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

Year Number of Results
1992 1
1993 1
1994 1
1995 3
1996 4
1997 2
1998 1
1999 2
2000 3
2001 3
2002 5
2003 8
2004 4
2005 10
2006 8
2007 13
2008 18
2009 20
2010 16
2011 17
2012 16
2013 12
2014 12
2015 15
2016 19
2017 10
2018 14
2019 16
2020 17
2021 19
2022 16
2023 12
2024 14

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293 results

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Page 1
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. 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.
Development of the Pituitary Gland.
Alatzoglou KS, Gregory LC, Dattani MT. Alatzoglou KS, et al. Among authors: dattani mt. Compr Physiol. 2020 Mar 12;10(2):389-413. doi: 10.1002/cphy.c150043. Compr Physiol. 2020. PMID: 32163208 Review.
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
100,000 Genomes Project Pilot Investigators; Smedley D, Smith KR, Martin A, Thomas EA, McDonagh EM, Cipriani V, Ellingford JM, Arno G, Tucci A, Vandrovcova J, Chan G, Williams HJ, Ratnaike T, Wei W, Stirrups K, Ibanez K, Moutsianas L, Wielscher M, Need A, Barnes MR, Vestito L, Buchanan J, Wordsworth S, Ashford S, Rehmström K, Li E, Fuller G, Twiss P, Spasic-Boskovic O, Halsall S, Floto RA, Poole K, Wagner A, Mehta SG, Gurnell M, Burrows N, James R, Penkett C, Dewhurst E, Gräf S, Mapeta R, Kasanicki M, Haworth A, Savage H, Babcock M, Reese MG, Bale M, Baple E, Boustred C, Brittain H, de Burca A, Bleda M, Devereau A, Halai D, Haraldsdottir E, Hyder Z, Kasperaviciute D, Patch C, Polychronopoulos D, Matchan A, Sultana R, Ryten M, Tavares ALT, Tregidgo C, Turnbull C, Welland M, Wood S, Snow C, Williams E, Leigh S, Foulger RE, Daugherty LC, Niblock O, Leong IUS, Wright CF, Davies J, Crichton C, Welch J, Woods K, Abulhoul L, Aurora P, Bockenhauer D, Broomfield A, Cleary MA, Lam T, Dattani M, Footitt E, Ganesan V, Grunewald S, Compeyrot-Lacassagne S, Muntoni F, Pilkington C, Quinlivan R, Thapar N, Wallis C, Wedderburn LR, Worth A, Bueser T, Compton C, Deshpande C, Fassihi H, Haque … See abstract for full author list ➔ 100,000 Genomes Project Pilot Investigators, et al. Among authors: dattani m. N Engl J Med. 2021 Nov 11;385(20):1868-1880. doi: 10.1056/NEJMoa2035790. N Engl J Med. 2021. PMID: 34758253 Free PMC article.
Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment.
Boehm U, Bouloux PM, Dattani MT, de Roux N, Dodé C, Dunkel L, Dwyer AA, Giacobini P, Hardelin JP, Juul A, Maghnie M, Pitteloud N, Prevot V, Raivio T, Tena-Sempere M, Quinton R, Young J. Boehm U, et al. Among authors: dattani mt. Nat Rev Endocrinol. 2015 Sep;11(9):547-64. doi: 10.1038/nrendo.2015.112. Epub 2015 Jul 21. Nat Rev Endocrinol. 2015. PMID: 26194704 Review.
Guidelines for the management of glucocorticoids during the peri-operative period for patients with adrenal insufficiency: Guidelines from the Association of Anaesthetists, the Royal College of Physicians and the Society for Endocrinology UK.
Woodcock T, Barker P, Daniel S, Fletcher S, Wass JAH, Tomlinson JW, Misra U, Dattani M, Arlt W, Vercueil A. Woodcock T, et al. Among authors: dattani m. Anaesthesia. 2020 May;75(5):654-663. doi: 10.1111/anae.14963. Epub 2020 Feb 3. Anaesthesia. 2020. PMID: 32017012 Free article. Review.
Phase 3 Trial of Crinecerfont in Pediatric Congenital Adrenal Hyperplasia.
Sarafoglou K, Kim MS, Lodish M, Felner EI, Martinerie L, Nokoff NJ, Clemente M, Fechner PY, Vogiatzi MG, Speiser PW, Auchus RJ, Rosales GBG, Roberts E, Jeha GS, Farber RH, Chan JL; CAHtalyst Pediatric Trial Investigators. Sarafoglou K, et al. N Engl J Med. 2024 Aug 8;391(6):493-503. doi: 10.1056/NEJMoa2404655. Epub 2024 Jun 2. N Engl J Med. 2024. PMID: 38828945 Clinical Trial.
293 results