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The landscape of tolerated genetic variation in humans and primates.
Gao H, Hamp T, Ede J, Schraiber JG, McRae J, Singer-Berk M, Yang Y, Dietrich ASD, Fiziev PP, Kuderna LFK, Sundaram L, Wu Y, Adhikari A, Field Y, Chen C, Batzoglou S, Aguet F, Lemire G, Reimers R, Balick D, Janiak MC, Kuhlwilm M, Orkin JD, Manu S, Valenzuela A, Bergman J, Rousselle M, Silva FE, Agueda L, Blanc J, Gut M, de Vries D, Goodhead I, Harris RA, Raveendran M, Jensen A, Chuma IS, Horvath JE, Hvilsom C, Juan D, Frandsen P, de Melo FR, Bertuol F, Byrne H, Sampaio I, Farias I, do Amaral JV, Messias M, da Silva MNF, Trivedi M, Rossi R, Hrbek T, Andriaholinirina N, Rabarivola CJ, Zaramody A, Jolly CJ, Phillips-Conroy J, Wilkerson G, Abee C, Simmons JH, Fernandez-Duque E, Kanthaswamy S, Shiferaw F, Wu D, Zhou L, Shao Y, Zhang G, Keyyu JD, Knauf S, Le MD, Lizano E, Merker S, Navarro A, Bataillon T, Nadler T, Khor CC, Lee J, Tan P, Lim WK, Kitchener AC, Zinner D, Gut I, Melin A, Guschanski K, Schierup MH, Beck RMD, Umapathy G, Roos C, Boubli JP, Lek M, Sunyaev S, O'Donnell-Luria A, Rehm HL, Xu J, Rogers J, Marques-Bonet T, Farh KK. Gao H, et al. Among authors: juan d. Science. 2023 Jun 2;380(6648):eabn8153. doi: 10.1126/science.abn8197. Epub 2023 Jun 2. Science. 2023. PMID: 37262156 Free PMC article.
Spatiotemporal transcriptomic divergence across human and macaque brain development.
Zhu Y, Sousa AMM, Gao T, Skarica M, Li M, Santpere G, Esteller-Cucala P, Juan D, Ferrández-Peral L, Gulden FO, Yang M, Miller DJ, Marques-Bonet T, Imamura Kawasawa Y, Zhao H, Sestan N. Zhu Y, et al. Among authors: juan d. Science. 2018 Dec 14;362(6420):eaat8077. doi: 10.1126/science.aat8077. Epub 2018 Dec 13. Science. 2018. PMID: 30545855 Free PMC article.
Selective single molecule sequencing and assembly of a human Y chromosome of African origin.
Kuderna LFK, Lizano E, Julià E, Gomez-Garrido J, Serres-Armero A, Kuhlwilm M, Alandes RA, Alvarez-Estape M, Juan D, Simon H, Alioto T, Gut M, Gut I, Schierup MH, Fornas O, Marques-Bonet T. Kuderna LFK, et al. Among authors: juan d. Nat Commun. 2019 Jan 2;10(1):4. doi: 10.1038/s41467-018-07885-5. Nat Commun. 2019. PMID: 30602775 Free PMC article.
Copy number variants and fixed duplications among 198 rhesus macaques (Macaca mulatta).
Brasó-Vives M, Povolotskaya IS, Hartasánchez DA, Farré X, Fernandez-Callejo M, Raveendran M, Harris RA, Rosene DL, Lorente-Galdos B, Navarro A, Marques-Bonet T, Rogers J, Juan D. Brasó-Vives M, et al. Among authors: juan d. PLoS Genet. 2020 May 11;16(5):e1008742. doi: 10.1371/journal.pgen.1008742. eCollection 2020 May. PLoS Genet. 2020. PMID: 32392208 Free PMC article.
The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing.
Rodin RE, Dou Y, Kwon M, Sherman MA, D'Gama AM, Doan RN, Rento LM, Girskis KM, Bohrson CL, Kim SN, Nadig A, Luquette LJ, Gulhan DC; Brain Somatic Mosaicism Network; Park PJ, Walsh CA. Rodin RE, et al. Nat Neurosci. 2021 Feb;24(2):176-185. doi: 10.1038/s41593-020-00765-6. Epub 2021 Jan 11. Nat Neurosci. 2021. PMID: 33432195 Free PMC article.
187 results