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Page 1
Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome.
Van der Aa N, Rooms L, Vandeweyer G, van den Ende J, Reyniers E, Fichera M, Romano C, Delle Chiaie B, Mortier G, Menten B, Destrée A, Maystadt I, Männik K, Kurg A, Reimand T, McMullan D, Oley C, Brueton L, Bongers EM, van Bon BW, Pfund R, Jacquemont S, Ferrarini A, Martinet D, Schrander-Stumpel C, Stegmann AP, Frints SG, de Vries BB, Ceulemans B, Kooy RF. Van der Aa N, et al. Among authors: mcmullan d. Eur J Med Genet. 2009 Mar-Jun;52(2-3):94-100. doi: 10.1016/j.ejmg.2009.02.006. Epub 2009 Feb 26. Eur J Med Genet. 2009. PMID: 19249392
Germline ESR2 mutation predisposes to medullary thyroid carcinoma and causes up-regulation of RET expression.
Smith J, Read ML, Hoffman J, Brown R, Bradshaw B, Campbell C, Cole T, Navas JD, Eatock F, Gundara JS, Lian E, Mcmullan D, Morgan NV, Mulligan L, Morrison PJ, Robledo M, Simpson MA, Smith VE, Stewart S, Trembath RC, Sidhu S, Togneri FS, Wake NC, Wallis Y, Watkinson JC, Maher ER, McCabe CJ, Woodward ER. Smith J, et al. Among authors: mcmullan d. Hum Mol Genet. 2016 May 1;25(9):1836-45. doi: 10.1093/hmg/ddw057. Epub 2016 Mar 3. Hum Mol Genet. 2016. PMID: 26945007
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 E, Izat… See abstract for full author list ➔ 100,000 Genomes Project Pilot Investigators, et al. Among authors: mcmullan d. 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.
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study.
Ibañez K, Polke J, Hagelstrom RT, Dolzhenko E, Pasko D, Thomas ERA, Daugherty LC, Kasperaviciute D, Smith KR; WGS for Neurological Diseases Group; Deans ZC, Hill S, Fowler T, Scott RH, Hardy J, Chinnery PF, Houlden H, Rendon A, Caulfield MJ, Eberle MA, Taft RJ, Tucci A; Genomics England Research Consortium. Ibañez K, et al. Lancet Neurol. 2022 Mar;21(3):234-245. doi: 10.1016/S1474-4422(21)00462-2. Lancet Neurol. 2022. PMID: 35182509 Free PMC article.
Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access.
Ellard S, Morgan S, Wynn SL, Walker S, Parrish A, Mein R, Juett A, Ahn JW, Berry I, Cassidy EJ, Durkie M, Fish L, Hall R, Howard E, Rankin J, Wright CF, Deans ZC, Scott RH, Hill SL, Baple EL, Taylor RW; Association for Clinical Genomic Science Rare Disease Position Statement Working Group. Ellard S, et al. J Med Genet. 2024 Nov 25;61(12):1103-1112. doi: 10.1136/jmg-2024-110228. J Med Genet. 2024. PMID: 39327040 Free article.
Definitions of adverse events associated with extracorporeal membrane oxygenation in children: results of an international Delphi process from the ECMO-CENTRAL ARC.
Alexander PMA, Di Nardo M, Combes A, Vogel AM, Antonini MV, Barrett N, Benedetti GM, Bettencourt A, Brodie D, Gómez-Gutiérrez R, Gorga SM, Hodgson C, Kapoor PM, Le J, MacLaren G, O'Neil ER, Ostermann M, Paden ML, Patel N, Rojas-Peña A, Said AS, Sperotto F, Willems A, Vercaemst L, Yoganathan AP, Lorts A, Del Nido PJ, Barbaro RP; Extracorporeal Life Support Organization (ELSO); International ECMO Network (ECMONet); Pediatric Acute Lung Injury and Sepsis Investigators (PALISI); Pediatric ECMO subgroup of PALISI and ELSO (PediECMO); European Society of Paediatric and Neonatal Intensive Care (ESPNIC); Australian and New Zealand Intensive Care Society Paediatric Study Group (ANZICS PSG); Intensive Care Society (ICS); Pediatric Cardiac Intensive Care Society (PCICS); Advanced Cardiac Therapies Improving Outcomes Network (ACTION); Children's Hospitals Neonatal Consortium (CHNC); American Pediatric Surgical Association (APSA); Society of Thoracic Surgeons (STS); Society of Critical Care Medicine (SCCM). Alexander PMA, et al. Lancet Child Adolesc Health. 2024 Oct;8(10):773-780. doi: 10.1016/S2352-4642(24)00132-9. Lancet Child Adolesc Health. 2024. PMID: 39299748 Review.
The Influence of the Extracorporeal Membrane Oxygenation Circuit and Components on Anticoagulation Management: The Pediatric Extracorporeal Membrane Oxygenation Anticoagulation CollaborativE Consensus Conference.
Himebauch AS, Priest JR, Annich GM, McMullan DM, Turner DA, Muszynski JA, Alexander PMA, Paden ML, Gehred A, Lyman E, Said AS; Pediatric Extracorporeal Membrane Oxygenation (ECMO) Anticoagulation CollaborativE (PEACE), in collaboration with the Pediatric Acute Lung Injury and Sepsis Investigators (PALISI) Network, the Pediatric Critical Care Blood Research Network (BloodNet), and the Pediatric ECMO subgroup of PALISI and the Extracorporeal Life Support Organization (PediECMO). Himebauch AS, et al. Among authors: mcmullan dm. Pediatr Crit Care Med. 2024 Jul 1;25(7 Suppl 1):e1-e6. doi: 10.1097/PCC.0000000000003496. Epub 2024 Jul 3. Pediatr Crit Care Med. 2024. PMID: 38959354 Free PMC article.
Executive Summary: The Pediatric Extracorporeal Membrane Oxygenation Anticoagulation CollaborativE (PEACE) Consensus Conference.
Alexander PMA, Bembea MM, Cashen K, Cheifetz IM, Dalton HJ, Himebauch AS, Karam O, Moynihan KM, Nellis ME, Ozment C, Raman L, Rintoul NE, Said AS, Saini A, Steiner ME, Thiagarajan RR, Watt K, Willems A, Zantek ND, Barbaro RP, Steffen K, Vogel AM, Almond C, Anders MM, Annich GM, Brandão LR, Chandler W, Delaney M, DiGeronimo R, Emani S, Gadepalli SK, Garcia AV, Haileselassie B, Hyslop R, Kneyber MCJ, Baumann Kreuziger L, Le J, Loftis L, McMichael ABV, McMullan DM, Monagle P, Nicol K, Paden ML, Patregnani J, Priest J, Raffini L, Ryerson LM, Sloan SR, Teruya J, Yates AR, Gehred A, Lyman E, Muszynski JA; Pediatric ECMO Anticoagulation CollaborativE (PEACE), in collaboration with the Pediatric Acute Lung Injury and Sepsis Investigators (PALISI) Network, the Pediatric Critical Care Blood Research Network (BloodNet), and the Pediatric ECMO subgroup of PALISI and the Extracorporeal Life Support Organization (PediECMO). Alexander PMA, et al. Among authors: mcmullan dm. Pediatr Crit Care Med. 2024 Jul 1;25(7):643-675. doi: 10.1097/PCC.0000000000003480. Epub 2024 Jul 3. Pediatr Crit Care Med. 2024. PMID: 38959353 Free PMC article.
323 results