Publications de l’équipe 3

Genomics for brain disorders Team 2021-2026 in chronological order

Original articles as first/last/corresponding

1. Quenez O, Cassinari K, Coutant S, Lecoquierre F, Le Guennec K, Rousseau S, Ricahrd AC, Vasseur S, Bouvignies E, Bou J, Lienard G, Manase S, Fourneaux S, Drouot N, Nguyen-Viet V, Vezain M, Chambon P, Joly-Helas G, Le Meur N, Castelain M, Boland A, Deleuze JF; FREX Consortium; Tournier I, Charbonnier F, Kasper E, Bougeard G, Frebourg T, Saugier-Veber P, Baert-Desurmont S, Campion D, Rovelet-Lecrux A, Nicolas G. Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation. Eur J Hum Genet. 2021 Jan;29(1):99-109. doi: 10.1038/s41431-020-0672-2. Epub 2020 Jun 26. PMID: 32591635; PMCID: PMC7852510. https://pmc.ncbi.nlm.nih.gov/articles/PMC7852510/
2. Moulier V, Krir MW, Dalmont M; SURECT Group; Guillin O, Rothärmel M. A prospective multicenter assessor-blinded randomized controlled study to compare the efficacy of short versus long protocols of electroconvulsive therapy as an augmentation strategy to clozapine in patients with ultra-resistant schizophrenia (SURECT study). Trials. 2021 Apr 15;22(1):284. doi: 10.1186/s13063-021-05227-3. PMID: 33858488; PMCID: PMC8048266. https://pmc.ncbi.nlm.nih.gov/articles/PMC8048266/
3. Coursimault J, Lecoquierre F, Saugier-Veber P, Drouin-Garraud V, Lechevallier J, Boland A, Deleuze JF, Frebourg T, Nicolas G, Brehin AC. Hypersociability associated with developmental delay, macrocephaly and facial dysmorphism points to CHD3 mutations. Eur J Med Genet. 2021 Apr;64(4):104166. doi: 10.1016/j.ejmg.2021.104166. Epub 2021 Feb 9. PMID: 33571694. https://www.sciencedirect.com/science/article/pii/S176972122100032X?via%3Dihub
4. Magnin E, Ayrignac X, Nicolas G. Diffuse neurofibrillary tangles with calcification: A single entity or two disorders in a single patient? Rev Neurol (Paris). 2021 Apr;177(4):439-440. doi: 10.1016/j.neurol.2020.09.008. Epub 2021 Jan 18. PMID: 33478741. https://www.sciencedirect.com/science/article/pii/S0035378720307499?via%3Dihub
5. Cassinari K, Alessandri-Gradt E, Chambon P, Charbonnier F, Gracias S, Beaussire L, Alexandre K, Sarafan-Vasseur N, Houdayer C, Etienne M, Caron F, Plantier JC, Frebourg T. Assessment of Multiplex Digital Droplet RT-PCR as a Diagnostic Tool for SARS-CoV-2 Detection in Nasopharyngeal Swabs and Saliva Samples. Clin Chem. 2021 Apr 29;67(5):736-741. doi: 10.1093/clinchem/hvaa323. PMID: 33331864; PMCID: PMC7799276. https://pmc.ncbi.nlm.nih.gov/articles/PMC7799276/
6. Hureaux M, Chantot-Bastaraud S, Cassinari K, Martinez Casado E, Cuny A, Frébourg T, Vargas-Poussou R, Bréhin AC. When a maternal heterozygous mutation of the CYP24A1 gene leads to infantile hypercalcemia through a maternal uniparental disomy of chromosome 20. Mol Cytogenet. 2021 May 5;14(1):23. doi: 10.1186/s13039-021-00543-4. PMID: 33952337; PMCID: PMC8101107. https://pmc.ncbi.nlm.nih.gov/articles/PMC8101107/
7. Marguet F, Vezain M, Marcorelles P, Audebert-Bellanger S, Cassinari K, Drouot N, Chambon P, Gonzalez BJ, Horowitz A, Laquerriere A, Saugier-Veber P. Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants. Acta Neuropathol Commun. 2021 Jun 6;9(1):104. doi: 10.1186/s40478-021-01207-5. PMID: 34092257; PMCID: PMC8183048. https://pmc.ncbi.nlm.nih.gov/articles/PMC8183048/
8. Grangeon L, O’Connor E, Danno D, Ngoc TMP, Cheema S, Tronvik E, Davagnanam I, Matharu M. Is pituitary MRI screening necessary in cluster headache? Cephalalgia. 2021 Jun;41(7):779-788. doi: 10.1177/0333102420983303. Epub 2021 Jan 6. PMID: 33406848; PMCID: PMC8166405. https://pmc.ncbi.nlm.nih.gov/articles/PMC8166405/
9. 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, Sellal 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 neuropathological 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. https://link.springer.com/article/10.1007/s00401-021-02320-4
10. 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. https://pmc.ncbi.nlm.nih.gov/articles/PMC8439959/
11. Blanluet M, Chantot-Bastaraud S, Chambon P, Cassinari K, Vera G, Goldenberg A, Keren B, Le Meur N, Hannequin D, Mace B, Siffroi JP, Frebourg T, Nicolas G, Joly-Helas G. Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblings. Am J Med Genet A. 2021 Oct;185(10):3057-3061. doi: 10.1002/ajmg.a.62361. Epub 2021 May 27. PMID: 34043868. https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.62361
12. 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. https://pmc.ncbi.nlm.nih.gov/articles/PMC8684260/          
13. Hebant B, Ahtoy P, Bourre B, Maltête D, Wallon D. Unusual case of acute cerebral infarction due to large proximal ICA floating thrombus in the setting of severe COVID-19 infection. Rev Neurol (Paris). 2021 Dec;177(10):1294-1296. doi: 10.1016/j.neurol.2021.04.004. Epub 2021 Jun 16. PMID: 34148737; PMCID: PMC8206621. https://pmc.ncbi.nlm.nih.gov/articles/PMC8206621/
14. Grangeon L, Paquet C, Guey S, Zarea A, Martinaud O, Rotharmel M, Maltête D, Quillard-Muraine M, Nicolas G, Charbonnier C, Chabriat H, Wallon D. Cerebrospinal Fluid Profile of Tau, Phosphorylated Tau, Aβ42, and Aβ40 in Probable Cerebral Amyloid Angiopathy. J Alzheimers Dis. 2022;87(2):791-802. doi: 10.3233/JAD-215208. PMID: 35367960.
15. Morin A, Pressat-Laffouilhere T, Sarazin M, Lagarde J, Roue-Jagot C, Olivieri P, Paquet C, Cognat E, Dumurgier J, Pasquier F, Lebouvier T, Ceccaldi M, Godefroy O, Martinaud O, Grosjean J, Zarea A, Maltête D, Wallon D. Telemedicine in French Memory Clinics During the COVID-19 Pandemic. J Alzheimers Dis. 2022;86(2):525-530. doi: 10.3233/JAD-215459. PMID: 34974434. https://journals.sagepub.com/doi/10.3233/JAD-215459?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200pubmed
16. 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. https://link.springer.com/article/10.1007/s00439-021-02383-z
17. Nicolas G, Sévigny M, Lecoquierre F, Marguet F, Deschênes A, Del Pelaez MC, Feuillette S, Audebrand A, Lecourtois M, Rousseau S, Richard AC, Cassinari K, Deramecourt V, Duyckaerts C, Boland A, Deleuze JF, Meyer V, Clarimon Echavarria J, Gelpi E, Akiyama H, Hasegawa M, Kawakami I, Wong TH, Van Rooij JGJ, Van Swieten JC, Campion D, Dutchak PA, Wallon D, Lavoie-Cardinal F, Laquerrière A, Rovelet-Lecrux A, Sephton CF. A postzygotic de novo NCDN mutation identified in a sporadic FTLD patient results in neurochondrin haploinsufficiency and altered FUS granule dynamics. Acta Neuropathol Commun. 2022 Feb 12;10(1):20. doi: 10.1186/s40478-022-01314-x. PMID: 35151370; PMCID: PMC8841087. https://pmc.ncbi.nlm.nih.gov/articles/PMC8841087/
18. Moulier V, Guehl J, Evêque-Mourroux E, Quesada P, Rothärmel M. A Retrospective Study of Postictal Suppression during Electroconvulsive Therapy. J Clin Med. 2022 Mar 5;11(5):1440. doi: 10.3390/jcm11051440. PMID: 35268529; PMCID: PMC8911063. https://pmc.ncbi.nlm.nih.gov/articles/PMC8911063/
19. Miguel L, Rovelet-Lecrux A, Chambon P, Joly-Helas G, Rousseau S, Wallon D, Epelbaum S, Frébourg T, Campion D, Nicolas G, Lecourtois M. Generation of 17q21.31 duplication 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. https://www.sciencedirect.com/science/article/pii/S1873506122001118?via%3Dihub
20. Chastan N, Etard O, Parain D, Gerardin P, Fouldrin G, Derambure P, Tard C, Gillibert A, Nathou C, Delval A, Welter ML, Guillin O. Repetitive transcranial magnetic stimulation for patients with functional paralysis: a randomized controlled study. Eur J Neurol. 2022 May;29(5):1293-1302. doi: 10.1111/ene.15264. Epub 2022 Feb 14. PMID: 35098613. https://onlinelibrary.wiley.com/doi/10.1111/ene.15264
21. Schramm C, Charbonnier C, Zaréa A, Lacour M, Wallon D; CNRMAJ collaborators; Boland 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. Erratum in: Genome Med. 2022 Aug 3;14(1):83. doi: 10.1186/s13073-022-01091-1. PMID: 35761418; PMCID: PMC9238165. https://pmc.ncbi.nlm.nih.gov/articles/PMC9238165/
22. Coursimault J, Goldenberg A, Nicolas G, Saugier-Veber P, Coutant S, Vincent A, Pouliquen D, Feltin C, Aref-Eshghi E, Sadikovic B, Lecoquierre F. Contribution of DNA methylation profiling to the reclassification of a variant of uncertain significance in the KDM5C gene. Eur J Med Genet. 2022 Sep;65(9):104556. doi: 10.1016/j.ejmg.2022.104556. Epub 2022 Jul 1. PMID: 35781022. https://www.sciencedirect.com/science/article/pii/S1769721222001379?via%3Dihub
23. Grangeon L, Quesney G, Verdalle-Cazes M, Coulette S, Renard D, Wacongne A, Allou T, Olivier N, Boukriche Y, Blanchet-Fourcade G, Labauge P, Arquizan C, Canaple S, Godefroy O, Martinaud O, Verdure P, Quillard-Muraine M, Pariente J, Magnin E, Nicolas G, Charbonnier C, Maltête D, Formaglio M, Raposo N, Ayrignac X, Wallon D. Different clinical outcomes between cerebral amyloid angiopathy-related inflammation and non-inflammatory form. J Neurol. 2022 Sep;269(9):4972-4984. doi: 10.1007/s00415-022-11145-4. Epub 2022 Jun 26. PMID: 35752990. https://link.springer.com/article/10.1007/s00415-022-11145-4
24. 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. https://onlinelibrary.wiley.com/doi/10.1002/humu.24384
25. 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, Kawalia 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, Lathrop M, Lemstra AW, Lleó A, Luckcuck L, Mannens MMAM, Marshall R, Martin ER, Masullo 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 disease. Nat Genet. 2022 Dec;54(12):1786-1794. doi: 10.1038/s41588-022-01208-7. Epub 2022 Nov 21. PMID: 36411364; PMCID: PMC9729101. https://pmc.ncbi.nlm.nih.gov/articles/PMC9729101/
26. 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, Rama 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 diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients. Hum Mutat. 2022 Dec;43(12):1882-1897. doi: 10.1002/humu.24438. Epub 2022 Jul 23. PMID: 35842780. https://onlinelibrary.wiley.com/doi/10.1002/humu.24438
27. 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. https://normandie-univ.hal.science/hal-04292799v1
28. 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. Retrotransposon 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. https://link.springer.com/article/10.1007/s00439-022-02473-6
29. Bouaziz N, Laidi C, Bulteau S, Berjamin C, Thomas F, Moulier V, Benadhira R, Szekely D, Poulet E, Galvao F, Guillin O, Castillo MC, Sauvaget A, Plaze M, Januel D, Brunelin J, Rotharmel M. Real world transcranial magnetic stimulation for major depression: A multisite, naturalistic, retrospective study. J Affect Disord. 2023 Apr 1;326:26-35. doi: 10.1016/j.jad.2023.01.070. Epub 2023 Jan 25. PMID: 36708953. https://www.sciencedirect.com/science/article/pii/S0165032723000861?via%3Dihub
30. Rothärmel M, Quesada P, Husson T, Harika-Germaneau G, Nathou C, Guehl J, Dalmont M, Opolczynski G, Miréa-Grivel I, Millet B, Gérardin E, Compère V, Dollfus S, Jaafari N, Bénichou J, Thill C, Guillin O, Moulier V. The priming effect of repetitive transcranial magnetic stimulation on clinical response to electroconvulsive therapy in treatment-resistant depression: a randomized, double-blind, sham-controlled study. Psychol Med. 2023 Apr;53(5):2060-2071. doi: 10.1017/S0033291721003810. Epub 2021 Sep 28. PMID: 34579796.
31. 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 collaborators; 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. https://pmc.ncbi.nlm.nih.gov/articles/PMC10173644/
32. 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. https://link.springer.com/article/10.1007/s00439-023-02553-1
33. Grangeon L, Roussel M, Gillibert A, Verdalle-Cazes M, Dolores M, Ozkul-Wermester O, Gilard V, Derrey S, Maltête D, Gerardin E, Joly LM, Wallon D, Magne N. Applicability of the Edinburgh CT Criteria for Lobar Intracerebral Hemorrhage Associated with Cerebral Amyloid Angiopathy. Clin Neuroradiol. 2023 Jun;33(2):455-465. doi: 10.1007/s00062-022-01230-6. Epub 2023 Jan 4. PMID: 36598532. https://link.springer.com/article/10.1007/s00062-022-01230-6
34. Helven C, Burel J, Vannier M, Maltête D, Ozkul-Wermester O, Hermary C, Wallon D, Grangeon L. Impact of previous statin use on first intracerebral hemorrhage in cerebral amyloid angiopathy. Rev Neurol (Paris). 2023 Dec;179(10):1074-1080. doi: 10.1016/j.neurol.2023.02.071. Epub 2023 Aug 17. PMID: 37598087. https://www.sciencedirect.com/science/article/pii/S0035378723009992?via%3Dihub
35. Moulier V, Isaac C, Guillin O, Januel D, Bouaziz N, Rothärmel M. Effects of the combination of neurostimulation techniques in patients with mental disorders: A systematic review. Asian J Psychiatr. 2024 Jan;91:103863. doi: 10.1016/j.ajp.2023.103863. Epub 2023 Dec 12. PMID: 38141540. https://www.sciencedirect.com/science/article/pii/S1876201823004203?via%3Dihub
36. Timmi A, Morin A, Guillin O, Nicolas G. One Train May Hide Another: Two Cases of Co-Occurring Primary Familial Brain Calcification and Alzheimer’s Disease. J Mol Neurosci. 2024 Jan 5;74(1):2. doi: 10.1007/s12031-023-02184-1. PMID: 38180527. https://link.springer.com/article/10.1007/s12031-023-02184-1
37. Dollfus S, Letourneur F, Metivier L, Moulier V, Rothärmel M. A digital tool for self-assessment of auditory verbal hallucinations in schizophrenia. Schizophr Res. 2024 Feb;264:188-190. doi: 10.1016/j.schres.2023.12.016. Epub 2023 Dec 27. PMID: 38154361. https://www.sciencedirect.com/science/article/pii/S0920996423004632?via%3Dihub
38. 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. 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. https://pmc.ncbi.nlm.nih.gov/articles/PMC10853222/
39. 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 parental 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. https://pmc.ncbi.nlm.nih.gov/articles/PMC10912112/
40. Wallon D. Editorial: Degenerative and cognitive diseases. Curr Opin Neurol. 2024 Apr 1;37(2):152-153. doi: 10.1097/WCO.0000000000001250. Epub 2024 Mar 7. PMID: 38451482. https://journals.lww.com/co-neurology/citation/2024/04000/editorial__degenerative_and_cognitive_diseases.9.aspx
41. Nicolas G. Association of Pick’s disease with the MAPT H2 haplotype. Lancet Neurol. 2024 May;23(5):451-453. doi: 10.1016/S1474-4422(24)00123-6. PMID: 38631754. https://www.sciencedirect.com/science/article/pii/S1474442224001236?via%3Dihub
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Reviews

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4. Nicolas G. Recent advances in Alzheimer disease genetics. Curr Opin Neurol. 2024 Apr 1;37(2):154-165. doi: 10.1097/WCO.0000000000001242. Epub 2024 Jan 19. PMID: 38235704.
5. Wallon D, Garnier-Crussard A. The challenging concept of preclinical Alzheimer’s disease. Rev Neurol (Paris). 2025 Nov;181(9):881-892. doi: 10.1016/j.neurol.2025.07.016. Epub 2025 Nov 12. PMID: 41238317. https://www.sciencedirect.com/science/article/pii/S0035378725005910?via%3Dihub
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