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ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
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.
A new MHC-linked susceptibility locus for primary Sjögren's syndrome: MICA.
Carapito R, Gottenberg JE, Kotova I, Untrau M, Michel S, Naegely L, Aouadi I, Kwemou M, Paul N, Pichot A, Locke J, Bowman SJ, Griffiths B, Sivils KL, Sibilia J, Inoko H, Micelli-Richard C, Nocturne G, Ota M, Ng WF, Mariette X, Bahram S.
Carapito R, et al. Among authors: naegely l.
Hum Mol Genet. 2017 Jul 1;26(13):2565-2576. doi: 10.1093/hmg/ddx135.
Hum Mol Genet. 2017.
PMID: 28379387
Free PMC article.
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Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.
Carapito R, Konantz M, Paillard C, Miao Z, Pichot A, Leduc MS, Yang Y, Bergstrom KL, Mahoney DH, Shardy DL, Alsaleh G, Naegely L, Kolmer A, Paul N, Hanauer A, Rolli V, Müller JS, Alghisi E, Sauteur L, Macquin C, Morlon A, Sancho CS, Amati-Bonneau P, Procaccio V, Mosca-Boidron AL, Marle N, Osmani N, Lefebvre O, Goetz JG, Unal S, Akarsu NA, Radosavljevic M, Chenard MP, Rialland F, Grain A, Béné MC, Eveillard M, Vincent M, Guy J, Faivre L, Thauvin-Robinet C, Thevenon J, Myers K, Fleming MD, Shimamura A, Bottollier-Lemallaz E, Westhof E, Lengerke C, Isidor B, Bahram S.
Carapito R, et al. Among authors: naegely l.
J Clin Invest. 2017 Nov 1;127(11):4090-4103. doi: 10.1172/JCI92876. Epub 2017 Oct 3.
J Clin Invest. 2017.
PMID: 28972538
Free PMC article.
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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: naegely l.
Am J Hum Genet. 2020 Jan 2;106(1):137. doi: 10.1016/j.ajhg.2019.11.014. Epub 2019 Dec 24.
Am J Hum Genet. 2020.
PMID: 31879022
Free PMC article.
No abstract available.
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Multiomics of three hematological malignancies in a patient reveal their origin from clonal hematopoietic stem cells.
Mayeur S, Molitor A, Miguet L, Rigolot L, Naegely L, Stemmelen T, Meyer S, Toussaint E, Vallat L, Eischen A, Chenard MP, Tavian M, Bahram S, Carapito R, Nicolae A.
Mayeur S, et al. Among authors: naegely l.
Blood Cancer J. 2023 Aug 9;13(1):118. doi: 10.1038/s41408-023-00892-w.
Blood Cancer J. 2023.
PMID: 37558702
Free PMC article.
No abstract available.
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