Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Alexis Kubina"'
Autor:
Mayanglambam Dhruba Singh, Matthew Jensen, Micaela Lasser, Emily Huber, Tanzeen Yusuff, Lucilla Pizzo, Brian Lifschutz, Inshya Desai, Alexis Kubina, Sneha Yennawar, Sydney Kim, Janani Iyer, Diego E Rincon-Limas, Laura Anne Lowery, Santhosh Girirajan
Publikováno v:
PLoS Genetics, Vol 16, Iss 2, p e1008590 (2020)
The 1.6 Mbp deletion on chromosome 3q29 is associated with a range of neurodevelopmental disorders, including schizophrenia, autism, microcephaly, and intellectual disability. Despite its importance towards neurodevelopment, the role of individual ge
Externí odkaz:
https://doaj.org/article/70c2a6475aa74212a798ae4353e5a86f
Autor:
Janani Iyer, Mayanglambam Dhruba Singh, Matthew Jensen, Payal Patel, Lucilla Pizzo, Emily Huber, Haley Koerselman, Alexis T. Weiner, Paola Lepanto, Komal Vadodaria, Alexis Kubina, Qingyu Wang, Abigail Talbert, Sneha Yennawar, Jose Badano, J. Robert Manak, Melissa M. Rolls, Arjun Krishnan, Santhosh Girirajan
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-19 (2018)
The 16p11.2 deletion leads to a range of neurodevelopmental phenotypes, but to date, sequencing studies have not been able to pinpoint individual genes that are causative for the disease on their own. Here, using Drosophila homologs of 14 16p11.2 gen
Externí odkaz:
https://doaj.org/article/d7ac17fe1f8f4fac96fe435cdcaaa18c
Autor:
Mayanglambam Dhruba Singh, Tanzeen Yusuff, Lucilla Pizzo, Santhosh Girirajan, Matthew Jensen, Sneha Yennawar, Sydney Kim, Micaela Lasser, Inshya Desai, Alexis Kubina, Laura Anne Lowery, Brian Lifschutz, Diego E. Rincon-Limas, Janani Iyer, Emily Huber
Publikováno v:
PLoS Genetics
PLoS Genetics, Vol 16, Iss 2, p e1008590 (2020)
PLoS Genetics, Vol 16, Iss 2, p e1008590 (2020)
The 1.6 Mbp deletion on chromosome 3q29 is associated with a range of neurodevelopmental disorders, including schizophrenia, autism, microcephaly, and intellectual disability. Despite its importance towards neurodevelopment, the role of individual ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a8b9c4bcbd2a4e38b5b1757342feefc
https://pubmed.ncbi.nlm.nih.gov/32053595
https://pubmed.ncbi.nlm.nih.gov/32053595
Autor:
Santhosh Girirajan, Mayanglambam Dhruba Singh, Tanzeen Yusuff, Alexis Kubina, Brian Lifschutz, Matthew Jensen, Lucilla Pizzo, Micaela Lasser, Sydney Kim, Emily Huber, Janani Iyer, Diego E. Rincon-Limas, Sneha Yennawar, Laura Anne Lowery, Inshya Desai
The 1.6 Mbp deletion on chromosome 3q29 is associated with a range of neurodevelopmental disorders, including schizophrenia, autism, microcephaly, and intellectual disability. Despite its importance towards neurodevelopment, the role of individual ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4bd218ba72a1cdfb7471a6e587ac4589
https://doi.org/10.1101/614750
https://doi.org/10.1101/614750
Autor:
Santhosh Girirajan, Arjun Krishnan, Sneha Yennawar, Abigail Talbert, Paola Lepanto, Jose L. Badano, J. Robert Manak, Komal Vadodaria, Qingyu Wang, Haley Koerselman, Matthew Jensen, Payal Patel, Janani Iyer, Melissa M. Rolls, Emily Huber, Mayanglambam Dhruba Singh, Alexis Kubina, Lucilla Pizzo, Alexis T. Weiner
Rare CNVs such as the 16p11.2 deletion are associated with extensive phenotypic heterogeneity, complicating disease gene discovery and functional evaluation. We used RNA interference in Drosophila melanogaster to evaluate the phenotype, function, and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f54a08d1017c58c90fd5f3be95291f7a
https://doi.org/10.1101/185355
https://doi.org/10.1101/185355