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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: pichot 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.
A pleiotropic recurrent dominant ITPR3 variant causes a complex multisystemic disease.
Molitor A, Lederle A, Radosavljevic M, Sapuru V, Zavorka Thomas ME, Yang J, Shirin M, Collin-Bund V, Jerabkova-Roda K, Miao Z, Bernard A, Rolli V, Grenot P, Castro CN, Rosenzwajg M, Lewis EG, Person R, Esperón-Moldes US, Kaare M, Nokelainen PT, Batzir NA, Hoffer GZ, Paul N, Stemmelen T, Naegely L, Hanauer A, Bibi-Triki S, Grün S, Jung S, Busnelli I, Tripolszki K, Al-Ali R, Ordonez N, Bauer P, Song E, Zajo K, Partida-Sanchez S, Robledo-Avila F, Kumanovics A, Louzoun Y, Hirschler A, Pichot A, Toker O, Mejía CAM, Parvaneh N, Knapp E, Hersh JH, Kenney H, Delmonte OM, Notarangelo LD, Goetz JG, Kahwash SB, Carapito C, Bajwa RPS, Thomas C, Ehl S, Isidor B, Carapito R, Abraham RS, Hite RK, Marcus N, Bertoli-Avella A, Bahram S. Molitor A, et al. Among authors: pichot a. Sci Adv. 2024 Sep 13;10(37):eado5545. doi: 10.1126/sciadv.ado5545. Epub 2024 Sep 13. Sci Adv. 2024. PMID: 39270020 Free PMC article.
Platelets favor the outgrowth of established metastases.
Garcia-Leon MJ, Liboni C, Mittelheisser V, Bochler L, Follain G, Mouriaux C, Busnelli I, Larnicol A, Colin F, Peralta M, Osmani N, Gensbittel V, Bourdon C, Samaniego R, Pichot A, Paul N, Molitor A, Carapito R, Jandrot-Perrus M, Lefebvre O, Mangin PH, Goetz JG. Garcia-Leon MJ, et al. Among authors: pichot a. Nat Commun. 2024 May 13;15(1):3297. doi: 10.1038/s41467-024-47516-w. Nat Commun. 2024. PMID: 38740748 Free PMC article.
Peripheral positioning of lysosomes supports melanoma aggressiveness.
Jerabkova-Roda K, Peralta M, Huang KJ, Mousson A, Bourgeat Maudru C, Bochler L, Busnelli I, Karali R, Justiniano H, Lisii LM, Carl P, Mittelheisser V, Asokan N, Larnicol A, Lefebvre O, Lachuer H, Pichot A, Stemmelen T, Molitor A, Scheid L, Frenger Q, Gros F, Hirschler A, Delalande F, Sick E, Carapito R, Carapito C, Lipsker D, Schauer K, Rondé P, Hyenne V, Goetz JG. Jerabkova-Roda K, et al. Among authors: pichot a. Nat Commun. 2025 Apr 9;16(1):3375. doi: 10.1038/s41467-025-58528-5. Nat Commun. 2025. PMID: 40204688 Free PMC article.
RICTOR variants are associated with neurodevelopmental disorders.
Carapito R, Molitor A, Pavinato L, Skeyni A, Lambert M, Pichot A, Jiang J, Spinnhirny P, Zimmermann L, Boucher P, Chung CWT, Elserafy N, Blair EM, Li D, Elisabeth B, Kotzaeridou U, Karch S, Wagner M, Lunsing RJ, Pfundt R, Boycott KM, Bruel AL, Mau-Them FT, Moutton S, Conti V, Mei D, Cetica V, Guerrini R, Brunet T, Rump P, Mussa A, Brusco A, Lemire G, de Vries BBA, Miao Z, Isidor B, Bahram S. Carapito R, et al. Among authors: pichot a. Eur J Hum Genet. 2025 Jul;33(7):966-972. doi: 10.1038/s41431-024-01774-w. Epub 2024 Dec 30. Eur J Hum Genet. 2025. PMID: 39738822
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: pichot a. 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.
Temporal multiomic modeling reveals a B-cell receptor proliferative program in chronic lymphocytic leukemia.
Schleiss C, Carapito R, Fornecker LM, Muller L, Paul N, Tahar O, Pichot A, Tavian M, Nicolae A, Miguet L, Mauvieux L, Herbrecht R, Cianferani S, Freund JN, Carapito C, Maumy-Bertrand M, Bahram S, Bertrand F, Vallat L. Schleiss C, et al. Among authors: pichot a. Leukemia. 2021 May;35(5):1463-1474. doi: 10.1038/s41375-021-01221-5. Epub 2021 Apr 8. Leukemia. 2021. PMID: 33833385 Free PMC article.
Nanomaterials Trigger Functional Anti-Tumoral Responses in Primary Human Immune Cells.
Mittelheisser V, Lefebvre O, Banerjee M, Ghosh S, Dupas A, Diringer MC, Blumberger J, Bochler L, Harlepp S, Larnicol A, Pichot A, Stemmelen T, Molitor A, Moritz C, Carapito C, Carapito R, Charbonnière LJ, Lux F, Tillement O, Goetz JG, Detappe A. Mittelheisser V, et al. Among authors: pichot a. Adv Sci (Weinh). 2025 Jul 12:e05729. doi: 10.1002/advs.202505729. Online ahead of print. Adv Sci (Weinh). 2025. PMID: 40652336
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: pichot a. Hum Mol Genet. 2017 Jul 1;26(13):2565-2576. doi: 10.1093/hmg/ddx135. Hum Mol Genet. 2017. PMID: 28379387 Free PMC article.
49 results