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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1953 1
1959 1
1961 1
1965 1
1968 1
1969 1
1971 1
1972 5
1973 3
1974 7
1975 7
1976 9
1977 4
1978 5
1979 2
1980 1
1981 2
1982 3
1983 7
1984 5
1985 5
1986 4
1987 9
1988 2
1989 10
1990 15
1991 17
1992 21
1993 28
1994 22
1995 14
1996 13
1997 11
1998 14
1999 26
2000 19
2001 15
2002 19
2003 27
2004 28
2005 23
2006 27
2007 39
2008 31
2009 44
2010 48
2011 46
2012 49
2013 41
2014 65
2015 48
2016 51
2017 58
2018 60
2019 57
2020 57
2021 17
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Search Results

1,027 results
Results by year
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Page 1
Synaptic, transcriptional and chromatin genes disrupted in autism.
De Rubeis S, He X, Goldberg AP, Poultney CS, Samocha K, Cicek AE, Kou Y, Liu L, Fromer M, Walker S, Singh T, Klei L, Kosmicki J, Shih-Chen F, Aleksic B, Biscaldi M, Bolton PF, Brownfeld JM, Cai J, Campbell NG, Carracedo A, Chahrour MH, Chiocchetti AG, Coon H, Crawford EL, Curran SR, Dawson G, Duketis E, Fernandez BA, Gallagher L, Geller E, Guter SJ, Hill RS, Ionita-Laza J, Jimenz Gonzalez P, Kilpinen H, Klauck SM, Kolevzon A, Lee I, Lei I, Lei J, Lehtimäki T, Lin CF, Ma'ayan A, Marshall CR, McInnes AL, Neale B, Owen MJ, Ozaki N, Parellada M, Parr JR, Purcell S, Puura K, Rajagopalan D, Rehnström K, Reichenberg A, Sabo A, Sachse M, Sanders SJ, Schafer C, Schulte-Rüther M, Skuse D, Stevens C, Szatmari P, Tammimies K, Valladares O, Voran A, Li-San W, Weiss LA, Willsey AJ, Yu TW, Yuen RK; DDD Study; Homozygosity Mapping Collaborative for Autism; UK10K Consortium, Cook EH, Freitag CM, Gill M, Hultman CM, Lehner T, Palotie A, Schellenberg GD, Sklar P, State MW, Sutcliffe JS, Walsh CA, Scherer SW, Zwick ME, Barett JC, Cutler DJ, Roeder K, Devlin B, Daly MJ, Buxbaum JD. De Rubeis S, et al. Among authors: fernandez ba. Nature. 2014 Nov 13;515(7526):209-15. doi: 10.1038/nature13772. Epub 2014 Oct 29. Nature. 2014. PMID: 25363760 Free PMC article.
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
C Yuen RK, Merico D, Bookman M, L Howe J, Thiruvahindrapuram B, Patel RV, Whitney J, Deflaux N, Bingham J, Wang Z, Pellecchia G, Buchanan JA, Walker S, Marshall CR, Uddin M, Zarrei M, Deneault E, D'Abate L, Chan AJ, Koyanagi S, Paton T, Pereira SL, Hoang N, Engchuan W, Higginbotham EJ, Ho K, Lamoureux S, Li W, MacDonald JR, Nalpathamkalam T, Sung WW, Tsoi FJ, Wei J, Xu L, Tasse AM, Kirby E, Van Etten W, Twigger S, Roberts W, Drmic I, Jilderda S, Modi BM, Kellam B, Szego M, Cytrynbaum C, Weksberg R, Zwaigenbaum L, Woodbury-Smith M, Brian J, Senman L, Iaboni A, Doyle-Thomas K, Thompson A, Chrysler C, Leef J, Savion-Lemieux T, Smith IM, Liu X, Nicolson R, Seifer V, Fedele A, Cook EH, Dager S, Estes A, Gallagher L, Malow BA, Parr JR, Spence SJ, Vorstman J, Frey BJ, Robinson JT, Strug LJ, Fernandez BA, Elsabbagh M, Carter MT, Hallmayer J, Knoppers BM, Anagnostou E, Szatmari P, Ring RH, Glazer D, Pletcher MT, Scherer SW. C Yuen RK, et al. Among authors: fernandez ba. Nat Neurosci. 2017 Apr;20(4):602-611. doi: 10.1038/nn.4524. Epub 2017 Mar 6. Nat Neurosci. 2017. PMID: 28263302 Free PMC article.
Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond.
Hansford S, Kaurah P, Li-Chang H, Woo M, Senz J, Pinheiro H, Schrader KA, Schaeffer DF, Shumansky K, Zogopoulos G, Santos TA, Claro I, Carvalho J, Nielsen C, Padilla S, Lum A, Talhouk A, Baker-Lange K, Richardson S, Lewis I, Lindor NM, Pennell E, MacMillan A, Fernandez B, Keller G, Lynch H, Shah SP, Guilford P, Gallinger S, Corso G, Roviello F, Caldas C, Oliveira C, Pharoah PD, Huntsman DG. Hansford S, et al. Among authors: fernandez b. JAMA Oncol. 2015 Apr;1(1):23-32. doi: 10.1001/jamaoncol.2014.168. JAMA Oncol. 2015. PMID: 26182300 Free article.
Al amyloidosis.
Desport E, Bridoux F, Sirac C, Delbes S, Bender S, Fernandez B, Quellard N, Lacombe C, Goujon JM, Lavergne D, Abraham J, Touchard G, Fermand JP, Jaccard A; Centre national de référence pour l’amylose AL et les autres maladies par dépôts d’immunoglobulines monoclonales. Desport E, et al. Among authors: fernandez b. Orphanet J Rare Dis. 2012 Aug 21;7:54. doi: 10.1186/1750-1172-7-54. Orphanet J Rare Dis. 2012. PMID: 22909024 Free PMC article. Review.
Genome-wide detection of tandem DNA repeats that are expanded in autism.
Trost B, Engchuan W, Nguyen CM, Thiruvahindrapuram B, Dolzhenko E, Backstrom I, Mirceta M, Mojarad BA, Yin Y, Dov A, Chandrakumar I, Prasolava T, Shum N, Hamdan O, Pellecchia G, Howe JL, Whitney J, Klee EW, Baheti S, Amaral DG, Anagnostou E, Elsabbagh M, Fernandez BA, Hoang N, Lewis MES, Liu X, Sjaarda C, Smith IM, Szatmari P, Zwaigenbaum L, Glazer D, Hartley D, Stewart AK, Eberle MA, Sato N, Pearson CE, Scherer SW, Yuen RKC. Trost B, et al. Among authors: fernandez ba. Nature. 2020 Oct;586(7827):80-86. doi: 10.1038/s41586-020-2579-z. Epub 2020 Jul 27. Nature. 2020. PMID: 32717741
Blueberries improve biomarkers of cardiometabolic function in participants with metabolic syndrome-results from a 6-month, double-blind, randomized controlled trial.
Curtis PJ, van der Velpen V, Berends L, Jennings A, Feelisch M, Umpleby AM, Evans M, Fernandez BO, Meiss MS, Minnion M, Potter J, Minihane AM, Kay CD, Rimm EB, Cassidy A. Curtis PJ, et al. Among authors: fernandez bo. Am J Clin Nutr. 2019 Jun 1;109(6):1535-1545. doi: 10.1093/ajcn/nqy380. Am J Clin Nutr. 2019. PMID: 31136659 Free PMC article. Clinical Trial.
Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.
Sawyer SL, Hartley T, Dyment DA, Beaulieu CL, Schwartzentruber J, Smith A, Bedford HM, Bernard G, Bernier FP, Brais B, Bulman DE, Warman Chardon J, Chitayat D, Deladoëy J, Fernandez BA, Frosk P, Geraghty MT, Gerull B, Gibson W, Gow RM, Graham GE, Green JS, Heon E, Horvath G, Innes AM, Jabado N, Kim RH, Koenekoop RK, Khan A, Lehmann OJ, Mendoza-Londono R, Michaud JL, Nikkel SM, Penney LS, Polychronakos C, Richer J, Rouleau GA, Samuels ME, Siu VM, Suchowersky O, Tarnopolsky MA, Yoon G, Zahir FR; FORGE Canada Consortium; Care4Rare Canada Consortium, Majewski J, Boycott KM. Sawyer SL, et al. Among authors: fernandez ba. Clin Genet. 2016 Mar;89(3):275-84. doi: 10.1111/cge.12654. Epub 2015 Sep 22. Clin Genet. 2016. PMID: 26283276 Free PMC article. Review.
LRRK2 and Parkinson's Disease: From Lack of Structure to Gain of Function.
Blanca Ramírez M, Madero-Perez J, Rivero-Rios P, Martinez-Salvador M, Lara Ordonez AJ, Fernandez B, Fdez E, Hilfiker S. Blanca Ramírez M, et al. Among authors: fernandez b. Curr Protein Pept Sci. 2017;18(7):677-686. doi: 10.2174/1389203717666160311121748. Curr Protein Pept Sci. 2017. PMID: 26965688 Review.
Metabolic basis to Sherpa altitude adaptation.
Horscroft JA, Kotwica AO, Laner V, West JA, Hennis PJ, Levett DZH, Howard DJ, Fernandez BO, Burgess SL, Ament Z, Gilbert-Kawai ET, Vercueil A, Landis BD, Mitchell K, Mythen MG, Branco C, Johnson RS, Feelisch M, Montgomery HE, Griffin JL, Grocott MPW, Gnaiger E, Martin DS, Murray AJ. Horscroft JA, et al. Among authors: fernandez bo. Proc Natl Acad Sci U S A. 2017 Jun 13;114(24):6382-6387. doi: 10.1073/pnas.1700527114. Epub 2017 May 22. Proc Natl Acad Sci U S A. 2017. PMID: 28533386 Free PMC article.
Agrin induces long-term osteochondral regeneration by supporting repair morphogenesis.
Eldridge SE, Barawi A, Wang H, Roelofs AJ, Kaneva M, Guan Z, Lydon H, Thomas BL, Thorup AS, Fernandez BF, Caxaria S, Strachan D, Ali A, Shanmuganathan K, Pitzalis C, Whiteford JR, Henson F, McCaskie AW, De Bari C, Dell'Accio F. Eldridge SE, et al. Among authors: fernandez bf. Sci Transl Med. 2020 Sep 2;12(559):eaax9086. doi: 10.1126/scitranslmed.aax9086. Sci Transl Med. 2020. PMID: 32878982
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