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

Year Number of Results
1976 1
1977 1
1978 4
1979 5
1986 2
1988 1
1989 2
1990 5
1991 9
1992 4
1993 5
1995 2
1996 3
1997 1
1999 4
2000 4
2001 3
2002 8
2003 4
2005 2
2006 2
2007 4
2008 4
2009 2
2010 1
2011 6
2012 9
2013 11
2014 16
2015 21
2016 15
2017 10
2018 11
2019 9
2020 7
2021 4
2022 6
2023 8
2024 4
2025 7

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200 results

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Page 1
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts.
Frésard L, Smail C, Ferraro NM, Teran NA, Li X, Smith KS, Bonner D, Kernohan KD, Marwaha S, Zappala Z, Balliu B, Davis JR, Liu B, Prybol CJ, Kohler JN, Zastrow DB, Reuter CM, Fisk DG, Grove ME, Davidson JM, Hartley T, Joshi R, Strober BJ, Utiramerur S; Undiagnosed Diseases Network; Care4Rare Canada Consortium; Lind L, Ingelsson E, Battle A, Bejerano G, Bernstein JA, Ashley EA, Boycott KM, Merker JD, Wheeler MT, Montgomery SB. Frésard L, et al. Nat Med. 2019 Jun;25(6):911-919. doi: 10.1038/s41591-019-0457-8. Epub 2019 Jun 3. Nat Med. 2019. PMID: 31160820 Free PMC article.
Guidelines for the use and interpretation of assays for monitoring autophagy.
Klionsky DJ, Abdalla FC, Abeliovich H, Abraham RT, Acevedo-Arozena A, Adeli K, Agholme L, Agnello M, Agostinis P, Aguirre-Ghiso JA, Ahn HJ, Ait-Mohamed O, Ait-Si-Ali S, Akematsu T, Akira S, Al-Younes HM, Al-Zeer MA, Albert ML, Albin RL, Alegre-Abarrategui J, Aleo MF, Alirezaei M, Almasan A, Almonte-Becerril M, Amano A, Amaravadi R, Amarnath S, Amer AO, Andrieu-Abadie N, Anantharam V, Ann DK, Anoopkumar-Dukie S, Aoki H, Apostolova N, Arancia G, Aris JP, Asanuma K, Asare NY, Ashida H, Askanas V, Askew DS, Auberger P, Baba M, Backues SK, Baehrecke EH, Bahr BA, Bai XY, Bailly Y, Baiocchi R, Baldini G, Balduini W, Ballabio A, Bamber BA, Bampton ET, Bánhegyi G, Bartholomew CR, Bassham DC, Bast RC Jr, Batoko H, Bay BH, Beau I, Béchet DM, Begley TJ, Behl C, Behrends C, Bekri S, Bellaire B, Bendall LJ, Benetti L, Berliocchi L, Bernardi H, Bernassola F, Besteiro S, Bhatia-Kissova I, Bi X, Biard-Piechaczyk M, Blum JS, Boise LH, Bonaldo P, Boone DL, Bornhauser BC, Bortoluci KR, Bossis I, Bost F, Bourquin JP, Boya P, Boyer-Guittaut M, Bozhkov PV, Brady NR, Brancolini C, Brech A, Brenman JE, Brennand A, Bresnick EH, Brest P, Bridges D, Bristol ML, Brookes PS, Brown EJ, Brumell JH, Brunetti-Pier… See abstract for full author list ➔ Klionsky DJ, et al. Among authors: bulman de. Autophagy. 2012 Apr;8(4):445-544. doi: 10.4161/auto.19496. Autophagy. 2012. PMID: 22966490 Free PMC article.
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
Rivière JB, Mirzaa GM, O'Roak BJ, Beddaoui M, Alcantara D, Conway RL, St-Onge J, Schwartzentruber JA, Gripp KW, Nikkel SM, Worthylake T, Sullivan CT, Ward TR, Butler HE, Kramer NA, Albrecht B, Armour CM, Armstrong L, Caluseriu O, Cytrynbaum C, Drolet BA, Innes AM, Lauzon JL, Lin AE, Mancini GM, Meschino WS, Reggin JD, Saggar AK, Lerman-Sagie T, Uyanik G, Weksberg R, Zirn B, Beaulieu CL; Finding of Rare Disease Genes (FORGE) Canada Consortium; Majewski J, Bulman DE, O'Driscoll M, Shendure J, Graham JM Jr, Boycott KM, Dobyns WB. Rivière JB, et al. Among authors: bulman de. Nat Genet. 2012 Jun 24;44(8):934-40. doi: 10.1038/ng.2331. Nat Genet. 2012. PMID: 22729224 Free PMC article.
Association of Plasma Biomarkers With Longitudinal Atrophy and Microvascular Burden on MRI Across Neurodegenerative and Cerebrovascular Diseases.
Sanchez E, Coughlan GT, Wilkinson T, Ramirez J, Mirza SS, Baril AA, Dilliott AA, Frank A, Lang AE, Hassan A, Pollock BG, Scott CJM, Marras C, Fischer CE, Seitz D, Andriuta D, Dowlatshahi D, Grimes DA, Tang-Wai DF, Sahlas DJ, Rogaeva EA, Finger E, Robinson JF, Tan K, Binns MA, Tartaglia MC, Borrie MJ, Strong MJ, Ozzoude M, Nanayakkara ND, Goncalves RA, Bartha R, Hegele RA, Farhan SMK, Black SE, Kumar S, Symons SP, Haddad SMH, Pasternak SH, Arnott SR, Rajji TK, Steeves T, Swardfager W, Ashton NJ, Kvartsberg H, Zetterberg H, Munoz DP, Masellis M; ONDRI Investigators. Sanchez E, et al. Neurology. 2025 Apr 8;104(7):e213438. doi: 10.1212/WNL.0000000000213438. Epub 2025 Mar 10. Neurology. 2025. PMID: 40063856
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.
Huang L, Vanstone MR, Hartley T, Osmond M, Barrowman N, Allanson J, Baker L, Dabir TA, Dipple KM, Dobyns WB, Estrella J, Faghfoury H, Favaro FP, Goel H, Gregersen PA, Gripp KW, Grix A, Guion-Almeida ML, Harr MH, Hudson C, Hunter AG, Johnson J, Joss SK, Kimball A, Kini U, Kline AD, Lauzon J, Lildballe DL, López-González V, Martinezmoles J, Meldrum C, Mirzaa GM, Morel CF, Morton JE, Pyle LC, Quintero-Rivera F, Richer J, Scheuerle AE, Schönewolf-Greulich B, Shears DJ, Silver J, Smith AC, Temple IK; UCLA Clinical Genomics Center; van de Kamp JM, van Dijk FS, Vandersteen AM, White SM, Zackai EH, Zou R; Care4Rare Canada Consortium; Bulman DE, Boycott KM, Lines MA. Huang L, et al. Among authors: bulman de. Hum Mutat. 2016 Feb;37(2):148-54. doi: 10.1002/humu.22924. Epub 2015 Nov 19. Hum Mutat. 2016. PMID: 26507355 Free PMC article. Review.
FGF14 GAA Intronic Expansion in Unsolved Adult-Onset Ataxia in the Care4Rare Canada Consortium.
Cuillerier A, Del Gobbo GF, Mackay L, Wall E, Couse M, McDonell LM, Cloutier M, Danzi MC, Warman-Chardon J, Bourque PR, Suchowersky O, Mears A, Seldenthuis L, Mears W, Larrigan L, White-Brown A, Pfeffer G, Bulman DE, Dyment D; Care4Rare Canada Consortium; Boycott KM. Cuillerier A, et al. Among authors: bulman de. Ann Clin Transl Neurol. 2025 Jun;12(6):1118-1125. doi: 10.1002/acn3.70016. Epub 2025 Apr 7. Ann Clin Transl Neurol. 2025. PMID: 40191983 Free PMC article.
White matter tract correlations with spoken language in cerebrovascular disease.
Broberg DN, Haddad SMH, Aveni K, Havens A, McLaughlin PM, Binns MA, Orange JB, Arnott SR, Berezuk C, Casaubon LK, Dowlatshahi D, Hassan A, Nanayakkara ND, Peltsch AJ, Ramirez J, Saposnik G, Scott CJM, Swartz RH, Symons S, Troyer AK; ONDRI Investigators; Roberts AC, Bartha R. Broberg DN, et al. Brain Commun. 2025 Apr 19;7(3):fcaf145. doi: 10.1093/braincomms/fcaf145. eCollection 2025. Brain Commun. 2025. PMID: 40351387 Free PMC article.
200 results