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Items: 1 to 50 of 264

1.

Genetic influences on treatment-seeking for common mental health problems in the UK biobank.

Rayner C, Coleman JRI, Purves KL, Cheesman R, Hübel C, Gaspar H, Glanville K, Krebs G, Morneau-Vaillancourt G, Breen G, Eley TC.

Behav Res Ther. 2019 Oct;121:103413. doi: 10.1016/j.brat.2019.103413. Epub 2019 Jun 15.

2.

Structure-cytotoxicity relationship profile of 13 synthetic cathinones in differentiated human SH-SY5Y neuronal cells.

Soares J, Costa VM, Gaspar H, Santos S, de Lourdes Bastos M, Carvalho F, Capela JP.

Neurotoxicology. 2019 Aug 29. pii: S0161-813X(18)30497-2. doi: 10.1016/j.neuro.2019.08.009. [Epub ahead of print]

PMID:
31473217
3.

Indicators of mental disorders in UK Biobank-A comparison of approaches.

Davis KAS, Cullen B, Adams M, Brailean A, Breen G, Coleman JRI, Dregan A, Gaspar HA, Hübel C, Lee W, McIntosh AM, Nolan J, Pearsall R, Hotopf M.

Int J Methods Psychiatr Res. 2019 Aug 8:e1796. doi: 10.1002/mpr.1796. [Epub ahead of print]

PMID:
31397039
4.

Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa.

Watson HJ, Yilmaz Z, Thornton LM, Hübel C, Coleman JRI, Gaspar HA, Bryois J, Hinney A, Leppä VM, Mattheisen M, Medland SE, Ripke S, Yao S, Giusti-Rodríguez P; Anorexia Nervosa Genetics Initiative, Hanscombe KB, Purves KL; Eating Disorders Working Group of the Psychiatric Genomics Consortium, Adan RAH, Alfredsson L, Ando T, Andreassen OA, Baker JH, Berrettini WH, Boehm I, Boni C, Perica VB, Buehren K, Burghardt R, Cassina M, Cichon S, Clementi M, Cone RD, Courtet P, Crow S, Crowley JJ, Danner UN, Davis OSP, de Zwaan M, Dedoussis G, Degortes D, DeSocio JE, Dick DM, Dikeos D, Dina C, Dmitrzak-Weglarz M, Docampo E, Duncan LE, Egberts K, Ehrlich S, Escaramís G, Esko T, Estivill X, Farmer A, Favaro A, Fernández-Aranda F, Fichter MM, Fischer K, Föcker M, Foretova L, Forstner AJ, Forzan M, Franklin CS, Gallinger S, Giegling I, Giuranna J, Gonidakis F, Gorwood P, Mayora MG, Guillaume S, Guo Y, Hakonarson H, Hatzikotoulas K, Hauser J, Hebebrand J, Helder SG, Herms S, Herpertz-Dahlmann B, Herzog W, Huckins LM, Hudson JI, Imgart H, Inoko H, Janout V, Jiménez-Murcia S, Julià A, Kalsi G, Kaminská D, Kaprio J, Karhunen L, Karwautz A, Kas MJH, Kennedy JL, Keski-Rahkonen A, Kiezebrink K, Kim YR, Klareskog L, Klump KL, Knudsen GPS, La Via MC, Le Hellard S, Levitan RD, Li D, Lilenfeld L, Lin BD, Lissowska J, Luykx J, Magistretti PJ, Maj M, Mannik K, Marsal S, Marshall CR, Mattingsdal M, McDevitt S, McGuffin P, Metspalu A, Meulenbelt I, Micali N, Mitchell K, Monteleone AM, Monteleone P, Munn-Chernoff MA, Nacmias B, Navratilova M, Ntalla I, O'Toole JK, Ophoff RA, Padyukov L, Palotie A, Pantel J, Papezova H, Pinto D, Rabionet R, Raevuori A, Ramoz N, Reichborn-Kjennerud T, Ricca V, Ripatti S, Ritschel F, Roberts M, Rotondo A, Rujescu D, Rybakowski F, Santonastaso P, Scherag A, Scherer SW, Schmidt U, Schork NJ, Schosser A, Seitz J, Slachtova L, Slagboom PE, Slof-Op 't Landt MCT, Slopien A, Sorbi S, Świątkowska B, Szatkiewicz JP, Tachmazidou I, Tenconi E, Tortorella A, Tozzi F, Treasure J, Tsitsika A, Tyszkiewicz-Nwafor M, Tziouvas K, van Elburg AA, van Furth EF, Wagner G, Walton E, Widen E, Zeggini E, Zerwas S, Zipfel S, Bergen AW, Boden JM, Brandt H, Crawford S, Halmi KA, Horwood LJ, Johnson C, Kaplan AS, Kaye WH, Mitchell JE, Olsen CM, Pearson JF, Pedersen NL, Strober M, Werge T, Whiteman DC, Woodside DB, Stuber GD, Gordon S, Grove J, Henders AK, Juréus A, Kirk KM, Larsen JT, Parker R, Petersen L, Jordan J, Kennedy M, Montgomery GW, Wade TD, Birgegård A, Lichtenstein P, Norring C, Landén M, Martin NG, Mortensen PB, Sullivan PF, Breen G, Bulik CM.

Nat Genet. 2019 Aug;51(8):1207-1214. doi: 10.1038/s41588-019-0439-2. Epub 2019 Jul 15.

PMID:
31308545
5.

Pre-clinical Safety and Efficacy of Lentiviral Vector-Mediated Ex Vivo Stem Cell Gene Therapy for the Treatment of Mucopolysaccharidosis IIIA.

Ellison SM, Liao A, Wood S, Taylor J, Youshani AS, Rowlston S, Parker H, Armant M, Biffi A, Chan L, Farzaneh F, Wynn R, Jones SA, Heal P, Gaspar HB, Bigger BW.

Mol Ther Methods Clin Dev. 2019 Apr 6;13:399-413. doi: 10.1016/j.omtm.2019.04.001. eCollection 2019 Jun 14.

6.

Genome-wide association study identifies 30 loci associated with bipolar disorder.

Stahl EA, Breen G, Forstner AJ, McQuillin A, Ripke S, Trubetskoy V, Mattheisen M, Wang Y, Coleman JRI, Gaspar HA, de Leeuw CA, Steinberg S, Pavlides JMW, Trzaskowski M, Byrne EM, Pers TH, Holmans PA, Richards AL, Abbott L, Agerbo E, Akil H, Albani D, Alliey-Rodriguez N, Als TD, Anjorin A, Antilla V, Awasthi S, Badner JA, Bækvad-Hansen M, Barchas JD, Bass N, Bauer M, Belliveau R, Bergen SE, Pedersen CB, Bøen E, Boks MP, Boocock J, Budde M, Bunney W, Burmeister M, Bybjerg-Grauholm J, Byerley W, Casas M, Cerrato F, Cervantes P, Chambert K, Charney AW, Chen D, Churchhouse C, Clarke TK, Coryell W, Craig DW, Cruceanu C, Curtis D, Czerski PM, Dale AM, de Jong S, Degenhardt F, Del-Favero J, DePaulo JR, Djurovic S, Dobbyn AL, Dumont A, Elvsåshagen T, Escott-Price V, Fan CC, Fischer SB, Flickinger M, Foroud TM, Forty L, Frank J, Fraser C, Freimer NB, Frisén L, Gade K, Gage D, Garnham J, Giambartolomei C, Pedersen MG, Goldstein J, Gordon SD, Gordon-Smith K, Green EK, Green MJ, Greenwood TA, Grove J, Guan W, Guzman-Parra J, Hamshere ML, Hautzinger M, Heilbronner U, Herms S, Hipolito M, Hoffmann P, Holland D, Huckins L, Jamain S, Johnson JS, Juréus A, Kandaswamy R, Karlsson R, Kennedy JL, Kittel-Schneider S, Knowles JA, Kogevinas M, Koller AC, Kupka R, Lavebratt C, Lawrence J, Lawson WB, Leber M, Lee PH, Levy SE, Li JZ, Liu C, Lucae S, Maaser A, MacIntyre DJ, Mahon PB, Maier W, Martinsson L, McCarroll S, McGuffin P, McInnis MG, McKay JD, Medeiros H, Medland SE, Meng F, Milani L, Montgomery GW, Morris DW, Mühleisen TW, Mullins N, Nguyen H, Nievergelt CM, Adolfsson AN, Nwulia EA, O'Donovan C, Loohuis LMO, Ori APS, Oruc L, Ösby U, Perlis RH, Perry A, Pfennig A, Potash JB, Purcell SM, Regeer EJ, Reif A, Reinbold CS, Rice JP, Rivas F, Rivera M, Roussos P, Ruderfer DM, Ryu E, Sánchez-Mora C, Schatzberg AF, Scheftner WA, Schork NJ, Shannon Weickert C, Shehktman T, Shilling PD, Sigurdsson E, Slaney C, Smeland OB, Sobell JL, Søholm Hansen C, Spijker AT, St Clair D, Steffens M, Strauss JS, Streit F, Strohmaier J, Szelinger S, Thompson RC, Thorgeirsson TE, Treutlein J, Vedder H, Wang W, Watson SJ, Weickert TW, Witt SH, Xi S, Xu W, Young AH, Zandi P, Zhang P, Zöllner S; eQTLGen Consortium; BIOS Consortium, Adolfsson R, Agartz I, Alda M, Backlund L, Baune BT, Bellivier F, Berrettini WH, Biernacka JM, Blackwood DHR, Boehnke M, Børglum AD, Corvin A, Craddock N, Daly MJ, Dannlowski U, Esko T, Etain B, Frye M, Fullerton JM, Gershon ES, Gill M, Goes F, Grigoroiu-Serbanescu M, Hauser J, Hougaard DM, Hultman CM, Jones I, Jones LA, Kahn RS, Kirov G, Landén M, Leboyer M, Lewis CM, Li QS, Lissowska J, Martin NG, Mayoral F, McElroy SL, McIntosh AM, McMahon FJ, Melle I, Metspalu A, Mitchell PB, Morken G, Mors O, Mortensen PB, Müller-Myhsok B, Myers RM, Neale BM, Nimgaonkar V, Nordentoft M, Nöthen MM, O'Donovan MC, Oedegaard KJ, Owen MJ, Paciga SA, Pato C, Pato MT, Posthuma D, Ramos-Quiroga JA, Ribasés M, Rietschel M, Rouleau GA, Schalling M, Schofield PR, Schulze TG, Serretti A, Smoller JW, Stefansson H, Stefansson K, Stordal E, Sullivan PF, Turecki G, Vaaler AE, Vieta E, Vincent JB, Werge T, Nurnberger JI, Wray NR, Di Florio A, Edenberg HJ, Cichon S, Ophoff RA, Scott LJ, Andreassen OA, Kelsoe J, Sklar P; Bipolar Disorder Working Group of the Psychiatric Genomics Consortium.

Nat Genet. 2019 May;51(5):793-803. doi: 10.1038/s41588-019-0397-8. Epub 2019 May 1.

PMID:
31043756
7.

Clinical and immunological features in a cohort of patients with partial DiGeorge syndrome followed at a single center.

Giardino G, Radwan N, Koletsi P, Morrogh DM, Adams S, Ip W, Worth A, Jones A, Meyer-Parsonson I, Gaspar HB, Gilmour K, Davies EG, Ladomenou F.

Blood. 2019 Jun 13;133(24):2586-2596. doi: 10.1182/blood.2018885244. Epub 2019 Apr 23.

PMID:
31015189
8.

Determination of the Thin-Film Structure of Zwitterion-Doped Poly(3,4-ethylenedioxythiophene):Poly(styrenesulfonate): A Neutron Reflectivity Study.

Pérez GE, Bernardo G, Gaspar H, Cooper JFK, Bastianini F, Parnell AJ, Dunbar ADF.

ACS Appl Mater Interfaces. 2019 Apr 10;11(14):13803-13811. doi: 10.1021/acsami.9b02700. Epub 2019 Mar 26.

PMID:
30880381
9.

Using genetic drug-target networks to develop new drug hypotheses for major depressive disorder.

Gaspar HA, Gerring Z, Hübel C; Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, Middeldorp CM, Derks EM, Breen G.

Transl Psychiatry. 2019 Mar 15;9(1):117. doi: 10.1038/s41398-019-0451-4.

10.

Probabilistic ancestry maps: a method to assess and visualize population substructures in genetics.

Gaspar HA, Breen G.

BMC Bioinformatics. 2019 Mar 7;20(1):116. doi: 10.1186/s12859-019-2680-1.

11.

Antioxidant and Neuroprotective Potential of the Brown Seaweed Bifurcaria bifurcata in an in vitro Parkinson's Disease Model.

Silva J, Alves C, Freitas R, Martins A, Pinteus S, Ribeiro J, Gaspar H, Alfonso A, Pedrosa R.

Mar Drugs. 2019 Feb 1;17(2). pii: E85. doi: 10.3390/md17020085.

12.

Genomics of body fat percentage may contribute to sex bias in anorexia nervosa.

Hübel C, Gaspar HA, Coleman JRI, Finucane H, Purves KL, Hanscombe KB, Prokopenko I; MAGIC investigators, Graff M, Ngwa JS, Workalemahu T; Eating Disorders Working Group of the Psychiatric Genomics Consortium; Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium; Schizophrenia Working Group of the Psychiatric Genomics Consortium; Tourette Syndrome/Obsessive-Compulsive Disorder Working Group of the Psychiatric Genomics Consortium, O'Reilly PF, Bulik CM, Breen G.

Am J Med Genet B Neuropsychiatr Genet. 2019 Sep;180(6):428-438. doi: 10.1002/ajmg.b.32709. Epub 2018 Dec 28.

13.

Recent Developments in the Optimization of the Bulk Heterojunction Morphology of Polymer: Fullerene Solar Cells.

Gaspar H, Figueira F, Pereira L, Mendes A, Viana JC, Bernardo G.

Materials (Basel). 2018 Dec 16;11(12). pii: E2560. doi: 10.3390/ma11122560. Review.

14.

Drug Targetor: a web interface to investigate the human druggome for over 500 phenotypes.

Gaspar HA, Hübel C, Breen G.

Bioinformatics. 2019 Jul 15;35(14):2515-2517. doi: 10.1093/bioinformatics/bty982.

15.

Hematopoietic Stem Cell Transplantation as Treatment for Patients with DOCK8 Deficiency.

Aydin SE, Freeman AF, Al-Herz W, Al-Mousa HA, Arnaout RK, Aydin RC, Barlogis V, Belohradsky BH, Bonfim C, Bredius RG, Chu JI, Ciocarlie OC, Doğu F, Gaspar HB, Geha RS, Gennery AR, Hauck F, Hawwari A, Hickstein DD, Hoenig M, Ikinciogullari A, Klein C, Kumar A, Ifversen MRS, Matthes S, Metin A, Neven B, Pai SY, Parikh SH, Picard C, Renner ED, Sanal Ö, Schulz AS, Schuster F, Shah NN, Shereck EB, Slatter MA, Su HC, van Montfrans J, Woessmann W, Ziegler JB, Albert MH; Inborn Errors Working Party of the European Group for Blood and Marrow Transplantation and the European Society for Primary Immunodeficiencies.

J Allergy Clin Immunol Pract. 2019 Mar;7(3):848-855. doi: 10.1016/j.jaip.2018.10.035. Epub 2018 Nov 2.

PMID:
30391550
16.

Brown spots: What's the diagnosis?

Constante AR, Gaspar H, Neves F, Santos S.

BMJ Case Rep. 2018 Oct 14;2018. pii: bcr-2018-226189. doi: 10.1136/bcr-2018-226189. No abstract available.

PMID:
30323104
17.

Fracture risk assessment in home care patients using the FRAX® tool.

Rocha VM, Gaspar HA, Oliveira CF.

Einstein (Sao Paulo). 2018 Sep 6;16(3):eAO4236. doi: 10.1590/S1679-45082018AO4236. English, Portuguese.

18.

Consensus approach for the management of severe combined immune deficiency caused by adenosine deaminase deficiency.

Kohn DB, Hershfield MS, Puck JM, Aiuti A, Blincoe A, Gaspar HB, Notarangelo LD, Grunebaum E.

J Allergy Clin Immunol. 2019 Mar;143(3):852-863. doi: 10.1016/j.jaci.2018.08.024. Epub 2018 Sep 5.

PMID:
30194989
19.

From Marine Origin to Therapeutics: The Antitumor Potential of Marine Algae-Derived Compounds.

Alves C, Silva J, Pinteus S, Gaspar H, Alpoim MC, Botana LM, Pedrosa R.

Front Pharmacol. 2018 Aug 6;9:777. doi: 10.3389/fphar.2018.00777. eCollection 2018. Review.

20.

Proactive response to tackle the threat of emerging drugs: Synthesis and toxicity evaluation of new cathinones.

Gaspar H, Bronze S, Oliveira C, Victor BL, Machuqueiro M, Pacheco R, Caldeira MJ, Santos S.

Forensic Sci Int. 2018 Sep;290:146-156. doi: 10.1016/j.forsciint.2018.07.001. Epub 2018 Jul 11.

PMID:
30036736
21.

Point-of-care lung ultrasound in paediatric critical and emergency care.

Dominguez A, Gaspar HA, Preto M, Ejzenberg FE.

J Paediatr Child Health. 2018 Sep;54(9):945-952. doi: 10.1111/jpc.14067. Epub 2018 May 31. Review.

PMID:
29851160
22.

Genetic identification of brain cell types underlying schizophrenia.

Skene NG, Bryois J, Bakken TE, Breen G, Crowley JJ, Gaspar HA, Giusti-Rodriguez P, Hodge RD, Miller JA, Muñoz-Manchado AB, O'Donovan MC, Owen MJ, Pardiñas AF, Ryge J, Walters JTR, Linnarsson S, Lein ES; Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, Sullivan PF, Hjerling-Leffler J.

Nat Genet. 2018 Jun;50(6):825-833. doi: 10.1038/s41588-018-0129-5. Epub 2018 May 21.

23.

Multicenter phase 1/2 application of adenovirus-specific T cells in high-risk pediatric patients after allogeneic stem cell transplantation.

Ip W, Silva JMF, Gaspar H, Mitra A, Patel S, Rao K, Chiesa R, Amrolia P, Gilmour K, Ahsan G, Slatter M, Gennery AR, Wynn RF, Veys P, Qasim W.

Cytotherapy. 2018 Jun;20(6):830-838. doi: 10.1016/j.jcyt.2018.03.040. Epub 2018 May 9.

PMID:
29753677
24.

A genome-wide association study for extremely high intelligence.

Zabaneh D, Krapohl E, Gaspar HA, Curtis C, Lee SH, Patel H, Newhouse S, Wu HM, Simpson MA, Putallaz M, Lubinski D, Plomin R, Breen G.

Mol Psychiatry. 2018 May;23(5):1226-1232. doi: 10.1038/mp.2017.121. Epub 2017 Jul 4.

25.

Preclinical Development of a Lentiviral Vector for Gene Therapy of X-Linked Severe Combined Immunodeficiency.

Poletti V, Charrier S, Corre G, Gjata B, Vignaud A, Zhang F, Rothe M, Schambach A, Gaspar HB, Thrasher AJ, Mavilio F.

Mol Ther Methods Clin Dev. 2018 Mar 10;9:257-269. doi: 10.1016/j.omtm.2018.03.002. eCollection 2018 Jun 15.

26.

Transfer of gene-corrected T cells corrects humoral and cytotoxic defects in patients with X-linked lymphoproliferative disease.

Panchal N, Houghton B, Diez B, Ghosh S, Ricciardelli I, Thrasher AJ, Gaspar HB, Booth C.

J Allergy Clin Immunol. 2018 Jul;142(1):235-245.e6. doi: 10.1016/j.jaci.2018.02.053. Epub 2018 Apr 27.

27.

Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression.

Wray NR, Ripke S, Mattheisen M, Trzaskowski M, Byrne EM, Abdellaoui A, Adams MJ, Agerbo E, Air TM, Andlauer TMF, Bacanu SA, Bækvad-Hansen M, Beekman AFT, Bigdeli TB, Binder EB, Blackwood DRH, Bryois J, Buttenschøn HN, Bybjerg-Grauholm J, Cai N, Castelao E, Christensen JH, Clarke TK, Coleman JIR, Colodro-Conde L, Couvy-Duchesne B, Craddock N, Crawford GE, Crowley CA, Dashti HS, Davies G, Deary IJ, Degenhardt F, Derks EM, Direk N, Dolan CV, Dunn EC, Eley TC, Eriksson N, Escott-Price V, Kiadeh FHF, Finucane HK, Forstner AJ, Frank J, Gaspar HA, Gill M, Giusti-Rodríguez P, Goes FS, Gordon SD, Grove J, Hall LS, Hannon E, Hansen CS, Hansen TF, Herms S, Hickie IB, Hoffmann P, Homuth G, Horn C, Hottenga JJ, Hougaard DM, Hu M, Hyde CL, Ising M, Jansen R, Jin F, Jorgenson E, Knowles JA, Kohane IS, Kraft J, Kretzschmar WW, Krogh J, Kutalik Z, Lane JM, Li Y, Li Y, Lind PA, Liu X, Lu L, MacIntyre DJ, MacKinnon DF, Maier RM, Maier W, Marchini J, Mbarek H, McGrath P, McGuffin P, Medland SE, Mehta D, Middeldorp CM, Mihailov E, Milaneschi Y, Milani L, Mill J, Mondimore FM, Montgomery GW, Mostafavi S, Mullins N, Nauck M, Ng B, Nivard MG, Nyholt DR, O'Reilly PF, Oskarsson H, Owen MJ, Painter JN, Pedersen CB, Pedersen MG, Peterson RE, Pettersson E, Peyrot WJ, Pistis G, Posthuma D, Purcell SM, Quiroz JA, Qvist P, Rice JP, Riley BP, Rivera M, Saeed Mirza S, Saxena R, Schoevers R, Schulte EC, Shen L, Shi J, Shyn SI, Sigurdsson E, Sinnamon GBC, Smit JH, Smith DJ, Stefansson H, Steinberg S, Stockmeier CA, Streit F, Strohmaier J, Tansey KE, Teismann H, Teumer A, Thompson W, Thomson PA, Thorgeirsson TE, Tian C, Traylor M, Treutlein J, Trubetskoy V, Uitterlinden AG, Umbricht D, Van der Auwera S, van Hemert AM, Viktorin A, Visscher PM, Wang Y, Webb BT, Weinsheimer SM, Wellmann J, Willemsen G, Witt SH, Wu Y, Xi HS, Yang J, Zhang F; eQTLGen; 23andMe, Arolt V, Baune BT, Berger K, Boomsma DI, Cichon S, Dannlowski U, de Geus ECJ, DePaulo JR, Domenici E, Domschke K, Esko T, Grabe HJ, Hamilton SP, Hayward C, Heath AC, Hinds DA, Kendler KS, Kloiber S, Lewis G, Li QS, Lucae S, Madden PFA, Magnusson PK, Martin NG, McIntosh AM, Metspalu A, Mors O, Mortensen PB, Müller-Myhsok B, Nordentoft M, Nöthen MM, O'Donovan MC, Paciga SA, Pedersen NL, Penninx BWJH, Perlis RH, Porteous DJ, Potash JB, Preisig M, Rietschel M, Schaefer C, Schulze TG, Smoller JW, Stefansson K, Tiemeier H, Uher R, Völzke H, Weissman MM, Werge T, Winslow AR, Lewis CM, Levinson DF, Breen G, Børglum AD, Sullivan PF; Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium.

Nat Genet. 2018 May;50(5):668-681. doi: 10.1038/s41588-018-0090-3. Epub 2018 Apr 26.

28.

Conference Report: Psychiatric Genomics Consortium Meeting: Pathways to Drugs, London, March 2017.

Gaspar HA, Collier DA, Geschwind DH, Lewis CM, Li Q, Roth BL, Sullivan PF, Breen G.

Biol Psychiatry. 2018 Sep 15;84(6):e49-e50. doi: 10.1016/j.biopsych.2018.01.024. Epub 2018 Feb 8. No abstract available.

PMID:
29576190
29.

Non-posttransplant lymphoproliferative disorder malignancy after hematopoietic stem cell transplantation in patients with primary immunodeficiency: UK experience.

Unni MNM, Elfeky R, Rao K, Nademi Z, Chiesa R, Amrolia P, Skinner R, Slater O, Worth A, Flood T, Abinun M, Hambleton S, Qasim W, Gaspar HB, Cant AJ, Gennery AR, Veys P, Slatter MA.

J Allergy Clin Immunol. 2018 Jun;141(6):2319-2321.e1. doi: 10.1016/j.jaci.2018.02.038. Epub 2018 Mar 7. No abstract available.

PMID:
29524534
30.

Biological annotation of genetic loci associated with intelligence in a meta-analysis of 87,740 individuals.

Coleman JRI, Bryois J, Gaspar HA, Jansen PR, Savage JE, Skene N, Plomin R, Muñoz-Manchado AB, Linnarsson S, Crawford G, Hjerling-Leffler J, Sullivan PF, Posthuma D, Breen G.

Mol Psychiatry. 2019 Feb;24(2):182-197. doi: 10.1038/s41380-018-0040-6. Epub 2018 Mar 8.

31.

T-cell gene therapy for perforin deficiency corrects cytotoxicity defects and prevents hemophagocytic lymphohistiocytosis manifestations.

Ghosh S, Carmo M, Calero-Garcia M, Ricciardelli I, Bustamante Ogando JC, Blundell MP, Schambach A, Ashton-Rickardt PG, Booth C, Ehl S, Lehmberg K, Thrasher AJ, Gaspar HB.

J Allergy Clin Immunol. 2018 Sep;142(3):904-913.e3. doi: 10.1016/j.jaci.2017.11.050. Epub 2018 Jan 31.

32.

Recent advances in understanding the pathogenesis and management of reticular dysgenesis.

Hoenig M, Pannicke U, Gaspar HB, Schwarz K.

Br J Haematol. 2018 Mar;180(5):644-653. doi: 10.1111/bjh.15045. Epub 2017 Dec 21. Review.

PMID:
29270983
33.

Treosulfan and Fludarabine Conditioning for Hematopoietic Stem Cell Transplantation in Children with Primary Immunodeficiency: UK Experience.

Slatter MA, Rao K, Abd Hamid IJ, Nademi Z, Chiesa R, Elfeky R, Pearce MS, Amrolia P, Worth A, Flood T, Abinun M, Hambleton S, Qasim W, Gaspar HB, Cant AJ, Gennery AR, Veys P.

Biol Blood Marrow Transplant. 2018 Mar;24(3):529-536. doi: 10.1016/j.bbmt.2017.11.009. Epub 2017 Nov 16.

34.

Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy.

Eichler F, Duncan C, Musolino PL, Orchard PJ, De Oliveira S, Thrasher AJ, Armant M, Dansereau C, Lund TC, Miller WP, Raymond GV, Sankar R, Shah AJ, Sevin C, Gaspar HB, Gissen P, Amartino H, Bratkovic D, Smith NJC, Paker AM, Shamir E, O'Meara T, Davidson D, Aubourg P, Williams DA.

N Engl J Med. 2017 Oct 26;377(17):1630-1638. doi: 10.1056/NEJMoa1700554. Epub 2017 Oct 4.

35.
36.

Gene Therapy Approaches to Immunodeficiency.

Ghosh S, Gaspar HB.

Hematol Oncol Clin North Am. 2017 Oct;31(5):823-834. doi: 10.1016/j.hoc.2017.05.003. Epub 2017 Jun 29. Review.

PMID:
28895850
37.

High-Flow Nasal Cannula Weaning Protocol: Is It Relevant?

Tuma PL, Ejzenberg F, Gaspar HA, Almeida JFL.

Pediatr Crit Care Med. 2017 Sep;18(9):910. doi: 10.1097/PCC.0000000000001257. No abstract available.

PMID:
28863100
38.

Adenosine Deaminase (ADA)-Deficient Severe Combined Immune Deficiency (SCID): Molecular Pathogenesis and Clinical Manifestations.

Bradford KL, Moretti FA, Carbonaro-Sarracino DA, Gaspar HB, Kohn DB.

J Clin Immunol. 2017 Oct;37(7):626-637. doi: 10.1007/s10875-017-0433-3. Epub 2017 Aug 25. Review.

PMID:
28842866
39.

Gene therapy for Wiskott-Aldrich syndrome in a severely affected adult.

Morris EC, Fox T, Chakraverty R, Tendeiro R, Snell K, Rivat C, Grace S, Gilmour K, Workman S, Buckland K, Butler K, Chee R, Salama AD, Ibrahim H, Hara H, Duret C, Mavilio F, Male F, Bushman FD, Galy A, Burns SO, Gaspar HB, Thrasher AJ.

Blood. 2017 Sep 14;130(11):1327-1335. doi: 10.1182/blood-2017-04-777136. Epub 2017 Jul 17.

40.

4.7 Mb deletion encompassing TGFB2 associated with features of Loeys-Dietz syndrome and osteoporosis in adulthood.

Gaspar H, Lutz B, Reicherter K, Lühl S, Taurman R, Gabriel H, Brenner RE, Borck G.

Am J Med Genet A. 2017 Aug;173(8):2289-2292. doi: 10.1002/ajmg.a.38286. Epub 2017 May 25. No abstract available.

PMID:
28544325
41.

Significant Locus and Metabolic Genetic Correlations Revealed in Genome-Wide Association Study of Anorexia Nervosa.

Duncan L, Yilmaz Z, Gaspar H, Walters R, Goldstein J, Anttila V, Bulik-Sullivan B, Ripke S; Eating Disorders Working Group of the Psychiatric Genomics Consortium, Thornton L, Hinney A, Daly M, Sullivan PF, Zeggini E, Breen G, Bulik CM.

Am J Psychiatry. 2017 Sep 1;174(9):850-858. doi: 10.1176/appi.ajp.2017.16121402. Epub 2017 May 12.

42.

In-service characterization of a polymer wick-based quasi-dry electrode for rapid pasteless electroencephalography.

Pedrosa P, Fiedler P, Pestana V, Vasconcelos B, Gaspar H, Amaral MH, Freitas D, Haueisen J, Nóbrega JM, Fonseca C.

Biomed Tech (Berl). 2018 Jul 26;63(4):349-359. doi: 10.1515/bmt-2016-0193.

PMID:
28467306
43.

Lentiviral Vectors with Cellular Promoters Correct Anemia and Lethal Bone Marrow Failure in a Mouse Model for Diamond-Blackfan Anemia.

Debnath S, Jaako P, Siva K, Rothe M, Chen J, Dahl M, Gaspar HB, Flygare J, Schambach A, Karlsson S.

Mol Ther. 2017 Aug 2;25(8):1805-1814. doi: 10.1016/j.ymthe.2017.04.002. Epub 2017 Apr 20.

44.

Thymus transplantation for complete DiGeorge syndrome: European experience.

Davies EG, Cheung M, Gilmour K, Maimaris J, Curry J, Furmanski A, Sebire N, Halliday N, Mengrelis K, Adams S, Bernatoniene J, Bremner R, Browning M, Devlin B, Erichsen HC, Gaspar HB, Hutchison L, Ip W, Ifversen M, Leahy TR, McCarthy E, Moshous D, Neuling K, Pac M, Papadopol A, Parsley KL, Poliani L, Ricciardelli I, Sansom DM, Voor T, Worth A, Crompton T, Markert ML, Thrasher AJ.

J Allergy Clin Immunol. 2017 Dec;140(6):1660-1670.e16. doi: 10.1016/j.jaci.2017.03.020. Epub 2017 Apr 8.

45.

Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders.

Slack J, Albert MH, Balashov D, Belohradsky BH, Bertaina A, Bleesing J, Booth C, Buechner J, Buckley RH, Ouachée-Chardin M, Deripapa E, Drabko K, Eapen M, Feuchtinger T, Finocchi A, Gaspar HB, Ghosh S, Gillio A, Gonzalez-Granado LI, Grunebaum E, Güngör T, Heilmann C, Helminen M, Higuchi K, Imai K, Kalwak K, Kanazawa N, Karasu G, Kucuk ZY, Laberko A, Lange A, Mahlaoui N, Meisel R, Moshous D, Muramatsu H, Parikh S, Pasic S, Schmid I, Schuetz C, Schulz A, Schultz KR, Shaw PJ, Slatter MA, Sykora KW, Tamura S, Taskinen M, Wawer A, Wolska-Kuśnierz B, Cowan MJ, Fischer A, Gennery AR; Inborn Errors Working Party of the European Society for Blood and Marrow Transplantation and the European Society for Immunodeficiencies; Stem Cell Transplant for Immunodeficiencies in Europe (SCETIDE); Center for International Blood and Marrow Transplant Research; Primary Immunodeficiency Treatment Consortium.

J Allergy Clin Immunol. 2018 Jan;141(1):322-328.e10. doi: 10.1016/j.jaci.2017.02.036. Epub 2017 Apr 7.

46.

Reticular dysgenesis: international survey on clinical presentation, transplantation, and outcome.

Hoenig M, Lagresle-Peyrou C, Pannicke U, Notarangelo LD, Porta F, Gennery AR, Slatter M, Cowan MJ, Stepensky P, Al-Mousa H, Al-Zahrani D, Pai SY, Al Herz W, Gaspar HB, Veys P, Oshima K, Imai K, Yabe H, Noroski LM, Wulffraat NM, Sykora KW, Soler-Palacin P, Muramatsu H, Al Hilali M, Moshous D, Debatin KM, Schuetz C, Jacobsen EM, Schulz AS, Schwarz K, Fischer A, Friedrich W, Cavazzana M; European Society for Blood and Marrow Transplantation (EBMT) Inborn Errors Working Party.

Blood. 2017 May 25;129(21):2928-2938. doi: 10.1182/blood-2016-11-745638. Epub 2017 Mar 22.

47.

How We Manage Adenosine Deaminase-Deficient Severe Combined Immune Deficiency (ADA SCID).

Kohn DB, Gaspar HB.

J Clin Immunol. 2017 May;37(4):351-356. doi: 10.1007/s10875-017-0373-y. Epub 2017 Feb 14. Review.

PMID:
28194615
48.

Vulvar Lobular Capillary Hemangioma: A Rare Location for a Frequent Entity.

Abreu-Dos-Santos F, Câmara S, Reis F, Freitas T, Gaspar H, Cordeiro M.

Case Rep Obstet Gynecol. 2016;2016:3435270. doi: 10.1155/2016/3435270. Epub 2016 Dec 29.

49.

Translating genome-wide association findings into new therapeutics for psychiatry.

Breen G, Li Q, Roth BL, O'Donnell P, Didriksen M, Dolmetsch R, O'Reilly PF, Gaspar HA, Manji H, Huebel C, Kelsoe JR, Malhotra D, Bertolino A, Posthuma D, Sklar P, Kapur S, Sullivan PF, Collier DA, Edenberg HJ.

Nat Neurosci. 2016 Oct 26;19(11):1392-1396. doi: 10.1038/nn.4411. Review.

50.

A prospective study on the natural history of patients with profound combined immunodeficiency: An interim analysis.

Speckmann C, Doerken S, Aiuti A, Albert MH, Al-Herz W, Allende LM, Scarselli A, Avcin T, Perez-Becker R, Cancrini C, Cant A, Di Cesare S, Finocchi A, Fischer A, Gaspar HB, Ghosh S, Gennery A, Gilmour K, González-Granado LI, Martinez-Gallo M, Hambleton S, Hauck F, Hoenig M, Moshous D, Neven B, Niehues T, Notarangelo L, Picard C, Rieber N, Schulz A, Schwarz K, Seidel MG, Soler-Palacin P, Stepensky P, Strahm B, Vraetz T, Warnatz K, Winterhalter C, Worth A, Fuchs S, Uhlmann A, Ehl S; P-CID study of the Inborn Errors Working Party of the EBMT.

J Allergy Clin Immunol. 2017 Apr;139(4):1302-1310.e4. doi: 10.1016/j.jaci.2016.07.040. Epub 2016 Sep 19.

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