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Cyril Mignot

groupe hospitalier pitié-salpêtrière-hôpital trousseau

68H-index
393Paper Count
1.7WCitation Count
Published Papers 182
Publication Date
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Eating behaviour phenotype in the MYT1L-related neurodevelopmental disorder: a deep phenotyping study using standardized questionnaires
errOrphanet Journal of Rare Diseases
IF3.5
err2026-07-21
err0
errOAAI
errJuliette Coursimault; Emilie Guillon; François Lecoquierre; Camille Charbonnier; Anne-Marie Guerrot; Alice Goldenberg; Gaël Nicolas; Elise Schaefer; Anael Ayrolles; Richard Delorme; Florence Riccardi; Maude Grelet; Roseline Caumes; Mathilde Nizon; Bertrand Isidor; Guillaume Jouret; Caroline Rooryck; Jeanne Amiel; Anne-Sophie Alaix; Victor Morel; Adeline Jacquinet; Cyril Mignot; Laurence Faivre; Emilie Fraile-Caietta; Sarah Chalopin; Béatrice Dubern; Christine Poitou
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Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diverse than assumed
errGenetics in Medicine
IF6.2
err2026-06-19
err0
errOAAI
errSilvestre Cuinat; Valérie Cormier-Daire; Jeremie Rosain; Céline Huber; Elsa Ferriere; Benjamin Fournier; Morgane Cheminant; Martin Castelle; Paul Bastard; Nicolas Noel; Katia Bourdic; Capucine Picard; Despina Moshous; Virginie Courteille; Nizar Mahlaoui; Jacinta Bustamante; Gislène Collobert; Cyril Mignot; Boris Keren; Séverine Drunat
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A large cohort study of prenatal exome sequencing redefines diagnosis in fetal corpus callosum anomalies
errBRAIN
IF11.7
err2025-11-01
err0
PREAI
errHeron, Delphine; Gerasimenko, Anna; Frugere, Lisa; Ducourneau, Jade; Rossi, Capucine; Nava, Caroline; De Sainte-Agathe, Jean-Madeleine; Mignot, Cyril; Lehalle, Daphne; Grotto, Sarah; El-Khattabi, Laila; Nguyen, Toan; Garel, Catherine; Blondiaux, Eleonore; Milh, Mathieu; Desnous, Beatrice; Girard, Nadine; des Portes, Vincent; Guibaud, Laurent; Sabatier, Isabelle; Patat, Olivier; Julia, Sophie; Benachi, Alexandra; Vivanti, Alexandre; Picone, Olivier; Guet, Agnes; Nizon, Mathilde; Vincent, Marie; Conrad, Solene; Le Vaillant, Claudine; Billette De Villemeur, Thierry; Moutton, Sebastien; Tsatsaris, Vassilis; Guilbaud, Lucie; Jouannic, Jean-Marie; Valence, Stephanie; Keren, Boris; Heide, Solveig
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Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function
errNature Genetics
IF29
err2025-10-22
err0
errOAAI
errReza Asadollahi; Aisha Ahmad; Paranchai Boonsawat; Jasmine Shahanoor Hinzen; Mareike Lohse; Boris Bouazza-Arostegui; Siqi Sun; Tillmann Utesch; Jonas D. Sommer; Dragana Ilic; Murugesh Padmanarayana; Kati Fischermanns; Mrinalini Ranjan; Moritz Boll; Chandran Ka; Amélie Piton; Francesca Mattioli; Bertrand Isidor; Katrin Õunap; Karit Reinson; Monica H. Wojcik; Christian R. Marshall; Saadet Mercimek-Andrews; Naomichi Matsumoto; Noriko Miyake; Bruno de Oliveira Stephan; Rachel Sayuri Honjo; Debora R. Bertola; Chong Ae Kim; Roman Yusupov; Heather C. Mefford; John Christodoulou; Joy Lee; Oliver Heath; Natasha J. Brown; Naomi Baker; Zornitza Stark; Martin Delatycki; Nicole J. Lake; Shimriet Zeidler; Linda Zuurbier; Saskia M. Maas; Chris C. de Kruiff; Farrah Rajabi; Lance H. Rodan; Stephanie A. Coury; Konrad Platzer; Henry Oppermann; Rami Abou Jamra; Skadi Beblo; Caroline Maxton; Robert Śmigiel; Hunter Underhill; Holly Dubbs; Alyssa Rosen; Katherine L. Helbig; Ingo Helbig; Sarah McKeown Ruggiero; Mark P. Fitzgerald; Dennis Kraemer; Carlos E. Prada; Jeffrey Tenney; Parul Jayakar; Sylvia Redon; Jérémie Lefranc; Kevin Uguen; Simone Race; Stephanie Efthymiou; Reza Maroofian; Henry Houlden; Sandra Coppens; Nicolas Deconinck; Balasubramaniem Ashokkumar; Perumal Varalakshmi; Vykunta Raju Gowda K; Fatemeh Eghbal; Ehsan Ghayoor Karimiani; Morteza Heidari; John Neidhardt; Marta Owczarek-Lipska; G. Christoph Korenke; Michael J. Bamshad; Philippe M. Campeau; Anna Lehman; Laura G. Hendon; Ingrid M. Wentzensen; Kristin G. Monaghan; Yanmin Chen; Anna Szuto; Ronald D. Cohn; Ping Yee Billie Au; Christoph Hübner; Felix Boschann; Kandamurugu Manickam; Daniel C. Koboldt; Aboulfazl Rad; Gabriela Oprea; Kristine K. Bachman; Andrea H. Seeley; Emanuele Agolini; Alessandra Terracciano; Piscopo Carmelo; Caleb Bupp; Bethany Grysko; Annick Rein-Rothschild; Bruria Ben Zeev; Amy Margolin; Jennifer Morrison; Aditi Dagli; Elliot Stolerman; Raymond J. Louie; Camerun Washington; Servi J. C. Stevens; Malou Heijligers; Fowzan S. Alkuraya; Jasmin Lisfeld; Axel Neu; Fabíola Paoli Monteiro; André Luiz Santos Pessoa; Antonio Edvan Camelo-Filho; Fernando Kok; Dwight Koeberl; Kacie Riley; Lydie Burglen; Diane Doummar; Bénédicte Héron; Cyril Mignot; Boris Keren; Perrine Charles; Caroline Nava; Felix P. Bernhard; Andrea A. Kühn; Sven Thoms; Ryan D. Morrie; Shila Mekhoubad; Eric M. Green; Sami J. Barmada; Aaron D. Gitler; Olaf Jahn; Jeong Seop Rhee; Christian Rosenmund; Mišo Mitkovski; Heinrich Sticht; Han Sun; Gerald Le Gac; Holger Taschenberger; Nils Brose; Jeremy S. Dittman; Anita Rauch; Noa Lipstein
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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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Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders
errThe American Journal of Human Genetics
IF0
err2025-09-22
err0
PREAI
errJohnny Bou-Rouphael; Auriane Cospain; Thomas Courtin; Boris Keren; Corentine Marie; Marion Lesieur-Sebellin; Delphine Heron; Jean-Madeleine de Sainte Agathe; Solveig Heide; Elodie Lejeune; Chloe Quelin; François Lecoquierre; Mathilde Nizon; Bertrand Isidor; Thomas Besnard; Benjamin Cogne; Xenia Latypova; Jonathan Levy; Pascal Joset; Katharina Steindl; Maria Palomares-Bralo; Fernando Santos-Simarro; Mary Ann Thomas; Amina Abubakar; Sally Ann Lynch; Amelie J. Müller; Tobias B. Haack; Martin Zenker; Michael Parker; Emma Clossick; Michael Spiller; Renarta Crookes; Muriel Holder-Espinasse; Allan Bayat; Rikke S. Møller; Tomasz Stanislaw Mieszczanek; Pierre de la Grange; Julien Buratti; Pierre Marijon; Sabir Ataf; Ryan Gavin; Carlos Parras; Bassem A. Hassan; Cyril Mignot; Laïla El Khattabi
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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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The Clinical and Genetic Landscape of a French Multicenter Cohort of 2563 Epilepsy Patients Referred for Genetic Diagnosis
errEuropean Journal of Neurology
IF3.9
err2025-08-08
err0
errOAAI
errJean-Madeleine de Sainte Agathe; Pauline Monin; Florence Riccardi; Caroline Nava; Lionel Arnaud; Cyril Mignot; Dorothée Ville; Stéphane Auvin; Sandrine Tardieu; Kathy Larcher; Isabelle Gourfinkel-An; Mathilde Canon; Vincent Navarro; Bénédicte Héron; Sophie Julia; Diane Doummar; Marie-Line Jacquemont; Hélène Maurey; Blandine Dozières-Puyravel; Laurence Perrin; Laurent Pasquier; Christèle Dubourg; Sylvie Odent; Abdelhakim Bouazzaoui; Wilfrid Carre; Mélanie Fradin; Florence Demurger; Nicolas Chatron; Damien Sanlaville; Miriam Essid; Vincent des Portes; Eleni Panagiotakaki; Anne-Lise Poulat; Clotilde Rivier; Catherine Sarret; Ganaëlle Remerand; Cecilia Altuzarra; Radka Stoeva; Sylvie Nguyen; Juliette Piard; Élise Boucher; Vincent Flurin; Anne-Marie Guerrot; Sylvie Joriot; Béatrice Desnous; Nathalie Villeneuve; Anne Lépine; Caroline Hachon-Le Camus; Laurent Villard; Marie Faoucher; Mathieu Milh; Gaëtan Lesca; Éric Leguern
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The Two Faces of Pediatric SCA2
errEuropean Journal of Neurology
IF3.9
err2025-07-31
err0
errOAAI
errNicolas Rive Le Gouard; Maissa G. Bah; Giulia Coarelli; Anna Heinzmann; Anne-Laure Fauret; Jean-Madeleine de Sainte-Agathe; Cécile Cazeneuve; Anna Gerasimenko; Domitille Gras; Yline Capri; Mathilde Renaud; Bernard Brais; Cecile Grenenko; Alice Masurel; Patrick Berquin; Florence Jobic; Julia Métreau; Kumaran Deiva; Alexandra Afenjar; Victor Gravrand; Annie Lannuzel; Mathieu Anheim; Tobias Geis; Ute Hehr; Jennifer Madan Cohen; Béatrice Desnous; Anneke J. A. Kievit; Nadia Bahi-buisson; Diana Rodriguez; Florence Renaldo; Claude Cances; David Devos; Chloé Angelini; Cyril Goizet; Claire Ewenczyk; Alexandra Durr; Cyril Mignot
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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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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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Two hundred and fifty cases of Gaucher disease type 2 : A novel system of clinical categorization and evidence of genotype: phenotype correlation
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errDonalda, Aimee; Brothwellb, Shona; Ehrstedtc, Christoffer; Fernandez-Fructuosod, Jose Ramon; Leguinae, Domingo Gonzalez-Lamuno; Garciaf, Jose Maria Lloreda; Mignotg, Cyril; Munozh, Beatriz; Nursei, James H.; O'Sullivanj, Siobhan; Perssonk, Anna Nielsen; Raimanl, Julian A.; Rajanm, Deepa; Uberosn, Jose; Joneso, Simon; Churchp, Heather J.
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CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature
errHUMAN GENETICS AND GENOMICS ADVANCES
IF3.6
err2025-01-01
err0
errOAAI
errvan der Laan, Liselot; Silva, Ananilia; Kleinendorst, Lotte; Rooney, Kathleen; Haghshenas, Sadegheh; Lauffer, Peter; Alanay, Yasemin; Bhai, Pratibha; Brusco, Alfredo; de Munnik, Sonja; de Vries, Bert B. A.; Vega, Angelica Delgado; Engelen, Marc; Herkert, Johanna C.; Hochstenbach, Ron; Hopman, Saskia; Kant, Sarina G.; Kira, Ryutaro; Kato, Mitsuhiro; Keren, Boris; Kroes, Hester Y.; Levy, Michael A.; Lock-Hock, Ngu; Maas, Saskia M.; Mancini, Grazia M. S.; Marcelis, Carlo; Matsumoto, Naomichi; Mizuguchi, Takeshi; Mussa, Alessandro; Mignot, Cyril; Narhi, Anu; Nordgren, Ann; Pfundt, Rolph; Polstra, Abeltje M.; Trajkova, Slavica; van Bever, Yolande; van den Boogaard, Marie Jose; van der Smagt, Jasper J.; Barakat, Tahsin Stefan; Alders, Marielle; Mannens, Marcel M. A. M.; Sadikovic, Bekim; van Haelst, Mieke M.; Henneman, Peter
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Phenotypic traits and family history in patients with 22q11.2 deletion syndrome and generalized epilepsy: A multicenter case-control study
errEPILEPSIA
IF6.6
err2024-12-24
err0
PREAI
errCerulli Irelli, Emanuele; Fanella, Martina; Chaumette, Boris; Putotto, Carolina; Mignot, Cyril; Mazzeo, Adolfo; Lemke, Johannes R.; Riva, Antonella; Accinni, Tommaso; Louveau, Cecile; Giovannetti, Agnese; Pugnaloni, Flaminia; Gavaret, Martine; Di Fabio, Fabio; Fortunato, Francesco; Dorn, Thomas; Ferlazzo, Edoardo; Gambardella, Antonio; Ramantani, Georgia; Orlando, Biagio; Iftimovici, Anton; Operto, Francesca F.; Pulvirenti, Federica; Kluger, Gerhard; Caputo, Viviana; Striano, Pasquale; Di Bonaventura, Carlo
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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
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Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder
errPEDIATRIC NEUROLOGY
IF2.1
err2024-11-01
err1
PREAI
errBorroto, Maria Carla; Patel, Heena; Srivastava, Siddharth; Swanson, Lindsay C.; Keren, Boris; Whalen, Sandra; Mignot, Cyril; Wang, Xiaodong; Chen, Qian; Rosenfeld, Jill A.; McLean, Scott; Littlejohn, Rebecca O.; Emrick, Lisa; Burrage, Lindsay C.; Attali, Ruben; Lesca, Gaetan; Acquaviva-Bourdain, Cecile; Sarret, Catherine; Seaver, Laurie H.; Platzer, Konrad; Bartolomaeus, Tobias; Wuensch, Cornelia; Fischer, Susann; Barreto, Ana Maria Rodriguez; Granadillo, Jorge L.; Schreiner, Elisabeth; Brunet, Theresa; Schatz, Ulrich A.; Thiffault, Isabelle; V. Mullegama, Sureni; Michaud, Jacques L.; Hamdan, Fadi F.; Rossignol, Elsa; Campeau, Philippe M.
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Epg5 links proteotoxic stress due to defective autophagic clearance and epileptogenesis in Drosophila and Vici syndrome patients
errAUTOPHAGY
IF14.3
err2024-10-10
err1
errOAAI
errDeneubourg, Celine; Salimi Dafsari, Hormos; Lowe, Simon; Martinez-Cotrina, Aitana; Mazaud, David; Park, Seo Hyun; Vergani, Virginia; Almacellas Barbanoj, Amanda; Maroofian, Reza; Averdunk, Luisa; Ghayoor-Karimiani, Ehsan; Jayawant, Sandeep; Mignot, Cyril; Keren, Boris; Peters, Renate; Kamath, Arveen; Mattas, Lauren; Verma, Sumit; Silwal, Arpana; Distelmaier, Felix; Houlden, Henry; Lignani, Gabriele; Antebi, Adam; Jepson, James; Jungbluth, Heinz; Fanto, Manolis
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Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesis
errHUMAN GENETICS
IF3.6
err2024-10-04
err0
PREAI
errCogan, Guillaume; Zaki, Maha S.; Issa, Mahmoud; Keren, Boris; Guillaud-Bataille, Marine; Renaldo, Florence; Isapof, Arnaud; Lallemant, Pauline; Stevanin, Giovanni; Guillot-Noel, Lena; Courtin, Thomas; Buratti, Julien; Freihuber, Cecile; Gleeson, Joseph G.; Howarth, Robyn; Durr, Alexandra; Agathe, Jean-Madeleine de Sainte; Mignot, Cyril
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Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function
errHUMAN GENETICS AND GENOMICS ADVANCES
IF3.6
err2024-10-01
err2
errOAAI
errCarpentieri, Giovanna; Cecchetti, Serena; Bocchinfuso, Gianfranco; Radio, Francesca Clementina; Leoni, Chiara; Onesimo, Roberta; Calligari, Paolo; Pietrantoni, Agostina; Ciolfi, Andrea; Ferilli, Marco; Calderan, Cristina; Cappuccio, Gerarda; Martinelli, Simone; Messina, Elena; Caputo, Viviana; Hueffmeier, Ulrike; Mignot, Cyril; Auvin, Stephane; Capri, Yline; Lourenco, Charles Marques; Russell, Bianca E.; Neustad, Ahna; Pierri, Nicola Brunetti; Keren, Boris; Reis, Andre; Cohen, Julie S.; Heidlebaugh, Alexis; Smith, Clay; Thiel, Christian T.; Salviati, Leonardo; Zampino, Giuseppe; Campeau, Philippe M.; Stella, Lorenzo; Tartaglia, Marco; Flex, Elisabetta
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POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxia
errEPILEPSIA
IF6.6
err2024-09-30
err0
errOAAI
errSymonds, Joseph D.; Park, Kristen L.; Mignot, Cyril; Macleod, Stewart; Armstrong, Martin; Ashrafian, Houman; Bernard, Genevieve; Brown, Kathleen; Brunklaus, Andreas; Callaghan, Mary; Classen, Georg; Cohen, Julie S.; Cutcutache, Ioana; Agathe, Jean-Madeleine de Sainte; Dyment, David; Elliot, Katherine S.; Isapof, Arnaud; Joss, Shelagh; Keren, Boris; Marble, Michael; McTague, Amy; Osmond, Matthew; Page, Matthew; Planes, Marc; Platzer, Konrad; Redon, Sylvia; Reese, James; Saenz, Margarita; Smith-Hicks, Constance; Stobo, Daniel; Stockhaus, Christian; Vuillaume, Marie-Laure; Wolf, Nicole I.; Wakeling, Emma L.; Yoon, Grace; Knight, Julian C.; Zuberi, Sameer M.
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Research Directions

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Co-authors
Cooperation Journals
M
M Snyder
H-index: 210 · Papers: 3.3K
J
John Hardy
H-index: 207 · Papers: 1.9K
A
Alexis Brice
H-index: 153 · Papers: 1.2K
I
Ingrid E. Scheffer
H-index: 141 · Papers: 1.0K
H
Henry Houlden
H-index: 120 · Papers: 1.5K
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