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Akademický článek

Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders

Autor: Gregory Costain, Susan Walker, Bob Argiropoulos, Danielle A. Baribeau, Anne S. Bassett, Erik Boot, Koen Devriendt, Barbara Kellam, Christian R. Marshall, Aparna Prasad, Moises A. Serrano, D. James Stavropoulos, Hope Twede, Joris R. Vermeesch, Jacob A. S. Vorstman, Stephen W. Scherer

Publikováno v: Journal of Neurodevelopmental Disorders, Vol 11, Iss 1, Pp 1-10 (2019)

Abstract Background Ultra-rare genetic variants, including non-recurrent copy number variations (CNVs) affecting important dosage-sensitive genes, are important contributors to the etiology of neurodevelopmental disorders (NDDs). Pairing family-based

Externí odkaz: https://doaj.org/article/6593be5fa35b44bd98744295b24e8adb

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A Comparison of Wearable Tonometry, Photoplethysmography, and Electrocardiography for Cuffless Measurement of Blood Pressure in an Ambulatory Setting

Publikováno v: IEEE Journal of Biomedical and Health Informatics. 26:2864-2875

While non-invasive, cuffless blood pressure (BP) measurement has demonstrated relevancy in controlled environments, ambulatory measurement is important for hypertension diagnosis and control. We present both in-lab and ambulatory BP estimation result

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae509edab4c518739cc77264351fb2b7
https://doi.org/10.1109/jbhi.2022.3153259

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Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders

Autor: Koen Devriendt, Danielle A. Baribeau, Barbara Kellam, Bob Argiropoulos, Moises A. Serrano, Stephen W. Scherer, Christian R. Marshall, D James Stavropoulos, Hope Twede, Anne S. Bassett, Jacob A. S. Vorstman, Gregory Costain, Susan Walker, Joris Vermeesch, Erik Boot, Aparna Prasad

Publikováno v: Journal of Neurodevelopmental Disorders, Vol 11, Iss 1, Pp 1-10 (2019)
Journal of Neurodevelopmental Disorders

BACKGROUND: Ultra-rare genetic variants, including non-recurrent copy number variations (CNVs) affecting important dosage-sensitive genes, are important contributors to the etiology of neurodevelopmental disorders (NDDs). Pairing family-based whole-g

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1846abc3912169413ceac0e243b00321
http://link.springer.com/article/10.1186/s11689-019-9263-3

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Clinical significance of copy number variants involving KANK1 in patients with neurodevelopmental disorders

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

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A survey of antiepileptic drug responses identifies drugs with potential efficacy for seizure control in Wolf–Hirschhorn syndrome

Autor: Karen S. Ho, Leah M. Markham, Hope Twede, Amanda Lortz, Lenora M. Olson, Xiaoming Sheng, Cindy Weng, E. Robert Wassman, Tara Newcomb, John C. Carey, Agatino Battaglia

Publikováno v: Epilepsy & Behavior. 81:55-61

Seizures are present in over 90% of infants and children with Wolf-Hirschhorn syndrome (WHS). When present, they significantly affect quality of life. The goal of this study was to use caregiver reports to describe the comparative efficacies of commo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8533f49f2f0d7efbfaa064c93a21795
https://doi.org/10.1016/j.yebeh.2017.12.008

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Abnormally Methylated FMR1 in Absence of a Detectable Full Mutation in a U.S.A Patient Cohort Referred for Fragile X Testing

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)

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

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Critical exon indexing improves clinical interpretation of copy number variants in neurodevelopmental disorders

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

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Clinical Performance of an Ultrahigh Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders

Autor: Moises A. Serrano, Rena Vanzo, Karen S. Ho, Megan M. Martin, Hope Twede, E. Robert Wassman, Patricia Mowery-Rushton, Stephanie Page, Erin Harward, Andreas Peiffer, Charles H. Hensel

Publikováno v: BioMed Research International, Vol 2016 (2016)
BioMed Research International

Copy number variants (CNVs) as detected by chromosomal microarray analysis (CMA) significantly contribute to the etiology of neurodevelopmental disorders, such as developmental delay (DD), intellectual disability (ID), and autism spectrum disorder (A

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee2f1cd1548a295f4cd8b2471d1d9d85
https://doaj.org/article/b0ac558de9a24d41883c9f5834edfb7f

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Chromosomal Microarray Analysis of Consecutive Individuals with Autism Spectrum Disorders Using an Ultra-High Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders

Autor: Karen S. Ho, Edward Robert Wassman, Hope Twede, Megan M. Martin, Rena Vanzo, Merlin G. Butler, Charles Hensel, Aparna Prasad, Adrianne L. Baxter

Publikováno v: International Journal of Molecular Sciences, Vol 17, Iss 12, p 2070 (2016)
International Journal of Molecular Sciences; Volume 17; Issue 12; Pages: 2070
International Journal of Molecular Sciences

Copy number variants (CNVs) detected by chromosomal microarray analysis (CMA) significantly contribute to understanding the etiology of autism spectrum disorder (ASD) and other related conditions. In recognition of the value of CMA testing and its im

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8ac243e779d2408c18b55e58ed6bc3e
https://doi.org/10.3390/ijms17122070

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