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Items: 1 to 50 of 621

1.

Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β.

Li J, Ritelli M, Ma CS, Rao G, Habib T, Corvilain E, Bougarn S, Cypowyj S, Grodecká L, Lévy R, Béziat V, Shang L, Payne K, Avery DT, Migaud M, Boucherit S, Boughorbel S, Guennoun A, Chrabieh M, Rapaport F, Bigio B, Itan Y, Boisson B, Cormier-Daire V, Syx D, Malfait F, Zoppi N, Abel L, Freiberger T, Dietz HC, Marr N, Tangye SG, Colombi M, Casanova JL, Puel A.

Sci Immunol. 2019 Nov 29;4(41). pii: eaax7965. doi: 10.1126/sciimmunol.aax7965.

PMID:
31784499
2.

Identification of an Endoglin Variant Associated With HCV-Related Liver Fibrosis Progression by Next-Generation Sequencing.

About F, Bibert S, Jouanguy E, Nalpas B, Lorenzo L, Rattina V, Zarhrate M, Hanein S, Munteanu M, Müllhaupt B, Semela D, Semmo N, Casanova JL, Theodorou I, Sultanik P, Poynard T, Pol S, Bochud PY, Cobat A, Abel L; Swiss Hepatitis C Cohort Study Group; French ANRS HC EP 26 Genoscan Study Group.

Front Genet. 2019 Nov 4;10:1024. doi: 10.3389/fgene.2019.01024. eCollection 2019.

3.

Decreased plasma phospholipid concentrations and increased acid sphingomyelinase activity are accurate biomarkers for community-acquired pneumonia.

Arshad H, Alfonso JCL, Franke R, Michaelis K, Araujo L, Habib A, Zboromyrska Y, Lücke E, Strungaru E, Akmatov MK, Hatzikirou H, Meyer-Hermann M, Petersmann A, Nauck M, Brönstrup M, Bilitewski U, Abel L, Sievers J, Vila J, Illig T, Schreiber J, Pessler F.

J Transl Med. 2019 Nov 11;17(1):365. doi: 10.1186/s12967-019-2112-z.

4.

Visual Search in Behavioral Variant Frontotemporal Dementia.

Douglass A, Walterfang M, Velakoulis D, Abel L.

J Alzheimers Dis. 2019 Nov 7. doi: 10.3233/JAD-190981. [Epub ahead of print]

PMID:
31707370
5.

Bacterial safety of extended room temperature storage of thawed cryoprecipitate.

Wagner SJ, Hapip CA, Abel L.

Transfusion. 2019 Nov;59(11):3549-3550. doi: 10.1111/trf.15472. No abstract available.

PMID:
31696550
6.

Mosquito exposure and malaria morbidity; a micro-level analysis of household mosquito populations and malaria in a population-based longitudinal cohort in western Kenya.

O'Meara WP, Simmons R, Bullins P, Freedman B, Abel L, Mangeni J, Taylor SM, Obala AA.

J Infect Dis. 2019 Oct 30. pii: jiz561. doi: 10.1093/infdis/jiz561. [Epub ahead of print]

PMID:
31665350
7.

Candidate Predisposition Variants in Kaposi Sarcoma as Detected by Whole-Genome Sequencing.

Rinne SJ, Sipilä LJ, Sulo P, Jouanguy E, Béziat V, Abel L, Casanova JL, Parvaneh N, Balighi K, Guttman-Yassky E, Sarid R, Aaltonen LA, Aavikko M.

Open Forum Infect Dis. 2019 Jul 17;6(10):ofz337. doi: 10.1093/ofid/ofz337. eCollection 2019 Oct.

8.

Early Economic Evaluation of Diagnostic Technologies: Experiences of the NIHR Diagnostic Evidence Co-operatives.

Abel L, Shinkins B, Smith A, Sutton AJ, Sagoo GS, Uchegbu I, Allen AJ, Graziadio S, Moloney E, Yang Y, Hall P.

Med Decis Making. 2019 Oct;39(7):857-866. doi: 10.1177/0272989X19866415. Epub 2019 Sep 26.

9.

Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis.

Drutman SB, Haerynck F, Zhong FL, Hum D, Hernandez NJ, Belkaya S, Rapaport F, de Jong SJ, Creytens D, Tavernier SJ, Bonte K, De Schepper S, van der Werff Ten Bosch J, Lorenzo-Diaz L, Wullaert A, Bossuyt X, Orth G, Bonagura VR, Béziat V, Abel L, Jouanguy E, Reversade B, Casanova JL.

Proc Natl Acad Sci U S A. 2019 Sep 17;116(38):19055-19063. doi: 10.1073/pnas.1906184116. Epub 2019 Sep 4.

PMID:
31484767
10.

Melioidosis of the Musculoskeletal System.

Perumal R, Abel L, Samuel S, Govindaraju S.

Med Princ Pract. 2019 Sep 2. doi: 10.1159/000503021. [Epub ahead of print]

11.

High-definition transcranial direct current stimulation in anorexia nervosa: A pilot study.

Phillipou A, Kirkovski M, Castle DJ, Gurvich C, Abel LA, Miles S, Rossell SL.

Int J Eat Disord. 2019 Nov;52(11):1274-1280. doi: 10.1002/eat.23146. Epub 2019 Aug 21.

PMID:
31433523
12.

Prevalence and risk factors for latent tuberculosis infection among healthcare workers in Morocco.

Sabri A, Quistrebert J, Naji Amrani H, Abid A, Zegmout A, Abderrhamani Ghorfi I, Souhi H, Boucaid A, Benali A, Abilkassem R, Kmari M, Hassani A, Lahcen B, Siah S, Schurr E, Boisson-Dupuis S, Casanova JL, Lahlou A, Laatiris A, Louzi L, Ouarssani A, Bourazza A, Aouragh A, Mustapha B, Messaoudi N, Agader A, Cobat A, Abel L, El Baghdadi J.

PLoS One. 2019 Aug 15;14(8):e0221081. doi: 10.1371/journal.pone.0221081. eCollection 2019.

13.

A deep intronic splice mutation of STAT3 underlies hyper IgE syndrome by negative dominance.

Khourieh J, Rao G, Habib T, Avery DT, Lefèvre-Utile A, Chandesris MO, Belkadi A, Chrabieh M, Alwaseem H, Grandin V, Sarrot-Reynauld F, Sénéchal A, Lortholary O, Kong XF, Boisson-Dupuis S, Picard C, Puel A, Béziat V, Zhang Q, Abel L, Molina H, Marr N, Tangye SG, Casanova JL, Boisson B.

Proc Natl Acad Sci U S A. 2019 Aug 13;116(33):16463-16472. doi: 10.1073/pnas.1901409116. Epub 2019 Jul 25.

PMID:
31346092
14.

Pleiotropic effects for Parkin and LRRK2 in leprosy type-1 reactions and Parkinson's disease.

Fava VM, Xu YZ, Lettre G, Van Thuc N, Orlova M, Thai VH, Tao S, Croteau N, Eldeeb MA, MacDougall EJ, Cambri G, Lahiri R, Adams L, Fon EA, Trempe JF, Cobat A, Alcaïs A, Abel L, Schurr E.

Proc Natl Acad Sci U S A. 2019 Jul 30;116(31):15616-15624. doi: 10.1073/pnas.1901805116. Epub 2019 Jul 15.

15.

Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines.

Hernandez N, Bucciol G, Moens L, Le Pen J, Shahrooei M, Goudouris E, Shirkani A, Changi-Ashtiani M, Rokni-Zadeh H, Sayar EH, Reisli I, Lefevre-Utile A, Zijlmans D, Jurado A, Pholien R, Drutman S, Belkaya S, Cobat A, Boudewijns R, Jochmans D, Neyts J, Seeleuthner Y, Lorenzo-Diaz L, Enemchukwu C, Tietjen I, Hoffmann HH, Momenilandi M, Pöyhönen L, Siqueira MM, de Lima SMB, de Souza Matos DC, Homma A, Maia MLS, da Costa Barros TA, de Oliveira PMN, Mesquita EC, Gijsbers R, Zhang SY, Seligman SJ, Abel L, Hertzog P, Marr N, Martins RM, Meyts I, Zhang Q, MacDonald MR, Rice CM, Casanova JL, Jouanguy E, Bossuyt X.

J Exp Med. 2019 Sep 2;216(9):2057-2070. doi: 10.1084/jem.20182295. Epub 2019 Jul 3.

PMID:
31270247
16.

Vitamin A Supplementation Was Associated with Reduced Mortality in Patients with Ebola Virus Disease during the West African Outbreak.

Aluisio AR, Perera SM, Yam D, Garbern S, Peters JL, Abel L, Cho DK, Kennedy SB, Massaquoi M, Sahr F, Brinkmann S, Locks L, Liu T, Levine AC.

J Nutr. 2019 Oct 1;149(10):1757-1765. doi: 10.1093/jn/nxz142.

PMID:
31268140
17.

A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon.

Oleaga-Quintas C, Deswarte C, Moncada-Vélez M, Metin A, Krishna Rao I, Kanık-Yüksek S, Nieto-Patlán A, Guérin A, Gülhan B, Murthy S, Özkaya-Parlakay A, Abel L, Martínez-Barricarte R, Pérez de Diego R, Boisson-Dupuis S, Kong XF, Casanova JL, Bustamante J.

Hum Mol Genet. 2018 Nov 15;27(22):3919-3935. doi: 10.1093/hmg/ddy275. Erratum in: Hum Mol Genet. 2019 Feb 1;28(3):524.

18.

Severe influenza pneumonitis in children with inherited TLR3 deficiency.

Lim HK, Huang SXL, Chen J, Kerner G, Gilliaux O, Bastard P, Dobbs K, Hernandez N, Goudin N, Hasek ML, García Reino EJ, Lafaille FG, Lorenzo L, Luthra P, Kochetkov T, Bigio B, Boucherit S, Rozenberg F, Vedrinne C, Keller MD, Itan Y, García-Sastre A, Celard M, Orange JS, Ciancanelli MJ, Meyts I, Zhang Q, Abel L, Notarangelo LD, Snoeck HW, Casanova JL, Zhang SY.

J Exp Med. 2019 Sep 2;216(9):2038-2056. doi: 10.1084/jem.20181621. Epub 2019 Jun 19.

PMID:
31217193
19.

Inherited IL-18BP deficiency in human fulminant viral hepatitis.

Belkaya S, Michailidis E, Korol CB, Kabbani M, Cobat A, Bastard P, Lee YS, Hernandez N, Drutman S, de Jong YP, Vivier E, Bruneau J, Béziat V, Boisson B, Lorenzo-Diaz L, Boucherit S, Sebagh M, Jacquemin E, Emile JF, Abel L, Rice CM, Jouanguy E, Casanova JL.

J Exp Med. 2019 Aug 5;216(8):1777-1790. doi: 10.1084/jem.20190669. Epub 2019 Jun 18.

PMID:
31213488
20.

The Nagoya protocol and research on emerging infectious diseases.

Knauf S, Abel L, Hallmaier-Wacker LK.

Bull World Health Organ. 2019 Jun 1;97(6):379. doi: 10.2471/BLT.19.232173. No abstract available.

21.

Human inborn errors of immunity to infection affecting cells other than leukocytes: from the immune system to the whole organism.

Zhang SY, Jouanguy E, Zhang Q, Abel L, Puel A, Casanova JL.

Curr Opin Immunol. 2019 Aug;59:88-100. doi: 10.1016/j.coi.2019.03.008. Epub 2019 May 20. Review.

PMID:
31121434
22.

Homozygosity for TYK2 P1104A underlies tuberculosis in about 1% of patients in a cohort of European ancestry.

Kerner G, Ramirez-Alejo N, Seeleuthner Y, Yang R, Ogishi M, Cobat A, Patin E, Quintana-Murci L, Boisson-Dupuis S, Casanova JL, Abel L.

Proc Natl Acad Sci U S A. 2019 May 21;116(21):10430-10434. doi: 10.1073/pnas.1903561116. Epub 2019 May 8.

23.

SeqTailor: a user-friendly webserver for the extraction of DNA or protein sequences from next-generation sequencing data.

Zhang P, Boisson B, Stenson PD, Cooper DN, Casanova JL, Abel L, Itan Y.

Nucleic Acids Res. 2019 Jul 2;47(W1):W623-W631. doi: 10.1093/nar/gkz326.

24.

The challenge of antimicrobial resistance: What economics can contribute.

Roope LSJ, Smith RD, Pouwels KB, Buchanan J, Abel L, Eibich P, Butler CC, Tan PS, Walker AS, Robotham JV, Wordsworth S.

Science. 2019 Apr 5;364(6435). pii: eaau4679. doi: 10.1126/science.aau4679. Review.

PMID:
30948524
25.

Is stratification testing for treatment of chronic obstructive pulmonary disease exacerbations cost-effective in primary care? an early cost-utility analysis.

Abel L, Dakin HA, Roberts N, Ashdown HF, Butler CC, Hayward G, Van den Bruel A, Turner PJ, Yang Y.

Int J Technol Assess Health Care. 2019 Jan;35(2):116-125. doi: 10.1017/S0266462318003707. Epub 2019 Mar 4.

PMID:
30829566
26.

An Overlooked Brain Region in the Aetiology of Anorexia Nervosa: The Importance of Behaviourally Driven Neuroimaging Analysis.

Phillipou A, Castle DJ, Abel LA, Gurvich C, Rossell SL.

J Exp Neurosci. 2018 Dec 20;12:1179069518820068. doi: 10.1177/1179069518820068. eCollection 2018.

27.

Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis.

Maffucci P, Bigio B, Rapaport F, Cobat A, Borghesi A, Lopez M, Patin E, Bolze A, Shang L, Bendavid M, Scott EM, Stenson PD, Cunningham-Rundles C, Cooper DN, Gleeson JG, Fellay J, Quintana-Murci L, Casanova JL, Abel L, Boisson B, Itan Y.

Proc Natl Acad Sci U S A. 2019 Jan 15;116(3):950-959. doi: 10.1073/pnas.1808403116. Epub 2018 Dec 27.

28.

Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common TYK2 missense variant.

Boisson-Dupuis S, Ramirez-Alejo N, Li Z, Patin E, Rao G, Kerner G, Lim CK, Krementsov DN, Hernandez N, Ma CS, Zhang Q, Markle J, Martinez-Barricarte R, Payne K, Fisch R, Deswarte C, Halpern J, Bouaziz M, Mulwa J, Sivanesan D, Lazarov T, Naves R, Garcia P, Itan Y, Boisson B, Checchi A, Jabot-Hanin F, Cobat A, Guennoun A, Jackson CC, Pekcan S, Caliskaner Z, Inostroza J, Costa-Carvalho BT, de Albuquerque JAT, Garcia-Ortiz H, Orozco L, Ozcelik T, Abid A, Rhorfi IA, Souhi H, Amrani HN, Zegmout A, Geissmann F, Michnick SW, Muller-Fleckenstein I, Fleckenstein B, Puel A, Ciancanelli MJ, Marr N, Abolhassani H, Balcells ME, Condino-Neto A, Strickler A, Abarca K, Teuscher C, Ochs HD, Reisli I, Sayar EH, El-Baghdadi J, Bustamante J, Hammarström L, Tangye SG, Pellegrini S, Quintana-Murci L, Abel L, Casanova JL.

Sci Immunol. 2018 Dec 21;3(30). pii: eaau8714. doi: 10.1126/sciimmunol.aau8714.

29.

Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23.

Martínez-Barricarte R, Markle JG, Ma CS, Deenick EK, Ramírez-Alejo N, Mele F, Latorre D, Mahdaviani SA, Aytekin C, Mansouri D, Bryant VL, Jabot-Hanin F, Deswarte C, Nieto-Patlán A, Surace L, Kerner G, Itan Y, Jovic S, Avery DT, Wong N, Rao G, Patin E, Okada S, Bigio B, Boisson B, Rapaport F, Seeleuthner Y, Schmidt M, Ikinciogullari A, Dogu F, Tanir G, Tabarsi P, Bloursaz MR, Joseph JK, Heer A, Kong XF, Migaud M, Lazarov T, Geissmann F, Fleckenstein B, Arlehamn CL, Sette A, Puel A, Emile JF, van de Vosse E, Quintana-Murci L, Di Santo JP, Abel L, Boisson-Dupuis S, Bustamante J, Tangye SG, Sallusto F, Casanova JL.

Sci Immunol. 2018 Dec 21;3(30). pii: eaau6759. doi: 10.1126/sciimmunol.aau6759.

30.

Use of Decision Modelling in Economic Evaluations of Diagnostic Tests: An Appraisal and Review of Health Technology Assessments in the UK.

Yang Y, Abel L, Buchanan J, Fanshawe T, Shinkins B.

Pharmacoecon Open. 2019 Sep;3(3):281-291. doi: 10.1007/s41669-018-0109-9. Review.

31.

PopViz: a webserver for visualizing minor allele frequencies and damage prediction scores of human genetic variations.

Zhang P, Bigio B, Rapaport F, Zhang SY, Casanova JL, Abel L, Boisson B, Itan Y.

Bioinformatics. 2018 Dec 15;34(24):4307-4309. doi: 10.1093/bioinformatics/bty536.

PMID:
30535305
32.

Midbrain dysfunction in anorexia nervosa.

Phillipou A, Abel LA, Castle DJ, Gurvich C, Hughes ME, Rossell SL.

Psychiatry Res Neuroimaging. 2019 Jan 30;283:154-155. doi: 10.1016/j.pscychresns.2018.11.004. Epub 2018 Nov 6. No abstract available.

PMID:
30446356
33.

Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency.

Boisson B, Honda Y, Ajiro M, Bustamante J, Bendavid M, Gennery AR, Kawasaki Y, Ichishima J, Osawa M, Nihira H, Shiba T, Tanaka T, Chrabieh M, Bigio B, Hur H, Itan Y, Liang Y, Okada S, Izawa K, Nishikomori R, Ohara O, Heike T, Abel L, Puel A, Saito MK, Casanova JL, Hagiwara M, Yasumi T.

J Clin Invest. 2019 Feb 1;129(2):583-597. doi: 10.1172/JCI124011. Epub 2018 Dec 18.

34.

HCV-Associated Liver Fibrosis and HSD17B13.

About F, Abel L, Cobat A.

N Engl J Med. 2018 Nov 8;379(19):1875-1876. doi: 10.1056/NEJMc1804638. No abstract available.

PMID:
30403944
35.

A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon.

Oleaga-Quintas C, Deswarte C, Moncada-Vélez M, Metin A, Krishna Rao I, Kanik-Yüksek S, Nieto-Patlán A, Guérin A, Gülhan B, Murthy S, Özkaya-Parlakay A, Abel L, Martínez-Barricarte R, Pérez de Diego R, Boisson-Dupuis S, Kong XF, Casanova JL, Bustamante J.

Hum Mol Genet. 2019 Feb 1;28(3):524. doi: 10.1093/hmg/ddy357. No abstract available.

36.

Influence of apheresis collection device and container on the storage properties of platelets in 90% PAS-5/10% plasma.

Wagner SJ, Hapip CA, Turgeon A, Abel L, Kaelber N.

Blood Transfus. 2019 May;17(3):210-216. doi: 10.2450/2018.0136-18. Epub 2018 Sep 5.

37.

Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency.

Hernandez N, Melki I, Jing H, Habib T, Huang SSY, Danielson J, Kula T, Drutman S, Belkaya S, Rattina V, Lorenzo-Diaz L, Boulai A, Rose Y, Kitabayashi N, Rodero MP, Dumaine C, Blanche S, Lebras MN, Leung MC, Mathew LS, Boisson B, Zhang SY, Boisson-Dupuis S, Giliani S, Chaussabel D, Notarangelo LD, Elledge SJ, Ciancanelli MJ, Abel L, Zhang Q, Marr N, Crow YJ, Su HC, Casanova JL.

J Exp Med. 2018 Oct 1;215(10):2567-2585. doi: 10.1084/jem.20180628. Epub 2018 Aug 24.

38.

Effects of age and visual attention demands on optokinetic nystagmus suppression.

Dyer RK, Abel LA.

Exp Eye Res. 2019 Jun;183:46-51. doi: 10.1016/j.exer.2018.08.011. Epub 2018 Aug 21.

PMID:
30138608
39.

Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency.

Kong XF, Martinez-Barricarte R, Kennedy J, Mele F, Lazarov T, Deenick EK, Ma CS, Breton G, Lucero KB, Langlais D, Bousfiha A, Aytekin C, Markle J, Trouillet C, Jabot-Hanin F, Arlehamn CSL, Rao G, Picard C, Lasseau T, Latorre D, Hambleton S, Deswarte C, Itan Y, Abarca K, Moraes-Vasconcelos D, Ailal F, Ikinciogullari A, Dogu F, Benhsaien I, Sette A, Abel L, Boisson-Dupuis S, Schröder B, Nussenzweig MC, Liu K, Geissmann F, Tangye SG, Gros P, Sallusto F, Bustamante J, Casanova JL.

Nat Immunol. 2018 Sep;19(9):973-985. doi: 10.1038/s41590-018-0178-z. Epub 2018 Aug 20.

40.

Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons.

Bolze A, Boisson B, Bosch B, Antipenko A, Bouaziz M, Sackstein P, Chaker-Margot M, Barlogis V, Briggs T, Colino E, Elmore AC, Fischer A, Genel F, Hewlett A, Jedidi M, Kelecic J, Krüger R, Ku CL, Kumararatne D, Lefevre-Utile A, Loughlin S, Mahlaoui N, Markus S, Garcia JM, Nizon M, Oleastro M, Pac M, Picard C, Pollard AJ, Rodriguez-Gallego C, Thomas C, Von Bernuth H, Worth A, Meyts I, Risolino M, Selleri L, Puel A, Klinge S, Abel L, Casanova JL.

Proc Natl Acad Sci U S A. 2018 Aug 21;115(34):E8007-E8016. doi: 10.1073/pnas.1805437115. Epub 2018 Aug 2.

41.

The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses.

de Jong SJ, Créquer A, Matos I, Hum D, Gunasekharan V, Lorenzo L, Jabot-Hanin F, Imahorn E, Arias AA, Vahidnezhad H, Youssefian L, Markle JG, Patin E, D'Amico A, Wang CQF, Full F, Ensser A, Leisner TM, Parise LV, Bouaziz M, Maya NP, Cadena XR, Saka B, Saeidian AH, Aghazadeh N, Zeinali S, Itin P, Krueger JG, Laimins L, Abel L, Fuchs E, Uitto J, Franco JL, Burger B, Orth G, Jouanguy E, Casanova JL.

J Exp Med. 2018 Sep 3;215(9):2289-2310. doi: 10.1084/jem.20170308. Epub 2018 Aug 1.

42.

Human genetic variants and age are the strongest predictors of humoral immune responses to common pathogens and vaccines.

Scepanovic P, Alanio C, Hammer C, Hodel F, Bergstedt J, Patin E, Thorball CW, Chaturvedi N, Charbit B, Abel L, Quintana-Murci L, Duffy D, Albert ML, Fellay J; Milieu Intérieur Consortium.

Genome Med. 2018 Jul 27;10(1):59. doi: 10.1186/s13073-018-0568-8.

43.

Behavioral Variant Frontotemporal Dementia Performance on a Range of Saccadic Tasks.

Douglass A, Walterfang M, Velakoulis D, Abel L.

J Alzheimers Dis. 2018;65(1):231-242. doi: 10.3233/JAD-170797.

PMID:
30040708
44.

Is experience in multi-genre video game playing accompanied by impulsivity?

Azizi E, Stainer MJ, Abel LA.

Acta Psychol (Amst). 2018 Oct;190:78-84. doi: 10.1016/j.actpsy.2018.07.006. Epub 2018 Jul 19.

PMID:
30031355
45.

CDG: An Online Server for Detecting Biologically Closest Disease-Causing Genes and its Application to Primary Immunodeficiency.

Requena D, Maffucci P, Bigio B, Shang L, Abhyankar A, Boisson B, Stenson PD, Cooper DN, Cunningham-Rundles C, Casanova JL, Abel L, Itan Y.

Front Immunol. 2018 Jun 27;9:1340. doi: 10.3389/fimmu.2018.01340. eCollection 2018.

46.

A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency.

Rosain J, Oleaga-Quintas C, Deswarte C, Verdin H, Marot S, Syridou G, Mansouri M, Mahdaviani SA, Venegas-Montoya E, Tsolia M, Mesdaghi M, Chernyshova L, Stepanovskiy Y, Parvaneh N, Mansouri D, Pedraza-Sánchez S, Bondarenko A, Espinosa-Padilla SE, Yamazaki-Nakashimada MA, Nieto-Patlán A, Kerner G, Lambert N, Jacques C, Corvilain E, Migaud M, Grandin V, Herrera MT, Jabot-Hanin F, Boisson-Dupuis S, Picard C, Nitschke P, Puel A, Tores F, Abel L, Blancas-Galicia L, De Baere E, Bole-Feysot C, Casanova JL, Bustamante J.

J Clin Immunol. 2018 Jul;38(5):617-627. doi: 10.1007/s10875-018-0527-6. Epub 2018 Jul 11. Review.

47.

Inherited p40phox deficiency differs from classic chronic granulomatous disease.

van de Geer A, Nieto-Patlán A, Kuhns DB, Tool AT, Arias AA, Bouaziz M, de Boer M, Franco JL, Gazendam RP, van Hamme JL, van Houdt M, van Leeuwen K, Verkuijlen PJ, van den Berg TK, Alzate JF, Arango-Franco CA, Batura V, Bernasconi AR, Boardman B, Booth C, Burns SO, Cabarcas F, Bensussan NC, Charbit-Henrion F, Corveleyn A, Deswarte C, Azcoiti ME, Foell D, Gallin JI, Garcés C, Guedes M, Hinze CH, Holland SM, Hughes SM, Ibañez P, Malech HL, Meyts I, Moncada-Velez M, Moriya K, Neves E, Oleastro M, Perez L, Rattina V, Oleaga-Quintas C, Warner N, Muise AM, López JS, Trindade E, Vasconcelos J, Vermeire S, Wittkowski H, Worth A, Abel L, Dinauer MC, Arkwright PD, Roos D, Casanova JL, Kuijpers TW, Bustamante J.

J Clin Invest. 2018 Aug 31;128(9):3957-3975. doi: 10.1172/JCI97116. Epub 2018 Aug 6.

48.

White matter microstructure in anorexia nervosa.

Phillipou A, Carruthers SP, Di Biase MA, Zalesky A, Abel LA, Castle DJ, Gurvich C, Rossell SL.

Hum Brain Mapp. 2018 Nov;39(11):4385-4392. doi: 10.1002/hbm.24279. Epub 2018 Jul 2.

PMID:
29964345
49.

Quantifying intervals to diagnosis in myeloma: a systematic review and meta-analysis.

Koshiaris C, Oke J, Abel L, Nicholson BD, Ramasamy K, Van den Bruel A.

BMJ Open. 2018 Jun 22;8(6):e019758. doi: 10.1136/bmjopen-2017-019758.

50.

A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity.

Béziat V, Li J, Lin JX, Ma CS, Li P, Bousfiha A, Pellier I, Zoghi S, Baris S, Keles S, Gray P, Du N, Wang Y, Zerbib Y, Lévy R, Leclercq T, About F, Lim AI, Rao G, Payne K, Pelham SJ, Avery DT, Deenick EK, Pillay B, Chou J, Guery R, Belkadi A, Guérin A, Migaud M, Rattina V, Ailal F, Benhsaien I, Bouaziz M, Habib T, Chaussabel D, Marr N, El-Benna J, Grimbacher B, Wargon O, Bustamante J, Boisson B, Müller-Fleckenstein I, Fleckenstein B, Chandesris MO, Titeux M, Fraitag S, Alyanakian MA, Leruez-Ville M, Picard C, Meyts I, Di Santo JP, Hovnanian A, Somer A, Ozen A, Rezaei N, Chatila TA, Abel L, Leonard WJ, Tangye SG, Puel A, Casanova JL.

Sci Immunol. 2018 Jun 15;3(24). pii: eaat4956. doi: 10.1126/sciimmunol.aat4956.

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