Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Sneha Yennawar"'
Autor:
Lucilla Pizzo, Micaela Lasser, Tanzeen Yusuff, Matthew Jensen, Phoebe Ingraham, Emily Huber, Mayanglambam Dhruba Singh, Connor Monahan, Janani Iyer, Inshya Desai, Siddharth Karthikeyan, Dagny J Gould, Sneha Yennawar, Alexis T Weiner, Vijay Kumar Pounraja, Arjun Krishnan, Melissa M Rolls, Laura Anne Lowery, Santhosh Girirajan
Publikováno v:
PLoS Genetics, Vol 17, Iss 4, p e1009112 (2021)
We previously identified a deletion on chromosome 16p12.1 that is mostly inherited and associated with multiple neurodevelopmental outcomes, where severely affected probands carried an excess of rare pathogenic variants compared to mildly affected ca
Externí odkaz:
https://doaj.org/article/ea88765e5dca40999d37fc1d27f96ec3
Autor:
Tanzeen Yusuff, Matthew Jensen, Sneha Yennawar, Lucilla Pizzo, Siddharth Karthikeyan, Dagny J Gould, Avik Sarker, Erika Gedvilaite, Yurika Matsui, Janani Iyer, Zhi-Chun Lai, Santhosh Girirajan
Publikováno v:
PLoS Genetics, Vol 16, Iss 6, p e1008792 (2020)
While rare pathogenic copy-number variants (CNVs) are associated with both neuronal and non-neuronal phenotypes, functional studies evaluating these regions have focused on the molecular basis of neuronal defects. We report a systematic functional an
Externí odkaz:
https://doaj.org/article/5f99cb0ded5442ca8e008ae6d0d92172
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
Functional assessment of the 'two-hit' model for neurodevelopmental defects inDrosophilaandX. laevis
Autor:
Connor Monahan, Arjun Krishnan, Emily Huber, Alexis T. Weiner, Laura Anne Lowery, Matthew Jensen, Melissa M. Rolls, Lucilla Pizzo, Sneha Yennawar, Inshya Desai, Vijay Kumar Pounraja, Tanzeen Yusuff, Phoebe Ingraham, Siddharth Karthikeyan, Janani Iyer, Santhosh Girirajan, Micaela Lasser, Mayanglambam Dhruba Singh, Dagny J. Gould
We previously identified a deletion on chromosome 16p12.1 that is mostly inherited and associated with multiple neurodevelopmental outcomes, where severely affected probands carried an excess of rare pathogenic variants compared to mildly affected ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4aba6a49514567cae406c1fbb7a55d13
https://doi.org/10.1101/2020.09.14.295923
https://doi.org/10.1101/2020.09.14.295923
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
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:
Sneha Yennawar, Emily Huber, Janani Iyer, Tanzeen Yusuff, Alexis T. Weiner, Siddharth Karthikeyan, Phoebe Ingraham, Vijay Kumar Pounraja, Micaela Lasser, Connor Monahan, Mayanglambam Dhruba Singh, Dagny J. Gould, Inshya Desai, Laura Anne Lowery, Lucilla Pizzo, Arjun Krishnan, Santhosh Girirajan, Matthew Jensen, Melissa M. Rolls
Publikováno v:
PLoS Genetics, Vol 17, Iss 4, p e1009112 (2021)
PLoS Genetics
PLoS Genetics
We previously identified a deletion on chromosome 16p12.1 that is mostly inherited and associated with multiple neurodevelopmental outcomes, where severely affected probands carried an excess of rare pathogenic variants compared to mildly affected ca
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