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Genomic history of the Italian population recapitulates key evolutionary dynamics of both Continental and Southern Europeans.
Sazzini M, Abondio P, Sarno S, Gnecchi-Ruscone GA, Ragno M, Giuliani C, De Fanti S, Ojeda-Granados C, Boattini A, Marquis J, Valsesia A, Carayol J, Raymond F, Pirazzini C, Marasco E, Ferrarini A, Xumerle L, Collino S, Mari D, Arosio B, Monti D, Passarino G, D'Aquila P, Pettener D, Luiselli D, Castellani G, Delledonne M, Descombes P, Franceschi C, Garagnani P. Sazzini M, et al. Among authors: Raymond F. BMC Biol. 2020 May 22;18(1):51. doi: 10.1186/s12915-020-00778-4. BMC Biol. 2020. PMID: 32438927 Free PMC article.
Persistent low body weight in humans is associated with higher mitochondrial activity in white adipose tissue.
Ling Y, Carayol J, Galusca B, Canto C, Montaurier C, Matone A, Vassallo I, Minehira K, Alexandre V, Cominetti O, Núñez Galindo A, Corthésy J, Dayon L, Charpagne A, Métairon S, Raymond F, Descombes P, Casteillo F, Peoc'h M, Palaghiu R, Féasson L, Boirie Y, Estour B, Hager J, Germain N, Gheldof N. Ling Y, et al. Am J Clin Nutr. 2019 Sep 1;110(3):605-616. doi: 10.1093/ajcn/nqz144. Am J Clin Nutr. 2019. PMID: 31374571 Free PMC article.
AMPK promotes induction of the tumor suppressor FLCN through activation of TFEB independently of mTOR.
Collodet C, Foretz M, Deak M, Bultot L, Metairon S, Viollet B, Lefebvre G, Raymond F, Parisi A, Civiletto G, Gut P, Descombes P, Sakamoto K. Collodet C, et al. FASEB J. 2019 Nov;33(11):12374-12391. doi: 10.1096/fj.201900841R. Epub 2019 Aug 19. FASEB J. 2019. PMID: 31404503 Free PMC article.
Bisphenol A binding promiscuity: A virtual journey through the universe of proteins.
Lo Piparo E, Siragusa L, Raymond F, Passeri GI, Cruciani G, Schilter B. Lo Piparo E, et al. ALTEX. 2020;37(1):85-94. doi: 10.14573/altex.1906141. Epub 2019 Nov 8. ALTEX. 2020. PMID: 31707420
Whole-genome sequencing of patients with rare diseases in a national health system.
Turro E, Astle WJ, Megy K, Gräf S, Greene D, Shamardina O, Allen HL, Sanchis-Juan A, Frontini M, Thys C, Stephens J, Mapeta R, Burren OS, Downes K, Haimel M, Tuna S, Deevi SVV, Aitman TJ, Bennett DL, Calleja P, Carss K, Caulfield MJ, Chinnery PF, Dixon PH, Gale DP, James R, Koziell A, Laffan MA, Levine AP, Maher ER, Markus HS, Morales J, Morrell NW, Mumford AD, Ormondroyd E, Rankin S, Rendon A, Richardson S, Roberts I, Roy NBA, Saleem MA, Smith KGC, Stark H, Tan RYY, Themistocleous AC, Thrasher AJ, Watkins H, Webster AR, Wilkins MR, Williamson C, Whitworth J, Humphray S, Bentley DR; NIHR BioResource for the 100,000 Genomes Project, Kingston N, Walker N, Bradley JR, Ashford S, Penkett CJ, Freson K, Stirrups KE, Raymond FL, Ouwehand WH. Turro E, et al. Among authors: Raymond FL. Nature. 2020 Jul;583(7814):96-102. doi: 10.1038/s41586-020-2434-2. Epub 2020 Jun 24. Nature. 2020. PMID: 32581362
Clinical Genomics in Critically Ill Infants and Children.
Raymond FL. Raymond FL. JAMA. 2020 Jun 23;323(24):2480-2482. doi: 10.1001/jama.2020.8112. JAMA. 2020. PMID: 32573653 No abstract available.
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.
Vissers LELM, Kalvakuri S, de Boer E, Geuer S, Oud M, van Outersterp I, Kwint M, Witmond M, Kersten S, Polla DL, Weijers D, Begtrup A, McWalter K, Ruiz A, Gabau E, Morton JEV, Griffith C, Weiss K, Gamble C, Bartley J, Vernon HJ, Brunet K, Ruivenkamp C, Kant SG, Kruszka P, Larson A, Afenjar A, Billette de Villemeur T, Nugent K; DDD Study, Raymond FL, Venselaar H, Demurger F, Soler-Alfonso C, Li D, Bhoj E, Hayes I, Hamilton NP, Ahmad A, Fisher R, van den Born M, Willems M, Sorlin A, Delanne J, Moutton S, Christophe P, Mau-Them FT, Vitobello A, Goel H, Massingham L, Phornphutkul C, Schwab J, Keren B, Charles P, Vreeburg M, De Simone L, Hoganson G, Iascone M, Milani D, Evenepoel L, Revencu N, Ward DI, Burns K, Krantz I, Raible SE, Murrell JR, Wood K, Cho MT, van Bokhoven H, Muenke M, Kleefstra T, Bodmer R, de Brouwer APM. Vissers LELM, et al. Among authors: Raymond FL. Am J Hum Genet. 2020 Jul 2;107(1):164-172. doi: 10.1016/j.ajhg.2020.05.017. Epub 2020 Jun 17. Am J Hum Genet. 2020. PMID: 32553196
Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery JHR, Simeoni I, Rivers E, Maimaris J, Penkett CJ, Stephens J, Deevi SVV, Sanchis-Juan A, Gleadall NS, Thomas MJ, Sargur RB, Gordins P, Baxendale HE, Brown M, Tuijnenburg P, Worth A, Hanson S, Linger RJ, Buckland MS, Rayner-Matthews PJ, Gilmour KC, Samarghitean C, Seneviratne SL, Sansom DM, Lynch AG, Megy K, Ellinghaus E, Ellinghaus D, Jorgensen SF, Karlsen TH, Stirrups KE, Cutler AJ, Kumararatne DS, Chandra A, Edgar JDM, Herwadkar A, Cooper N, Grigoriadou S, Huissoon AP, Goddard S, Jolles S, Schuetz C, Boschann F; Primary Immunodeficiency Consortium for the NIHR Bioresource, Lyons PA, Hurles ME, Savic S, Burns SO, Kuijpers TW, Turro E, Ouwehand WH, Thrasher AJ, Smith KGC. Thaventhiran JED, et al. Nature. 2020 Jul;583(7814):90-95. doi: 10.1038/s41586-020-2265-1. Epub 2020 May 6. Nature. 2020. PMID: 32499645
UltraPrep is a scalable, cost-effective, bead-based method for purifying cell-free DNA.
Raymond CK, Raymond FC, Hill K. Raymond CK, et al. Among authors: Raymond FC. PLoS One. 2020 Jun 1;15(6):e0231854. doi: 10.1371/journal.pone.0231854. eCollection 2020. PLoS One. 2020. PMID: 32479545 Free PMC article.
DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia.
Ng J, Cortès-Saladelafont E, Abela L, Termsarasab P, Mankad K, Sudhakar S, Gorman KM, Heales SJR, Pope S, Biassoni L, Csányi B, Cain J, Rakshi K, Coutts H, Jayawant S, Jefferson R, Hughes D, García-Cazorla À, Grozeva D, Raymond FL, Pérez-Dueñas B, De Goede C, Pearson TS, Meyer E, Kurian MA. Ng J, et al. Among authors: Raymond FL. Mov Disord. 2020 May 30. doi: 10.1002/mds.28063. Online ahead of print. Mov Disord. 2020. PMID: 32472658
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