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

Year Number of Results
2011 3
2012 1
2013 6
2014 5
2015 2
2016 3
2017 4
2018 4
2019 3
2020 6
2021 4
2022 4
2023 5
2024 2

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44 results

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Page 1
Using multi-scale genomics to associate poorly annotated genes with rare diseases.
Canavati C, Sherill-Rofe D, Kamal L, Bloch I, Zahdeh F, Sharon E, Terespolsky B, Allan IA, Rabie G, Kawas M, Kassem H, Avraham KB, Renbaum P, Levy-Lahad E, Kanaan M, Tabach Y. Canavati C, et al. Genome Med. 2024 Jan 4;16(1):4. doi: 10.1186/s13073-023-01276-2. Genome Med. 2024. PMID: 38178268 Free PMC article.
SMARCA4 mutation causes human otosclerosis and a similar phenotype in mice.
Drabkin M, Jean MM, Noy Y, Halperin D, Yogev Y, Wormser O, Proskorovski-Ohayon R, Dolgin V, Levaot N, Brumfeld V, Ovadia S, Kishner M, Kazenell U, Avraham KB, Shelef I, Birk OS. Drabkin M, et al. J Med Genet. 2024 Jan 19;61(2):117-124. doi: 10.1136/jmg-2023-109264. J Med Genet. 2024. PMID: 37399313 Free PMC article.
The Genomics of Auditory Function and Disease.
Taiber S, Gwilliam K, Hertzano R, Avraham KB. Taiber S, et al. Annu Rev Genomics Hum Genet. 2022 Aug 31;23:275-299. doi: 10.1146/annurev-genom-121321-094136. Epub 2022 Jun 6. Annu Rev Genomics Hum Genet. 2022. PMID: 35667089 Free PMC article. Review.
Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene.
Pater JA, Penney C, O'Rielly DD, Griffin A, Kamal L, Brownstein Z, Vona B, Vinkler C, Shohat M, Barel O, French CR, Singh S, Werdyani S, Burt T, Abdelfatah N, Houston J, Doucette LP, Squires J, Glaser F, Roslin NM, Vincent D, Marquis P, Woodland G, Benoukraf T, Hawkey-Noble A, Avraham KB, Stanton SG, Young TL. Pater JA, et al. Hum Genet. 2022 Apr;141(3-4):431-444. doi: 10.1007/s00439-022-02444-x. Epub 2022 Mar 12. Hum Genet. 2022. PMID: 35278131 Free PMC article.
44 results