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Items: 1 to 20 of 70

1.

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.

Whitworth J, Smith PS, Martin JE, West H, Luchetti A, Rodger F, Clark G, Carss K, Stephens J, Stirrups K, Penkett C, Mapeta R, Ashford S, Megy K, Shakeel H, Ahmed M, Adlard J, Barwell J, Brewer C, Casey RT, Armstrong R, Cole T, Evans DG, Fostira F, Greenhalgh L, Hanson H, Henderson A, Hoffman J, Izatt L, Kumar A, Kwong A, Lalloo F, Ong KR, Paterson J, Park SM, Chen-Shtoyerman R, Searle C, Side L, Skytte AB, Snape K, Woodward ER; NIHR BioResource Rare Diseases Consortium, Tischkowitz MD, Maher ER.

Am J Hum Genet. 2018 Jun 12. pii: S0002-9297(18)30160-5. doi: 10.1016/j.ajhg.2018.04.013. [Epub ahead of print]

2.

Neurologic outcomes in pediatric cardiac arrest survivors enrolled in the THAPCA trials.

Ichord R, Silverstein FS, Slomine BS, Telford R, Christensen J, Holubkov R, Dean JM, Moler FW; THAPCA Trial Group.

Neurology. 2018 Jun 8. pii: 10.1212/WNL.0000000000005773. doi: 10.1212/WNL.0000000000005773. [Epub ahead of print]

PMID:
29884735
3.

Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.

Gräf S, Haimel M, Bleda M, Hadinnapola C, Southgate L, Li W, Hodgson J, Liu B, Salmon RM, Southwood M, Machado RD, Martin JM, Treacy CM, Yates K, Daugherty LC, Shamardina O, Whitehorn D, Holden S, Aldred M, Bogaard HJ, Church C, Coghlan G, Condliffe R, Corris PA, Danesino C, Eyries M, Gall H, Ghio S, Ghofrani HA, Gibbs JSR, Girerd B, Houweling AC, Howard L, Humbert M, Kiely DG, Kovacs G, MacKenzie Ross RV, Moledina S, Montani D, Newnham M, Olschewski A, Olschewski H, Peacock AJ, Pepke-Zaba J, Prokopenko I, Rhodes CJ, Scelsi L, Seeger W, Soubrier F, Stein DF, Suntharalingam J, Swietlik EM, Toshner MR, van Heel DA, Vonk Noordegraaf A, Waisfisz Q, Wharton J, Wort SJ, Ouwehand WH, Soranzo N, Lawrie A, Upton PD, Wilkins MR, Trembath RC, Morrell NW.

Nat Commun. 2018 Apr 12;9(1):1416. doi: 10.1038/s41467-018-03672-4.

4.

Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans.

Tuijnenburg P, Lango Allen H, Burns SO, Greene D, Jansen MH, Staples E, Stephens J, Carss KJ, Biasci D, Baxendale H, Thomas M, Chandra A, Kiani-Alikhan S, Longhurst HJ, Seneviratne SL, Oksenhendler E, Simeoni I, de Bree GJ, Tool ATJ, van Leeuwen EMM, Ebberink EHTM, Meijer AB, Tuna S, Whitehorn D, Brown M, Turro E, Thrasher AJ, Smith KGC, Thaventhiran JE, Kuijpers TW; NIHR BioResource–Rare Diseases Consortium.

J Allergy Clin Immunol. 2018 Mar 2. pii: S0091-6749(18)30286-0. doi: 10.1016/j.jaci.2018.01.039. [Epub ahead of print]

5.

Hemoglobin Levels Across the Pediatric Critical Care Spectrum: A Point Prevalence Study.

Hassan NE, Reischman DE, Fitzgerald RK, Faustino EVS; Prophylaxis Against Thrombosis Practice (PROTRACT) Study Investigators and the Pediatric Acute Lung Injury and Sepsis Investigators (PALISI)/BloodNet Investigators.

Pediatr Crit Care Med. 2018 May;19(5):e227-e234. doi: 10.1097/PCC.0000000000001467.

PMID:
29384892
6.

Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data.

Farmery JHR, Smith ML; NIHR BioResource - Rare Diseases, Lynch AG.

Sci Rep. 2018 Jan 22;8(1):1300. doi: 10.1038/s41598-017-14403-y.

7.

Cytokine Profiles of Severe Influenza Virus-Related Complications in Children.

Fiore-Gartland A, Panoskaltsis-Mortari A, Agan AA, Mistry AJ, Thomas PG, Matthay MA; PALISI PICFlu Investigators, Hertz T, Randolph AG.

Front Immunol. 2017 Nov 6;8:1423. doi: 10.3389/fimmu.2017.01423. eCollection 2017.

8.

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension.

Hadinnapola C, Bleda M, Haimel M, Screaton N, Swift A, Dorfmüller P, Preston SD, Southwood M, Hernandez-Sanchez J, Martin J, Treacy C, Yates K, Bogaard H, Church C, Coghlan G, Condliffe R, Corris PA, Gibbs S, Girerd B, Holden S, Humbert M, Kiely DG, Lawrie A, Machado R, MacKenzie Ross R, Moledina S, Montani D, Newnham M, Peacock A, Pepke-Zaba J, Rayner-Matthews P, Shamardina O, Soubrier F, Southgate L, Suntharalingam J, Toshner M, Trembath R, Vonk Noordegraaf A, Wilkins MR, Wort SJ, Wharton J; NIHR BioResource–Rare Diseases Consortium; UK National Cohort Study of Idiopathic and Heritable PAH, Gräf S, Morrell NW.

Circulation. 2017 Nov 21;136(21):2022-2033. doi: 10.1161/CIRCULATIONAHA.117.028351. Epub 2017 Sep 28.

9.

Evaluation of IFITM3 rs12252 Association With Severe Pediatric Influenza Infection.

Randolph AG, Yip WK, Allen EK, Rosenberger CM, Agan AA, Ash SA, Zhang Y, Bhangale TR, Finkelstein D, Cvijanovich NZ, Mourani PM, Hall MW, Su HC, Thomas PG; Pediatric Acute Lung Injury and Sepsis Investigators (PALISI) Network Pediatric Influenza (PICFLU) Investigators; Pediatric Acute Lung Injury and Sepsis Investigators (PALISI) Network Pediatric Influenza (PICFLU) Investigators.

J Infect Dis. 2017 Jul 1;216(1):14-21. doi: 10.1093/infdis/jix242.

PMID:
28531322
10.

Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.

Arno G, Carss KJ, Hull S, Zihni C, Robson AG, Fiorentino A; UK Inherited Retinal Disease Consortium, Hardcastle AJ, Holder GE, Cheetham ME, Plagnol V; NIHR Bioresource - Rare Diseases Consortium, Moore AT, Raymond FL, Matter K, Balda MS, Webster AR.

Am J Hum Genet. 2017 Feb 2;100(2):334-342. doi: 10.1016/j.ajhg.2016.12.014. Epub 2017 Jan 26.

11.

Therapeutic Hypothermia after In-Hospital Cardiac Arrest in Children.

Moler FW, Silverstein FS, Holubkov R, Slomine BS, Christensen JR, Nadkarni VM, Meert KL, Browning B, Pemberton VL, Page K, Gildea MR, Scholefield BR, Shankaran S, Hutchison JS, Berger JT, Ofori-Amanfo G, Newth CJ, Topjian A, Bennett KS, Koch JD, Pham N, Chanani NK, Pineda JA, Harrison R, Dalton HJ, Alten J, Schleien CL, Goodman DM, Zimmerman JJ, Bhalala US, Schwarz AJ, Porter MB, Shah S, Fink EL, McQuillen P, Wu T, Skellett S, Thomas NJ, Nowak JE, Baines PB, Pappachan J, Mathur M, Lloyd E, van der Jagt EW, Dobyns EL, Meyer MT, Sanders RC Jr, Clark AE, Dean JM; THAPCA Trial Investigators.

N Engl J Med. 2017 Jan 26;376(4):318-329. doi: 10.1056/NEJMoa1610493. Epub 2017 Jan 24.

12.

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, Plagnol V, Penkett C, Stirrups K, Rizzo R, Wright G, Josifova D, Bitner-Glindzicz M, Scott RH, Clement E, Allen L, Armstrong R, Brady AF, Carmichael J, Chitre M, Henderson RHH, Hurst J, MacLaren RE, Murphy E, Paterson J, Rosser E, Thompson DA, Wakeling E, Ouwehand WH, Michaelides M, Moore AT; NIHR-BioResource Rare Diseases Consortium, Webster AR, Raymond FL.

Am J Hum Genet. 2017 Jan 5;100(1):75-90. doi: 10.1016/j.ajhg.2016.12.003. Epub 2016 Dec 29.

13.

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

Astle WJ, Elding H, Jiang T, Allen D, Ruklisa D, Mann AL, Mead D, Bouman H, Riveros-Mckay F, Kostadima MA, Lambourne JJ, Sivapalaratnam S, Downes K, Kundu K, Bomba L, Berentsen K, Bradley JR, Daugherty LC, Delaneau O, Freson K, Garner SF, Grassi L, Guerrero J, Haimel M, Janssen-Megens EM, Kaan A, Kamat M, Kim B, Mandoli A, Marchini J, Martens JHA, Meacham S, Megy K, O'Connell J, Petersen R, Sharifi N, Sheard SM, Staley JR, Tuna S, van der Ent M, Walter K, Wang SY, Wheeler E, Wilder SP, Iotchkova V, Moore C, Sambrook J, Stunnenberg HG, Di Angelantonio E, Kaptoge S, Kuijpers TW, Carrillo-de-Santa-Pau E, Juan D, Rico D, Valencia A, Chen L, Ge B, Vasquez L, Kwan T, Garrido-Martín D, Watt S, Yang Y, Guigo R, Beck S, Paul DS, Pastinen T, Bujold D, Bourque G, Frontini M, Danesh J, Roberts DJ, Ouwehand WH, Butterworth AS, Soranzo N.

Cell. 2016 Nov 17;167(5):1415-1429.e19. doi: 10.1016/j.cell.2016.10.042.

14.

Pediatric Out-of-Hospital Cardiac Arrest Characteristics and Their Association With Survival and Neurobehavioral Outcome.

Meert KL, Telford R, Holubkov R, Slomine BS, Christensen JR, Dean JM, Moler FW; Therapeutic Hypothermia after Pediatric Cardiac Arrest (THAPCA) Trial Investigators.

Pediatr Crit Care Med. 2016 Dec;17(12):e543-e550.

15.

Staphylococcus aureus α-Toxin Response Distinguishes Respiratory Virus-Methicillin-Resistant S. aureus Coinfection in Children.

Yu KO, Randolph AG, Agan AA, Yip WK, Truemper EJ, Weiss SL, Ackerman KG, Schwarz AJ, Giuliano JS Jr, Hall MW, Bubeck Wardenburg J; Pediatric Acute Lung Injury and Sepsis Investigators (PALISI) PICFlu Study Group; PALISI PICFlu Study Group.

J Infect Dis. 2016 Dec 1;214(11):1638-1646. Epub 2016 Sep 20.

16.

Functional Outcome Trajectories After Out-of-Hospital Pediatric Cardiac Arrest.

Silverstein FS, Slomine BS, Christensen J, Holubkov R, Page K, Dean JM, Moler FW; Therapeutic Hypothermia to Improve Survival After Cardiac Arrest Trial Group.

Crit Care Med. 2016 Dec;44(12):e1165-e1174.

17.

Outcomes Using a Conservative Versus Liberal Red Blood Cell Transfusion Strategy in Infants Requiring Cardiac Operation.

Cholette JM, Swartz MF, Rubenstein J, Henrichs KF, Wang H, Powers KS, Daugherty LE, Alfieris GM, Gensini F, Blumberg N.

Ann Thorac Surg. 2017 Jan;103(1):206-214. doi: 10.1016/j.athoracsur.2016.05.049. Epub 2016 Aug 3.

PMID:
27496630
18.

Targeted Temperature Management After Pediatric Cardiac Arrest Due To Drowning: Outcomes and Complications.

Moler FW, Hutchison JS, Nadkarni VM, Silverstein FS, Meert KL, Holubkov R, Page K, Slomine BS, Christensen JR, Dean JM; Therapeutic Hypothermia After Pediatric Cardiac Arrest Out-of-Hospital Trial Investigators.

Pediatr Crit Care Med. 2016 Aug;17(8):712-20. doi: 10.1097/PCC.0000000000000763.

19.

In Reply.

Baird M, Daugherty L, Kumar KB.

Anesthesiology. 2016 Jun;124(6):1413. doi: 10.1097/ALN.0000000000001089. No abstract available.

PMID:
27187124
20.

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.

Simeoni I, Stephens JC, Hu F, Deevi SV, Megy K, Bariana TK, Lentaigne C, Schulman S, Sivapalaratnam S, Vries MJ, Westbury SK, Greene D, Papadia S, Alessi MC, Attwood AP, Ballmaier M, Baynam G, Bermejo E, Bertoli M, Bray PF, Bury L, Cattaneo M, Collins P, Daugherty LC, Favier R, French DL, Furie B, Gattens M, Germeshausen M, Ghevaert C, Goodeve AC, Guerrero JA, Hampshire DJ, Hart DP, Heemskerk JW, Henskens YM, Hill M, Hogg N, Jolley JD, Kahr WH, Kelly AM, Kerr R, Kostadima M, Kunishima S, Lambert MP, Liesner R, López JA, Mapeta RP, Mathias M, Millar CM, Nathwani A, Neerman-Arbez M, Nurden AT, Nurden P, Othman M, Peerlinck K, Perry DJ, Poudel P, Reitsma P, Rondina MT, Smethurst PA, Stevenson W, Szkotak A, Tuna S, van Geet C, Whitehorn D, Wilcox DA, Zhang B, Revel-Vilk S, Gresele P, Bellissimo DB, Penkett CJ, Laffan MA, Mumford AD, Rendon A, Gomez K, Freson K, Ouwehand WH, Turro E.

Blood. 2016 Jun 9;127(23):2791-803. doi: 10.1182/blood-2015-12-688267. Epub 2016 Apr 15.

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