Zobrazeno 1 - 10
of 269
pro vyhledávání: '"Eric Vilain"'
Autor:
Matthew S. Bramble, Victor Fourcassié, Neerja Vashist, Florence Roux-Dalvai, Yun Zhou, Guy Bumoko, Michel Lupamba Kasendue, D’Andre Spencer, Hilaire Musasa Hanshi-Hatuhu, Vincent Kambale-Mastaki, Rafael Vincent M. Manalo, Aliyah Mohammed, David R. McIlwain, Gary Cunningham, Marshall Summar, Michael J. Boivin, Ljubica Caldovic, Eric Vilain, Dieudonne Mumba-Ngoyi, Desire Tshala-Katumbay, Arnaud Droit
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-14 (2024)
Abstract Konzo is a neglected paralytic neurological disease associated with food (cassava) poisoning that affects the world’s poorest children and women of childbearing ages across regions of sub-Saharan Africa. Despite understanding the dietary f
Externí odkaz:
https://doaj.org/article/4668fa1a6b5f4299a659ef2961f0a97d
Autor:
Abhinav Parivesh, Emmanuèle Délot, Alejandra Reyes, Janelle Ryan, Surajit Bhattacharya, Vincent Harley, Eric Vilain
Publikováno v:
Biology of Sex Differences, Vol 15, Iss 1, Pp 1-17 (2024)
Abstract Background Disorders/differences of sex development (DSD) are congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is atypical. With overlapping phenotypes and multiple genes involved, poor diagnostic yie
Externí odkaz:
https://doaj.org/article/5429ee580eca4031930a0f79947da045
Autor:
Kristen Kocher, Surajit Bhattacharya, Nickie Niforatos-Andescavage, Miguel Almalvez, Diedtra Henderson, Eric Vilain, Catherine Limperopoulos, Emmanuèle C. Délot
Publikováno v:
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-12 (2023)
Abstract Background During gestation, stressors to the fetus, including viral exposure or maternal psychological distress, can fundamentally alter the neonatal epigenome, and may be associated with long-term impaired developmental outcomes. The impac
Externí odkaz:
https://doaj.org/article/168e1f8a9ef94167ba2287c59492cbb4
Autor:
Cristal Hernandez Hernandez, Nhat Duong, Andrea Cohen, Elmer Rajah, Eric Vilain, Daniel Felten, Andrea Gropman, Seth Berger
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101101- (2024)
Externí odkaz:
https://doaj.org/article/a47875e0271546358eddc6375a171096
Autor:
Emmanuèle Délot, Jean Monlong, Xiao Chen, Hayk Barseghyan, Surajit Bhattacharya, Jonathan LoTempio, Brandy McNulty, Shloka Negi, Sara O'Rourke, Alexander Robertson, William Rowell, Seth Berger, Karen Miga, Benedict Paten, Jonah Cool, Eric Vilain
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101732- (2024)
Externí odkaz:
https://doaj.org/article/03e94ecfbbf7404e9a388b52b47eef27
Publikováno v:
PeerJ, Vol 11, p e16515 (2023)
Background The utility of long-read genome sequencing platforms has been shown in many fields including whole genome assembly, metagenomics, and amplicon sequencing. Less clear is the applicability of long reads to reference-guided human genomics, wh
Externí odkaz:
https://doaj.org/article/6160cba905d547e9aa5d39852e623002
Autor:
Andrea Cohen, Joel Hughes, Clifton Dalgard, Paul Kruszka, Emmanuele Delot, Vincent Fusaro, Eric Vilain, Maximilian Muenke, Seth Berger
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100177- (2023)
Externí odkaz:
https://doaj.org/article/a41fc4de120d4ae0905faf239b263aff
Autor:
Eyby Leon, Veronica Gomez-Lobo, Kim Shimy, Maureen Monaghan, Eric Vilain, Daniel Casella, Emmanuele Delot
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100255- (2023)
Externí odkaz:
https://doaj.org/article/e86e4f9a495e4b608aefaee9f284104c
Autor:
Matthew S. Bramble, Neerja Vashist, Arthur Ko, Sambhawa Priya, Céleste Musasa, Alban Mathieu, D’ Andre Spencer, Michel Lupamba Kasendue, Patrick Mamona Dilufwasayo, Kevin Karume, Joanna Nsibu, Hans Manya, Mary N. A. Uy, Brian Colwell, Michael Boivin, J. P. Banae Mayambu, Daniel Okitundu, Arnaud Droit, Dieudonné Mumba Ngoyi, Ran Blekhman, Desire Tshala-Katumbay, Eric Vilain
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)
Here, using metagenomic profiling in 180 individuals from the Democratic Republic of the Congo, the authors find associations between the gut microbiome and konzo, a neurodegenerative disease that mostly affects children and is caused by the consumpt
Externí odkaz:
https://doaj.org/article/b46fefcdd6e94aef9529183f74cc56a9
Publikováno v:
BMC Genomics, Vol 22, Iss 1, Pp 1-16 (2021)
Abstract Background Whole genome sequencing is effective at identification of small variants, but because it is based on short reads, assessment of structural variants (SVs) is limited. The advent of Optical Genome Mapping (OGM), which utilizes long
Externí odkaz:
https://doaj.org/article/111645ff91a4492d86a3333c36c9fb9e