| A cross-disorder dosage sensitivity map of the human genome RL Collins, JT Glessner, E Porcu, M Lepamets, R Brandon, C Lauricella, ... Cell 185 (16), 3041-3055. e25, 2022 | 154 | 2022 |
| A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features G Kellaris, K Khan, SM Baig, IC Tsai, FM Zamora, P Ruggieri, ... Human Genomics 12, 1-9, 2018 | 61 | 2018 |
| Mutations in the kinesin-2 motor KIF3B cause an autosomal-dominant ciliopathy B Cogné, X Latypova, LDS Senaratne, L Martin, DC Koboldt, G Kellaris, ... The American Journal of Human Genetics 106 (6), 893-904, 2020 | 40 | 2020 |
| Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy E Bonora, S Chakrabarty, G Kellaris, M Tsutsumi, F Bianco, C Bergamini, ... Brain 144 (5), 1451-1466, 2021 | 36 | 2021 |
| A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet‐Biedl syndrome C Delvallée, S Nicaise, M Antin, AS Leuvrey, E Nourisson, CC Leitch, ... Clinical genetics 99 (2), 318-324, 2021 | 28 | 2021 |
| Consortium E RL Collins, JT Glessner, E Porcu, LM Niestroj, J Ulirsch, G Kellaris, ... Gusella JF, Finucane H, Matyakhina L, Aradhya S, Meck J, Lal D, Neale BM …, 2021 | 5 | 2021 |
| Dissecting the complexity of CNV pathogenicity: insights from Drosophila and zebrafish models T Yusuff, G Kellaris, S Girirajan, N Katsanis Current opinion in genetics & development 68, 79-87, 2021 | 3 | 2021 |
| Biallellic variants in SNAPIN are associated with a novel foetal neuroanatomical phenotype M de Koning, H Yousaf, K Gilmore, M Hoffer, G Kellaris, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 42-42, 2024 | | 2024 |
| Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy M Taniguchi-Ikeda, E Bonora, S Chakrabarty, G Kellaris, J Tanboon, ... NEUROMUSCULAR DISORDERS 31, 2021 | | 2021 |
| LIG3 mutations cause a new type of mitochondrial neurogastrointestinal encephaloneuromyopathy F Bianco, C Bergamini, V Carelli, G Kellaris, N Katsanis, M Seri, ... NEUROGASTROENTEROLOGY AND MOTILITY 32, 2020 | | 2020 |
| Mutations in LIG3 are a novel cause of mitochondrial neurogastrointestinal encephalomyopathy E Bonora, F Bianco, C Bergamini, G Kellaris, F Ullah, F Isidori, I Liparulo, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 1159-1160, 2019 | | 2019 |
| LBO. 01 Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy M Taniguchi-Ikeda, E Bonora, S Chakrabarty, G Kellaris, J Tanboon, ... | | |
I-Chun TsaiDuke UniversityVerified email at duke.edu
