Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Micaela, Lasser"'
Autor:
Micaela Lasser, Jessica Bolduc, Luke Murphy, Caroline O'Brien, Sangmook Lee, Santhosh Girirajan, Laura Anne Lowery
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Copy number variants (CNVs) associated with neurodevelopmental disorders are characterized by extensive phenotypic heterogeneity. In particular, one CNV was identified in a subset of children clinically diagnosed with intellectual disabilities (ID) t
Externí odkaz:
https://doaj.org/article/5c5eb50256d544b88350b791cab466e7
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:
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
Publikováno v:
Frontiers in Physiology, Vol 10 (2019)
Wolf–Hirschhorn syndrome (WHS) is a rare developmental disorder characterized by intellectual disability and various physical malformations including craniofacial, skeletal, and cardiac defects. These phenotypes, as they involve structures that are
Externí odkaz:
https://doaj.org/article/e6f79eb2b5a74469b1eea88f1ceb63a6
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 12 (2018)
Neurons depend on the highly dynamic microtubule (MT) cytoskeleton for many different processes during early embryonic development including cell division and migration, intracellular trafficking and signal transduction, as well as proper axon guidan
Externí odkaz:
https://doaj.org/article/7a55261ff4fe4f6ba52a09d39032fd8e
Autor:
Micaela Lasser, Nawei Sun, Yuxiao Xu, Karen Law, Silvano Gonzalez, Belinda Wang, Vanessa Drury, Sam Drake, Yefim Zaltsman, Jeanselle Dea, Ethel Bader, Kate E. McCluskey, Matthew W. State, A. Jeremy Willsey, Helen Rankin Willsey
Gene ontology analyses of high confidence autism spectrum disorder (hcASD) risk genes have historically highlighted chromatin regulation and synaptic function as major contributors to pathobiology. Our recent functional workin vivohas additionally im
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d5d3c7b8fa91036bfeae2c00ccbb78d8
https://doi.org/10.1101/2022.12.07.519375
https://doi.org/10.1101/2022.12.07.519375
Autor:
Micaela, Lasser, Jessica, Bolduc, Luke, Murphy, Caroline, O'Brien, Sangmook, Lee, Santhosh, Girirajan, Laura Anne, Lowery
Publikováno v:
Frontiers in genetics. 13
Copy number variants (CNVs) associated with neurodevelopmental disorders are characterized by extensive phenotypic heterogeneity. In particular, one CNV was identified in a subset of children clinically diagnosed with intellectual disabilities (ID) t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b59dab21fbabaf60ceb8049cc031ac2e
https://pubmed.ncbi.nlm.nih.gov/35401697
https://pubmed.ncbi.nlm.nih.gov/35401697
Autor:
Sangmook Lee, Santhosh Girirajan, Micaela Lasser, Laura Anne Lowery, Bolduc J, O'Brien C, Murphy L
Copy number variants (CNVs) associated with neurodevelopmental disorders are characterized by extensive phenotypic heterogeneity. In particular, one CNV was identified in a subset of children clinically diagnosed with intellectual disabilities (ID) t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bf1d139e98f63a9ad8394a9c5dafa4a1
https://doi.org/10.1101/2020.12.11.421347
https://doi.org/10.1101/2020.12.11.421347
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
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