Zobrazeno 1 - 10
of 98
pro vyhledávání: '"Robert W Marion"'
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 16, Iss 1, Pp 1-13 (2024)
Abstract We describe a multidisciplinary teamwork approach known as “Operation IDD Gene Team” developed by the Rose F. Kennedy Intellectual and Developmental Disabilities Research Center (RFK IDDRC) at the Albert Einstein College of Medicine. Thi
Externí odkaz:
https://doaj.org/article/58dfd706e5b94bcc80a678e69e80ca78
Autor:
Maria Delio, Kunjan Patel, Alex Maslov, Robert W Marion, Thomas V McDonald, Evan M Cadoff, Aaron Golden, John M Greally, Jan Vijg, Bernice Morrow, Cristina Montagna
Publikováno v:
PLoS ONE, Vol 10, Iss 7, p e0133742 (2015)
While next generation sequencing (NGS) is a useful tool for the identification of genetic variants to aid diagnosis and support therapy decision, high sequencing costs have limited its application within routine clinical care, especially in economica
Externí odkaz:
https://doaj.org/article/b00fe29eba5d4aae922b4802bd2aa89e
Autor:
Esther R Berko, Masako Suzuki, Faygel Beren, Christophe Lemetre, Christine M Alaimo, R Brent Calder, Karen Ballaban-Gil, Batya Gounder, Kaylee Kampf, Jill Kirschen, Shahina B Maqbool, Zeineen Momin, David M Reynolds, Natalie Russo, Lisa Shulman, Edyta Stasiek, Jessica Tozour, Maria Valicenti-McDermott, Shenglong Wang, Brett S Abrahams, Joseph Hargitai, Dov Inbar, Zhengdong Zhang, Joseph D Buxbaum, Sophie Molholm, John J Foxe, Robert W Marion, Adam Auton, John M Greally
Publikováno v:
PLoS Genetics, Vol 10, Iss 5, p e1004402 (2014)
DNA mutational events are increasingly being identified in autism spectrum disorder (ASD), but the potential additional role of dysregulation of the epigenome in the pathogenesis of the condition remains unclear. The epigenome is of interest as a pos
Externí odkaz:
https://doaj.org/article/a803dd8795744243ae732bdcac7b9739
Publikováno v:
Am J Med Genet A
Loss of function variants in the lysine demethylase 5C (KDM5C) gene account for approximately 0.7%-2.8% of X-linked intellectual disability (ID) cases and pose significant burdens for patients and their caregivers. To date, 45 unique variants in KDM5
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99af499531dcfb2b0acd75dd44fad2f2
https://doi.org/10.1002/ajmg.a.62381
https://doi.org/10.1002/ajmg.a.62381
Autor:
Esma D. Paljevic, Robert W. Marion
Publikováno v:
Pediatrics In Review. 41:41-44
1. Robert W. Marion, MD* 2. Esma Paljevic, PNP† 1. *Children’s Hospital at Montefiore/Albert Einstein College of Medicine, Bronx, NY 2. †Pace University School of Nursing, Pleasantville, NY The glycogen storage diseases (GSDs) are a group of in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab9613f08de4cc84f3a5142082b363c6
https://doi.org/10.1542/pir.2018-0146
https://doi.org/10.1542/pir.2018-0146
Autor:
Robert J. Ostfeld, M. H. Ghalib, Steven R. Cohen, Jonathan C. Lin, Daniele Massera, Lauren Graf, Robert W. Marion
Publikováno v:
Clinical Nutrition ESPEN. 24:54-57
Oral retinoids are commonly prescribed for many dermatological conditions and may induce hyperlipidemia. We document the case of a 35-year-old man taking acitretin for congenital lamellar ichthyosis associated with a homozygous deleterious mutation i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd569eab23de1bb1b83cba126cbf6489
https://doi.org/10.1016/j.clnesp.2018.01.070
https://doi.org/10.1016/j.clnesp.2018.01.070
Autor:
Thomas V. McDonald, Bo Zhou, Lisa Rojas, Sung Yon Um, Lucy S. Eng, Yingying Tang, Dawei Wang, Nori Williams, Barbara A. Sampson, Robert W. Marion, Kevin Ruiter, Ying Lin
Publikováno v:
Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology. 37
Our aim is to characterize predicted protein-truncating variants (PTVs) in MYBPC3, the gene most commonly associated with hypertrophic cardiomyopathy (HCM), found in a series of autopsied HCM cases after sudden unexpected cardiac death. All cases und
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6cc978e71a8a73255f65c7ad6939673
https://pubmed.ncbi.nlm.nih.gov/30282064
https://pubmed.ncbi.nlm.nih.gov/30282064
Autor:
Lilian L. Cohen, Marina Stolerman, Siobhan M. Dolan, Esma Paljevic, Thomas V. McDonald, Christine A. Walsh, Nadia Hidayatallah, David H. Wasserman, Louise Bordeaux Silverstein, Robert W. Marion
Publikováno v:
Qualitative Health Research. 24:1315-1328
In this article we describe a qualitative research study in which we explored individuals’ subjective experiences of both genetic testing and cardiogenetic disorders. Using a grounded theory approach, we coded and analyzed interview and focus group
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ba1797203346ed69d0fd79d3ff4ab4a
https://doi.org/10.1177/1049732314546754
https://doi.org/10.1177/1049732314546754
Publikováno v:
Human Mutation. 40:357-357
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1924376117dcbd2452bcd018c75e1aca
https://doi.org/10.1002/humu.23711
https://doi.org/10.1002/humu.23711
Autor:
Thomas V. McDonald, Marina Stolerman, Lilian L. Cohen, Robert W. Marion, Esma Paljevic, David H. Wasserman, Nicole DeGroat, Eleanor Griffith, Siobhan M. Dolan, Christine A. Walsh, Nadia Hidayatallah, Louise Bordeaux Silverstein, Kathleen E. Erskine
Publikováno v:
Personalized Medicine. 10:73-80
In the genomic age, the challenges presented by various inherited conditions present a compelling argument for an interdisciplinary model of care. Cardiac arrhythmias with a genetic basis, such as long QT syndrome, require clinicians with expertise i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6296728311daae1087a1fd9bfd1efcfe
https://doi.org/10.2217/pme.12.108
https://doi.org/10.2217/pme.12.108