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Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy.
Am J Hum Genet. 2020 Jun 4;106(6):893-904. doi: 10.1016/j.ajhg.2020.04.005. Epub 2020 May 7.
Am J Hum Genet. 2020.
PMID: 32386558
Free PMC article.
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome.
Delvallée C, Nicaise S, Antin M, Leuvrey AS, Nourisson E, Leitch CC, Kellaris G, Stoetzel C, Geoffroy V, Scheidecker S, Keren B, Depienne C, Klar J, Dahl N, Deleuze JF, Génin E, Redon R, Demurger F, Devriendt K, Mathieu-Dramard M, Poitou-Bernert C, Odent S, Katsanis N, Mandel JL, Davis EE, Dollfus H, Muller J.
Delvallée C, et al. Among authors: kellaris g.
Clin Genet. 2021 Feb;99(2):318-324. doi: 10.1111/cge.13878. Epub 2020 Nov 14.
Clin Genet. 2021.
PMID: 33169370
Free PMC article.
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Dissecting the complexity of CNV pathogenicity: insights from Drosophila and zebrafish models.
Yusuff T, Kellaris G, Girirajan S, Katsanis N.
Yusuff T, et al. Among authors: kellaris g.
Curr Opin Genet Dev. 2021 Jun;68:79-87. doi: 10.1016/j.gde.2021.02.013. Epub 2021 Mar 31.
Curr Opin Genet Dev. 2021.
PMID: 33812298
Free PMC article.
Review.
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A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features.
Kellaris G, Khan K, Baig SM, Tsai IC, Zamora FM, Ruggieri P, Natowicz MR, Katsanis N.
Kellaris G, et al.
Hum Genomics. 2018 Mar 1;12(1):11. doi: 10.1186/s40246-018-0141-y.
Hum Genomics. 2018.
PMID: 29490693
Free PMC article.
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A cross-disorder dosage sensitivity map of the human genome.
Collins RL, Glessner JT, Porcu E, Lepamets M, Brandon R, Lauricella C, Han L, Morley T, Niestroj LM, Ulirsch J, Everett S, Howrigan DP, Boone PM, Fu J, Karczewski KJ, Kellaris G, Lowther C, Lucente D, Mohajeri K, Nõukas M, Nuttle X, Samocha KE, Trinh M, Ullah F, Võsa U; Epi25 Consortium; Estonian Biobank Research Team; Hurles ME, Aradhya S, Davis EE, Finucane H, Gusella JF, Janze A, Katsanis N, Matyakhina L, Neale BM, Sanders D, Warren S, Hodge JC, Lal D, Ruderfer DM, Meck J, Mägi R, Esko T, Reymond A, Kutalik Z, Hakonarson H, Sunyaev S, Brand H, Talkowski ME.
Collins RL, et al. Among authors: kellaris g.
Cell. 2022 Aug 4;185(16):3041-3055.e25. doi: 10.1016/j.cell.2022.06.036. Epub 2022 Aug 1.
Cell. 2022.
PMID: 35917817
Free PMC article.
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Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.
Bonora E, Chakrabarty S, Kellaris G, Tsutsumi M, Bianco F, Bergamini C, Ullah F, Isidori F, Liparulo I, Diquigiovanni C, Masin L, Rizzardi N, Cratere MG, Boschetti E, Papa V, Maresca A, Cenacchi G, Casadio R, Martelli P, Matera I, Ceccherini I, Fato R, Raiola G, Arrigo S, Signa S, Sementa AR, Severino M, Striano P, Fiorillo C, Goto T, Uchino S, Oyazato Y, Nakamura H, Mishra SK, Yeh YS, Kato T, Nozu K, Tanboon J, Morioka I, Nishino I, Toda T, Goto YI, Ohtake A, Kosaki K, Yamaguchi Y, Nonaka I, Iijima K, Mimaki M, Kurahashi H, Raams A, MacInnes A, Alders M, Engelen M, Linthorst G, de Koning T, den Dunnen W, Dijkstra G, van Spaendonck K, van Gent DC, Aronica EM, Picco P, Carelli V, Seri M, Katsanis N, Duijkers FAM, Taniguchi-Ikeda M, De Giorgio R.
Bonora E, et al. Among authors: kellaris g.
Brain. 2021 Jun 22;144(5):1451-1466. doi: 10.1093/brain/awab056.
Brain. 2021.
PMID: 33855352
Free article.
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