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2001 2
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82 results

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Page 1
16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.
Allach El Khattabi L, Heide S, Caberg JH, Andrieux J, Doco Fenzy M, Vincent-Delorme C, Callier P, Chantot-Bastaraud S, Afenjar A, Boute-Benejean O, Cordier MP, Faivre L, Francannet C, Gerard M, Goldenberg A, Masurel-Paulet A, Mosca-Boidron AL, Marle N, Moncla A, Le Meur N, Mathieu-Dramard M, Plessis G, Lesca G, Rossi M, Edery P, Delahaye-Duriez A, De Pontual L, Tabet AC, Lebbar A, Suiro L, Ioos C, Natiq A, Chafai Elalaoui S, Missirian C, Receveur A, François-Fiquet C, Garnier P, Yardin C, Laroche C, Vago P, Sanlaville D, Dupont JM, Benzacken B, Pipiras E. Allach El Khattabi L, et al. Among authors: tabet ac. J Med Genet. 2020 May;57(5):301-307. doi: 10.1136/jmedgenet-2018-105389. Epub 2018 Oct 4. J Med Genet. 2020. PMID: 30287593
2p25.3 microduplications involving MYT1L: further phenotypic characterization through an assessment of 16 new cases and a literature review.
Bouassida M, Egloff M, Levy J, Chatron N, Bernardini L, Le Guyader G, Tabet AC, Schluth-Bolard C, Brancati F, Giuffrida MG, Dard R, Clorennec J, Coursimault J, Vialard F, Hervé B. Bouassida M, et al. Among authors: tabet ac. Eur J Hum Genet. 2023 Aug;31(8):895-904. doi: 10.1038/s41431-023-01379-9. Epub 2023 May 15. Eur J Hum Genet. 2023. PMID: 37188826 Free PMC article. Review.
AUTS2-related syndrome: Insights from a large European cohort.
Loberti L, Adamo L, Antolini E, Casamassima G, Destrèe A, Brunetti-Pierri N, Genevieve D, Christophe P, Coubes C, Van Esch H, Herget T, Kortüm F, Lisfeld J, Möllring AC, Zenker M, Levy J, Perrin L, Tabet AC, Maruani A, Sorlin A, Stieber D, Herissant L, Dahan K, Sinibaldi L, Capolino R, Dentici ML, Dallapiccola B, Novelli A, Garavelli L, Caraffi SG, Piatelli G, Valenzuela I, Digilio MC, Caumes R, Knopp C, Chwiałkowska K, Jezela-Stanek A, Kwasniewski M, Korotko U, Gorzałczyńska E, Canitano R, Grosso S, Rahikkala E, Mattern L, Elbracht M, Zuffardi O, Caputo V, Toschi B, Beunders G, Leeuwen L, Elting MW, van der Laan L, Broekema MF, Groffen AJ, van de Kamp JM, van Haelst MM, Alders M, Mauro SP, De Razza F, Varvara D, Kick J, Gaspar H, Braun D, Lausberg E, Maier A, Ruault V, Genesio R, Tartaglia M, Tita R, Bruttini M, Longo I, Baldassarri M, Mencarelli MA, Renieri A, Pinto AM. Loberti L, et al. Among authors: tabet ac. Genet Med. 2025 Jun;27(6):101375. doi: 10.1016/j.gim.2025.101375. Epub 2025 Feb 12. Genet Med. 2025. PMID: 39953909 Free article.
Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol).
Fiot E, Alauze B, Donadille B, Samara-Boustani D, Houang M, De Filippo G, Bachelot A, Delcour C, Beyler C, Bois E, Bourrat E, Bui Quoc E, Bourcigaux N, Chaussain C, Cohen A, Cohen-Solal M, Da Costa S, Dossier C, Ederhy S, Elmaleh M, Iserin L, Lengliné H, Poujol-Robert A, Roulot D, Viala J, Albarel F, Bismuth E, Bernard V, Bouvattier C, Brac A, Bretones P, Chabbert-Buffet N, Chanson P, Coutant R, de Warren M, Demaret B, Duranteau L, Eustache F, Gautheret L, Gelwane G, Gourbesville C, Grynberg M, Gueniche K, Jorgensen C, Kerlan V, Lebrun C, Lefevre C, Lorenzini F, Manouvrier S, Pienkowski C, Reynaud R, Reznik Y, Siffroi JP, Tabet AC, Tauber M, Vautier V, Tauveron I, Wambre S, Zenaty D, Netchine I, Polak M, Touraine P, Carel JC, Christin-Maitre S, Léger J. Fiot E, et al. Among authors: tabet ac. Orphanet J Rare Dis. 2022 Jul 12;17(Suppl 1):261. doi: 10.1186/s13023-022-02423-5. Orphanet J Rare Dis. 2022. PMID: 35821070 Free PMC article.
Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors.
Willim J, Woike D, Greene D, Das S, Pfeifer K, Yuan W, Lindsey A, Itani O, Böhme AL, Tibbe D, Hönck HH, Hassani Nia F; Undiagnosed Diseases Network; Zech M, Brunet T, Faivre L, Sorlin A, Vitobello A, Smol T, Colson C, Baranano K, Schatz K, Bayat A, Schoch K, Spillmann R, Davis EE, Conboy E, Vetrini F, Platzer K, Neuser S, Gburek-Augustat J, Grace AN, Mitchell B, Stegmann A, Sinnema M, Meeks N, Saunders C, Cadieux-Dion M, Hoyer J, Van-Gils J, de Sainte-Agathe JM, Thompson ML, Bebin EM, Weisz-Hubshman M, Tabet AC, Verloes A, Levy J, Latypova X, Harder S, Silverman GA, Pak SC, Schedl T, Freson K, Mumford A, Turro E, Schlein C, Shashi V, Kreienkamp HJ. Willim J, et al. Among authors: tabet ac. Nat Commun. 2024 Sep 10;15(1):7909. doi: 10.1038/s41467-024-52095-x. Nat Commun. 2024. PMID: 39256359 Free PMC article.
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.
Zawerton A, Mignot C, Sigafoos A, Blackburn PR, Haseeb A, McWalter K, Ichikawa S, Nava C, Keren B, Charles P, Marey I, Tabet AC, Levy J, Perrin L, Hartmann A, Lesca G, Schluth-Bolard C, Monin P, Dupuis-Girod S, Guillen Sacoto MJ, Schnur RE, Zhu Z, Poisson A, El Chehadeh S, Alembik Y, Bruel AL, Lehalle D, Nambot S, Moutton S, Odent S, Jaillard S, Dubourg C, Hilhorst-Hofstee Y, Barbaro-Dieber T, Ortega L, Bhoj EJ, Masser-Frye D, Bird LM, Lindstrom K, Ramsey KM, Narayanan V, Fassi E, Willing M, Cole T, Salter CG, Akilapa R, Vandersteen A, Canham N, Rump P, Gerkes EH, Klein Wassink-Ruiter JS, Bijlsma E, Hoffer MJV, Vargas M, Wojcik A, Cherik F, Francannet C, Rosenfeld JA, Machol K, Scott DA, Bacino CA, Wang X, Clark GD, Bertoli M, Zwolinski S, Thomas RH, Akay E, Chang RC, Bressi R, Sanchez Russo R, Srour M, Russell L, Goyette AE, Dupuis L, Mendoza-Londono R, Karimov C, Joseph M, Nizon M, Cogné B, Kuechler A, Piton A; Deciphering Developmental Disorder Study; Klee EW, Lefebvre V, Clark KJ, Depienne C. Zawerton A, et al. Among authors: tabet ac. Genet Med. 2020 Mar;22(3):524-537. doi: 10.1038/s41436-019-0657-0. Epub 2019 Oct 3. Genet Med. 2020. PMID: 31578471 Free PMC article.
A Genetic Bridge Between Medicine and Neurodiversity for Autism.
Leblond CS, Rolland T, Barthome E, Mougin Z, Fleury M, Ecker C, Bonnot-Briey S, Cliquet F, Tabet AC, Maruani A, Chaumette B, Green J, Delorme R, Bourgeron T. Leblond CS, et al. Among authors: tabet ac. Annu Rev Genet. 2024 Nov;58(1):487-512. doi: 10.1146/annurev-genet-111523-102614. Annu Rev Genet. 2024. PMID: 39585908 Free article. Review.
Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.
Jouret G, Egloff M, Landais E, Tassy O, Giuliano F, Karmous-Benailly H, Coutton C, Satre V, Devillard F, Dieterich K, Vieville G, Kuentz P, le Caignec C, Beneteau C, Isidor B, Nizon M, Callier P, Marquet V, Bieth E, Lévy J, Tabet AC, Lyonnet S, Baujat G, Rio M, Cartault F, Scheidecker S, Gouronc A, Schalk A, Jacquin C, Spodenkiewicz M, Angélini C, Pennamen P, Rooryck C, Doco-Fenzy M, Poirsier C. Jouret G, et al. Among authors: tabet ac. Am J Med Genet A. 2023 Jan;191(1):52-63. doi: 10.1002/ajmg.a.62983. Epub 2022 Oct 5. Am J Med Genet A. 2023. PMID: 36196855
1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.
Jacquin C, Landais E, Poirsier C, Afenjar A, Akhavi A, Bednarek N, Bénech C, Bonnard A, Bosquet D, Burglen L, Callier P, Chantot-Bastaraud S, Coubes C, Coutton C, Delobel B, Descharmes M, Dupont JM, Gatinois V, Gruchy N, Guterman S, Heddar A, Herissant L, Heron D, Isidor B, Jaeger P, Jouret G, Keren B, Kuentz P, Le Caignec C, Levy J, Lopez N, Manssens Z, Martin-Coignard D, Marey I, Mignot C, Missirian C, Pebrel-Richard C, Pinson L, Puechberty J, Redon S, Sanlaville D, Spodenkiewicz M, Tabet AC, Verloes A, Vieville G, Yardin C, Vialard F, Doco-Fenzy M. Jacquin C, et al. Among authors: tabet ac. Am J Med Genet A. 2023 Feb;191(2):445-458. doi: 10.1002/ajmg.a.63041. Epub 2022 Nov 11. Am J Med Genet A. 2023. PMID: 36369750 Free PMC article.
82 results