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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1985 1
1986 1
1987 1
1989 3
1990 1
1991 1
1993 1
1994 3
1997 3
1998 4
1999 3
2000 6
2001 6
2002 7
2003 13
2004 11
2005 7
2006 6
2007 10
2008 9
2009 14
2010 8
2011 16
2012 15
2013 21
2014 25
2015 20
2016 27
2017 17
2018 35
2019 37
2020 31
2021 6
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313 results
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Page 1
Classification criteria for autoinflammatory recurrent fevers.
Gattorno M, Hofer M, Federici S, Vanoni F, Bovis F, Aksentijevich I, Anton J, Arostegui JI, Barron K, Ben-Cherit E, Brogan PA, Cantarini L, Ceccherini I, De Benedetti F, Dedeoglu F, Demirkaya E, Frenkel J, Goldbach-Mansky R, Gul A, Hentgen V, Hoffman H, Kallinich T, Kone-Paut I, Kuemmerle-Deschner J, Lachmann HJ, Laxer RM, Livneh A, Obici L, Ozen S, Rowczenio D, Russo R, Shinar Y, Simon A, Toplak N, Touitou I, Uziel Y, van Gijn M, Foell D, Garassino C, Kastner D, Martini A, Sormani MP, Ruperto N; Eurofever Registry and the Paediatric Rheumatology International Trials Organisation (PRINTO). Gattorno M, et al. Among authors: touitou i. Ann Rheum Dis. 2019 Aug;78(8):1025-1032. doi: 10.1136/annrheumdis-2019-215048. Epub 2019 Apr 24. Ann Rheum Dis. 2019. PMID: 31018962 Review.
[Kabuki syndrome: Update and review].
Arnaud M, Barat-Houari M, Gatinois V, Sanchez E, Lyonnet S, Touitou I, Geneviève D. Arnaud M, et al. Among authors: touitou i, genevieve d. Arch Pediatr. 2015 Jun;22(6):653-60. doi: 10.1016/j.arcped.2015.03.020. Epub 2015 Apr 28. Arch Pediatr. 2015. PMID: 25934606 Review. French.
Growth charts in Kabuki syndrome 1.
Ruault V, Corsini C, Duflos C, Akouete S, Georgescu V, Abaji M, Alembick Y, Alix E, Amiel J, Amouroux C, Barat-Houari M, Baumann C, Bonnard A, Boursier G, Boute O, Burglen L, Busa T, Cordier MP, Cormier-Daire V, Delrue MA, Doray B, Faivre L, Fradin M, Gilbert-Dussardier B, Giuliano F, Goldenberg A, Gorokhova S, Héron D, Isidor B, Jacquemont ML, Jacquette A, Jeandel C, Lacombe D, Le Merrer M, Sang KHLQ, Lyonnet S, Manouvrier S, Michot C, Moncla A, Moutton S, Odent S, Pelet A, Philip N, Pinson L, Reversat J, Roume J, Sanchez E, Sanlaville D, Sarda P, Schaefer E, Till M, Touitou I, Toutain A, Willems M, Gatinois V, Geneviève D. Ruault V, et al. Among authors: touitou i, genevieve d. Am J Med Genet A. 2020 Mar;182(3):446-453. doi: 10.1002/ajmg.a.61462. Epub 2019 Dec 26. Am J Med Genet A. 2020. PMID: 31876365
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.
Mirzaa GM, Chong JX, Piton A, Popp B, Foss K, Guo H, Harripaul R, Xia K, Scheck J, Aldinger KA, Sajan SA, Tang S, Bonneau D, Beck A, White J, Mahida S, Harris J, Smith-Hicks C, Hoyer J, Zweier C, Reis A, Thiel CT, Jamra RA, Zeid N, Yang A, Farach LS, Walsh L, Payne K, Rohena L, Velinov M, Ziegler A, Schaefer E, Gatinois V, Geneviève D, Simon MEH, Kohler J, Rotenberg J, Wheeler P, Larson A, Ernst ME, Akman CI, Westman R, Blanchet P, Schillaci LA, Vincent-Delorme C, Gripp KW, Mattioli F, Guyader GL, Gerard B, Mathieu-Dramard M, Morin G, Sasanfar R, Ayub M, Vasli N, Yang S, Person R, Monaghan KG, Nickerson DA, van Binsbergen E, Enns GM, Dries AM, Rowe LJ, Tsai ACH, Svihovec S, Friedman J, Agha Z, Qamar R, Rodan LH, Martinez-Agosto J, Ockeloen CW, Vincent M, Sunderland WJ, Bernstein JA; Undiagnosed Diseases Network,, Eichler EE, Vincent JB; University of Washington Center for Mendelian Genomics (UW-CMG),, Bamshad MJ. Mirzaa GM, et al. Among authors: genevieve d. Genet Med. 2020 Mar;22(3):538-546. doi: 10.1038/s41436-019-0693-9. Epub 2019 Nov 14. Genet Med. 2020. PMID: 31723249 Free PMC article.
Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases.
Baer S, Afenjar A, Smol T, Piton A, Gérard B, Alembik Y, Bienvenu T, Boursier G, Boute O, Colson C, Cordier MP, Cormier-Daire V, Delobel B, Doco-Fenzy M, Duban-Bedu B, Fradin M, Geneviève D, Goldenberg A, Grelet M, Haye D, Heron D, Isidor B, Keren B, Lacombe D, Lèbre AS, Lesca G, Masurel A, Mathieu-Dramard M, Nava C, Pasquier L, Petit A, Philip N, Piard J, Rondeau S, Saugier-Veber P, Sukno S, Thevenon J, Van-Gils J, Vincent-Delorme C, Willems M, Schaefer E, Morin G. Baer S, et al. Among authors: genevieve d. Clin Genet. 2018 Jul;94(1):141-152. doi: 10.1111/cge.13254. Epub 2018 May 17. Clin Genet. 2018. PMID: 29574747 Review.
Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.
Vabres P, Sorlin A, Kholmanskikh SS, Demeer B, St-Onge J, Duffourd Y, Kuentz P, Courcet JB, Carmignac V, Garret P, Bessis D, Boute O, Bron A, Captier G, Carmi E, Devauchelle B, Geneviève D, Gondry-Jouet C, Guibaud L, Lafon A, Mathieu-Dramard M, Thevenon J, Dobyns WB, Bernard G, Polubothu S, Faravelli F, Kinsler VA, Thauvin C, Faivre L, Ross ME, Rivière JB. Vabres P, et al. Among authors: genevieve d. Nat Genet. 2019 Oct;51(10):1438-1441. doi: 10.1038/s41588-019-0498-4. Epub 2019 Sep 30. Nat Genet. 2019. PMID: 31570889 Free PMC article.
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Aref-Eshghi E, Kerkhof J, Pedro VP; Groupe DI France, Barat-Houari M, Ruiz-Pallares N, Andrau JC, Lacombe D, Van-Gils J, Fergelot P, Dubourg C, Cormier-Daire V, Rondeau S, Lecoquierre F, Saugier-Veber P, Nicolas G, Lesca G, Chatron N, Sanlaville D, Vitobello A, Faivre L, Thauvin-Robinet C, Laumonnier F, Raynaud M, Alders M, Mannens M, Henneman P, Hennekam RC, Velasco G, Francastel C, Ulveling D, Ciolfi A, Pizzi S, Tartaglia M, Heide S, Héron D, Mignot C, Keren B, Whalen S, Afenjar A, Bienvenu T, Campeau PM, Rousseau J, Levy MA, Brick L, Kozenko M, Balci TB, Siu VM, Stuart A, Kadour M, Masters J, Takano K, Kleefstra T, de Leeuw N, Field M, Shaw M, Gecz J, Ainsworth PJ, Lin H, Rodenhiser DI, Friez MJ, Tedder M, Lee JA, DuPont BR, Stevenson RE, Skinner SA, Schwartz CE, Genevieve D, Sadikovic B. Aref-Eshghi E, et al. Among authors: genevieve d. Am J Hum Genet. 2020 Mar 5;106(3):356-370. doi: 10.1016/j.ajhg.2020.01.019. Epub 2020 Feb 27. Am J Hum Genet. 2020. PMID: 32109418 Free PMC article.
Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review.
Ter Haar N, Lachmann H, Özen S, Woo P, Uziel Y, Modesto C, Koné-Paut I, Cantarini L, Insalaco A, Neven B, Hofer M, Rigante D, Al-Mayouf S, Touitou I, Gallizzi R, Papadopoulou-Alataki E, Martino S, Kuemmerle-Deschner J, Obici L, Iagaru N, Simon A, Nielsen S, Martini A, Ruperto N, Gattorno M, Frenkel J; Paediatric Rheumatology International Trials Organisation (PRINTO) and the Eurofever/Eurotraps Projects. Ter Haar N, et al. Among authors: touitou i. Ann Rheum Dis. 2013 May;72(5):678-85. doi: 10.1136/annrheumdis-2011-201268. Epub 2012 Jun 29. Ann Rheum Dis. 2013. PMID: 22753383 Free article. Review.
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