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Year Number of Results
2002 1
2004 1
2005 1
2006 1
2007 1
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2012 2
2013 1
2014 3
2015 3
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2017 4
2018 10
2019 11
2020 18
2021 9
2022 16
2023 17
2024 9

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102 results

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Page 1
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: li e. 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.
Mortality, In-Hospital Morbidity, Care Practices, and 2-Year Outcomes for Extremely Preterm Infants in the US, 2013-2018.
Bell EF, Hintz SR, Hansen NI, Bann CM, Wyckoff MH, DeMauro SB, Walsh MC, Vohr BR, Stoll BJ, Carlo WA, Van Meurs KP, Rysavy MA, Patel RM, Merhar SL, Sánchez PJ, Laptook AR, Hibbs AM, Cotten CM, D'Angio CT, Winter S, Fuller J, Das A; Eunice Kennedy Shriver National Institute of Child Health and Human Development Neonatal Research Network. Bell EF, et al. JAMA. 2022 Jan 18;327(3):248-263. doi: 10.1001/jama.2021.23580. JAMA. 2022. PMID: 35040888 Free PMC article.
Hydrocortisone to Improve Survival without Bronchopulmonary Dysplasia.
Watterberg KL, Walsh MC, Li L, Chawla S, D'Angio CT, Goldberg RN, Hintz SR, Laughon MM, Yoder BA, Kennedy KA, McDavid GE, Backstrom-Lacy C, Das A, Crawford MM, Keszler M, Sokol GM, Poindexter BB, Ambalavanan N, Hibbs AM, Truog WE, Schmidt B, Wyckoff MH, Khan AM, Garg M, Chess PR, Reynolds AM, Moallem M, Bell EF, Meyer LR, Patel RM, Van Meurs KP, Cotten CM, McGowan EC, Hines AC, Merhar S, Peralta-Carcelen M, Wilson-Costello DE, Kilbride HW, DeMauro SB, Heyne RJ, Mosquera RA, Natarajan G, Purdy IB, Lowe JR, Maitre NL, Harmon HM, Hogden LA, Adams-Chapman I, Winter S, Malcolm WF, Higgins RD; Eunice Kennedy Shriver NICHD Neonatal Research Network. Watterberg KL, et al. N Engl J Med. 2022 Mar 24;386(12):1121-1131. doi: 10.1056/NEJMoa2114897. N Engl J Med. 2022. PMID: 35320643 Free PMC article. Clinical Trial.
Thyroid Eye Disease.
Rashad R, Pinto R, Li E, Sohrab M, Distefano AG. Rashad R, et al. Among authors: li e. Life (Basel). 2022 Dec 12;12(12):2084. doi: 10.3390/life12122084. Life (Basel). 2022. PMID: 36556449 Free PMC article. Review.
Higher or Lower Hemoglobin Transfusion Thresholds for Preterm Infants.
Kirpalani H, Bell EF, Hintz SR, Tan S, Schmidt B, Chaudhary AS, Johnson KJ, Crawford MM, Newman JE, Vohr BR, Carlo WA, D'Angio CT, Kennedy KA, Ohls RK, Poindexter BB, Schibler K, Whyte RK, Widness JA, Zupancic JAF, Wyckoff MH, Truog WE, Walsh MC, Chock VY, Laptook AR, Sokol GM, Yoder BA, Patel RM, Cotten CM, Carmen MF, Devaskar U, Chawla S, Seabrook R, Higgins RD, Das A; Eunice Kennedy Shriver NICHD Neonatal Research Network. Kirpalani H, et al. N Engl J Med. 2020 Dec 31;383(27):2639-2651. doi: 10.1056/NEJMoa2020248. N Engl J Med. 2020. PMID: 33382931 Free PMC article. Clinical Trial.
Diseases of the Eyelids and Orbit.
Li E, Chambers CB. Li E, et al. Med Clin North Am. 2021 May;105(3):551-562. doi: 10.1016/j.mcna.2021.02.007. Epub 2021 Apr 2. Med Clin North Am. 2021. PMID: 33926646 Review.
Maternal and Newborn Hospital Outcomes of Perinatal SARS-CoV-2 Infection: A National Registry.
Hudak ML, Flannery DD, Barnette K, Getzlaff T, Gautam S, Dhudasia MB, Mukhopadhyay S, Pfeifer MR, Ellington SR, Galang RR, Snead MC, Woodworth KR, Zapata LB, Puopolo KM; AMERICAN ACADEMY OF PEDIATRICS NPC-19 REGISTRY INVESTIGATORS. Hudak ML, et al. Pediatrics. 2023 Feb 1;151(2):e2022059595. doi: 10.1542/peds.2022-059595. Pediatrics. 2023. PMID: 36995183
Brain injury in COVID-19 is associated with dysregulated innate and adaptive immune responses.
Needham EJ, Ren AL, Digby RJ, Norton EJ, Ebrahimi S, Outtrim JG, Chatfield DA, Manktelow AE, Leibowitz MM, Newcombe VFJ, Doffinger R, Barcenas-Morales G, Fonseca C, Taussig MJ, Burnstein RM, Samanta RJ, Dunai C, Sithole N, Ashton NJ, Zetterberg H, Gisslén M, Edén A, Marklund E, Openshaw PJM, Dunning J, Griffiths MJ, Cavanagh J, Breen G, Irani SR, Elmer A, Kingston N, Summers C, Bradley JR, Taams LS, Michael BD, Bullmore ET, Smith KGC, Lyons PA, Coles AJ, Menon DK; Cambridge NeuroCOVID Group; CITIID-NIHR COVID-19 BioResource Collaboration; Cambridge NIHR Clinical Research Facility. Needham EJ, et al. Brain. 2022 Nov 21;145(11):4097-4107. doi: 10.1093/brain/awac321. Brain. 2022. PMID: 36065116 Free PMC article.
102 results