Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

My NCBI Filters
Results by year

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

Year Number of Results
1984 1
1985 2
1986 5
1987 7
1988 8
1989 5
1990 4
1991 5
1992 6
1993 9
1994 10
1995 9
1996 13
1997 16
1998 7
1999 14
2000 13
2001 19
2002 16
2003 20
2004 15
2005 24
2006 24
2007 16
2008 22
2009 30
2010 37
2011 24
2012 21
2013 33
2014 27
2015 15
2016 21
2017 12
2018 12
2019 13
2020 14
2021 22
2022 15
Text availability
Article attribute
Article type
Publication date

Search Results

537 results
Results by year
Filters applied: . Clear all
Page 1
Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.
Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, Boonen SE, Cole T, Baker R, Bertoletti M, Cocchi G, Coze C, De Pellegrin M, Hussain K, Ibrahim A, Kilby MD, Krajewska-Walasek M, Kratz CP, Ladusans EJ, Lapunzina P, Le Bouc Y, Maas SM, Macdonald F, Õunap K, Peruzzi L, Rossignol S, Russo S, Shipster C, Skórka A, Tatton-Brown K, Tenorio J, Tortora C, Grønskov K, Netchine I, Hennekam RC, Prawitt D, Tümer Z, Eggermann T, Mackay DJG, Riccio A, Maher ER. Brioude F, et al. Among authors: maher er. Nat Rev Endocrinol. 2018 Apr;14(4):229-249. doi: 10.1038/nrendo.2017.166. Epub 2018 Jan 29. Nat Rev Endocrinol. 2018. PMID: 29377879 Free PMC article. Review.
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: maher er. Nature. 2020 Jul;583(7814):96-102. doi: 10.1038/s41586-020-2434-2. Epub 2020 Jun 24. Nature. 2020. PMID: 32581362 Free PMC article.
VHL, the story of a tumour suppressor gene.
Gossage L, Eisen T, Maher ER. Gossage L, et al. Among authors: maher er. Nat Rev Cancer. 2015 Jan;15(1):55-64. doi: 10.1038/nrc3844. Nat Rev Cancer. 2015. PMID: 25533676 Review.
Predisposition to cancer in children and adolescents.
Kratz CP, Jongmans MC, Cavé H, Wimmer K, Behjati S, Guerrini-Rousseau L, Milde T, Pajtler KW, Golmard L, Gauthier-Villars M, Jewell R, Duncan C, Maher ER, Brugieres L, Pritchard-Jones K, Bourdeaut F. Kratz CP, et al. Among authors: maher er. Lancet Child Adolesc Health. 2021 Feb;5(2):142-154. doi: 10.1016/S2352-4642(20)30275-3. Lancet Child Adolesc Health. 2021. PMID: 33484663 Review.
Hypoxia, Hypoxia-inducible Transcription Factors, and Renal Cancer.
Schödel J, Grampp S, Maher ER, Moch H, Ratcliffe PJ, Russo P, Mole DR. Schödel J, et al. Among authors: maher er. Eur Urol. 2016 Apr;69(4):646-657. doi: 10.1016/j.eururo.2015.08.007. Epub 2015 Aug 19. Eur Urol. 2016. PMID: 26298207 Free PMC article. Review.
Birt-Hogg-Dubé syndrome: diagnosis and management.
Menko FH, van Steensel MA, Giraud S, Friis-Hansen L, Richard S, Ungari S, Nordenskjöld M, Hansen TV, Solly J, Maher ER; European BHD Consortium. Menko FH, et al. Among authors: maher er. Lancet Oncol. 2009 Dec;10(12):1199-206. doi: 10.1016/S1470-2045(09)70188-3. Lancet Oncol. 2009. PMID: 19959076 Review.
Germline selection shapes human mitochondrial DNA diversity.
Wei W, Tuna S, Keogh MJ, Smith KR, Aitman TJ, Beales PL, Bennett DL, Gale DP, Bitner-Glindzicz MAK, Black GC, Brennan P, Elliott P, Flinter FA, Floto RA, Houlden H, Irving M, Koziell A, Maher ER, Markus HS, Morrell NW, Newman WG, Roberts I, Sayer JA, Smith KGC, Taylor JC, Watkins H, Webster AR, Wilkie AOM, Williamson C; NIHR BioResource–Rare Diseases; 100,000 Genomes Project–Rare Diseases Pilot, Ashford S, Penkett CJ, Stirrups KE, Rendon A, Ouwehand WH, Bradley JR, Raymond FL, Caulfield M, Turro E, Chinnery PF. Wei W, et al. Among authors: maher er. Science. 2019 May 24;364(6442):eaau6520. doi: 10.1126/science.aau6520. Epub 2019 May 23. Science. 2019. PMID: 31123110 Free article.
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.
Lord J, McMullan DJ, Eberhardt RY, Rinck G, Hamilton SJ, Quinlan-Jones E, Prigmore E, Keelagher R, Best SK, Carey GK, Mellis R, Robart S, Berry IR, Chandler KE, Cilliers D, Cresswell L, Edwards SL, Gardiner C, Henderson A, Holden ST, Homfray T, Lester T, Lewis RA, Newbury-Ecob R, Prescott K, Quarrell OW, Ramsden SC, Roberts E, Tapon D, Tooley MJ, Vasudevan PC, Weber AP, Wellesley DG, Westwood P, White H, Parker M, Williams D, Jenkins L, Scott RH, Kilby MD, Chitty LS, Hurles ME, Maher ER; Prenatal Assessment of Genomes and Exomes Consortium. Lord J, et al. Among authors: maher er. Lancet. 2019 Feb 23;393(10173):747-757. doi: 10.1016/S0140-6736(18)31940-8. Epub 2019 Jan 31. Lancet. 2019. PMID: 30712880 Free PMC article.
537 results