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MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.
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. Coursimault J, et al. Among authors: schramm c. Hum Genet. 2022 Jan;141(1):65-80. doi: 10.1007/s00439-021-02383-z. Epub 2021 Nov 8. Hum Genet. 2022. PMID: 34748075 Free article.
Impaired SorLA maturation and trafficking as a new mechanism for SORL1 missense variants in Alzheimer disease.
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. Rovelet-Lecrux A, et al. Among authors: schramm c. Acta Neuropathol Commun. 2021 Dec 18;9(1):196. doi: 10.1186/s40478-021-01294-4. Acta Neuropathol Commun. 2021. PMID: 34922638 Free PMC article.
Publisher Correction: Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes.
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. Schramm C, et al. Genome Med. 2022 Aug 3;14(1):83. doi: 10.1186/s13073-022-01091-1. Genome Med. 2022. PMID: 35922859 Free PMC article. No abstract available.
Assessment of Mendelian and risk-factor genes in Alzheimer disease: A prospective nationwide clinical utility study and recommendations for genetic screening.
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, Auriacombe 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, Ceccaldi 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, Levy 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, Pouc… See abstract for full author list ➔ Nicolas G, et al. Among authors: schramm c. Genet Med. 2024 May;26(5):101082. doi: 10.1016/j.gim.2024.101082. Epub 2024 Jan 24. Genet Med. 2024. PMID: 38281098 Free article.
Clinical and neuropathological diversity of tauopathy in MAPT duplication carriers.
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. Wallon D, et al. Among authors: schramm c. Acta Neuropathol. 2021 Aug;142(2):259-278. doi: 10.1007/s00401-021-02320-4. Epub 2021 Jun 6. Acta Neuropathol. 2021. PMID: 34095977
Effects of eight neuropsychiatric copy number variants on human brain structure.
Modenato C, Kumar K, Moreau C, Martin-Brevet S, Huguet G, Schramm C, Jean-Louis M, Martin CO, Younis N, Tamer P, Douard E, Thébault-Dagher F, Côté V, Charlebois AR, Deguire F, Maillard AM, Rodriguez-Herreros B, Pain A, Richetin S; 16p11.2 European Consortium; Simons Searchlight Consortium; Melie-Garcia L, Kushan L, Silva AI, van den Bree MBM, Linden DEJ, Owen MJ, Hall J, Lippé S, Chakravarty M, Bzdok D, Bearden CE, Draganski B, Jacquemont S. Modenato C, et al. Among authors: schramm c. Transl Psychiatry. 2021 Jul 20;11(1):399. doi: 10.1038/s41398-021-01490-9. Transl Psychiatry. 2021. PMID: 34285187 Free PMC article.
Measuring and Estimating the Effect Sizes of Copy Number Variants on General Intelligence in Community-Based Samples.
Huguet G, Schramm C, Douard E, Jiang L, Labbe A, Tihy F, Mathonnet G, Nizard S, Lemyre E, Mathieu A, Poline JB, Loth E, Toro R, Schumann G, Conrod P, Pausova Z, Greenwood C, Paus T, Bourgeron T, Jacquemont S; IMAGEN Consortium. Huguet G, et al. Among authors: schramm c. JAMA Psychiatry. 2018 May 1;75(5):447-457. doi: 10.1001/jamapsychiatry.2018.0039. JAMA Psychiatry. 2018. PMID: 29562078 Free PMC article.
617 results