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Page 1
Mosaicism for a KITLG Mutation in Linear and Whorled Nevoid Hypermelanosis.
Sorlin A, Maruani A, Aubriot-Lorton MH, Kuentz P, Duffourd Y, Teysseire S, Carmignac V, St-Onge J, Chevarin M, Jouan T, Thauvin-Robinet C, Thevenon J, Faivre L, Rivière JB, Vabres P. Sorlin A, et al. J Invest Dermatol. 2017 Jul;137(7):1575-1578. doi: 10.1016/j.jid.2017.01.035. Epub 2017 Feb 28. J Invest Dermatol. 2017. PMID: 28257793 Free article. No abstract available.
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals.
Sabbagh Q, Haghshenas S, Piard J, Trouvé C, Amiel J, Attié-Bitach T, Balci T, Barat-Houari M, Belonis A, Boute O, Brightman DS, Bruel AL, Caraffi SG, Chatron N, Collet C, Dufour W, Edery P, Fong CT, Fusco C, Gatinois V, Gouy E, Guerrot AM, Heide S, Joshi A, Karp N, Keren B, Lesieur-Sebellin M, Levy J, Levy MA, Lozano C, Lyonnet S, Margot H, Marzin P, McConkey H, Michaud V, Nicolas G, Nizard M, Paulet A, Peluso F, Pernin V, Perrin L, Philippe C, Prasad C, Prasad M, Relator R, Rio M, Rondeau S, Ruault V, Ruiz-Pallares N, Sanchez E, Shears D, Siu VM, Sorlin A, Tedder M, Tharreau M, Mau-Them FT, van der Laan L, Van Gils J, Verloes A, Whalen S, Willems M, Yauy K, Zuntini R, Kerkhof J, Sadikovic B, Geneviève D. Sabbagh Q, et al. Among authors: sorlin a. Genet Med. 2024 Jan;26(1):101007. doi: 10.1016/j.gim.2023.101007. Epub 2023 Oct 17. Genet Med. 2024. PMID: 37860968
Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish.
Patterson V, Ullah F, Bryant L, Griffin JN, Sidhu A, Saliganan S, Blaile M, Saenz MS, Smith R, Ellingwood S, Grange DK, Hu X, Mireguli M, Luo Y, Shen Y, Mulhern M, Zackai E, Ritter A, Izumi K, Hoefele J, Wagner M, Riedhammer KM, Seitz B, Robin NH, Goodloe D, Mignot C, Keren B, Cox H, Jarvis J, Hempel M, Gibson CF, Tran Mau-Them F, Vitobello A, Bruel AL, Sorlin A, Mehta S, Raymond FL, Gilmore K, Powell BC, Weck K, Li C, Vulto-van Silfhout AT, Giacomini T, Mancardi MM, Accogli A, Salpietro V, Zara F, Vora NL, Davis EE, Burdine R, Bhoj E. Patterson V, et al. Among authors: sorlin a. Sci Adv. 2023 Apr 28;9(17):eade0631. doi: 10.1126/sciadv.ade0631. Epub 2023 Apr 26. Sci Adv. 2023. PMID: 37126546 Free PMC article.
Genetic causes of macrozoospermia and proposal for an optimized genetic diagnosis strategy based on sperm parameters.
Coudert A, Cazin C, Amiri-Yekta A, Fourati Ben Mustapha S, Zouari R, Bessonat J, Zoghmar A, Clergeau A, Metzler-Guillemain C, Triki C, Lejeune H, Sermondade N, Pipiras E, Prisant N, Cedrin I, Koscinski I, Keskes L, Lestrade F, Hesters L, Rives N, Dorphin B, Guichet A, Patrat C, Dulioust E, Feraille A, Robert F, Brouillet S, Morel F, Perrin A, Rougier N, Bieth E, Sorlin A, Siffroi JP, Ben Khelifa M, Boiterelle F, Hennebicq S, Satre V, Arnoult C, Coutton C, Barbotin AL, Thierry-Mieg N, Kherraf ZE, Ray PF. Coudert A, et al. Among authors: sorlin a. J Genet Genomics. 2023 Jul;50(7):536-540. doi: 10.1016/j.jgg.2023.04.007. Epub 2023 Apr 26. J Genet Genomics. 2023. PMID: 37116580 No abstract available.
Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.
Goldenberg A, Riccardi F, Tessier A, Pfundt R, Busa T, Cacciagli P, Capri Y, Coutton C, Delahaye-Duriez A, Frebourg T, Gatinois V, Guerrot AM, Genevieve D, Lecoquierre F, Jacquette A, Khau Van Kien P, Leheup B, Marlin S, Verloes A, Michaud V, Nadeau G, Mignot C, Parent P, Rossi M, Toutain A, Schaefer E, Thauvin-Robinet C, Van Maldergem L, Thevenon J, Satre V, Perrin L, Vincent-Delorme C, Sorlin A, Missirian C, Villard L, Mancini J, Saugier-Veber P, Philip N. Goldenberg A, et al. Among authors: sorlin a. Am J Med Genet A. 2016 Nov;170(11):2847-2859. doi: 10.1002/ajmg.a.37878. Epub 2016 Sep 8. Am J Med Genet A. 2016. PMID: 27605097
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.
Kuentz P, St-Onge J, Duffourd Y, Courcet JB, Carmignac V, Jouan T, Sorlin A, Abasq-Thomas C, Albuisson J, Amiel J, Amram D, Arpin S, Attie-Bitach T, Bahi-Buisson N, Barbarot S, Baujat G, Bessis D, Boccara O, Bonnière M, Boute O, Bursztejn AC, Chiaverini C, Cormier-Daire V, Coubes C, Delobel B, Edery P, Chehadeh SE, Francannet C, Geneviève D, Goldenberg A, Haye D, Isidor B, Jacquemont ML, Khau Van Kien P, Lacombe D, Martin L, Martinovic J, Maruani A, Mathieu-Dramard M, Mazereeuw-Hautier J, Michot C, Mignot C, Miquel J, Morice-Picard F, Petit F, Phan A, Rossi M, Touraine R, Verloes A, Vincent M, Vincent-Delorme C, Whalen S, Willems M, Marle N, Lehalle D, Thevenon J, Thauvin-Robinet C, Hadj-Rabia S, Faivre L, Vabres P, Rivière JB. Kuentz P, et al. Among authors: sorlin a. Genet Med. 2017 Sep;19(9):989-997. doi: 10.1038/gim.2016.220. Epub 2017 Feb 2. Genet Med. 2017. PMID: 28151489 Free article.
Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests.
Thauvin-Robinet C, Thevenon J, Nambot S, Delanne J, Kuentz P, Bruel AL, Chassagne A, Cretin E, Pelissier A, Peyron C, Gautier E, Lehalle D, Jean-Marçais N, Callier P, Mosca-Boidron AL, Vitobello A, Sorlin A, Tran Mau-Them F, Philippe C, Vabres P, Demougeot L, Poé C, Jouan T, Chevarin M, Lefebvre M, Bardou M, Tisserant E, Luu M, Binquet C, Deleuze JF, Verstuyft C, Duffourd Y, Faivre L. Thauvin-Robinet C, et al. Among authors: sorlin a. Eur J Hum Genet. 2019 Aug;27(8):1197-1214. doi: 10.1038/s41431-019-0384-7. Epub 2019 Apr 24. Eur J Hum Genet. 2019. PMID: 31019283 Free PMC article.
Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants.
Lecoquierre F, Duffourd Y, Vitobello A, Bruel AL, Urteaga B, Coubes C, Garret P, Nambot S, Chevarin M, Jouan T, Moutton S; Orphanomix Physician’s Group; Tran-Mau-Them F, Philippe C, Sorlin A, Faivre L, Thauvin-Robinet C. Lecoquierre F, et al. Among authors: sorlin a. Genet Med. 2019 Nov;21(11):2504-2511. doi: 10.1038/s41436-019-0518-x. Epub 2019 Apr 30. Genet Med. 2019. PMID: 31036916 Free article.
Hearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new cases.
Lehalle D, Colombo R, O'Grady M, Héron B, Houcinat N, Kuentz P, Moutton S, Sorlin A, Thevenon J, Delanne J, Gay S, Racine C, Garde A, Tran Mau-Them F, Philippe C, Vitobello A, Nambot S, Huet F, Duffourd Y, Feillet F, Thauvin-Robinet C, Marlin S, Faivre L. Lehalle D, et al. Among authors: sorlin a. Am J Med Genet A. 2019 Sep;179(9):1756-1763. doi: 10.1002/ajmg.a.61273. Epub 2019 Jun 26. Am J Med Genet A. 2019. PMID: 31241255
Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light.
Garret P, Bris C, Procaccio V, Amati-Bonneau P, Vabres P, Houcinat N, Tisserant E, Feillet F, Bruel AL, Quéré V, Philippe C, Sorlin A, Tran Mau-Them F, Vitobello A, Costa JM, Boughalem A, Trost D, Faivre L, Thauvin-Robinet C, Duffourd Y. Garret P, et al. Among authors: sorlin a. Hum Mutat. 2019 Dec;40(12):2430-2443. doi: 10.1002/humu.23885. Epub 2019 Aug 26. Hum Mutat. 2019. PMID: 31379041
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