Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Siddharth Karthikeyan"'
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
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:
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