FREYSSIN A., FAUCONNEAU B., CHASSAING D., RIOUX BILAN A., PAGE G. Chronic intraperitoneal injection of polyethylene glycol 200 in mice induces hippocampal neuroinflammation. Drug and Chemical Toxicology. 2020, in press. [IF: 2.405].

Chapotte-Baldacci C-A, Lizot G, Jajkiewicz C, Lévêque M, Penna A, Magaud C, Thoreau V, Bois P, Sebille S, Chatelier A. Fine Tuning of Calcium Constitutive Entry by Optogenetically-Controlled Membrane Polarization: Impact on Cell Migration. Cells 2020, 9, 1684; doi:10.3390/cells9071684 [IF: 4.366]

Portet S, Banor T, Bousquet J, Simonneau A, Flores M, Ingrand P, Milin S, Karayan-Tapon L, Bataille B. New Insights into Expression of Hormonal Receptors by Meningiomas. World Neurosurg. 2020 Aug;140:e87-e96. [IF: 1.829].

Martellosio JP, Puyade M, Debiais C, Elsendoorn A, Souchaud-Debouverie O, Landron C, Luca L, Roy-Peaud F, Milin S, Roblot P, Martin M. Bone marrow biopsy diagnostic yield in internal medicine. Postgrad Med. 2020 Nov 4:1-7. [IF: 1.911].

Richard S, Tachon G, Milin S, Wager M, Karayan-Tapon L. Dual MGMT inactivation by promoter hypermethylation and loss of the long arm of chromosome 10 in glioblastoma. Cancer Med. 2020 Sep;9(17):6344-6353. [IF: 3.491].

Cruz-Jentoft AJ, Daragjati J, Fratiglioni L, Maggi S, Mangoni AA, Mattace-Raso F, Paccalin M, Polidori MC, Topinkova E, Ferrucci L, Pilotto A; MPI_AGE Investigators. Using the Multidimensional Prognostic Index (MPI) to improve cost-effectiveness of interventions in multimorbid frail older persons: results and final recommendations from the MPI_AGE European Project. Aging Clin Exp Res. 2020 May;32(5):861-868. [IF: 2.697].

Veronese N, Cella A, Cruz-Jentoft AJ, Polidori MC, Mattace-Raso F, Paccalin M, Topinkova E, Greco A, Mangoni AA, Daragjati J, Siri G, Pilotto A; MPI_AGE Investigators. Enteral tube feeding and mortality in hospitalized older patients: A multicenter longitudinal study. Clin Nutr. 2020 May;39(5):1608-1612. [IF: 6.36].

Hernández-Ruiz V, Forestier E, Gavazzi G, Ferry T, Grégoire N, Breilh D, Paccalin M, Goutelle S, Roubaud-Baudron C; GInGer (Groupe Infectio-Gériatrie).Subcutaneous Antibiotic Therapy: The Why, How, Which Drugs and When. J Am Med Dir Assoc. 2020 Jul 13:S1525-8610(20)30363-7. [IF: 4.367].

Caupenne A, Ingrand P, Ingrand I, Forestier E, Roubaud-Baudron C, Gavazzi G, Paccalin M. Acute Clostridioides difficile Infection in Hospitalized Persons Aged 75 and Older: 30-Day Prognosis and Risk Factors for Mortality. J Am Med Dir Assoc. 2020 Jan;21(1):110-114. [IF: 4.367].

Poupin P, Bouleti C, Degand B, Paccalin M, Le Gal F, Bureau ML, Alos B, Roumegou P, Christiaens L, Ingrand P, Garcia R. Prognostic value of Charlson Comorbidity Index in the elderly with a cardioverter defibrillator implantation. Int J Cardiol. 2020 Sep 1;314:64-69. [IF: 3.229].

Liuu E, Saulnier PJ, Gand E, Ragot S, Valero S, Jamet A, Hadjadj S, Paccalin M. Frailty and diabetes status in older patients with cancer: impact on mortality in the ANCRAGE cohort. Aging Clin Exp Res. 2020 Sep;32(9):1809-1819. [IF: 2.697].

Mahr A, Belhassen M, Paccalin M, Devauchelle-Pensec V, Nolin M, Gandon S, Idier I, Hachulla E. Characteristics and management of giant cell arteritis in France: a study based on national health insurance claims data. Rheumatology (Oxford). 2020 Jan 1;59(1):120-128. [IF: 5.606].

Durand M, Forestier E, Gras Aygon C, Sirvain S, de Wazières B, Bernard L, Paccalin M, Legout L, Roubaud Baudron C, Gavazzi G, Fraisse T; L’intergroupe GInGer (SPILF SFGG). Determinants of doctors’ antibiotic prescriptions for patients over 75 years old in the terminal stage of palliative care. Med Mal Infect. 2020 Oct 16:S0399-077X(20)30740-X. [IF: 1.782].

Hanon O, Vidal JS, Pisica-Donose G, Orvoën G, David JP, Chaussade E, Caillard L, de Jong LW, Boulloche N, Vinsonneau U, Bouée S, Krolak-Salmon P, Fauchier L, Jouanny P, Sacco G, Bellarbre F, Belmin J, Puisieux F, Lilamand M, Paillaud E, Boureau AS; SAFIR study group. Bleeding risk with rivaroxaban compared with vitamin K antagonists in patients aged 80 years or older with atrial fibrillation. Heart. 2020 Dec 1:heartjnl-2020-317923. [IF: 5.213].

Liuu E, Hu C, Valero S, Brunet T, Jamet A, Bureau ML, Pilotto A, Saulnier PJ, Paccalin M. Comprehensive geriatric assessment in older patients with cancer: an external validation of the multidimensional prognostic index in a French prospective cohort study. BMC Geriatr. 2020 Aug 18;20(1):295. [IF: 3.077].

Vonk JMJ, Bouteloup V, Mangin JF, Dubois B, Blanc F, Gabelle A, Ceccaldi M, Annweiler C, Krolak-Salmon P, Belin C, Rivasseau-Jonveaux T, Julian A, Sellal F, Magnin E, Chupin M, Habert MO, Chêne G, Dufouil C; MEMENTO cohort Study Group. Semantic loss marks early Alzheimer’s disease-related neurodegeneration in older adults without dementia. Alzheimers Dement (Amst). 2020 Aug 5;12(1):e12066. [IF: 17.127].

Nambot S, Faivre L, Mirzaa G, Thevenon J, Bruel AL, Mosca-Boidron AL, Masurel-Paulet A, Goldenberg A, Le Meur N, Charollais A, Mignot C, Petit F, Rossi M, Metreau J, Layet V, Amram D, Boute-Bénéjean O, Bhoj E, Cousin MA, Kruisselbrink TM, Lanpher BC, Klee EW, Fiala E, Grange DK, Meschino WS, Hiatt SM, Cooper GM, Olivié H, Smith WE, Dumas M, Lehman A; CAUSES Study, Inglese C, Nizon M, Guerrini R, Vetro A, Kaplan ES, Miramar D, Van Gils J, Fergelot P, Bodamer O, Herkert JC, Pajusalu S, Õunap K, Filiano JJ, Smol T, Piton A, Gérard B, Chantot-Bastaraud S, Bienvenu T, Li D, Juusola J, Devriendt K, Bilan F, Poé C, Chevarin M, Jouan T, Tisserant E, Rivière JB, Tran Mau-Them F, Philippe C, Duffourd Y, Dobyns WB, Hevner R, Thauvin-Robinet C. De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature. Eur J Hum Genet. 2020 Jun;28(6):770-782. [IF: 3.657].

Guo H, Zhang Q, Dai R, Yu B, Hoekzema K, Tan J, Tan S, Jia X, Chung WK, Hernan R, Alkuraya FS, Alsulaiman A, Al-Muhaizea MA, Lesca G, Pons L, Labalme A, Laux L, Bryant E, Brown NJ, Savva E, Ayres S, Eratne D, Peeters H, Bilan F, Letienne-Cejudo L, Gilbert-Dussardier B, Ruiz-Arana IL, Merlini JM, Boizot A, Bartoloni L, Santoni F, Karlowicz D, McDonald M, Wu H, Hu Z, Chen G, Ou J, Brasch-Andersen C, Fagerberg CR, Dreyer I, Chun-Hui Tsai A, Slegesky V, McGee RB, Daniels B, Sellars EA, Carpenter LA, Schaefer B, Sacoto MJG, Begtrup A, Schnur RE, Punj S, Wentzensen IM, Rhodes L, Pan Q, Bernier RA, Chen C, Eichler EE, Xia K. NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism. Am J Hum Genet. 2020 Nov 5;107(5):963-976. [IF: 3.657].

Tolchin D, Yeager JP, Prasad P, Dorrani N, Russi AS, Martinez-Agosto JA, Haseeb A, Angelozzi M, Santen GWE, Ruivenkamp C, Mercimek-Andrews S, Depienne C, Kuechler A, Mikat B, Ludecke HJ, Bilan F, Le Guyader G, Gilbert-Dussardier B, Keren B, Heide S, Haye D, Van Esch H, Keldermans L, Ortiz D, Lancaster E, Krantz ID, Krock BL, Pechter KB, Arkader A, Medne L, DeChene ET, Calpena E, Melistaccio G, Wilkie AOM, Suri M, Foulds N; Genomics England Research Consortium, Begtrup A, Henderson LB, Forster C, Reed P, McDonald MT, McConkie-Rosell A, Thevenon J, Le Tanno P, Coutton C, Tsai ACH, Stewart S, Maver A, Gorazd R, Pichon O, Nizon M, Cogné B, Isidor B, Martin-Coignard D, Stoeva R, Lefebvre V, Le Caignec C. De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas. Am J Hum Genet. 2020 Jun 4;106(6):830-845. [IF: 3.657].

Abadie V, Hamiaux P, Ragot S, Legendre M, Malecot G, Burtin A, Attie-Bitach T, Lyonnet S, Bilan F, Gilbert-Dussardier B, Vaivre-Douret L. Should autism spectrum disorder be considered part of CHARGE syndrome? A cross-sectional study of 46 patients. Orphanet J Rare Dis. 2020 Jun 3;15(1):136. [IF: 3.523].

Ruault V, Corsini C, Duflos C, Akouete S, Georgescu V, Abaji M, Alembick Y, Alix E, Amiel J, Amouroux C, Barat-Houari M, Baumann C, Bonnard A, Boursier G, Boute O, Burglen L, Busa T, Cordier MP, Cormier-Daire V, Delrue MA, Doray B, Faivre L, Fradin M, Gilbert-Dussardier B, Giuliano F, Goldenberg A, Gorokhova S, Héron D, Isidor B, Jacquemont ML, Jacquette A, Jeandel C, Lacombe D, Le Merrer M, Sang KHLQ, Lyonnet S, Manouvrier S, Michot C, Moncla A, Moutton S, Odent S, Pelet A, Philip N, Pinson L, Reversat J, Roume J, Sanchez E, Sanlaville D, Sarda P, Schaefer E, Till M, Touitou I, Toutain A, Willems M, Gatinois V, Geneviève D. Growth charts in Kabuki syndrome 1. Am J Med Genet A. 2020 Mar;182(3):446-453. [IF: 3.657].

Kvon EZ, Zhu Y, Kelman G, Novak CS, Plajzer-Frick I, Kato M, Garvin TH, Pham Q, Harrington AN, Hunter RD, Godoy J, Meky EM, Akiyama JA, Afzal V, Tran S, Escande F, Gilbert-Dussardier B, Jean-Marçais N, Hudaiberdiev S, Ovcharenko I, Dobbs MB, Gurnett CA, Manouvrier-Hanu S, Petit F, Visel A, Dickel DE, Pennacchio LA. Comprehensive In Vivo Interrogation Reveals Phenotypic Impact of Human Enhancer Variants. Cell. 2020 Mar 19;180(6):1262-1271.e15. [IF: 38.637].

Giraud S, Bardel C, Dupuis-Girod S, Carette MF, Gilbert-Dussardier B, Riviere S, Saurin JC, Eyries M, Patri S, Decullier E, Calender A, Lesca G.Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia. Orphanet J Rare Dis. 2020 Sep 22;15(1):254. [IF: 3.523].

Niclass T, Le Guyader G, Beneteau C, Joubert M, Pizzuti A, Giuffrida MG, Bernardini L, Gilbert-Dussardier B, Bilan F, Egloff M. 12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A. Am J Med Genet A. 2020 Sep;182(9):2133-2138. [IF: 3.657].

Bar C, Barcia G, Jennesson M, Le Guyader G, Schneider A, Mignot C, Lesca G, Breuillard D, Montomoli M, Keren B, Doummar D, Billette de Villemeur T, Afenjar A, Marey I, Gerard M, Isnard H, Poisson A, Dupont S, Berquin P, Meyer P, Genevieve D, De Saint Martin A, El Chehadeh S, Chelly J, Guët A, Scalais E, Dorison N, Myers CT, Mefford HC, Howell KB, Marini C, Freeman JL, Nica A, Terrone G, Sekhara T, Lebre AS, Odent S, Sadleir LG, Munnich A, Guerrini R, Scheffer IE, Kabashi E, Nabbout R. Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature. Hum Mutat. 2020 Jan;41(1):69-80. [IF: 4.124].

Cappuccio G, Sayou C, Tanno PL, Tisserant E, Bruel AL, Kennani SE, Sá J, Low KJ, Dias C, Havlovicová M, Hančárová M, Eichler EE, Devillard F, Moutton S, Van-Gils J, Dubourg C, Odent S, Gerard B, Piton A, Yamamoto T, Okamoto N, Firth H, Metcalfe K, Moh A, Chapman KA, Aref-Eshghi E, Kerkhof J, Torella A, Nigro V, Perrin L, Piard J, Le Guyader G, Jouan T, Thauvin-Robinet C, Duffourd Y, George-Abraham JK, Buchanan CA, Williams D, Kini U, Wilson K; Telethon Undiagnosed Diseases Program, Sousa SB, Hennekam RCM, Sadikovic B, Thevenon J, Govin J, Vitobello A, Brunetti-Pierri N. De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome. Genet Med. 2020 Nov;22(11):1838-1850. [IF: 8.904].

Bar C, Kuchenbuch M, Barcia G, Schneider A, Jennesson M, Le Guyader G, Lesca G, Mignot C, Montomoli M, Parrini E, Isnard H, Rolland A, Keren B, Afenjar A, Dorison N, Sadleir LG, Breuillard D, Levy R, Rio M, Dupont S, Negrin S, Danieli A, Scalais E, De Saint Martin A, El Chehadeh S, Chelly J, Poisson A, Lebre AS, Nica A, Odent S, Sekhara T, Brankovic V, Goldenberg A, Vrielynck P, Lederer D, Maurey H, Terrone G, Besmond C, Hubert L, Berquin P, Billette de Villemeur T, Isidor B, Freeman JL, Mefford HC, Myers CT, Howell KB, Rodríguez-Sacristán Cascajo A, Meyer P, Genevieve D, Guët A, Doummar D, Durigneux J, van Dooren MF, de Wit MCY, Gerard M, Marey I, Munnich A, Guerrini R, Scheffer IE, Kabashi E, Nabbout R.Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome. Epilepsia. 2020 Nov;61(11):2461-2473. [IF: 6.04].

Kleinfinger P, Lohmann L, Luscan A, Trost D, Bidat L, Debarge V, Castaigne V, Senat MV, Brechard MP, Guilbaud L, Le Guyader G, Satre V, Laurichesse Delmas H, Lallaoui H, Manca-Pellissier MC, Boughalem A, Valduga M, Hodeib F, Benachi A, Costa JM.Strategy for Use of Genome-Wide Non-Invasive Prenatal Testing for Rare Autosomal Aneuploidies and Unbalanced Structural Chromosomal Anomalies. J Clin Med. 2020 Aug 1;9(8):2466. [IF: 3.303].

Begemann A, Sticht H, Begtrup A, Vitobello A, Faivre L, Banka S, Alhaddad B, Asadollahi R, Becker J, Bierhals T, Brown KE, Bruel AL, Brunet T, Carneiro M, Cremer K, Day R, Denommé-Pichon AS, Dyment DA, Engels H, Fisher R, Goh ES, Hajianpour MJ, Haertel LRM, Hauer N, Hempel M, Herget T, Johannsen J, Kraus C, Le Guyader G, Lesca G, Mau-Them FT, McDermott JH, McWalter K, Meyer P, Õunap K, Popp B, Reimand T, Riedhammer KM, Russo M, Sadleir LG, Saenz M, Schiff M, Schuler E, Syrbe S, Van der Ven AT, Verloes A, Willems M, Zweier C, Steindl K, Zweier M, Rauch A. New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics. Genet Med. 2020 Nov 5. [IF: 8.904].