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

Year Number of Results
1950 1
1955 1
1971 1
1979 3
1981 1
1986 1
1987 1
1990 5
1991 3
1992 5
1993 4
1994 3
1995 5
1996 3
1997 6
1998 12
1999 8
2000 5
2001 6
2002 10
2003 8
2004 2
2005 7
2006 7
2007 10
2008 11
2009 16
2010 13
2011 11
2012 17
2013 17
2014 25
2015 17
2016 20
2017 15
2018 26
2019 22
2020 24
2021 38
2022 27
2023 32
2024 26
2025 12

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433 results

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Page 1
miR-181a/b downregulation: a mutation-independent therapeutic approach for inherited retinal diseases.
Carrella S, Di Guida M, Brillante S, Piccolo D, Ciampi L, Guadagnino I, Garcia Piqueras J, Pizzo M, Marrocco E, Molinari M, Petrogiannakis G, Barbato S, Ezhova Y, Auricchio A, Franco B, De Leonibus E, Surace EM, Indrieri A, Banfi S. Carrella S, et al. Among authors: franco b. EMBO Mol Med. 2022 Nov 8;14(11):e15941. doi: 10.15252/emmm.202215941. Epub 2022 Oct 4. EMBO Mol Med. 2022. PMID: 36194668 Free PMC article.
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
Grozeva D, Carss K, Spasic-Boskovic O, Tejada MI, Gecz J, Shaw M, Corbett M, Haan E, Thompson E, Friend K, Hussain Z, Hackett A, Field M, Renieri A, Stevenson R, Schwartz C, Floyd JA, Bentham J, Cosgrove C, Keavney B, Bhattacharya S; Italian X-linked Mental Retardation Project; UK10K Consortium; GOLD Consortium; Hurles M, Raymond FL. Grozeva D, et al. Hum Mutat. 2015 Dec;36(12):1197-204. doi: 10.1002/humu.22901. Epub 2015 Sep 30. Hum Mutat. 2015. PMID: 26350204 Free PMC article.
OFD1: One gene, several disorders.
Pezzella N, Bove G, Tammaro R, Franco B. Pezzella N, et al. Among authors: franco b. Am J Med Genet C Semin Med Genet. 2022 Mar;190(1):57-71. doi: 10.1002/ajmg.c.31962. Epub 2022 Feb 2. Am J Med Genet C Semin Med Genet. 2022. PMID: 35112477 Free PMC article. Review.
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.
Morleo M, Venditti R, Theodorou E, Briere LC, Rosello M, Tirozzi A, Tammaro R, Al-Badri N, High FA, Shi J; Undiagnosed Diseases Network; Telethon Undiagnosed Diseases Program; Putti E, Ferrante L, Cetrangolo V, Torella A, Walker MA, Tenconi R, Iascone M, Mei D, Guerrini R, van der Smagt J, Kroes HY, van Gassen KLI, Bilal M, Umair M, Pingault V, Attie-Bitach T, Amiel J, Ejaz R, Rodan L, Zollino M, Agrawal PB, Del Bene F, Nigro V, Sweetser DA, Franco B. Morleo M, et al. Among authors: franco b. Am J Hum Genet. 2023 Aug 3;110(8):1377-1393. doi: 10.1016/j.ajhg.2023.06.012. Epub 2023 Jul 13. Am J Hum Genet. 2023. PMID: 37451268 Free PMC article.
Oral-Facial-Digital Syndrome Type I.
Franco B, Bruel AL, Thauvin-Robinet C. Franco B, et al. 2002 Jul 24 [updated 2023 May 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2002 Jul 24 [updated 2023 May 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301367 Free Books & Documents. Review.
The TBC1D31/praja2 complex controls primary ciliogenesis through PKA-directed OFD1 ubiquitylation.
Senatore E, Chiuso F, Rinaldi L, Intartaglia D, Delle Donne R, Pedone E, Catalanotti B, Pirone L, Fiorillo B, Moraca F, Giamundo G, Scala G, Raffeiner A, Torres-Quesada O, Stefan E, Kwiatkowski M, van Pijkeren A, Morleo M, Franco B, Garbi C, Conte I, Feliciello A. Senatore E, et al. Among authors: franco b. EMBO J. 2021 May 17;40(10):e106503. doi: 10.15252/embj.2020106503. Epub 2021 May 2. EMBO J. 2021. PMID: 33934390 Free PMC article.
Overcoming Immune Deficiency with Allogrooming.
Bulmer MS, Franco BA, Biswas A, Greenbaum SF. Bulmer MS, et al. Among authors: franco ba. Insects. 2023 Jan 26;14(2):128. doi: 10.3390/insects14020128. Insects. 2023. PMID: 36835697 Free PMC article.
Update on oral-facial-digital syndromes (OFDS).
Franco B, Thauvin-Robinet C. Franco B, et al. Cilia. 2016 May 2;5:12. doi: 10.1186/s13630-016-0034-4. eCollection 2016. Cilia. 2016. PMID: 27141300 Free PMC article. Review.
433 results