Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Rueben G. Das"'
Autor:
Rueben G DAS, Eirene Choi, Paraskevi Sgourdou, Tia Bernard, Beth A. Dombroski, Gerard D. Schellenberg
Publikováno v:
Alzheimer's & Dementia. 18
Autor:
John S. Malamon, John J. Farrell, Li Charlie Xia, Beth A. Dombroski, Wan-Ping Lee, Rueben G. Das, Badri N. Vardarajan, Jessica Way, Amanda B. Kuzma, Otto Valladares, Yuk Yee Leung, Allison J. Scanlon, Irving Antonio Barrera Lopez, Jack Brehony, Kim C. Worley, Nancy R. Zhang, Li-San Wang, Lindsay A. Farrer, Gerard D. Schellenberg
BackgroundReliable detection and accurate genotyping of structural variants (SVs) and insertion/deletions (indels) from whole-genome sequence (WGS) data is a significant challenge. We present a protocol for variant calling, quality control, call merg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f6ec9c3b75cfd396c1ead8ffffc8b43c
https://doi.org/10.1101/2022.05.19.492472
https://doi.org/10.1101/2022.05.19.492472
Autor:
Kendall Carlin, Keiko Miyadera, Gustavo D. Aguirre, Raghavi Sudharsan, Tosso Leeb, Yuji Nishizawa, Orly Goldstein, Vidhya Jagannathan, Evelyn Santana, Rueben G. Das, Doreen Becker, Mineo Kondo
Publikováno v:
Das, Rueben G; Becker, Doreen; Jagannathan, Vidya; Goldstein, Orly; Santana, Evelyn; Carlin, Kendall; Sudharsan, Raghavi; Leeb, Tosso; Nishizawa, Yuji; Kondo, Mineo; Aguirre, Gustavo D; Miyadera, Keiko (2019). Genome-wide association study and whole-genome sequencing identify a deletion in LRIT3 associated with canine congenital stationary night blindness. Scientific reports, 9(1), p. 14166. Springer Nature 10.1038/s41598-019-50573-7
Scientific Reports
Scientific Reports, Vol 9, Iss 1, Pp 1-12 (2019)
Scientific Reports
Scientific Reports, Vol 9, Iss 1, Pp 1-12 (2019)
Congenital stationary night blindness (CSNB), in the complete form, is caused by dysfunctions in ON-bipolar cells (ON-BCs) which are secondary neurons of the retina. We describe the first disease causative variant associated with CSNB in the dog. A g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8264a6ebbbbf8036f0ed044db548a404
https://boris.unibe.ch/133747/1/Das_2019_Sci_Rep_9_14166.pdf
https://boris.unibe.ch/133747/1/Das_2019_Sci_Rep_9_14166.pdf
Autor:
Rueben G. Das, Felipe Pompeo Marinho, Evelyn Santana, Gustavo D. Aguirre, Kendra McDaid, Simone Iwabe, Keiko Miyadera
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-15 (2017)
Scientific Reports
Scientific Reports
Defects in the cilia gene RPGRIP1 cause Leber congenital amaurosis and cone-rod dystrophy in humans. A form of canine cone-rod dystrophy (cord1) was originally associated with a homozygous insertion in RPGRIP1 (RPGRIP1ins/ins) as the primary disease
P2-132: EXPRESSION STUDY ON THE EFFECT OF DELETING A MAPT ENHANCER CONTAINING RS242557 IN MICE BRAIN
Publikováno v:
Alzheimer's & Dementia. 15:P623-P623
Autor:
Simone Iwabe, Gustavo D. Aguirre, Rueben G. Das, Keiko Miyadera, Felipe Pompeo Marinho, Evelyn Santana, Kendra McDaid
Publikováno v:
Scientific Reports, Vol 8, Iss 1, Pp 1-1 (2018)
Scientific Reports
Scientific Reports
Defects in the cilia gene RPGRIP1 cause Leber congenital amaurosis and cone-rod dystrophy in humans. A form of canine cone-rod dystrophy (cord1) was originally associated with a homozygous insertion in RPGRIP1 (RPGRIP1