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Year Number of Results
2011 1
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2020 13
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149 results

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Page 1
RRP12 Variants Are Associated With Autosomal Recessive Brain Calcifications.
Monfrini E, Rinchetti P, Anheim M, Klingseisen A, Lagha-Boukbiza O, Cen Z, Yang D, Chen X, Maroofian R, Houlden H, Cappelletti G, Richard AC, Quenez O, Toro C, Frucht SJ, Lotti F, Luo W, Hunt D, Nicolas G, Riboldi GM. Monfrini E, et al. Among authors: nicolas g. Mov Disord. 2025 Oct 8. doi: 10.1002/mds.70058. Online ahead of print. Mov Disord. 2025. PMID: 41059649
Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.
El Chehadeh S, Heide S, Quélin C, Rio M, Margot H, Geneviève D, Isidor B, Goldenberg A, Guégan C, Lesca G, Willems M, Ormières C, Caumes R, Busa T, Bonneau D, Guerrot AM, Marey I, Vera G, Marzin P, Philippe A, Garde A, Coubes C, Vincent M, Michaud V, Mignot C, Charles P, Sigaudy S, Edery P, Lacombe D, Boland A, Nowak F, Bouctot M, Humbert-Asensio ML, Simon A, Chennen K, Sabour N, Delmas C, Nicolas G, Saugier-Veber P, Lecoquierre F, Cassinari K, Keren B, Courtin T, De Sainte Agathe JM, Malan V, Barcia G, Tran Mau-Them F, Safraou H, Philippe C, Thévenon J, Chatron N, Januel L, Piton A, Haushalter V, Gérard B, Lejeune C, Faivre L, Sanlaville D, Héron D, Odent S, Nitschké P, Schluth-Bolard C, Lyonnet S, Deleuze JF, Binquet C, Dollfus H; DEFIDIAG study group. El Chehadeh S, et al. Among authors: nicolas g. Genome Med. 2025 Oct 3;17(1):110. doi: 10.1186/s13073-025-01527-4. Genome Med. 2025. PMID: 41044778 Free PMC article.
Disrupting Integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse development.
Peng X, Jia X, Wang H, Chen J, Zhang X, Tan S, Duan X, Qiu C, Hu M, Hou H, Parenti I, Kuechler A, Kaiser FJ, Renck A, Caylor R, Skinner C, Peeden J, Cogne B, Isidor B, Mercier S, Nicolas G, Guerrot AM, Faletra F, Musante L, Cohen L, Bergant G, Čuturilo G, Peterlin B, Seeley A, Bachman K, Martinez-Agosto JA, van Ravenswaaij-Arts C, Bos D, Kim KH, Bartolomaeus T, Schmederer Z, Abou Jamra R, Aref-Eshghi E, Zhao W, Zou Y, Hu Z, Pan Q, Li F, Chen G, Li J, Hu Z, Xia K, Tan J, Guo H. Peng X, et al. Among authors: nicolas g. J Clin Invest. 2025 Sep 18:e191729. doi: 10.1172/JCI191729. Online ahead of print. J Clin Invest. 2025. PMID: 40966122 Free article.
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.
Leitão E, Santini A, Cogne B, Essid M, Athanasiadou M, LaFlamme CW, Marijon P, Bernard V, Chatron N, Barcia G, Keren B, Mignot C, Charles P, Besnard T, de Sainte Agathe JM, Fuerte EPA, Sengupta S, Milh M, Ramond F, Allan T, An I, Araujo C, Arpin S, Austin-Tse C, Auvin S, Baer S, Bahi-Buisson N, Bak M, Barth M, Baulac S, Weirauch NB, Begemann M, Bennett MF, Bensabath U, Bézieau S, Bhouri R, Biehler M, Hammer TB, Bogoin J, Bonanno E, Boussion S, Bramswig NC, Bris C, Brosseau-Beauvir A, Bruel AL, Buratti J, Chambon P, Chemaly N, Chesneau B, Colin E, Colmard M, Conrad S, Courtin T, Dang LT, de Saint Martin A, de Vanssay de Blavous Legendre C, Denommé-Pichon AS, DiTroia S, Doco-Fenzy M, Dubourg C, Dubucs C, Ducreux S, Dufour L, Duquet R, Durand B, Chehadeh SE, Elbracht M, Faivre L, Faoucher M, Faudet A, Forlani S, Fradin M, Gaignard P, Ganne B, Garde A, Géraud J, Gill D, Goldenberg A, Grabli D, Grisel C, Gueden S, Gueguen P, Guerrot AM, Guichet A, Härting N, Häusler MG, Heide S, Héron B, Héron D, Heulin M, Houdayer C, Isidor B, Jacquette A, Januel L, Jean-Marçais N, Jousselin K, Kaiser FJ, Kaya S, King C, Konyukh M, Kraft F, Krause J, Kirstetter R, Kuechler A, Kurth I, Labalme A, Laloy… See abstract for full author list ➔ Leitão E, et al. Among authors: nicolas g. medRxiv [Preprint]. 2025 Sep 4:2025.09.02.25334923. doi: 10.1101/2025.09.02.25334923. medRxiv. 2025. PMID: 40950445 Free PMC article. Preprint.
Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants.
Pacot L, Blok M, Vidaud D, Fertitta L, Laurendeau I, Coustier A, Maillard T, Barbance C, Hadjadj D, Ye M, Lallemand D, Ferkal S, Funalot B, Lunati-Rozie A, Hebrard B, Bhouri R, Spruijt L, Bessis D, Geneviève D, Vernimmen V, Broen MPG, Sigaudy S, Odent S, Damaj L, Quélin C, Pasquier L, Layet V, Gilbert-Dussardier B, Nicolas G, Guerrot AM, Leheup B, Bursztejn AC, Petit F, Boute-Bénéjean O, Capri Y, Guimier A, Lyonnet S, Baujat G, Bourrat E, Isidor B, Nizon M, Barbarot S, Toutain A, Blesson S, Van-Gils J, Morice-Picard F, Audebert-Bellanger S, Mazereeuw-Hautier J, Ziegler A, Alembik Y, Piard J, Brischoux-Boucher E, Guerrini-Rousseau L, Morera J, Paquis-Flucklinger V, Delobel B, Alessandri JL, Parfait B; NF-France network; Wolkenstein P, Pasmant E. Pacot L, et al. Among authors: nicolas g. J Med Genet. 2025 Aug 28:jmg-2025-110783. doi: 10.1136/jmg-2025-110783. Online ahead of print. J Med Genet. 2025. PMID: 40759488 Free article.
Polygenic Hazard Score for Predicting Age-associated Risk of Alzheimer's Disease in European Populations: Development and Validation.
Akdeniz BC, Bahrami S, Hagen E, Fuhrer J, Fominykh V, Shadrin A, Filiz TT, Athanasiu L, Grenier-Boley B, Bellenguez C, de Rojas I, Küçükali F, Schneider A, Kleineidam L, Rujescu D, Scherbaum N, Deckert J, Riedel-Heller S, Hausner L, Molina-Porcel L, Grimmer T, Heilmann-Heimbach S, Moebus S, Scarmeas N, García-Alberca JM, Franco-Macías E, Mir P, Real LM, Rodriguez-Rodriguez E, Royo JL, Sáez ME, Carracedo Á, de Munain AL, Amer-Ferrer G, Calero M, Medina M, Garcia-Ribas G, Mendioroz M, Dols-Icardo O, Moreno F, Pérez-Tur J, Bullido MJ, Álvarez V, Soininen H, Heikkinen S, de Mendonça A, Mehrabian S, Traykov L, Hort J, Vyhnalek M, Sandau N, Thomassen JQ, Luo J, Pijnenburg YAL, Tesi N, van Swieten J, Giedraitis V, Williams J, Nicolas G, Debette S, Amouyel P, Grünblatt E, Popp J, Bossù P, Galimberti D, Rossi G, Arosio B, Mecocci P, Squassina A, Tremolizzo L, Borroni B, Nacmias B, Seripa D, Rainero I, Daniele A, Piras F, Masullo C, Kehoe PG, Frikke-Schmidt R, Ghidoni R, Ruiz A, Fernandez V, Sánchez-Juan P, Sleegers K, Ingelsson M, Hiltunen M, Sims R, Ramirez A, Broce IJ, Haavik J, Selbæk G, Knapskog AB, Saltvedt I, Bergh S, Aakhus E, Kirsebom BE, Watne LO, Rongve A, Årsland D, Djuro… See abstract for full author list ➔ Akdeniz BC, et al. Among authors: nicolas g. medRxiv [Preprint]. 2025 Jul 28:2025.07.28.25332293. doi: 10.1101/2025.07.28.25332293. medRxiv. 2025. PMID: 40766162 Free PMC article. Preprint.
Machine learning in Alzheimer's disease genetics.
Bracher-Smith M, Melograna F, Ulm B, Bellenguez C, Grenier-Boley B, Duroux D, Nevado AJ, Holmans P, Tijms BM, Hulsman M, de Rojas I, Campos-Martin R, der Lee SV, Castillo A, Küçükali F, Peters O, Schneider A, Dichgans M, Rujescu D, Scherbaum N, Deckert J, Riedel-Heller S, Hausner L, Molina-Porcel L, Düzel E, Grimmer T, Wiltfang J, Heilmann-Heimbach S, Moebus S, Tegos T, Scarmeas N, Dols-Icardo O, Moreno F, Pérez-Tur J, Bullido MJ, Pastor P, Sánchez-Valle R, Álvarez V, Boada M, García-González P, Puerta R, Mir P, Real LM, Piñol-Ripoll G, García-Alberca JM, Rodriguez-Rodriguez E, Soininen H, Heikkinen S, de Mendonça A, Mehrabian S, Traykov L, Hort J, Vyhnalek M, Sandau N, Thomassen JQ, Pijnenburg YAL, Holstege H, van Swieten J, Ramakers I, Verhey F, Scheltens P, Graff C, Papenberg G, Giedraitis V, Williams J, Amouyel P, Boland A, Deleuze JF, Nicolas G, Dufouil C, Pasquier F, Hanon O, Debette S, Grünblatt E, Popp J, Ghidoni R, Galimberti D, Arosio B, Mecocci P, Solfrizzi V, Parnetti L, Squassina A, Tremolizzo L, Borroni B, Wagner M, Nacmias B, Spallazzi M, Seripa D, Rainero I, Daniele A, Piras F, Masullo C, Rossi G, Jessen F, Kehoe P, Magda T, Sánchez-Juan P, Sleegers K, Ingel… See abstract for full author list ➔ Bracher-Smith M, et al. Among authors: nicolas g. Nat Commun. 2025 Jul 22;16(1):6726. doi: 10.1038/s41467-025-61650-z. Nat Commun. 2025. PMID: 40691194 Free PMC article.
Transferability of European-derived Alzheimer's disease polygenic risk scores across multiancestry populations.
Nicolas A, Sherva R, Grenier-Boley B, Kim Y, Kikuchi M, Timsina J, de Rojas I, Dalmasso MC, Zhou X, Le Guen Y, Arboleda-Bustos CE, Camargos Bicalho MA, Guerchet M, van der Lee S, Goss M, Castillo A, Bellenguez C, Küçükali F, Satizabal CL, Fongang B, Yang Q, Peters O, Schneider A, Dichgans M, Rujescu D, Scherbaum N, Deckert J, Riedel-Heller S, Hausner L, Molina-Porcel L, Düzel E, Grimmer T, Wiltfang J, Heilmann-Heimbach S, Moebus S, Tegos T, Scarmeas N, Dols-Icardo O, Moreno F, Pérez-Tur J, Bullido MJ, Pastor P, Sánchez-Valle R, Álvarez V, Cao H, Ip NY, Fu AKY, Ip FCF, Olivar N, Muchnik C, Cuesta C, Campanelli L, Solis P, Politis DG, Kochen S, Brusco LI, Boada M, García-González P, Puerta R, Mir P, Real LM, Piñol-Ripoll G, García-Alberca JM, Royo JL, Rodriguez-Rodriguez E, Soininen H, Heikkinen S, de Mendonça A, Mehrabian S, Traykov L, Hort J, Vyhnalek M, Rasmussen KL, Thomassen JQ, Pijnenburg YAL, Holstege H, van Swieten JC, Seelaar H, Claassen JAHR, Jansen WJ, Ramakers I, Verhey F, van der Lugt A, Scheltens P, Ortega-Rojas J, Concha Mera AG, Mahecha MF, Pardo R, Arboleda G, Bahrami S, Fominykh V, Selbæk G, Graff C, Papenberg G, Giedraitis V, Boland A, Deleuze JF, de Marco LA, de … See abstract for full author list ➔ Nicolas A, et al. Among authors: nicolas g. Nat Genet. 2025 Jul;57(7):1598-1610. doi: 10.1038/s41588-025-02227-w. Epub 2025 Jun 18. Nat Genet. 2025. PMID: 40533518 Free PMC article.
French guidelines for the diagnosis and management of pure hereditary spastic paraplegia.
Mania-Pâris L, Ewenczyk C, Nicolas G, Anheim M, Durr A, Pichon B, Isner-Horobeti ME, Angelini C, Goizet C, Roubertie A, Soudrie B, Davion JB, Marolleau I, Maumy I, Pichon V, Thauvin C, Thomas Q. Mania-Pâris L, et al. Among authors: nicolas g. Rev Neurol (Paris). 2025 Jun;181(6):471-482. doi: 10.1016/j.neurol.2025.05.001. Epub 2025 May 30. Rev Neurol (Paris). 2025. PMID: 40450402 Free article.
149 results