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Page 1
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Carapito R, Ivanova EL, Morlon A, Meng L, Molitor A, Erdmann E, Kieffer B, Pichot A, Naegely L, Kolmer A, Paul N, Hanauer A, Tran Mau-Them F, Jean-Marçais N, Hiatt SM, Cooper GM, Tvrdik T, Muir AM, Dimartino C, Chopra M, Amiel J, Gordon CT, Dutreux F, Garde A, Thauvin-Robinet C, Wang X, Leduc MS, Phillips M, Crawford HP, Kukolich MK, Hunt D, Harrison V, Kharbanda M; Deciphering Developmental Disorders Study; University of Washington Center for Mendelian Genomics; Smigiel R, Gold N, Hung CY, Viskochil DH, Dugan SL, Bayrak-Toydemir P, Joly-Helas G, Guerrot AM, Schluth-Bolard C, Rio M, Wentzensen IM, McWalter K, Schnur RE, Lewis AM, Lalani SR, Mensah-Bonsu N, Céraline J, Sun Z, Ploski R, Bacino CA, Mefford HC, Faivre L, Bodamer O, Chelly J, Isidor B, Bahram S. Carapito R, et al. Among authors: molitor a. Am J Hum Genet. 2019 Feb 7;104(2):319-330. doi: 10.1016/j.ajhg.2018.12.007. Epub 2019 Jan 10. Am J Hum Genet. 2019. PMID: 30639322 Free PMC article.
NCKAP1L defects lead to a novel syndrome combining immunodeficiency, lymphoproliferation, and hyperinflammation.
Castro CN, Rosenzwajg M, Carapito R, Shahrooei M, Konantz M, Khan A, Miao Z, Groß M, Tranchant T, Radosavljevic M, Paul N, Stemmelen T, Pitoiset F, Hirschler A, Nespola B, Molitor A, Rolli V, Pichot A, Faletti LE, Rinaldi B, Friant S, Mednikov M, Karauzum H, Aman MJ, Carapito C, Lengerke C, Ziaee V, Eyaid W, Ehl S, Alroqi F, Parvaneh N, Bahram S. Castro CN, et al. Among authors: molitor a. J Exp Med. 2020 Dec 7;217(12):e20192275. doi: 10.1084/jem.20192275. J Exp Med. 2020. PMID: 32766723 Free PMC article.
Progressive multifocal leukoencephalopathy and sarcoidosis under interleukin 7: The price of healing.
Guffroy A, Solis M, Gies V, Dieudonne Y, Kuhnert C, Lenormand C, Kremer L, Molitor A, Carapito R, Hansmann Y, Poindron V, Martin T, Hirschi S, Korganow AS. Guffroy A, et al. Among authors: molitor a. Neurol Neuroimmunol Neuroinflamm. 2020 Aug 11;7(5):e862. doi: 10.1212/NXI.0000000000000862. Print 2020 Sep. Neurol Neuroimmunol Neuroinflamm. 2020. PMID: 32788393 Free PMC article. Review.
Identification of driver genes for critical forms of COVID-19 in a deeply phenotyped young patient cohort.
Carapito R, Li R, Helms J, Carapito C, Gujja S, Rolli V, Guimaraes R, Malagon-Lopez J, Spinnhirny P, Lederle A, Mohseninia R, Hirschler A, Muller L, Bastard P, Gervais A, Zhang Q, Danion F, Ruch Y, Schenck M, Collange O, Chamaraux-Tran TN, Molitor A, Pichot A, Bernard A, Tahar O, Bibi-Triki S, Wu H, Paul N, Mayeur S, Larnicol A, Laumond G, Frappier J, Schmidt S, Hanauer A, Macquin C, Stemmelen T, Simons M, Mariette X, Hermine O, Fafi-Kremer S, Goichot B, Drenou B, Kuteifan K, Pottecher J, Mertes PM, Kailasan S, Aman MJ, Pin E, Nilsson P, Thomas A, Viari A, Sanlaville D, Schneider F, Sibilia J, Tharaux PL, Casanova JL, Hansmann Y, Lidar D, Radosavljevic M, Gulcher JR, Meziani F, Moog C, Chittenden TW, Bahram S. Carapito R, et al. Among authors: molitor a. Sci Transl Med. 2022 Jan 19;14(628):eabj7521. doi: 10.1126/scitranslmed.abj7521. Epub 2022 Jan 19. Sci Transl Med. 2022. PMID: 34698500 Free article.
90 results