.; Wang, Tianyun; Hiatt, Susan M.; Amaral, Michelle D.; Kelley, Whitley, V; Zhao, Jianbo; Feng, Weixing; Ren, Changhong; Yu, Yazhen; Boczek, Nicole J.; Ferber, Matthew J.; Lahner, Carrie; Elliott, Sherr; Ruan, Yiyan; Mignot, Cyril; Keren, Boris; Xie, Hua; Wang, Xiaoyan; Popp, Bernt; Zweier, Christiane; Piard, Juliette; Coubes, Christine; Mau-Them, Frederic Tran; Safraou, Hana; Innes, A. Micheil; Gauthier, Julie; Michaud, Jacques L.; Koboldt, Daniel C.; Sylvie, Odent; Willems, Marjolaine; Tan, Wen-Hann; Cogne, Benjamin; Rieubland, Claudine; Braun, Dominique; Mclean, Scott Douglas; Platzer, Konrad; Zacher, Pia; Oppermann, Henry; Evenepoel, Lucie; Blanc, Pierre; El Khattabi, Laila; Haque, Neshatul; Dsouza, Nikita R.; Zimmermann, Michael T.; Urrutia, Raul; Klee, Eric W.; Shen, Yiping; Du, Hongzhen; Rappaport, Leonard; Liu, Chang-Mei; Chen, Xiaoli
errShare
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Research Directions

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H
Håkon Håkonarson
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