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Genome Alert!: A standardized procedure for genomic variant reinterpretation and automated gene-phenotype reassessment in clinical routine.
Yauy K, Lecoquierre F, Baert-Desurmont S, Trost D, Boughalem A, Luscan A, Costa JM, Geromel V, Raymond L, Richard P, Coutant S, Broutin M, Lanos R, Fort Q, Cackowski S, Testard Q, Diallo A, Soirat N, Holder JM, Duforet-Frebourg N, Bouge AL, Beaumeunier S, Bertrand D, Audoux J, Genevieve D, Mesnard L, Nicolas G, Thevenon J, Philippe N. Yauy K, et al. Among authors: richard p. Genet Med. 2022 Jun;24(6):1316-1327. doi: 10.1016/j.gim.2022.02.008. Epub 2022 Mar 17. Genet Med. 2022. PMID: 35311657 Free article.
Diagnostic yield of a practical electrodiagnostic protocol discriminating between different congenital myasthenic syndromes.
Stojkovic T, Masingue M, Turmel H, Hezode-Arzel M, Béhin A, Leonard-Louis S, Bassez G, Bauché S, Blondy P, Richard P, Sternberg D, Eymard B, Fournier E, Villar-Quiles RN. Stojkovic T, et al. Among authors: richard p. Neuromuscul Disord. 2022 Dec;32(11-12):870-878. doi: 10.1016/j.nmd.2022.10.001. Epub 2022 Oct 9. Neuromuscul Disord. 2022. PMID: 36522822
MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset.
Marsili L, van Lint FHM, Russo F, van Spaendonck-Zwarts KY, Ader F, Bichon ML, Faivre L, Houweling AC, Isidor B, Lekanne Deprez RH, Cox MGPJ, Wilde AAM, Mazel B, Mercier S, Dooijes D, Millat G, Nguyen K, Post JG, Richard P, van de Beek I, Vermeer AMC, Boven L, Jongbloed JDH, van Tintelen JP; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart. Marsili L, et al. Among authors: richard p. Neth Heart J. 2023 Aug;31(7-8):300-307. doi: 10.1007/s12471-023-01798-9. Epub 2023 Jul 24. Neth Heart J. 2023. PMID: 37488328 Free PMC article.
Descriptive epidemiology of 30,223 histopathologically confirmed meningiomas in France: 2006-2015.
Depond CC, Zouaoui S, Darlix A, Rigau V, Mathieu-Daudé H, Bauchet F, Khettab M, Trétarre B, Figarella-Branger D, Taillandier L, Boetto J, Pallud J, Zemmoura I, Roche PH, Bauchet L; French Brain Tumour DataBase (FBTDB) Participants, Investigators with the participation of the Société française de neurochirurgie (SFNC); Club de neuro-oncologie de la société française de neurochirurgie, Société française de neuropathologie (SFNP); Association des neuro-oncologues d’expression française (ANOCEF). Depond CC, et al. Acta Neurochir (Wien). 2024 May 14;166(1):214. doi: 10.1007/s00701-024-06093-z. Acta Neurochir (Wien). 2024. PMID: 38740641
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.
Theuriet J, Masingue M, Behin A, Ferreiro A, Bassez G, Jaubert P, Tarabay O, Fer F, Pegat A, Bouhour F, Svahn J, Petiot P, Jomir L, Chauplannaz G, Cornut-Chauvinc C, Manel V, Salort-Campana E, Attarian S, Fortanier E, Verschueren A, Kouton L, Camdessanché JP, Tard C, Magot A, Péréon Y, Noury JB, Minot-Myhie MC, Perie M, Taithe F, Farhat Y, Millet AL, Cintas P, Solé G, Spinazzi M, Esselin F, Renard D, Sacconi S, Ezaru A, Malfatti E, Mallaret M, Magy L, Diab E, Merle P, Michaud M, Fournier M, Pakleza AN, Chanson JB, Lefeuvre C, Laforet P, Richard P, Sternberg D, Villar-Quiles RN, Stojkovic T, Eymard B. Theuriet J, et al. Among authors: richard p. Brain. 2024 May 2:awae124. doi: 10.1093/brain/awae124. Online ahead of print. Brain. 2024. PMID: 38696726
Corrigendum to "RPN (Radius, Position of tumour, iNvasion of renal sinus) Classification and Nephrometry Scoring System: An Internationally Developed Clinical Classification To Describe the Surgical Difficulty for Renal Masses for Which Robotic Partial Nephrectomy Is Planned" [Eur. Urol. Open Sci. 54 (2023) 33-42].
Agarwal DK, Mulholland C, Koye DN, Sathianathen N, Yao H, Dundee P, Moon D, Furrer M, Giudice C, Wang W, Simpson JA, Kearsley J, Norris B, Zargar H, Pan HYC, Mottrie A, Fuller A, Mottaran A, Challacombe B, Kua B, Metcalfe C, Wagner C, Dubey D, Gomez Sancha F, Bruyère F, Gautam G, Pooleri GK, Bozzini G, Lau H, Thyer I, Teoh J, Vass J, Vivian J, McDermott K, Winter M, Ragavan N, Campbell N, Harke NN, Richard PO, Teloken P, Dekuyper P, Sutherland P, Ahlawat R, Nair R, Pemberton R, Catterwell R, Oomen RJA, Weston R, Moritz R, Krishnappa RS, Leslie S, Van Appledorn S, Yuvaraja TB, Meert T, Dujardin T, Gross T, Walton T, Huang WC, Caumartin Y, Agarwal A, Lawrentschuk N, Corcoran NM. Agarwal DK, et al. Among authors: richard po. Eur Urol Open Sci. 2024 Mar 16;63:2-3. doi: 10.1016/j.euros.2024.03.001. eCollection 2024 May. Eur Urol Open Sci. 2024. PMID: 38523653 Free PMC article.
1,023 results