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Items: 1 to 20 of 85

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.

Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry.

Maccari ME, Abolhassani H, Aghamohammadi A, Aiuti A, Aleinikova O, Bangs C, Baris S, Barzaghi F, Baxendale H, Buckland M, Burns SO, Cancrini C, Cant A, Cathébras P, Cavazzana M, Chandra A, Conti F, Coulter T, Devlin LA, Edgar JDM, Faust S, Fischer A, Garcia-Prat M, Hammarström L, Heeg M, Jolles S, Karakoc-Aydiner E, Kindle G, Kiykim A, Kumararatne D, Grimbacher B, Longhurst H, Mahlaoui N, Milota T, Moreira F, Moshous D, Mukhina A, Neth O, Neven B, Nieters A, Olbrich P, Ozen A, Schmid JP, Picard C, Prader S, Rae W, Reichenbach J, Rusch S, Savic S, Scarselli A, Scheible R, Sediva A, Sharapova SO, Shcherbina A, Slatter M, Soler-Palacin P, Stanislas A, Suarez F, Tucci F, Uhlmann A, van Montfrans J, Warnatz K, Williams AP, Wood P, Kracker S, Condliffe AM, Ehl S.

Front Immunol. 2018 Mar 16;9:543. doi: 10.3389/fimmu.2018.00543. eCollection 2018.

3.

Evaluating Community Partnerships Addressing Community Resilience in Los Angeles, California.

Williams MV, Chandra A, Spears A, Varda D, Wells KB, Plough AL, Eisenman DP.

Int J Environ Res Public Health. 2018 Mar 27;15(4). pii: E610. doi: 10.3390/ijerph15040610.

4.

Respiratory Manifestations of the Activated Phosphoinositide 3-Kinase Delta Syndrome.

Condliffe AM, Chandra A.

Front Immunol. 2018 Mar 5;9:338. doi: 10.3389/fimmu.2018.00338. eCollection 2018. Review.

5.

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]

6.

Characterization of innate immune viral sensors in patients following allogeneic hematopoietic stem cell transplantation.

Caddy SL, Wang M, Krishnamurthy P, Uttenthal B, Chandra A, Crawley C, James LC.

Innate Immun. 2018 Feb;24(2):112-121. doi: 10.1177/1753425918757898. Epub 2018 Feb 12.

PMID:
29433372
7.

How Cultural Alignment and the Use of Incentives Can Promote a Culture of Health: Stakeholder Perspectives.

Laurie T M, Linnea Warren M, Sarah W, Joie D A, Anita C.

Rand Health Q. 2018 Jan 29;7(2):5. eCollection 2018 Jan.

8.

How Community and Public Health Partnerships Contribute to Disaster Recovery and Resilience.

Acosta JD, Burgette L, Chandra A, Eisenman DP, Gonzalez I, Varda D, Xenakis L.

Disaster Med Public Health Prep. 2018 Feb 1:1-9. doi: 10.1017/dmp.2017.130. [Epub ahead of print]

PMID:
29388518
9.

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.

10.

Beyond Disaster Preparedness: Building a Resilience-Oriented Workforce for the Future.

Madrigano J, Chandra A, Costigan T, Acosta JD.

Int J Environ Res Public Health. 2017 Dec 13;14(12). pii: E1563. doi: 10.3390/ijerph14121563. Review.

11.

Towards More Nuanced Classification of NGOs and Their Services to Improve Integrated Planning across Disaster Phases.

Towe VL, Acosta JD, Chandra A.

Int J Environ Res Public Health. 2017 Nov 21;14(11). pii: E1423. doi: 10.3390/ijerph14111423.

12.

How Do Communities Use a Participatory Public Health Approach to Build Resilience? The Los Angeles County Community Disaster Resilience Project.

Bromley E, Eisenman DP, Magana A, Williams M, Kim B, McCreary M, Chandra A, Wells KB.

Int J Environ Res Public Health. 2017 Oct 21;14(10). pii: E1267. doi: 10.3390/ijerph14101267.

13.

An Agenda to Advance Integrative Resilience Research and Practice: Key Themes From a Resilience Roundtable.

Acosta JD, Chandra A, Madrigano J.

Rand Health Q. 2017 Jan 1;7(1):5. eCollection 2017 Jan.

14.

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.

15.

Anterior Chamber Invasion in Retinoblastoma: Not an Indication for Adjuvant Chemotherapy.

Sreelakshmi KV, Chandra A, Krishnakumar S, Natarajan V, Khetan V.

Invest Ophthalmol Vis Sci. 2017 Sep 1;58(11):4654-4661. doi: 10.1167/iovs.17-22111.

PMID:
28903151
16.

Stakeholder Perspectives on a Culture of Health: Key Findings.

Acosta JD, Whitley MD, May LW, Dubowitz T, Williams MV, Chandra A.

Rand Health Q. 2017 Jun 19;6(3):6. eCollection 2017 Jun.

17.

Building a National Culture of Health: Background, Action Framework, Measures, and Next Steps.

Chandra A, Acosta J, Carman KG, Dubowitz T, Leviton L, Martin LT, Miller C, Nelson C, Orleans T, Tait M, Trujillo M, Towe V, Yeung D, Plough AL.

Rand Health Q. 2017 Jan 13;6(2):3. eCollection 2017 Jan.

18.

Cells with Treg-specific FOXP3 demethylation but low CD25 are prevalent in autoimmunity.

Ferreira RC, Simons HZ, Thompson WS, Rainbow DB, Yang X, Cutler AJ, Oliveira J, Castro Dopico X, Smyth DJ, Savinykh N, Mashar M, Vyse TJ, Dunger DB, Baxendale H, Chandra A, Wallace C, Todd JA, Wicker LS, Pekalski ML.

J Autoimmun. 2017 Nov;84:75-86. doi: 10.1016/j.jaut.2017.07.009. Epub 2017 Jul 23.

19.

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.

20.

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.

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