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Items: 1 to 20 of 92


Immunodeficiency, autoimmune thrombocytopenia and enterocolitis caused by autosomal recessive deficiency of PIK3CD-encoded phosphoinositide 3-kinase δ.

Swan DJ, Aschenbrenner D, Lamb CA, Chakraborty K, Clark J, Pandey S, Engelhardt KR, Chen R, Cavounidis A, Ding Y, Krasnogor N, Carey CD, Acres M, Needham S, Cant AJ, Arkwright PD, Chandra A, Okkenhaug K, Uhlig HH, Hambleton S.

Haematologica. 2019 Oct;104(10):e483-e486. doi: 10.3324/haematol.2018.208397. Epub 2019 May 9. No abstract available.


Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.

Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G; Deciphering Developmental Disorders Study; UK10K Consortium; NIHR BioResource, Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA.

Am J Hum Genet. 2019 May 2;104(5):948-956. doi: 10.1016/j.ajhg.2019.03.005. Epub 2019 Apr 11.


An Evaluation of U.S. Military Non-Medical Counseling Programs.

Trail TE, Martin LT, Burgette LF, May LW, Mahmud A, Nanda N, Chandra A.

Rand Health Q. 2018 Oct 11;8(2):6. eCollection 2018 Oct.


Publisher Correction: 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 Sep 3;8(1):13376. doi: 10.1038/s41598-018-31524-0.


PI3Kδ hyper-activation promotes development of B cells that exacerbate Streptococcus pneumoniae infection in an antibody-independent manner.

Stark AK, Chandra A, Chakraborty K, Alam R, Carbonaro V, Clark J, Sriskantharajah S, Bradley G, Richter AG, Banham-Hall E, Clatworthy MR, Nejentsev S, Hamblin JN, Hessel EM, Condliffe AM, Okkenhaug K.

Nat Commun. 2018 Aug 9;9(1):3174. doi: 10.1038/s41467-018-05674-8.


Improving Disaster Resilience Among Older Adults: Insights from Public Health Departments and Aging-in-Place Efforts.

Shih RA, Acosta JD, Chen EK, Carbone EG, Xenakis L, Adamson DM, Chandra A.

Rand Health Q. 2018 Aug 2;8(1):3. eCollection 2018 Aug.


De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.

Ito Y, Carss KJ, Duarte ST, Hartley T, Keren B, Kurian MA, Marey I, Charles P, Mendonça C, Nava C, Pfundt R, Sanchis-Juan A, van Bokhoven H, van Essen A, van Ravenswaaij-Arts C; NIHR BioResource; Care4Rare Canada Consortium, Boycott KM, Kernohan KD, Dyack S, Raymond FL.

Am J Hum Genet. 2018 Jul 5;103(1):144-153. doi: 10.1016/j.ajhg.2018.06.001. Epub 2018 Jun 28.


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 Jul 5;103(1):3-18. doi: 10.1016/j.ajhg.2018.04.013. Epub 2018 Jun 14.


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, Pachlopnik Schmid J, 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.


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.


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.


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 Oct;142(4):1285-1296. doi: 10.1016/j.jaci.2018.01.039. Epub 2018 Mar 2.


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.


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.


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 Oct;12(5):635-643. doi: 10.1017/dmp.2017.130. Epub 2018 Feb 1.


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. Erratum in: Sci Rep. 2018 Sep 3;8(1):13376.


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.


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.


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.


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.

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