Team 3: Genomics for Brain Disorders – Cancer and Brain Genomics (CBG)

Team leader : Pr. Gaël Nicolas

Research Activites

Publications

Members

Contacts

Our Supports

Research activities

The Genomics for Brain Disorders (GBD) team aims to identify the genetic determinism and molecular bases of neurogenetic diseases. The main research topics are: Alzheimer’s disease and related disorders (Cerebral Amyloid Angiopathy, Tauopathies, other dementias), Primary Familial Brain Calcifications (PFBC), and neurodevelopmental disorders. The team is closely linked to the Rouen University Hospital (CHU), the Rouvray Psychiatric Hospital Center, and national and international networks of collaborators. The team applies large-scale exome and genome sequencing strategies in multiple study models (case-control studies, trios, etc.) using patient samples, and assesses the consequences of disease-related genetic variants at the molecular, cellular, and human phenotype levels, as well as the individual genetic risk associated with the complex forms of these disorders.

The team is multidisciplinary, gathering researchers, engineers, and technicians expert in genomics, modern cell biology, genome editing, bioinformatics, and biostatistics, as well as physicians and physician-researchers expert in neurological, psychiatric, pediatric, and genetic diseases.

The bioinformatics-biostatistics group within the team is responsible for the methodological developments necessary for implementing state-of-the-art analysis tools and developing innovative analysis strategies.
The cell biology group is in charge of studying the pathophysiological mechanisms, with a viewpoint specifically enhanced by the genetic variants identified in patients, using state-of-the-art advanced functional genomics technologies: induced pluripotent stem cells (iPSCs), genomic editing (CRISPR/Cas9), including their differentiation into cell types of choice, in 2D or 3D (organoids). The team also possesses the tools and expertise for modelling brain diseases in the Drosophila model.

The different professionals work in close interaction, from patients to the bench and vice-versa, in an integrated and multidisciplinary vision of research..

The team benefits from a national recruitment for most of the studied diseases. For example, it is affiliated with the National Reference Center for Young Alzheimer Disease at the Rouen University Hospital, which is in charge of genetic diagnosis and research for Young Alzheimer patients across the national territory, and it co-leads the European consortium ADES (Alzheimer Disease European Sequencing). The team is also affiliated with the Molecular Genetics Laboratory of the Rouen University Hospital, which is recognized as a Reference Medical Biology Laboratory for several pathologies of interest, including Primary Familial Brain Calcifications and Intellectual Disabilities, Cornelia de Lange Syndrome and Congenital Hydrocephalus, and it works in direct connection with the clinical Rare Disease Reference Center (CRMR) for Developmental Anomalies and Malformative Syndromes ADNO and the CRMR for Neurogenetic Diseases of the Central Nervous System NEUROGENE, both constitutive CRMRs at the Rouen University Hospital and working within a national network, themselves being embedded into European reference networks.

Team members are highly involved in disseminating knowledge nationally and internationally, both to the general public and to professionals and learners with various degrees of expertise, through local, national, and international teaching and review lectures.

Flagship publications

Genetics of Alzheimer’s Disease and Cerebral Amyloid Angiopathy, Identification of Moderate-to-Strong Effect Risk Factor Genes by Case-Control Exome Analysis, Clinical Classification of Risk Factor Variations, and Estimation of their Penetrance

Nicolas G, Zaréa A, Lacour M, Quenez O, Rousseau S, Richard AC, Bonnevalle A, Schramm C, Olaso R, Sandron F, Boland A, Deleuze JF, Andriuta D, Anthony P, Auria-combe S, Balageas AC, Ballan G, Barbay M, Béjot Y, Belliard S, Benaiteau M, Bennys K, Bombois S, Boutoleau-Bretonnière C, Branger P, Carlier J, Cartz-Piver L, Cassagnaud P, Cec-caldi MP, Chauviré V, Chen Y, Cogez J, Cognat E, Contegal-Callier F, Corneille L, Couratier P, Cretin B, Crinquette C, Dauriat B, Dautricourt S, de la Sayette V, de Liège A, Deffond D, Demurger F, Deramecourt V, Derollez C, Dionet E, Doco Fenzy M, Dumurgier J, Dutray A, Etcharry-Bouyx F, Formaglio M, Gabelle A, Gainche-Salmon A, Godefroy O, Graber M, Gregoire C, Grimaldi S, Gueniat J, Gueriot C, Guillet-Pichon V, Haffen S, Hanta CR, Hardy C, Hautecloque G, Heitz C, Hourregue C, Jonveaux T, Jurici S, Koric L, Krolak-Salmon P, Lagarde J, Lanoiselée HM, Laurens B, Le Ber I, Le Guyader G, Leblanc A, Lebouvier T, Le-vy R, Lippi A, Mackowiak MA, Magnin E, Marelli C, Martinaud O, Maureille A, Migliaccio R, Milongo-Rigal E, Mohr S, Mollion H, Morin A, Nivelle J, Noiray C, Olivieri P, Paquet C, Pariente J, Pasquier F, Perron A, Philippi N, Planche V, Pouclet-Courtemanche H, Rafiq M, Rollin-Sillaire A, Roué-Jagot C, Saracino D, Sarazin M, Sauvée M, Sellal F, Teichmann M, Thauvin C, Thomas Q, Tisserand C, Turpinat C, Van Damme L, Vercruysse O, Villain N, Wa-gemann N, Charbonnier C, Wallon D. Assessment of Mendelian and risk-factor genes in Alzheimer disease: A prospective nationwide clinical utility study and recommendations for genetic screening. Genet Med. 2024 May;26(5):101082. doi: 10.1016/j.gim.2024.101082. Epub 2024 Jan 24. PMID: 38281098.

Holstege* H, Hulsman* M, Charbonnier* C, Grenier-Boley B, Quenez O, Grozeva D, van Rooij JGJ, Sims R, Ahmad S, Amin N, Norsworthy PJ, Dols-Icardo O, Hummerich H, Kawa-lia A, Amouyel P, Beecham GW, Berr C, Bis JC, Boland A, Bossù P, Bouwman F, Bras J, Campion D, Cochran JN, Daniele A, Dartigues JF, Debette S, Deleuze JF, Denning N, DeStefano AL, Farrer LA, Fernández MV, Fox NC, Galimberti D, Genin E, Gille JJP, Le Guen Y, Guerreiro R, Haines JL, Holmes C, Ikram MA, Ikram MK, Jansen IE, Kraaij R, La-throp M, Lemstra AW, Lleó A, Luckcuck L, Mannens MMAM, Marshall R, Martin ER, Ma-sullo C, Mayeux R, Mecocci P, Meggy A, Mol MO, Morgan K, Myers RM, Nacmias B, Naj AC, Napolioni V, Pasquier F, Pastor P, Pericak-Vance MA, Raybould R, Redon R, Reinders MJT, Richard AC, Riedel-Heller SG, Rivadeneira F, Rousseau S, Ryan NS, Saad S, Sanchez-Juan P, Schellenberg GD, Scheltens P, Schott JM, Seripa D, Seshadri S, Sie D, Sistermans EA, Sorbi S, van Spaendonk R, Spalletta G, Tesi N, Tijms B, Uitterlinden AG, van der Lee SJ, Visser PJ, Wagner M, Wallon D, Wang LS, Zarea A, Clarimon J, van Swieten JC, Greicius MD, Yokoyama JS, Cruchaga C, Hardy J, Ramirez A, Mead S, van der Flier WM, van Duijn CM, Williams J, Nicolas** G, Bellenguez** C, Lambert** JC. Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s dis-ease. Nat Genet. 2022 Dec;54(12):1786-1794. doi: 10.1038/s41588-022-01208-7. Epub 2022 Nov 21. PMID: 36411364; PMCID: PMC9729101.
*cofirst, **colast

Schramm C, Charbonnier C, Zaréa A, Lacour M, Wallon D; CNRMAJ collaborators; Bo-land A, Deleuze JF, Olaso R; ADES consortium; Alarcon F, Campion D, Nuel G, Nicolas G. Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes. Genome Med. 2022 Jun 28;14(1):69. doi: 10.1186/s13073-022-01070-6..

Campion D, Charbonnier C, Nicolas G. SORL1 genetic variants and Alzheimer disease risk: a literature review and meta-analysis of sequencing data. Acta Neuropathol. 2019 Aug;138(2):173-186. doi: 10.1007/s00401-019-01991-4. Epub 2019 Mar 25. PMID: 30911827.

Nicolas G, Charbonnier C, Wallon D, Quenez O, Bellenguez C, Grenier-Boley B, Rousseau S, Richard AC, Rovelet-Lecrux A, Le Guennec K, Bacq D, Garnier JG, Olaso R, Boland A, Meyer V, Deleuze JF, Amouyel P, Munter HM, Bourque G, Lathrop M, Frebourg T, Redon R, Letenneur L, Dartigues JF, Génin E, Lambert JC, Hannequin D, Campion D; CNR-MAJ collaborators. SORL1 rare variants: a major risk factor for familial early-onset Alzheimer’s disease. Mol Psychiatry. 2016 Jun;21(6):831-6. doi: 10.1038/mp.2015.121. Epub 2015 Aug 25. PMID: 26303663.

Grangeon L, Charbonnier C, Zarea A, Rousseau S, Rovelet-Lecrux A, Bendetowicz D, Lemaitre M, Malrain C, Quillard-Muraine M, Cassinari K, Maltete D, Pariente J, Moreaud O, Magnin E, Cretin B, Mackowiak MA, Sillaire AR, Vercelletto M, Dionet E, Felician O, Rod-Olivieri P, Thomas-Antérion C, Godeneche G, Sauvée M, Cartz-Piver L, Le Ber I, Chauvire V, Jonveaux T, Balageas AC, Laquerriere A, Duyckaerts C, Vital A, de Paula AM, Meyronet D, Guyant-Marechal L, Hannequin D, Tournier-Lasserve E, Campion D; CNR-MAJ collabo-rators; Nicolas G, Wallon D. Phenotype and imaging features associated with APP duplications. Alzheimers Res Ther. 2023 May 11;15(1):93. doi: 10.1186/s13195-023-01172-2. PMID: 37170141; PMCID: PMC10173644.

Grangeon L, Cassinari K, Rousseau S, Croisile B, Formaglio M, Moreaud O, Boutonnat J, Le Meur N, Miné M, Coste T, Pipiras E, Tournier-Lasserve E, Rovelet-Lecrux A, Campion D, Wallon D, Nicolas G. Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus Triplication. Neurol Genet. 2021 Sep 8;7(5):e609. doi: 10.1212/NXG.0000000000000609. PMID: 34532568; PMCID: PMC8439959.

Functional Characterization of the Molecular Bases of Alzheimer’s Disease or Related Disorders in Cellular or Drosophila Models

Rovelet-Lecrux A, Feuillette S, Miguel L, Schramm C, Pernet S, Quenez O, Ségalas-Milazzo I, Guilhaudis L, Rousseau S, Riou G, Frébourg T, Campion D, Nicolas G, Lecourtois M. Impaired SorLA maturation and trafficking as a new mechanism for SORL1 missense variants in Alzheimer disease. Acta Neuropathol Commun. 2021 Dec 18;9(1):196. doi: 10.1186/s40478-021-01294-4. PMID: 34922638; PMCID: PMC8684260.

Miguel L, Frebourg T, Campion D, Lecourtois M. Moderate Overexpression of Tau in Dro-sophila Exacerbates Amyloid-β-Induced Neuronal Phenotypes and Correlates with Tau Oli-gomerization. J Alzheimers Dis. 2020;74(2):637-647. doi: 10.3233/JAD-190906. PMID: 32065789.

Miguel L, Rovelet-Lecrux A, Feyeux M, Frebourg T, Nassoy P, Campion D, Lecourtois M. Detection of all adult Tau isoforms in a 3D culture model of iPSC-derived neurons. Stem Cell Res. 2019 Oct;40:101541. doi: 10.1016/j.scr.2019.101541. Epub 2019 Aug 23. PMID: 31522011.

Miguel L, Gervais J, Nicolas G, Lecourtois M. SorLA Protective Function Is Restored by Improving SorLA Protein Maturation in a Subset of Alzheimer’s Disease-Associated SORL1 Missense Variants. J Alzheimers Dis. 2023;94(4):1343-1349. doi: 10.3233/JAD-230211. PMID: 37424467.

Feuillette S, Charbonnier C, Frebourg T, Campion D, Lecourtois M. A Connected Net-work of Interacting Proteins Is Involved in Human-Tau Toxicity in Drosophila. Front Neuro-sci. 2020 Feb 11;14:68. doi: 10.3389/fnins.2020.00068. PMID: 32116515; PMCID: PMC7026268.

Miguel L, Frebourg T, Campion D, Lecourtois M. Moderate Overexpression of Tau in Dro-sophila Exacerbates Amyloid-β-Induced Neuronal Phenotypes and Correlates with Tau Oli-gomerization. J Alzheimers Dis. 2020;74(2):637-647. doi: 10.3233/JAD-190906. PMID: 32065789.

Identification of a New Strong Genetic Determinant of Tauopathy with Pleiotropic Expression

Wallon D, Boluda S, Rovelet-Lecrux A, Thierry M, Lagarde J, Miguel L, Lecourtois M, Bonnevalle A, Sarazin M, Bottlaender M, Mula M, Marty S, Nakamura N, Schramm C, Sel-lal F, Jonveaux T, Heitz C, Le Ber I, Epelbaum S, Magnin E, Zarea A, Rousseau S, Quenez O, Hannequin D, Clavaguera F, Campion D, Duyckaerts C, Nicolas G. Clinical and neuro-pathological diversity of tauopathy in MAPT duplication carriers. Acta Neuropathol. 2021 Aug;142(2):259-278. doi: 10.1007/s00401-021-02320-4. Epub 2021 Jun 6. PMID: 34095977.

Le Guennec K, Quenez O, Nicolas G, Wallon D, Rousseau S, Richard AC, Alexander J, Paschou P, Charbonnier C, Bellenguez C, Grenier-Boley B, Lechner D, Bihoreau MT, Olaso R, Boland A, Meyer V, Deleuze JF, Amouyel P, Munter HM, Bourque G, Lathrop M, Frebourg T, Redon R, Letenneur L, Dartigues JF, Martinaud O, Kalev O, Mehrabian S, Traykov L, Ströbel T, Le Ber I, Caroppo P, Epelbaum S, Jonveaux T, Pasquier F, Rollin-Sillaire A, Gé-nin E, Guyant-Maréchal L, Kovacs GG, Lambert JC, Hannequin D, Campion D, Rovelet-Lecrux A. 17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression. Mol Psychiatry. 2017 Aug;22(8):1119-1125. doi: 10.1038/mp.2016.226. Epub 2016 Dec 13. PMID: 27956742.

Miguel L, Rovelet-Lecrux A, Chambon P, Joly-Helas G, Rousseau S, Wallon D, Epel-baum S, Frebourg T, Campion D, Nicolas G, Lecourtois M. Generation of 17q21.31 duplica-tion iPSC-derived neurons as a model for primary tauopathies. Stem Cell Res. 2022 May;61:102762. doi: 10.1016/j.scr.2022.102762. Epub 2022 Mar 22. PMID: 35358831.

Identification or Contribution to the Identification of 4 of the 7 Genes for Primary Familial Brain Calcifications and Description of the Phenotype

Chelban V, Aksnes H, Maroofian R, LaMonica LC, Seabra L, Siggervåg A, Devic P, Shamseldin HE, Vandrovcova J, Murphy D, Richard AC, Quenez O, Bonnevalle A, Zanetti MN, Kaiyrzhanov R, Salpietro V, Efthymiou S, Schottlaender LV, Morsy H, Scardamaglia A, Tariq A, Pagnamenta AT, Pennavaria A, Krogstad LS, Bekkelund ÅK, Caiella A, Glomnes N, Brønstad KM, Tury S, Moreno De Luca A, Boland-Auge A, Olaso R, Deleuze JF, Anheim M, Cretin B, Vona B, Alajlan F, Abdulwahab F, Battini JL, İpek R, Bauer P, Zifarelli G, Gungor S, Kurul SH, Lochmuller H, Da’as SI, Fakhro KA, Gómez-Pascual A, Botía JA, Wood NW, Horvath R, Ernst AM, Rothman JE, McEntagart M, Crow YJ, Alkuraya FS, Nicolas G; SY-NaPS Study Group; Arnesen T, Houlden H. Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications. Nat Commun. 2024 Mar 13;15(1):2269. doi: 10.1038/s41467-024-46354-0. PMID: 38480682; PMCID: PMC10937998.

Grangeon L, Wallon D, Charbonnier C, Quenez O, Richard AC, Rousseau S, Budowski C, Lebouvier T, Corbille AG, Vidailhet M, Méneret A, Roze E, Anheim M, Tranchant C, Fa-vrole P, Antoine JC, Defebvre L, Ayrignac X, Labauge P, Pariente J, Clanet M, Maltête D, Rovelet-Lecrux A, Boland A, Deleuze JF; French PFBC study group; Frebourg T, Hannequin D, Campion D, Nicolas G. Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype. Brain. 2019 Jun 1;142(6):1573-1586. doi: 10.1093/brain/awz095. PMID: 31009047.

Legati A, Giovannini D, Nicolas G, López-Sánchez U, Quintáns B, Oliveira JR, Sears RL, Ramos EM, Spiteri E, Sobrido MJ, Carracedo Á, Castro-Fernández C, Cubizolle S, Fogel BL, Goizet C, Jen JC, Kirdlarp S, Lang AE, Miedzybrodzka Z, Mitarnun W, Paucar M, Paulson H, Pariente J, Richard AC, Salins NS, Simpson SA, Striano P, Svenningsson P, Tison F, Unni VK, Vanakker O, Wessels MW, Wetchaphanphesat S, Yang M, Boller F, Campion D, Hannequin D, Sitbon M, Geschwind DH, Battini JL, Coppola G. Mutations in XPR1 cause pri-mary familial brain calcification associated with altered phosphate export. Nat Genet. 2015 Jun;47(6):579-81. doi: 10.1038/ng.3289. Epub 2015 May 4. PMID: 25938945; PMCID: PMC4516721.

Nicolas G, Pottier C, Charbonnier C, Guyant-Maréchal L, Le Ber I, Pariente J, Labauge P, Ayrignac X, Defebvre L, Maltête D, Martinaud O, Lefaucheur R, Guillin O, Wallon D, Chaumette B, Rondepierre P, Derache N, Fromager G, Schaeffer S, Krystkowiak P, Verny C, Jurici S, Sauvée M, Vérin M, Lebouvier T, Rouaud O, Thauvin-Robinet C, Rousseau S, Rovelet-Lecrux A, Frebourg T, Campion D, Hannequin D; French IBGC Study Group. Pheno-typic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification. Brain. 2013 Nov;136(Pt 11):3395-407. doi: 10.1093/brain/awt255. Epub 2013 Sep 24. PMID: 24065723.

Keller A, Westenberger A, Sobrido MJ, García-Murias M, Domingo A, Sears RL, Lemos RR, Ordoñez-Ugalde A, Nicolas G, da Cunha JE, Rushing EJ, Hugelshofer M, Wurnig MC, Kaech A, Reimann R, Lohmann K, Dobričić V, Carracedo A, Petrović I, Miyasaki JM, Aba-kumova I, Mäe MA, Raschperger E, Zatz M, Zschiedrich K, Klepper J, Spiteri E, Prieto JM, Navas I, Preuss M, Dering C, Janković M, Paucar M, Svenningsson P, Saliminejad K, Khorshid HR, Novaković I, Aguzzi A, Boss A, Le Ber I, Defer G, Hannequin D, Kostić VS, Campion D, Geschwind DH, Coppola G, Betsholtz C, Klein C, Oliveira JR. Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice. Nat Genet. 2013 Sep;45(9):1077-82. doi: 10.1038/ng.2723. Epub 2013 Aug 4. PMID: 23913003.

Nicolas G, Pottier C, Maltête D, Coutant S, Rovelet-Lecrux A, Legallic S, Rousseau S, Vaschalde Y, Guyant-Maréchal L, Augustin J, Martinaud O, Defebvre L, Krystkowiak P, Pariente J, Clanet M, Labauge P, Ayrignac X, Lefaucheur R, Le Ber I, Frebourg T, Hannequin D, Campion D. Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification. Neurology. 2013 Jan 8;80(2):181-7. doi: 10.1212/WNL.0b013e31827ccf34. Epub 2012 Dec 19. PMID: 23255827.

Characterization of Non-Coding Variants in Rare Diseases, Example of Brain Calcifications and Cornelia de Lange Syndrome

Rovelet-Lecrux A, Bonnevalle A, Quenez O, Delcroix W, Cassinari K, Richard AC, Boland A, Deleuze JF, Goizet C, Rucar A, Verny C, Nguyen K, Lecourtois M, Nicolas G. Up-stream open reading frame-introducing variants in patients with primary familial brain calcifi-cation. Eur J Hum Genet. 2024 Mar 4. doi: 10.1038/s41431-024-01580-4. Epub ahead of print. PMID: 38433263.

Cassinari K, Rovelet-Lecrux A, Tury S, Quenez O, Richard AC, Charbonnier C, Olaso R, Boland A, Deleuze JF, Besancenot JF, Delpont B, Pouliquen D, Lecoquierre F, Chambon P, Thauvin-Robinet C, Campion D, Frebourg T, Battini JL, Nicolas G. Haploinsufficiency of the Primary Familial Brain Calcification Gene SLC20A2 Mediated by Disruption of a Regula-tory Element. Mov Disord. 2020 Aug;35(8):1336-1345. doi: 10.1002/mds.28090. Epub 2020 Jun 7. PMID: 32506582.

Coursimault J, Cassinari K, Lecoquierre F, Quenez O, Coutant S, Derambure C, Vezain M, Drouot N, Vera G, Schaefer E, Philippe A, Doray B, Lambert L, Ghoumid J, Smol T, Ra-ma M, Legendre M, Lacombe D, Fergelot P, Olaso R, Boland A, Deleuze JF, Goldenberg A, Saugier-Veber P, Nicolas G. Deep intronic NIPBL de novo mutations and differential diag-noses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome pa-tients. Hum Mutat. 2022 Dec;43(12):1882-1897. doi: 10.1002/humu.24438. Epub 2022 Jul 23. PMID: 35842780.

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. uORF-introducing variants in the 5’UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome. Hum Mutat. 2022 Sep;43(9):1239-1248. doi: 10.1002/humu.24384. Epub 2022 May 17. PMID: 35446447.

Study of the Genetic Determinism of Rare Neurodevelopmental Disorders, Congenital Hydrocephalus, Autism Spectrum Disorders, Study of the Contribution of Episignatures to the Diagnosis of Developmental Disorders, and Study of Familial Recurrence of de novo Mutations in Developmental Disorders, Technological and Bioinformatics Developments

Lecoquierre F, Cassinari K, Drouot N, May A, Fourneaux S, Charbonnier F, Derambure C, Coutant S, Saugier-Veber P, Hoischen A, Charbonnier C, Nicolas G. Assessment of paren-tal mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing. Sci Rep. 2024 Mar 4;14(1):5289. doi: 10.1038/s41598-024-53358-9. PMID: 38438430; PMCID: PMC10912112.

Husson T, Lecoquierre F, Nicolas G, Richard AC, Afenjar A, Audebert-Bellanger S, Ba-dens 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, Ni-zon 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. Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders. Eur J Hum Genet. 2024 Feb;32(2):190-199. doi: 10.1038/s41431-023-01474-x. Epub 2023 Oct 23. PMID: 37872275; PMCID: PMC10853222.

Lecoquierre F, Quenez O, Fourneaux S, Coutant S, Vezain M, Rolain M, Drouot N, Boland A, Olaso R, Meyer V, Deleuze JF, Dabbagh D, Gilles I, Gayet C, Saugier-Veber P, Goldenberg A, Guerrot AM, Nicolas G. High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders. Hum Genet. 2023 Jun;142(6):773-783. doi: 10.1007/s00439-023-02553-1. Epub 2023 Apr 19. PMID: 37076692.

Vezain M, Thauvin-Robinet C, Vial Y, Coutant S, Drunat S, Urtizberea JA, Rolland A, Jacquin-Piques A, Fehrenbach S, Nicolas G, Lecoquierre F, Saugier-Veber P. Retrotrans-poson insertion as a novel mutational cause of spinal muscular atrophy. Hum Genet. 2023 Jan;142(1):125-138. doi: 10.1007/s00439-022-02473-6. Epub 2022 Sep 23. PMID: 36138164.

Coursimault J, Guerrot AM, Morrow MM, Schramm C, Zamora FM, Shanmugham A, Liu S, Zou F, Bilan F, Le Guyader G, Bruel AL, Denommé-Pichon AS, Faivre L, Tran Mau-Them F, Tessarech M, Colin E, El Chehadeh S, Gérard B, Schaefer E, Cogne B, Isidor B, Nizon M, Doummar D, Valence S, Héron D, Keren B, Mignot C, Coutton C, Devillard F, Alaix AS, Amiel J, Colleaux L, Munnich A, Poirier K, Rio M, Rondeau S, Barcia G, Callewaert B, Dheedene A, Kumps C, Vergult S, Menten B, Chung WK, Hernan R, Larson A, Nori K, Stewart S, Wheless J, Kresge C, Pletcher BA, Caumes R, Smol T, Sigaudy S, Coubes C, Helm M, Smith R, Morrison J, Wheeler PG, Kritzer A, Jouret G, Afenjar A, Deleuze JF, Olaso R, Boland A, Poitou C, Frebourg T, Houdayer C, Saugier-Veber P, Nicolas G, Lecoquierre F. MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects. Hum Genet. 2022 Jan;141(1):65-80. doi: 10.1007/s00439-021-02383-z. Epub 2021 Nov 8. PMID: 34748075.

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