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C

Cyril Goizet

chu de bordeaux

65H指数
320论文数
1.4W被引数
收录论文 152
发表时间
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Towards routine genetic testing of repeat expansions in neurogenetic diseases using multiplex CRISPR-Cas9-targeted long read sequencing利用多重CRISPR-Cas9靶向长读长测序对神经遗传病中的重复扩张进行常规基因检测
errScientific Reports
IF3.9
err2026-08-03
err0
errOAAI
errPatricia Fergelot; Christophe Boury; Benjamin Penaud; Anne-Gaelle Giguet-Valard; Marie-Claire Vincent; Kevin Mouzat; Virginie Raclet; Marie-Pierre Baudier; Caroline Rooryck; Benoit Arveiler; Rémi Bellance; Claire Guissart; Cécilia Marelli; Olivier Lepais; Cyril Goizet; Giovanni Stevanin
err分享
err收藏
CMIP as a novel candidate gene for neurodevelopmental and neuropsychiatric disordersCMIP作为神经发育和神经精神障碍的新型候选基因
errEuropean Journal of Human Genetics
IF4.6
err2026-07-01
err0
PREAI
errMatthias De Wachter; Mathijs B. van der Lei; Amber Decleve; Kevin De Man; Ellen Elinck; An-Sofie Schoonjans; Evan Gouy; Louis Januel; Pauline Monin; Audrey Labalme; Amelle Shillington; Himanshu Goel; Juliet P. Taylor; Katherine Neas; David A. Koolen; Francois Lecoquierre; Alice Goldenberg; Theresa Brunet; Melanie Brugger; Minjie Luo; Magdalena Krygier; Maria Mazurkiewicz-Bełdzińska; Manon Degoutin; Claire Beneteau; Cyril Goizet; David D. Weaver; Emily G. Farrow; Angela Lee; Randi N. Gadea; Berten Ceulemans; Peter A. M. de Witte; Daniëlle Copmans; Anna C. Jansen; R. Frank Kooy
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err收藏
STUB1 (SCA48)/TBP (SCA17): A Frequent Association Still Not Fully Explained and a Lower Threshold for Intermediate Expanded TBP AllelesSTUB1 (SCA48)/TBP (SCA17): 一种频繁关联但仍未完全解释，且对中间扩展TBP等位基因有更低阈值
errMovement Disorders
IF7.6
err2026-03-27
err0
errOAAI
errCecilia Marelli MD, PhD; Quentin Charret PhD; Cyril Goizet MD, PhD; Julien Thevenon MD, PhD; Virginie Bernard PhD; Fabienne Ory Magne MD; Manon Degoutin MD; Patricia Fergelot MD, PhD; Mathilde Renaud MD, PhD; Michel Koenig MD, PhD; Francis Ramond MD, PhD
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A new variant in the UCHL1 gene supporting its implication in late-onset ataxia with optic atrophyUCHL1基因的一个新变异，支持其与迟发性共济失调伴视神经萎缩的关联性
errNeurological Sciences
IF2.4
err2025-12-17
err0
PREAI
errValeria Gioiosa; Christian Marcotulli; Manon Degoutin; Chloé Angelini; Cyril Goizet; Alessandra Tessa; Filippo Maria Santorelli; Carlo Casali
err分享
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Huntington's Disease and Huntington's Disease-like 2 (HDL2) in Martinique亨廷顿病和亨廷顿病样2型(HDL2)在马提尼克岛
errMovement Disorders Clinical Practice
IF2.7
err2025-10-11
err0
errOAAI
errIgnacio Antolin-Sanfeliz MS; Anna-Gaelle Giguet-Valard MS, PhD; Sophie Duclos MD; Cécile Cazeneuve MS, PhD; Chloé Angelini MD; Aïssatou Signaté MD; Russell L. Margolis MD; Cyril Goizet MD, PhD; Rémi Bellance MD
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Type and position of repeat interruptions as determinants of disease severity and expansion size in Friedreich ataxia重复中断的类型和位置作为影响 Friedreich 共济失调疾病严重程度和扩展尺寸的决定因素
errGenetics in Medicine
IF6.2
err2025-09-23
err0
PREAI
errMehdi Benkirane; Cecilia Marelli; Ariane Choumert; Cyril Goizet; Olivier Patat; Claire Ewenczyk; Mathieu Anheim; André Mégarbané; Lise Larrieu; Cyril Charlin; Fabienne Ory Magne; Annabelle Chaussenot; Mélanie Fradin; Claire Guissart; Morgane Pointaux; Mireille Cossée; Marie-Claire Vincent; Anne Bergougnoux; Clément Hersent; Corinne Bareil; Agathe Roubertie; Frédérique Fluchère; Mathilde Renaud; Laurent Kremer; Christine Tranchant; Shahram Attarian; Sylvie Odent; Vincent Laugel; Ulrike Walther-Louvier; Beatrice Desnous; Eric Bieth; Isabelle Husson; Jean Phillipe Azulay; François Rivier; Bérénice Doray; Alexandra Durr; Safa Aouinti; Nicolas Molinari; Michel Koenig
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The Two Faces of Pediatric SCA2SCA2儿科的两种面相
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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GABRA2-related encephalopathy: Identification of two phenotypes with distinctive electroclinical featuresGABRA2相关脑病：鉴定出两种具有不同电临床特征的表型
errEpilepsia
IF6.6
err2025-06-18
err0
errOAAI
errMarie Adamo-Croux; Chloé Angelini; Jérôme Aupy; Laurent Villard; Nathalie Villeneuve; Arnaud Chefdor; Yorsa Halleb; Maxime Colmard; Manon Degoutin; Gaetan Lesca; Perrine Charles; Boris Keren; Nicole Chemaly; Cyril Goizet; Mathieu Milh; Claire Bar
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err收藏
French guidelines for the diagnosis and management of pure hereditary spastic paraplegia法国关于纯合遗传性痉挛性截瘫的诊断和管理指南
errRevue Neurologique
IF2.3
err2025-05-30
err0
errOAAI
errL. Mania-Pâris; C. Ewenczyk; G. Nicolas; M. Anheim; A. Durr; B. Pichon; M.-E. Isner-Horobeti; C. Angelini; C. Goizet; A. Roubertie; B. Soudrie; J.-B. Davion; I. Marolleau; I. Maumy; V. Pichon; C. Thauvin; Q. Thomas
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err收藏
AP4B1 hypomorphic variants cause autosomal recessive adult-onset ataxiaAP4B1低活性变异导致常染色体隐性成人发病型共济失调
errJOURNAL OF NEUROLOGY
IF4.6
err2025-01-17
err0
errOAAI
errSabbagh, Quentin; Poblete, Natalia Hernandez; Angelini, Chloe; Hersent, Clement; Benkirane, Mehdi; Pointaux, Morgane; Larrieu, Lise; Castrioto, Anna; Deberge, Louise; Fluchere, Frederique; Ramond, Francis; Lesca, Gaetan; Koenig, Michel; Goizet, Cyril
err分享
err收藏
FLNA genomic rearrangements in a 391 French bilateral periventricular nodular heterotopia cohort: prevalence and phenotypic correlations
errJOURNAL OF MEDICAL GENETICS
IF3.7
err2025-01-08
err0
PREAI
errMargot, Henri; Hernandez Poblete, Natalia; Angelini, Chloe; Desforges, Julie; Bouron, Julie; Arveiler, Benoit; Rooryck, Caroline; Goizet, Cyril; Fergelot, Patricia
err分享
err收藏
Prevalence of Fabry disease in patients with chronic pain: Lessons from the DOUFAB and DOUFABIS studies
errEUROPEAN JOURNAL OF PAIN
IF3.4
err2024-08-04
err0
errOAAI
errAngelini, Chloe; Bar, Claire; Baudier, Marie Pierre; Fergelot, Patricia; Lancelot, Gwenaelle; Rooryck, Caroline; Germain, Dominique P.; Jabbour, Firas; Blanchet, Anne-Sophie; Cauchie, Alexandre; Sarrazin, Elisabeth; Bellance, Remi; Lefaucheur, Jean-Pascal; Bismuth, Julie; Ranque-Garnier, Stephanie; Corand, Virginie; Coupry, Isabelle; Goizet, Cyril
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err收藏
CAG repeat mosaicism is gene specific in spinocerebellar ataxiasCAG重复嵌合体在脊髓小脑性共济失调中具有基因特异性
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2024-05-01
err7
errOAAI
errKacher, Radhia; Lejeune, Francois-Xavier; David, Isabelle; Boluda, Susana; Coarelli, Giulia; Leclere-Turbant, Sabrina; Heinzmann, Anna; Marelli, Cecilia; Charles, Perrine; Goizet, Cyril; Kabir, Nisha; Hilab, Rania; Jornea, Ludmila; Six, Julie; Dommergues, Marc; Fauret, Anne-Laure; Brice, Alexis; Humbert, Sandrine; Durr, Alexandra
err分享
err收藏
Upstream open reading frame-introducing variants in patients with primary familial brain calcification
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2024-03-04
err2
errOAAI
errRovelet-Lecrux, Anne; Bonnevalle, Antoine; Quenez, Olivier; Delcroix, Wandrille; Cassinari, Kevin; Richard, Anne-Claire; Boland, Anne; Deleuze, Jean-Francois; Goizet, Cyril; Rucar, Alice; Verny, Christophe; Nguyen, Karine; Lecourtois, Magalie; Nicolas, Gael
err分享
err收藏
Heterozygous SPTLC1 p.Leu39del is a major cause of slow-progressing juvenile ALS
errJOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
IF7.5
err2023-11-24
err0
PREAI
errGuissart, Claire; de la Cruz, Elisa; Flabeau, Olivier; Grapperon, Aude-Marie; Corazza, Giovanni; Junilhon, Lucie; Delmas, Jean-Charles; Millecamps, Stephanie; Polge, Anne; Amador, Maria del Mar; Salachas, Francois; Rochat, Julie; Goizet, Cyril; Juntas Morales, Raul; Lumbroso, Serge; Philibert, Pascal; Cheillan, David; Mouzat, Kevin
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err收藏
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2023-10-23
err11
errOAAI
errHusson, Thomas; Lecoquierre, Francois; Nicolas, Gael; Richard, Anne-Claire; Afenjar, Alexandra; Audebert-Bellanger, Severine; Badens, Catherine; Bilan, Frederic; Bizaoui, Varoona; Boland, Anne; Bonnet-Dupeyron, Marie-Noelle; Brischoux-Boucher, Elise; Bonnet, Celine; Bournez, Marie; Boute, Odile; Brunelle, Perrine; Caumes, Roseline; Charles, Perrine; Chassaing, Nicolas; Chatron, Nicolas; Cogne, Benjamin; Colin, Estelle; Cormier-Daire, Valerie; Dard, Rodolphe; Dauriat, Benjamin; Delanne, Julian; Deleuze, Jean-Francois; Demurger, Florence; Denomme-Pichon, Anne-Sophie; Depienne, Christel; Dieux, Anne; Dubourg, Christele; Edery, Patrick; El Chehadeh, Salima; Faivre, Laurence; Fergelot, Patricia; Fradin, Melanie; Garde, Aurore; Genevieve, David; Gilbert-Dussardier, Brigitte; Goizet, Cyril; Goldenberg, Alice; Gouy, Evan; Guerrot, Anne-Marie; Guimier, Anne; Harzalla, Ines; Heron, Delphine; Isidor, Bertrand; Lacombe, Didier; Horn, Xavier Le Guillou; Keren, Boris; Kuechler, Alma; Lacaze, Elodie; Lavillaureix, Alinoe; Lehalle, Daphne; Lesca, Gaetan; Lespinasse, James; Levy, Jonathan; Lyonnet, Stanislas; Morel, Godelieve; Jean-Marcais, Nolwenn; Marlin, Sandrine; Marsili, Luisa; Mignot, Cyril; Nambot, Sophie; Nizon, Mathilde; Olaso, Robert; Pasquier, Laurent; Perrin, Laurine; Petit, Florence; Pingault, Veronique; Piton, Amelie; Prieur, Fabienne; Putoux, Audrey; Planes, Marc; Odent, Sylvie; Quelin, Chloe; Quemener-Redon, Sylvia; Rama, Melanie; Rio, Marlene; Rossi, Massimiliano; Schaefer, Elise; Rondeau, Sophie; Saugier-Veber, Pascale; Smol, Thomas; Sigaudy, Sabine; Touraine, Renaud; Mau-Them, Frederic Tran; Trimouille, Aurelien; Van Gils, Julien; Vanlerberghe, Clemence; Vantalon, Valerie; Vera, Gabriella; Vincent, Marie; Ziegler, Alban; Guillin, Olivier; Campion, Dominique; Charbonnier, Camille
err分享
err收藏
Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset Phenotypes
errMOVEMENT DISORDERS
IF7.6
err2023-08-21
err3
errOAAI
errAngelini, Chloe; Durand, Christelle Marie; Fergelot, Patricia; Deforges, Julie; Vital, Anne; Menegon, Patrice; Sarrazin, Elizabeth; Bellance, Remi; Mathis, Stephane; Gonzalez, Victoria; Renaud, Mathilde; Frismand, Solene; Schmitt, Emmanuelle; Rouanet, Marie; Burglen, Lydie; Chabrol, Brigitte; Desnous, Beatrice; Arveiler, Benoit; Stevanin, Giovanni; Coupry, Isabelle; Goizet, Cyril
err分享
err收藏
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias非扩张性脊髓小脑共济失调的极端表型异质性
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2023-07-01
err16
errOAAI
errCunha, Paulina; Petit, Emilien; Coutelier, Marie; Coarelli, Giulia; Mariotti, Caterina; Faber, Jennifer; Van Gaalen, Judith; Damasio, Joana; Fleszar, Zofia; Tosi, Michele; Rocca, Clarissa; De Michele, Giovanna; Minnerop, Martina; Ewenczyk, Claire; Santorelli, Filippo M.; Heinzmann, Anna; Bird, Thomas; Amprosi, Matthias; Indelicato, Elisabetta; Benussi, Alberto; Charles, Perrine; Stendel, Claudia; Romano, Silvia; Scarlato, Marina; Le Ber, Isabelle; Bassi, Maria Teresa; Serrano, Mercedes; Schmitz-Hubsch, Tanja; Doss, Sarah; Van Velzen, Gijs A. J.; Thomas, Quentin; Trabacca, Antonio; Ortigoza-Escobar, Juan Dario; D'Arrigo, Stefano; Timmann, Dagmar; Pantaleoni, Chiara; Martinuzzi, Andrea; Besse-Pinot, Elsa; Marsili, Luca; Cioffi, Ettore; Nicita, Francesco; Giorgetti, Alejandro; Moroni, Isabella; Romaniello, Romina; Casali, Carlo; Ponger, Penina; Casari, Giorgio; De Bot, Susanne T.; Ristori, Giovanni; Blumkin, Lubov; Borroni, Barbara; Goizet, Cyril; Marelli, Cecilia; Boesch, Sylvia; Anheim, Mathieu; Filla, Alessandro; Houlden, Henry; Bertini, Enrico; Klopstock, Thomas; Synofzik, Matthis; Riant, Florence; Zanni, Ginevra; Magri, Stefania; Di Bella, Daniela; Nanetti, Lorenzo; Sequeiros, Jorge; Oliveira, Jorge; Warrenburg, Bart Van de; Schoels, Ludger; Taroni, Franco; Brice, Alexis; Durr, Alexandra
err分享
err收藏
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C
errJOURNAL OF MEDICAL GENETICS
IF3.7
err2023-05-16
err3
errOAAI
errMirchi, Amytice; Guay, Simon-Pierre; Tran, Luan T.; Wolf, Nicole, I; Vanderver, Adeline; Brais, Bernard; Sylvain, Michel; Pohl, Daniela; Rossignol, Elsa; Saito, Michael; Moutton, Sebastien; Gonzalez-Gutierrez-Solana, Luis; Thiffault, Isabelle; Kruer, Michael C.; Moron, Dolores Gonzales; Kauffman, Marcelo; Goizet, Cyril; Sztriha, Laszlo; Glamuzina, Emma; Melancon, Serge B.; Naidu, Sakkubai; Retrouvey, Jean-Marc; Lacombe, Suzanne; Bernardino-Cuesta, Beatriz; De Bie, Isabelle; Bernard, Genevieve
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Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?TBP和STUB1的中间重复扩增: 脊髓小脑性共济失调中的遗传修饰还是纯的双基因遗传？
errGENETICS IN MEDICINE
IF6.2
err2023-02-01
err19
errOAAI
errBarbier, Mathieu; Davoine, Claire -Sophie; Petit, Emilien; Porch, Maximilien; Guillot-Noel, Lena; Sayah, Sabrina; Fauret, Anne-Laure; Neau, Jean-Philippe; Guyant-Marechal, Lucie; Deffond, Didier; Tranchant, Christine; Goizet, Cyril; Coarelli, Giulia; Castrioto, Anna; Klebe, Stephan; Ewenczyk, Claire; Heinzmann, Anna; Charles, Perrine; Tchikviladze, Maya; van Broeckhoven, Christine; Brice, Alexis; Durr, Alexandra
err分享
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研究方向

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合作学者
合作期刊
D
Daniel H. Geschwind
H 指数: 188 · 论文数: 968
A
Anthony E. Lang
H 指数: 166 · 论文数: 1.6K
A
Alexis Brice
H 指数: 153 · 论文数: 1.2K
G
Guy A. Rouleau
H 指数: 146 · 论文数: 1.3K
C
Christine Van Broeckhoven
H 指数: 141 · 论文数: 1.2K
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