Chen S, Ashton C, Sakalla R, Clement G, Planel S, Bonnet C, Lamont PJ, Kulanthaivelu K, Nalini A, Houlden H, Duquette A, Dicaire MJ, Iruzubieta Agudo P, Ruiz-Martinez J, Marco De Lucas E, Sutil Berjon R, Infante Ceberio J, Indelicato E, Boesch SM, Synofzik M, Bender B, Danzi MC, Zuchner S, Pellerin D, Brais B, Renaud M, La Piana R

Neurol Genet. 2025 04;11(2):e200253

Oculomotor findings in spinocerebellar ataxia 27B: a case series.

Clément G, Puisieux S, Ashton C, Pellerin D, Danzi MC, Bonnet C, Roth V, Wandzel M, Hocquel A, Pourié C, Dreumont N, Lambert L, Houlden H, Zuchner S, Brais B, Ben Rejeb I, Frismand S, Renaud M

Can J Neurol Sci. 2024 12 9;:1-6

Somatic instability of the FGF14-SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum.

Pellerin D, Méreaux JL, Boluda S, Danzi MC, Dicaire MJ, Davoine CS, Genis D, Spurdens G, Ashton C, Hammond JM, Gerhart BJ, Chelban V, Le PU, Safisamghabadi M, Yanick C, Lee H, Nageshwaran SK, Matos-Rodrigues G, Jaunmuktane Z, Petrecca K, Akbarian S, Nussenzweig A, Usdin K, Renaud M, Bonnet C, Ravenscroft G, Saporta MA, Napierala JS, Houlden H, Deveson IW, Napierala M, Brice A, Molina Porcel L, Seilhean D, Zuchner S, Durr A, Brais B

Brain. 2024 10 8;:

A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus.

Pellerin D, Del Gobbo GF, Couse M, Dolzhenko E, Nageshwaran SK, Cheung WA, Xu IRL, Dicaire MJ, Spurdens G, Matos-Rodrigues G, Stevanovski I, Scriba CK, Rebelo A, Roth V, Wandzel M, Bonnet C, Ashton C, Agarwal A, Peter C, Hasson D, Tsankova NM, Dewar K, Lamont PJ, Laing NG, Renaud M, Houlden H, Synofzik M, Usdin K, Nussenzweig A, Napierala M, Chen Z, Jiang H, Deveson IW, Ravenscroft G, Akbarian S, Eberle MA, Boycott KM, Pastinen T, ,Brais B, Zuchner S, Danzi MC

Nat Genet. 2024 06 27;:

Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients.

Thomas H, Alix T, Renard É, Renaud M, Wourms J, Zuily S, Leheup B, Geneviève D, Dreumont N, Schmitt E, Bronner M, Muller M, Divoux M, Wandzel M, Ravel JM, Dexheimer M, Becker A, Roth V, Willems M, Coubes C, Vieville G, Devillard F, Schaefer É, Baer S, Piton A, Gérard B, Vincent M, Nizon M, Cogné B, Ruaud L, Couque N, Putoux A, Edery P, Lesca G, Chatron N, Till M, Faivre L, Tran-Mau-Them F, Alessandri JL, Lebrun M, Quélin C, Odent S, Dubourg C, David V, Faoucher M, Mignot C, Keren B, Pisan É, Afenjar A, Julia S, Bieth É, Banneau G, Goldenberg A, Husson T, Campion D, Lecoquierre F, Nicolas G, Charbonnier C, De Saint Martin A, Naudion S, Degoutin M, Rondeau S, Michot C, Cormier-Daire V, Oussalah A, Pourié C, Lambert L, Bonnet C

J Med Genet. 2024 06 27;:

Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur-Chung neurodevelopmental syndrome.

Blanc A, Bonnet C, Wandzel M, Roth V, Duffourd Y, Safraou H, Leheup B, Muller F, D Colne J, Feillet F, Schmitt E, Castro M, Savatt J, Burcheri A, Nemos C, Philippe C, Lambert L

Am J Med Genet A. 2024 05 6;:e63642

Spinocerebellar ataxia 27B (SCA27B), a frequent late-onset cerebellar ataxia.

Clément G, Puisieux S, Pellerin D, Brais B, Bonnet C, Renaud M

Rev Neurol (Paris). 2024 04 11;:

Megalencephaly secondary to a novel germline missense variant p.Asp322Tyr in AKT3 associated with growth hormone deficiency and central hypothyroidism: A case report.

Renard E, Bonnet C, Di Patrizio M, Schmitt E, Madkaud AC, Chabot C, Kuchenbuch M, Lambert L

Am J Med Genet A. 2024 03 8;:e63585

Paroxysmal Ataxia: A Characteristic Feature of FGF14 Repeat Expansion (SCA27B).

Foucard C, Belley M, Sangare A, Bonnet C, Renaud M, Roze E

Neurol Genet. 2024 02;10(1):e200118

Does Spinocerebellar ataxia 27B mimic cerebellar multiple system atrophy?

Wirth T, Bonnet C, Delvallée C, Pellerin D, Bogdan T, Clément G, Schalk A, Chanson JB, Fleury MC, Piton A, Calmels N, Namer IJ, Kremer S, Brais B, Tranchant C, Renaud M, Anheim M

J Neurol. 2024 01 23;:

Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.

Méreaux JL, Davoine CS, Pellerin D, Coarelli G, Coutelier M, Ewenczyk C, Monin ML, Anheim M, Le Ber I, Thobois S, Gobert F, Guillot-Noël L, Forlani S, Jornea L, Heinzmann A, Sangare A, Gaymard B, Guyant-Maréchal L, Charles P, Marelli C, Honnorat J, Degos B, Tison F, Sangla S, Simonetta-Moreau M, Salachas F, Tchikviladzé M, Castelnovo G, Mochel F, Klebe S, Castrioto A, Fenu S, Méneret A, Bourdain F, Wandzel M, Roth V, Bonnet C, Riant F, Stevanin G, Noël S, Fauret-Amsellem AL, Bahlo M, Lockhart PJ, Brais B, Renaud M, Brice A, Durr A

EBioMedicine. 2023 12 26;99:104931

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.

Husson T, Lecoquierre F, Nicolas G, Richard AC, Afenjar A, Audebert-Bellanger S, Badens C, Bilan F, Bizaoui V, Boland A, Bonnet-Dupeyron MN, Brischoux-Boucher E, Bonnet C, Bournez M, Boute O, Brunelle P, Caumes R, Charles P, Chassaing N, Chatron N, Cogné B, Colin E, Cormier-Daire V, Dard R, Dauriat B, Delanne J, Deleuze JF, Demurger F, Denommé-Pichon AS, Depienne C, Dieux A, Dubourg C, Edery P, El Chehadeh S, Faivre L, Fergelot P, Fradin M, Garde A, Geneviève D, Gilbert-Dussardier B, Goizet C, Goldenberg A, Gouy E, Guerrot AM, Guimier A, Harzalla I, Héron D, Isidor B, Lacombe D, Le Guillou Horn X, Keren B, Kuechler A, Lacaze E, Lavillaureix A, Lehalle D, Lesca G, Lespinasse J, Levy J, Lyonnet S, Morel G, Jean-Marçais N, Marlin S, Marsili L, Mignot C, Nambot S, Nizon M, Olaso R, Pasquier L, Perrin L, Petit F, Pingault V, Piton A, Prieur F, Putoux A, Planes M, Odent S, Quélin C, Quemener-Redon S, Rama M, Rio M, Rossi M, Schaefer E, Rondeau S, Saugier-Veber P, Smol T, Sigaudy S, Touraine R, Mau-Them FT, Trimouille A, Van Gils J, Vanlerberghe C, Vantalon V, Vera G, Vincent M, Ziegler A, Guillin O, Campion D, Charbonnier C

Eur J Hum Genet. 2023 10 23;:

MAST1-related mega-corpus-callosum syndrome with central hypogonadism.

Sloboda N, Renard E, Lambert L, Bonnet C, Leheup B, Todosi C, Schmitt E, Feillet F, Feigerlova E, Piton A, Journeau P, Klein M, Maillard L, Chelly J, Renaud M

Eur J Med Genet. 2023 09 25;:104853

Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patients.

Ashton C, Indelicato E, Pellerin D, Clément G, Danzi MC, Dicaire MJ, Bonnet C, Houlden H, Züchner S, Synofzik M, Lamont PJ, Renaud M, Boesch S, Brais B

Brain Commun. 2023 09 10;5(5):fcad239

Natural History and Phenotypic Spectrum of GAA-FGF14 Sporadic Late-Onset Cerebellar Ataxia (SCA27B).

Wirth T, Clément G, Delvallée C, Bonnet C, Bogdan T, Iosif A, Schalk A, Chanson JB, Pellerin D, Brais B, Roth V, Wandzel M, Fleury MC, Piton A, Calmels N, Namer IJ, Kremer S, Tranchant C, Renaud M, Anheim M

Mov Disord. 2023 07 20;:

Scale-Up of Academic Mesenchymal Stromal Cell Production.

Laroye C, Gauthier M, Morello J, Charif N, Cannard VL, Bonnet C, Lozniewski A, Tchirkov A, De Isla N, Decot V, Reppel L, Bensoussan D

J Clin Med. 2023 06 30;12(13):

ENPP1 homozygous stop-loss variant causing generalized arterial cal cifications of infancy: About a severe neonatal clinical case.

Grosyeux C, Jourdan L, Jellimann JM, Grandmougin A, Bronner M, Lambert L, Bonnet C

Eur J Med Genet. 2023 06 26;:104803

Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B.

Bonnet C, Pellerin D, Roth V, Clément G, Wandzel M, Lambert L, Frismand S, Douarinou M, Grosset A, Bekkour I, Weber F, Girardier F, Robin C, Cacciatore S, Bronner M, Pourié C, Dreumont N, Puisieux S, Iruzubieta P, Dicaire MJ, Evoy F, Rioux MF, Hocquel A, La Piana R, Synofzik M, Houlden H, Danzi MC, Zuchner S, Brais B, Renaud M

Sci Rep. 2023 06 15;13(1):9737

Clinical utility of periodic reinterpretation of CNVs of uncertain significance: an 8-year retrospective study.

Ravel JM, Renaud M, Muller J, Becker A, Renard É, Remen T, Lefort G, Dexheimer M, Jonveaux P, Leheup B, Bonnet C, Lambert L

Genome Med. 2023 05 23;15(1):39

Unraveling the Missing Heritability in Late-Onset Cerebellar Ataxia.

Bonnet C

Mov Disord. 2023 05 8;:

Heterozygous pathogenic variation in GCH1 associated with treatable severe spastic tetraplegia.

Ravel JM, Michaud M, Frismand S, Puisieux S, Banneau G, Benoist JF, Lambert L, Bonnet C, Renaud M

Parkinsonism Relat Disord. 2023 02 4;:105310

Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: report of three families.

Becker A, Felici C, Lambert L, de Saint Martin A, Abi-Warde MT, Schaefer E, Zix C, Zamani M, Sadeghian S, Zeighami J, Seifi T, Azizimalamiri R, Shariati G, Galehdari H, Selig M, Ding C, Duerinckx S, Pirson I, Abramowicz M, Clément G, Leheup B, Jonveaux P, Lefort G, Bronner M, Renaud M, Bonnet C

Clin Genet. 2022 11 13;:

Microdeletions at 19p13.11p12 in five individuals with neurodevelopmental delay.

Rieger M, Moutton S, Verheyen S, Steindl K, Popp B, Leheup B, Bonnet C, Oneda B, Rauch A, Reis A, Krumbiegel M, Hüffmeier U

Eur J Med Genet. 2022 11 12;:104669

Genetic studies in isolated bilateral clubfoot detected by prenatal ultrasound.

Dap M, Harter H, Lambert L, Perdriolle-Galet E, Bonnet C, Morel O

J Matern Fetal Neonatal Med. 2022 09 27;:1-4

First report of a short in-frame biallelic deletion removing part of the EGF-like domain calcium-binding motif in LTBP4 and causing autosomal recessive cutis laxa type 1C.

Ravel JM, Comel M, Wandzel M, Bronner M, Tatopoulos A, Renaud M, Lambert L, Bursztejn AC, Bonnet C

Am J Med Genet A. 2022 08 16;:

Next-generation sequencing: a decisive diagnostic aid for atypical Wilson's disease.

Jardel A, Bonnet C, Frismand-Kryloff S, Ravel JM, Schmitt E, Obadia MA, Delassaux S, Bronner M, Poujois A, Renaud M

J Neurol. 2022 07 21;:

Reduced penetrance of an eastern French mutation in ATL1 autosomal-dominant inheritance (SPG3A): extended phenotypic spectrum coupled with brain F-FDG PET.

Hocquel A, Ravel JM, Lambert L, Bonnet C, Banneau G, Kol B, Tissier L, Hopes L, Meyer M, Dillier C, Michaud M, Lardin A, Kaminsky AL, Schmitt E, Liao L, Zhu F, Myriam B, Bossenmeyer-Pourié C, Verger A, Renaud M

Neurogenetics. 2022 07 5;:

Regionally defined proteomic profiles of human cerebral tissue and organoids reveal conserved molecular modules of neurodevelopment.

Melliou S, Sangster KT, Kao J, Zarrei M, Lam KHB, Howe J, Papaioannou MD, Tsang QPL, Borhani OA, Sajid RS, Bonnet C, Leheup B, Shannon P, Scherer SW, Stavropoulos DJ, Djuric U, Diamandis P

Cell Rep. 2022 05 24;39(8):110846

uORF-introducing variants in the 5'UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome.

Coursimault J, Rovelet-Lecrux A, Cassinari K, Brischoux-Boucher E, Saugier-Veber P, Goldenberg A, Lecoquierre F, Drouot N, Richard AC, Vera G, Coutant S, Quenez O, Rolain M, Bonnet C, Bronner M, Lecourtois M, Nicolas G

Hum Mutat. 2022 Apr 21;:

Utility of chromosomal microarray analysis for the exploration of isolated and severe fetal growth restriction diagnosed before 24 weeks' gestation.

Dap M, Gicquel F, Lambert L, Perdriolle-Galet E, Bonnet C, Morel O

Prenat Diagn. 2022 Apr 15;:

Atypical phenotype of a patient with Bardet-Biedl syndrome type 4.

Sloboda N, Lambert L, Ciorna V, Bruel AL, Tran Mau-Them F, Gomola V, Lemelle JL, Klein O, Camoin-Schweitzer MC, Magnavacca M, Legagneur C, Ezsto ML, Bonnet C, Philippe C, Leheup B

Mol Genet Genomic Med. 2022 Mar 23;:e1869

Is Cell-free fetal DNA testing a safe option for women in a high-risk population after combined first-trimester testing?

Dap M, Caffin L, Perdriolle-Galet E, Bonnet C, Morel O

J Gynecol Obstet Hum Reprod. 2022 Jan 31;:102329

Positron Emission Tomography-Driven Strategy in Advanced Hodgkin Lymphoma: Prolonged Follow-Up of the AHL2011 Phase III Lymphoma Study Association Study.

Casasnovas RO, Bouabdallah R, Brice P, Lazarovici J, Ghesquieres H, Stamatoullas A, Dupuis J, Gac AC, Gastinne T, Joly B, Bouabdallah K, Nicolas-Virelizier E, Feugier P, Morschhauser F, Sibon D, Bonnet C, Berriolo-Riedinger A, Edeline V, Parrens M, Damotte D, Coso D, André M, Meignan M, Rossi C

J Clin Oncol. 2022 Jan 6;:JCO2101777

[Systematic karyotyping before ICSI: a necessary procedure? Analysis of case studies in the Nancy University Hospital Fertility Centre].

Amat L, Morel O, Diligent C, Bonnet C, Agopiantz M

Gynecol Obstet Fertil Senol. 2022 Jan 3;:

MAN1B1-CDG: Three new individuals and associated biochemical profiles.

Sakhi S, Cholet S, Wehbi S, Isidor B, Cogne B, Vuillaumier-Barrot S, Dupré T, Detleft T, Schmitt E, Leheup B, Bonnet C, Feillet F, Muti C, Fenaille F, Bruneel A

Mol Genet Metab Rep. 2021 Sep;28:100775

5' Region Large Genomic Rearrangements in the Gene in French Families: Identification of a Tandem Triplication and Nine Distinct Deletions with Five Recurrent Breakpoints.

Caputo SM, Telly D, Briaux A, Sesen J, Ceppi M, Bonnet F, Bourdon V, Coulet F, Castera L, Delnatte C, Hardouin A, Mazoyer S, Schultz I, Sevenet N, Uhrhammer N, Bonnet C, Tilkin-Mariamé AF, Houdayer C, Moncoutier V, Andrieu C, French Covar Group Collaborators,Bièche I, Stern MH, Stoppa-Lyonnet D, Lidereau R, Toulas C, Rouleau E

Cancers (Basel). 2021 Jun 25;13(13):

Fertility in McCune Albright syndrome female: A case study focusing on AMH as a marker of ovarian dysfunction and a literature review.

Agopiantz M, Sorlin A, Vabres P, Leheup B, Carmignac V, Malaplate-Armand C, Diligent C, Bonnet C, Gauchotte G

J Gynecol Obstet Hum Reprod. 2021 May 25;50(9):102171

Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia.

Ravel JM, Benkirane M, Calmels N, Marelli C, Ory-Magne F, Ewenczyk C, Halleb Y, Tison F, Lecocq C, Pische G, Casenave P, Chaussenot A, Frismand S, Tyvaert L, Larrieu L, Pointaux M, Drouot N, Bossenmeyer-Pourié C, Oussalah A, Guéant JL, Leheup B, Bonnet C, Anheim M, Tranchant C, Lambert L, Chelly J, Koenig M, Renaud M

J Neurol. 2021 Jan 8;:

Evaluation of 3 molecular-based assays for microsatellite instability detection in formalin-fixed tissues of patients with endometrial and colorectal cancers.

Gilson P, Levy J, Rouyer M, Demange J, Husson M, Bonnet C, Salleron J, Leroux A, Merlin JL, Harlé A

. 2020 Oct 2;10(1):16386

Toxicity of TiO Nanoparticles: Validation of Alternative Models.

Leroux MM, Doumandji Z, Chézeau L, Gaté L, Nahle S, Hocquel R, Zhernovkov V, Migot S, Ghanbaja J, Bonnet C, Schneider R, Rihn BH, Ferrari L, Joubert O

Int J Mol Sci. 2020 Jul 9;21(14):

Pathogenic variants in cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD.

Granadillo JL, P A Stegmann A, Guo H, Xia K, Angle B, Bontempo K, Ranells JD, Newkirk P, Costin C, Viront J, Stumpel CT, Sinnema M, Panis B, Pfundt R, Krapels IPC, Klaassens M, Nicolai J, Li J, Jiang Y, Marco E, Canton A, Latronico AC, Montenegro L, Leheup B, Bonnet C, M Amudhavalli S, Lawson CE, McWalter K, Telegrafi A, Pearson R, Kvarnung M, Wang X, Bi W, Rosenfeld JA, Shinawi M

J. Med. Genet.. 2020 Mar 9;:

Wearing prisms to hear differently: After-effects of prism adaptation on auditory perception.

Michel C, Bonnet C, Podor B, Bard P, Poulin-Charronnat B

Cortex. 2019 06;115:123-132

Deletion of chr7p22 and chr15q11: Two Familial Cases of Immune Deficiency: Extending the Phenotype Toward Dysimmunity.

Sloboda N, Sorlin A, Valduga M, Beri-Dexheimer M, Bilbault C, Fouyssac F, Becker A, Lambert L, Bonnet C, Leheup B

Front Immunol. 2019 ;10:1871

Performance of Semiconductor sequencing platform for non-invasive prenatal genetic screening for fetal aneuploidies: results from a multicenter prospective cohort study in a clinical setting.

El Khattabi LA, Brun S, Gueguen P, Chatron N, Guichoux E, Schutz S, Nectoux J, Sorlin A, Quere M, Boudjarane J, Tsatsaris V, Mandelbrot L, Schluth-Bolard C, Dupont JM, Rooryck C, ,Cormier A, Duboc V, Pipoli JDF, Bonnet C, Lagarde A, Letourneur F, Jonveaux P, Bardel C, Paquis-Fluckinger V, Bannwarth S, Arveiler B, Badens C, Levy N, Goossens M, Vidaud M, Massardier J, Boureau-Wirth A, Saliou AH, Lacombe D, Sanlaville D, Ferec C

Ultrasound Obstet Gynecol. 2018 Sep 6;:

Successful haematopoietic stem cell transplantation in a case of pulmonary alveolar proteinosis due to GM-CSF receptor deficiency.

Frémond ML, Hadchouel A, Schweitzer C, Berteloot L, Bruneau J, Bonnet C, Cros G, Briand C, Magnani A, Pochon C, Delacourt C, Cavazzana M, Moshous D, Fischer A, Blanche S, Blic J, Neven B

Thorax. 2017 Dec 20;:

Expression of neurotensin receptor 1 in endometrial adenocarcinoma is correlated with histological grade and clinical outcome.

Agopiantz M, Forgez P, Casse JM, Lacomme S, Charra-Brunaud C, Clerc-Urmès I, Morel O, Bonnet C, Guéant JL, Vignaud JM, Gompel A, Gauchotte G

Virchows Arch.. 2017 Aug;:

Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion.

Chatron N, Haddad V, Andrieux J, Désir J, Boute O, Dieux A, Baumann C, Drunat S, Gérard M, Bonnet C, Leheup B, Till M, Rossi M, Flori E, Alembik Y, Stewart H, McParland J, Bernardini L, Castelluccio P, Roos L, Tümer Z, Fagan K, Hackett A, Bain N, van Haeringen A, Ruivenkamp C, Benzacken B, Sanlaville D, Edery P, Aboura A, Schluth-Bolard C

Am J Med Genet A. 2015 05;167A(5):1008-17