Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Megan M. Martin"'
Autor:
Aparna Prasad, Megan M. Martin, E. Robert Wassman, Rena Vanzo, Sarah T. South, Karen S. Ho, Hope Twede
Publikováno v:
European Journal of Medical Genetics. 62:15-20
Copy number variants (CNV)s involving KANK1 are generally classified as variants of unknown significance. Several clinical case reports suggest that the loss of KANK1 on chromosome 9p24.3 has potential impact on neurodevelopment. These case studies a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26e639a5b950594bb1c0725e00ebe3a1
https://doi.org/10.1016/j.ejmg.2018.04.012
https://doi.org/10.1016/j.ejmg.2018.04.012
Autor:
Moises A. Serrano, Hom Y, Rena Vanzo, Bilancia Cg, Davis Kw, Megan M. Martin, Mohammed Uddin, Rimmasch M
To identify and prioritize candidate disease genes of the central nervous system (CNS) we created the Neurogenetic Systematic Correlation of Omics-Related Evidence (NeuroSCORE). We used five genome-wide metrics highly associated with neurological phe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::708827c17e1945c0071693ee645045ed
https://doi.org/10.1101/2021.02.04.429640
https://doi.org/10.1101/2021.02.04.429640
Autor:
Yolanda Hom, Kyle W. Davis, Megan M. Martin, Mohammed Uddin, Moises A. Serrano, Colleen Bilancia, Megan Rimmasch, Rena Vanzo
Publikováno v:
Molecular Genetics and Metabolism. 132:S263-S264
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::baeefaffc14796c2f0c79c961abefc3f
https://doi.org/10.1016/s1096-7192(21)00488-1
https://doi.org/10.1016/s1096-7192(21)00488-1
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 7, Iss 7, Pp n/a-n/a (2019)
Molecular Genetics & Genomic Medicine, Vol 7, Iss 7, Pp n/a-n/a (2019)
Purpose To assess clinical chromosomal microarray (CMA) genomic testing reports for the following: (a) usage of reporting elements consistent with 2011 ACMG guidelines and other elements identified in the primary literature, (b) information quality,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4c29d4550784e27c070dc42173fd561
https://doi.org/10.1002/mgg3.551
https://doi.org/10.1002/mgg3.551
Autor:
Ling Ling, Solange M. Aliaga, Minh Bui, Hope Twede, Rena Vanzo, Michael H. Field, David Francis, David J. Amor, David E. Godler, Jonathon W. Morison, Megan M. Martin, Charles H. Hensel
Publikováno v:
Scientific Reports
Scientific Reports, Vol 9, Iss 1, Pp 1-11 (2019)
Scientific Reports, Vol 9, Iss 1, Pp 1-11 (2019)
In 2016, Methylation-Specific Quantitative Melt Analysis (MS-QMA) on 3,340 male probands increased diagnostic yield from 1.60% to 1.84% for fragile X syndrome (FXS) using a pooling approach. In this study probands from Lineagen (UT, U.S.A.) of both s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df9e1ab00d0685ce81ca9608555dcf91
https://pubmed.ncbi.nlm.nih.gov/31653898
https://pubmed.ncbi.nlm.nih.gov/31653898
Autor:
Aparna Prasad, Hope Twede, Karen S. Ho, Stephanie Page, Kyle W. Davis, E. Robert Wassman, Moises A. Serrano, Andreas Peiffer, Megan M. Martin, Diana Bertrand, Mohammed Uddin, Stephen W. Scherer, Rena Vanzo, Charles H. Hensel
Publikováno v:
Neurology: Genetics
ObjectiveTo evaluate a new tool to aid interpretation of copy number variants (CNVs) in individuals with neurodevelopmental disabilities.MethodsCritical exon indexing (CEI) was used to identify genes with critical exons (CEGs) from clinically reporte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0644ba70a354a0029a1e458cbe60b22
https://doi.org/10.1212/nxg.0000000000000378
https://doi.org/10.1212/nxg.0000000000000378
Publikováno v:
Journal of Community Genetics. 6:343-349
Chromosomal microarray is the recommended first-tier genetic test when a child presents with idiopathic developmental delay (DD), intellectual disability (ID), and/or autism spectrum disorder (ASD). Microarray may discover variants of unknown clinica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f26c79cbcf44a10d060f49dbbd4da698
https://doi.org/10.1007/s12687-015-0218-4
https://doi.org/10.1007/s12687-015-0218-4
Publikováno v:
Journal of Genetic Counseling. 24:503-511
Cognitively impaired patients with dementia often rely on health advocates or guardians, such as spouses or adult offspring, to consent for medical procedures. These family members may also decide whether an autopsy is performed after death or whethe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3db3404e45a6578cbb2f900c42adddbf
https://doi.org/10.1007/s10897-015-9818-8
https://doi.org/10.1007/s10897-015-9818-8
Autor:
Kenneth Ward, Karen S. Ho, Charles H. Hensel, Brynn Levy, Sarah T. South, Rena Vanzo, Edward Robert Wassman, Moises A. Serrano, Sean Dixon, Christophe G. Lambert, Lesa Nelson, Patricia Rushton, Andy Peiffer, Megan M. Martin
Publikováno v:
PLoS Currents
Introduction: Chromosomal microarray analysis (CMA) is recognized as the first-tier test in the genetic evaluation of children with developmental delays, intellectual disabilities, congenital anomalies and autism spectrum disorders of unknown etiolog
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69ead23274fe98c4dec6c15393da3acd
https://pubmed.ncbi.nlm.nih.gov/28357155
https://pubmed.ncbi.nlm.nih.gov/28357155
Publikováno v:
European Journal of Medical Genetics. 56:256-259
Deletion of the KANK1 gene (also called ANKRD15), located at chromosome position 9p24.3, has been associated with neurodevelopmental disease including congenital cerebral palsy, hypotonia, quadriplegia, and intellectual disability in a four-generatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32d63fe4321c3e370e67c234a3fbf91d
https://doi.org/10.1016/j.ejmg.2013.02.006
https://doi.org/10.1016/j.ejmg.2013.02.006