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Page 1
A Genocentric Approach to Discovery of Mendelian Disorders.
Hansen AW, Murugan M, Li H, Khayat MM, Wang L, Rosenfeld J, Andrews BK, Jhangiani SN, Coban Akdemir ZH, Sedlazeck FJ, Ashley-Koch AE, Liu P, Muzny DM; Task Force for Neonatal Genomics; Davis EE, Katsanis N, Sabo A, Posey JE, Yang Y, Wangler MF, Eng CM, Sutton VR, Lupski JR, Boerwinkle E, Gibbs RA. Hansen AW, et al. Among authors: katsanis n. Am J Hum Genet. 2019 Nov 7;105(5):974-986. doi: 10.1016/j.ajhg.2019.09.027. Epub 2019 Oct 24. Am J Hum Genet. 2019. PMID: 31668702 Free PMC article.
Polygenic risk score portability for common diseases across genetically diverse populations.
Moreno-Grau S, Vernekar M, Lopez-Pineda A, Mas-Montserrat D, Barrabés M, Quinto-Cortés CD, Moatamed B, Lee MTM, Yu Z, Numakura K, Matsuda Y, Wall JD, Ioannidis AG, Katsanis N, Takano T, Bustamante CD. Moreno-Grau S, et al. Among authors: katsanis n. Hum Genomics. 2024 Sep 2;18(1):93. doi: 10.1186/s40246-024-00664-y. Hum Genomics. 2024. PMID: 39218908 Free PMC article.
An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variants.
Fellmann F, Saunders C, O'Donohue MF, Reid DW, McFadden KA, Montel-Lehry N, Yu C, Fang M, Zhang J, Royer-Bertrand B, Farinelli P, Karboul N, Willer JR, Fievet L, Bhuiyan ZA, Kleinhenz AL, Jadeau J, Fulbright J, Rivolta C, Renella R, Katsanis N, Beckmann JS, Nicchitta CV, Da Costa L, Davis EE, Gleizes PE. Fellmann F, et al. Among authors: katsanis n. JCI Insight. 2024 Aug 1;9(17):e172475. doi: 10.1172/jci.insight.172475. JCI Insight. 2024. PMID: 39088281 Free PMC article.
Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease.
Zhou W, Kanai M, Wu KH, Rasheed H, Tsuo K, Hirbo JB, Wang Y, Bhattacharya A, Zhao H, Namba S, Surakka I, Wolford BN, Lo Faro V, Lopera-Maya EA, Läll K, Favé MJ, Partanen JJ, Chapman SB, Karjalainen J, Kurki M, Maasha M, Brumpton BM, Chavan S, Chen TT, Daya M, Ding Y, Feng YA, Guare LA, Gignoux CR, Graham SE, Hornsby WE, Ingold N, Ismail SI, Johnson R, Laisk T, Lin K, Lv J, Millwood IY, Moreno-Grau S, Nam K, Palta P, Pandit A, Preuss MH, Saad C, Setia-Verma S, Thorsteinsdottir U, Uzunovic J, Verma A, Zawistowski M, Zhong X, Afifi N, Al-Dabhani KM, Al Thani A, Bradford Y, Campbell A, Crooks K, de Bock GH, Damrauer SM, Douville NJ, Finer S, Fritsche LG, Fthenou E, Gonzalez-Arroyo G, Griffiths CJ, Guo Y, Hunt KA, Ioannidis A, Jansonius NM, Konuma T, Lee MTM, Lopez-Pineda A, Matsuda Y, Marioni RE, Moatamed B, Nava-Aguilar MA, Numakura K, Patil S, Rafaels N, Richmond A, Rojas-Muñoz A, Shortt JA, Straub P, Tao R, Vanderwerff B, Vernekar M, Veturi Y, Barnes KC, Boezen M, Chen Z, Chen CY, Cho J, Smith GD, Finucane HK, Franke L, Gamazon ER, Ganna A, Gaunt TR, Ge T, Huang H, Huffman J, Katsanis N, Koskela JT, Lajonchere C, Law MH, Li L, Lindgren CM, Loos RJF, MacGregor S, Matsuda K, O… See abstract for full author list ➔ Zhou W, et al. Among authors: katsanis n. Cell Genom. 2022 Oct 12;2(10):100192. doi: 10.1016/j.xgen.2022.100192. eCollection 2022 Oct 12. Cell Genom. 2022. PMID: 36777996 Free PMC article.
Validating and automating learning of cardiometabolic polygenic risk scores from direct-to-consumer genetic and phenotypic data: implications for scaling precision health research.
Lopez-Pineda A, Vernekar M, Moreno-Grau S, Rojas-Muñoz A, Moatamed B, Lee MTM, Nava-Aguilar MA, Gonzalez-Arroyo G, Numakura K, Matsuda Y, Ioannidis A, Katsanis N, Takano T, Bustamante CD. Lopez-Pineda A, et al. Among authors: katsanis n. Hum Genomics. 2022 Sep 8;16(1):37. doi: 10.1186/s40246-022-00406-y. Hum Genomics. 2022. PMID: 36076307 Free PMC article.
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: katsanis n. 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.
310 results