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Page 1
Biallelic germline variants in the hematologic malignancy predisposition gene DDX41 cause retinal dystrophy through dysregulation of retinal homeostasis.
Mars Z, Zanetti A, Kaminska K, Miyagawa T, Liu D, Antonio A, Arno G, Audo I, Ayuso C, Muhammad Jafar Hussain H, Bao X, Barberán-Martínez P, Bocquet B, Boguszewska-Chachulska A, Condroyer C, David P, Dollfus H, Fares-Taie L, Fernández-Caballero L, García-García G, Michel V, Guerrera CI, Jung V, Kessel L, Gioja L, Lin S, Matczynska E, Millán JM, Moye AR, Martín-Gutiérrez MP, Quinodoz M, Robert MP, Roger JE, Sousa-Luis R, Swafiri ST, Teper S, Meunier I, Patat O, Pennesi ME, Wadt KAW, Wang M, Webster AR, Yang P, Yumei L, Zeitz C, Rieux-Laucat F, Giraudier S, Chen R, Fica SM, Rivolta C, Sebert M, Rozet JM, Perrault I. Mars Z, et al. Among authors: patat o. medRxiv [Preprint]. 2026 Jan 30:2026.01.28.26344834. doi: 10.64898/2026.01.28.26344834. medRxiv. 2026. PMID: 41646732 Free PMC article. Preprint.
Single nucleotide variants in UNC13C associated with neurodevelopmental disorders affect ethanol sensitivity in Drosophila.
Müller F, Neuser S, Shrestha G, Neupane NP, Götze KJ, Brunetti-Pierri N, Terrone G, Reymond A, van Gassen KL, Brilstra E, Steindl K, Begemann A, Rauch A, Rips J, Fahham D, Barakat TS, Patat O, Mortreux J, Chau MHK, Rosenfeld JA, Mizerik E, Srivastava S, Luo X, Dahse AK, Scholz N, Das J, Roman G, Langenhan T, Abou Jamra R, Mrestani A, Ljaschenko D. Müller F, et al. Among authors: patat o. Biochem Biophys Rep. 2025 Nov 28;45:102375. doi: 10.1016/j.bbrep.2025.102375. eCollection 2026 Mar. Biochem Biophys Rep. 2025. PMID: 41399760 Free PMC article.
The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort.
Aubert Mucca M, Brunelle P, Doco Fenzy M, Vanlerberghe C, Dieux A, Feyereisen L, Jobic F, Lode L, Le Guyader G, Petit F, Schaefer E, Zaafrane-Khachnaoui K, Ziegler A, Patat O. Aubert Mucca M, et al. Among authors: patat o. Clin Genet. 2026 Jan;109(1):188-193. doi: 10.1111/cge.70015. Epub 2025 Jul 17. Clin Genet. 2026. PMID: 41339098 Free PMC article.
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Rots D, Jakub TE, Keung C, Jackson A, Banka S, Pfundt R, de Vries BBA, van Jaarsveld RH, Hopman SMJ, van Binsbergen E, Valenzuela I, Hempel M, Bierhals T, Kortüm F, Lecoquierre F, Goldenberg A, Hertz JM, Andersen CB, Kibæk M, Prijoles EJ, Stevenson RE, Everman DB, Patterson WG, Meng L, Gijavanekar C, De Dios K, Lakhani S, Levy T, Wagner M, Wieczorek D, Benke PJ, Lopez Garcia MS, Perrier R, Sousa SB, Almeida PM, Simões MJ, Isidor B, Deb W, Schmanski AA, Abdul-Rahman O, Philippe C, Bruel AL, Faivre L, Vitobello A, Thauvin C, Smits JJ, Garavelli L, Caraffi SG, Peluso F, Davis-Keppen L, Platt D, Royer E, Leeuwen L, Sinnema M, Stegmann APA, Stumpel CTRM, Tiller GE, Bosch DGM, Potgieter ST, Joss S, Splitt M, Holden S, Prapa M, Foulds N, Douzgou S, Puura K, Waltes R, Chiocchetti AG, Freitag CM, Satterstrom FK, De Rubeis S, Buxbaum J, Gelb BD, Branko A, Kushima I, Howe J, Scherer SW, Arado A, Baldo C, Patat O, Bénédicte D, Lopergolo D, Santorelli FM, Haack TB, Dufke A, Bertrand M, Falb RJ, Rieß A, Krieg P, Spranger S, Bedeschi MF, Iascone M, Josephi-Taylor S, Roscioli T, Buckley MF, Liebelt J, Dagli AI, Aten E, Hurst ACE, Hicks A, Suri M, Aliu E, Naik S, Sidlow R, Coursimault J, Ni… See abstract for full author list ➔ Rots D, et al. Among authors: patat o. Am J Hum Genet. 2025 Nov 6;112(11):2814. doi: 10.1016/j.ajhg.2025.10.010. Epub 2025 Oct 18. Am J Hum Genet. 2025. PMID: 41110445 Free PMC article. No abstract available.
ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature.
Lesieur-Sebellin M, Wigby K, Schaefer E, Gouronc A, Chatron N, Poulat AL, Putoux A, Goldenberg A, Quibeuf M, Chambon P, Rondeau S, Barcia G, Levy J, Piard J, Kuentz P, Doco-Fenzy M, Bednarek N, Caumes R, Bouquillon S, Le Caignec C, Patat O, Khau Van Kien P, Chiesa J, Delplancq G, Bacrot S, Brisset S, Ginglinger E, Cantagrel V, Lenberg J, Friedman JR, Rio M, Scheidecker S, Malan V. Lesieur-Sebellin M, et al. Among authors: patat o. J Med Genet. 2025 Dec 21:jmg-2025-110631. doi: 10.1136/jmg-2025-110631. Online ahead of print. J Med Genet. 2025. PMID: 41062261
Type and position of repeat interruptions as determinants of disease severity and expansion size in Friedreich ataxia.
Benkirane M, Marelli C, Choumert A, Goizet C, Patat O, Ewenczyk C, Anheim M, Mégarbané A, Larrieu L, Charlin C, Ory-Magne F, Chaussenot A, Fradin M, Guissart C, Pointaux M, Cossée M, Vincent MC, Bergougnoux A, Hersent C, Bareil C, Roubertie A, Fluchère F, Renaud M, Kremer L, Tranchant C, Attarian S, Odent S, Laugel V, Walther-Louvier U, Desnous B, Bieth E, Husson I, Azulay JP; INTREP-AF consortium; Rivier F, Doray B, Durr A, Aouinti S, Molinari N, Koenig M. Benkirane M, et al. Among authors: patat o. Genet Med. 2025 Dec;27(12):101588. doi: 10.1016/j.gim.2025.101588. Epub 2025 Sep 23. Genet Med. 2025. PMID: 41014100
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: patat o. medRxiv [Preprint]. 2025 Sep 4:2025.09.02.25334923. doi: 10.1101/2025.09.02.25334923. medRxiv. 2025. PMID: 40950445 Free PMC article. Preprint.
A large cohort study of prenatal exome sequencing redefines diagnosis in fetal corpus callosum anomalies.
Héron D, Gerasimenko A, Frugère L, Ducourneau J, Rossi C, Nava C, de Sainte-Agathe JM, Mignot C, Lehalle D, Grotto S, El-Khattabi L, Nguyen T, Garel C, Blondiaux E, Milh M, Desnous B, Girard N, des Portes V, Guibaud L, Sabatier I, Patat O, Julia S, Benachi A, Vivanti A, Picone O, Guet A, Nizon M, Vincent M, Conrad S, Le Vaillant C, Billette de Villemeur T, Moutton S, Tsatsaris V, Guilbaud L, Jouannic JM, Valence S, Keren B, Heide S. Héron D, et al. Among authors: patat o. Brain. 2025 Dec 4;148(12):4253-4258. doi: 10.1093/brain/awaf311. Brain. 2025. PMID: 40905141
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Nava C, Cogne B, Santini A, Leitão E, Lecoquierre F, Chen Y, Stenton SL, Besnard T, Heide S, Baer S, Jakhar A, Neuser S, Keren B, Faudet A, Forlani S, Faoucher M, Uguen K, Platzer K, Afenjar A, Alessandri JL, Andres S, Angelini C, Aral B, Arveiler B, Attie-Bitach T, Aubert Mucca M, Banneau G, Barakat TS, Barcia G, Baulac S, Beneteau C, Benkerdou F, Bernard V, Bézieau S, Bonneau D, Bonnet-Dupeyron MN, Boussion S, Boute O, Brischoux-Boucher E, Bryen SJ, Buratti J, Busa T, Caliebe A, Capri Y, Cassinari K, Caumes R, Cenni C, Chambon P, Charles P, Christodoulou J, Colson C, Conrad S, Cospain A, Coursimault J, Courtin T, Couse M, Coutton C, Creveaux I, D'Gama AM, Dauriat B, de Sainte Agathe JM, Del Gobbo G, Delahaye-Duriez A, Delanne J, Denommé-Pichon AS, Dieux-Coeslier A, Do Souto Ferreira L, Doco-Fenzy M, Drukewitz S, Duboc V, Dubourg C, Duffourd Y, Dyment D, El Chehadeh S, Elmaleh M, Faivre L, Fennelly S, Fischer H, Fradin M, Galludec Vaillant C, Ganne B, Ghoumid J, Goel H, Gokce-Samar Z, Goldenberg A, Gonfreville Robert R, Gorokhova S, Goujon L, Granier V, Gras M, Greally JM, Greiten B, Gueguen P, Guerrot AM, Guha S, Guimier A, Haack TB, Hadj Abdallah H, Halleb Y, Harbuz R, Harris M… See abstract for full author list ➔ Nava C, et al. Among authors: patat o. Nat Genet. 2025 Jun;57(6):1374-1388. doi: 10.1038/s41588-025-02184-4. Epub 2025 May 16. Nat Genet. 2025. PMID: 40379786 Free PMC article.
34 results