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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1995 1
1996 3
1997 5
1998 3
1999 3
2000 3
2001 7
2002 1
2004 2
2005 3
2006 2
2007 3
2008 3
2009 4
2010 5
2011 4
2012 5
2013 8
2014 4
2015 4
2016 2
2017 2
2018 4
2019 8
2020 4
2021 6
2022 10
2023 7
2024 14

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114 results

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Page 1
Functional classification of ATM variants in ataxia-telangiectasia patients.
Fiévet A, Bellanger D, Rieunier G, Dubois d'Enghien C, Sophie J, Calvas P, Carriere JP, Anheim M, Castrioto A, Flabeau O, Degos B, Ewenczyk C, Mahlaoui N, Touzot F, Suarez F, Hully M, Roubertie A, Aladjidi N, Tison F, Antoine-Poirel H, Dahan K, Doummar D, Nougues MC, Ioos C, Rougeot C, Masurel A, Bourjault C, Ginglinger E, Prieur F, Siri A, Bordigoni P, Nguyen K, Philippe N, Bellesme C, Demeocq F, Altuzarra C, Mathieu-Dramard M, Couderc F, Dörk T, Auger N, Parfait B, Abidallah K, Moncoutier V, Collet A, Stoppa-Lyonnet D, Stern MH. Fiévet A, et al. Among authors: parfait b. Hum Mutat. 2019 Oct;40(10):1713-1730. doi: 10.1002/humu.23778. Epub 2019 May 17. Hum Mutat. 2019. PMID: 31050087
Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis.
Louvrier C, Pasmant E, Briand-Suleau A, Cohen J, Nitschké P, Nectoux J, Orhant L, Zordan C, Goizet C, Goutagny S, Lallemand D, Vidaud M, Vidaud D, Kalamarides M, Parfait B. Louvrier C, et al. Among authors: parfait b. Neuro Oncol. 2018 Jun 18;20(7):917-929. doi: 10.1093/neuonc/noy009. Neuro Oncol. 2018. PMID: 29409008 Free PMC article.
Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?
Pasmant E, Parfait B, Luscan A, Goussard P, Briand-Suleau A, Laurendeau I, Fouveaut C, Leroy C, Montadert A, Wolkenstein P, Vidaud M, Vidaud D. Pasmant E, et al. Among authors: parfait b. Eur J Hum Genet. 2015 May;23(5):596-601. doi: 10.1038/ejhg.2014.145. Epub 2014 Jul 30. Eur J Hum Genet. 2015. PMID: 25074460 Free PMC article.
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.
Matuozzo D, Talouarn E, Marchal A, Zhang P, Manry J, Seeleuthner Y, Zhang Y, Bolze A, Chaldebas M, Milisavljevic B, Gervais A, Bastard P, Asano T, Bizien L, Barzaghi F, Abolhassani H, Abou Tayoun A, Aiuti A, Alavi Darazam I, Allende LM, Alonso-Arias R, Arias AA, Aytekin G, Bergman P, Bondesan S, Bryceson YT, Bustos IG, Cabrera-Marante O, Carcel S, Carrera P, Casari G, Chaïbi K, Colobran R, Condino-Neto A, Covill LE, Delmonte OM, El Zein L, Flores C, Gregersen PK, Gut M, Haerynck F, Halwani R, Hancerli S, Hammarström L, Hatipoğlu N, Karbuz A, Keles S, Kyheng C, Leon-Lopez R, Franco JL, Mansouri D, Martinez-Picado J, Metin Akcan O, Migeotte I, Morange PE, Morelle G, Martin-Nalda A, Novelli G, Novelli A, Ozcelik T, Palabiyik F, Pan-Hammarström Q, de Diego RP, Planas-Serra L, Pleguezuelo DE, Prando C, Pujol A, Reyes LF, Rivière JG, Rodriguez-Gallego C, Rojas J, Rovere-Querini P, Schlüter A, Shahrooei M, Sobh A, Soler-Palacin P, Tandjaoui-Lambiotte Y, Tipu I, Tresoldi C, Troya J, van de Beek D, Zatz M, Zawadzki P, Al-Muhsen SZ, Alosaimi MF, Alsohime FM, Baris-Feldman H, Butte MJ, Constantinescu SN, Cooper MA, Dalgard CL, Fellay J, Heath JR, Lau YL, Lifton RP, Maniatis T, Mogensen TH, v… See abstract for full author list ➔ Matuozzo D, et al. Genome Med. 2023 Apr 5;15(1):22. doi: 10.1186/s13073-023-01173-8. Genome Med. 2023. PMID: 37020259 Free PMC article.
MEK-SHP2 inhibition prevents tibial pseudarthrosis caused by NF1 loss in Schwann cells and skeletal stem/progenitor cells.
Perrin S, Protic S, Bretegnier V, Laurendeau I, de Lageneste OD, Panara N, Ruckebusch O, Luka M, Masson C, Maillard T, Coulpier F, Pannier S, Wicart P, Hadj-Rabia S, Radomska KJ, Zarhrate M, Ménager M, Vidaud D, Topilko P, Parfait B, Colnot C. Perrin S, et al. Among authors: parfait b. Sci Transl Med. 2024 Jun 26;16(753):eadj1597. doi: 10.1126/scitranslmed.adj1597. Epub 2024 Jun 26. Sci Transl Med. 2024. PMID: 38924432 Free article.
Serum and Salivary IgG and IgA Response After COVID-19 Messenger RNA Vaccination.
Gorochov G, Ropers J, Launay O, Dorgham K, da Mata-Jardin O, Lebbah S, Durier C, Bauer R, Radenne A, Desaint C, Vieillard LV, Rekacewicz C, Lachatre M, Parfait B, Batteux F, Hupé P, Ninove L, Lefebvre M, Conrad A, Dussol B, Maakaroun-Vermesse Z, Melica G, Nicolas JF, Verdon R, Kiladjian JJ, Loubet P, Schmidt-Mutter C, Dualé C, Ansart S, Botelho-Nevers E, Lelièvre JD, de Lamballerie X, Kieny MP, Tartour E, Paul S. Gorochov G, et al. Among authors: parfait b. JAMA Netw Open. 2024 Apr 1;7(4):e248051. doi: 10.1001/jamanetworkopen.2024.8051. JAMA Netw Open. 2024. PMID: 38652471 Free PMC article.
Usefulness and analytical performances of complement multiplex assay for measuring complement biomarkers in plasma.
Meuleman MS, Duval A, Grunenwald A, Rezola Artero M, Dermani M, Peliconi J, Revel M, Vieira-Martins P, Courbebaisse M, Parfait B, Lebeaux D, Friedlander G, Roumenina L, Chauvet S, Frémeaux-Bacchi V, Dragon-Durey MA. Meuleman MS, et al. Among authors: parfait b. Clin Chim Acta. 2024 Feb 1;554:117750. doi: 10.1016/j.cca.2023.117750. Epub 2024 Jan 2. Clin Chim Acta. 2024. PMID: 38176523 Free article.
Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection.
Marchal A, Cirulli ET, Neveux I, Bellos E, Thwaites RS, Schiabor Barrett KM, Zhang Y, Nemes-Bokun I, Kalinova M, Catchpole A, Tangye SG, Spaan AN, Lack JB, Ghosn J, Burdet C, Gorochov G, Tubach F, Hausfater P; COVID Human Genetic Effort; COVIDeF Study Group; French COVID Cohort Study Group; CoV-Contact Cohort; COVID-STORM Clinicians; COVID Clinicians; Orchestra Working Group; Amsterdam UMC COVID-19 Biobank; NIAID-USUHS COVID Study Group; Dalgard CL, Zhang SY, Zhang Q, Chiu C, Fellay J, Grzymski JJ, Sancho-Shimizu V, Abel L, Casanova JL, Cobat A, Bolze A. Marchal A, et al. HGG Adv. 2024 Jul 18;5(3):100300. doi: 10.1016/j.xhgg.2024.100300. Epub 2024 Apr 26. HGG Adv. 2024. PMID: 38678364 Free PMC article.
Cytokine profile of anti-spike CD4+T cells predicts humoral and CD8+T cell responses after anti-SARS-CoV-2 mRNA vaccination.
Benhamouda N, Besbes A, Bauer R, Mabrouk N, Gadouas G, Desaint C, Chevrier L, Lefebvre M, Radenne A, Roelens M, Parfait B, Weiskopf D, Sette A, Gruel N, Courbebaisse M, Appay V, Paul S, Gorochov G, Ropers J, Lebbah S, Lelievre JD, Johannes L, Ulmer J, Lebeaux D, Friedlander G, De Lamballerie X, Ravel P, Kieny MP, Batteux F, Durier C, Launay O, Tartour E. Benhamouda N, et al. Among authors: parfait b. iScience. 2024 Jul 2;27(8):110441. doi: 10.1016/j.isci.2024.110441. eCollection 2024 Aug 16. iScience. 2024. PMID: 39104410 Free PMC article.
114 results