Zobrazeno 1 - 10
of 587
pro vyhledávání: '"G. Biesecker"'
Autor:
Christopher A. Ours, Anna Buser, Mia B. Hodges, Marcus Y. Chen, Julie C. Sapp, Bernadette R. Gochuico, Leslie G. Biesecker
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-10 (2024)
Abstract Background Proteus syndrome is an ultra-rare mosaic overgrowth disorder. Individuals with Proteus syndrome can develop emphysematous and cystic changes of the lung that may lead to progressive respiratory symptoms and require surgical interv
Externí odkaz:
https://doaj.org/article/e6a581b3e7f248d4b1214d0ed1831845
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-8 (2022)
Abstract Background Clinical outcome assessments are important tools for measuring the natural history of disease and efficacy of an intervention. The heterogenous phenotype and difficult to quantity features of Proteus syndrome present challenges to
Externí odkaz:
https://doaj.org/article/4fb8fe41241e4e85841f727d3fa8a954
Publikováno v:
JAAD Case Reports, Vol 20, Iss , Pp 47-49 (2022)
Externí odkaz:
https://doaj.org/article/8274486a281a4f8288bd1029f2d8c495
Autor:
Jeffrey N. Dudley, Celine S. Hong, Marwan A. Hawari, Jasmine Shwetar, Julie C. Sapp, Justin Lack, Henoke Shiferaw, NISC Comparative Sequencing Program, Jennifer J. Johnston, Leslie G. Biesecker
Publikováno v:
BMC Bioinformatics, Vol 22, Iss 1, Pp 1-17 (2021)
Abstract Background The widespread use of next-generation sequencing has identified an important role for somatic mosaicism in many diseases. However, detecting low-level mosaic variants from next-generation sequencing data remains challenging. Resul
Externí odkaz:
https://doaj.org/article/ef209cf7fefe41e7888cace1d84a2c3f
Publikováno v:
BMC Bioinformatics, Vol 22, Iss 1, Pp 1-13 (2021)
Abstract Background Somatic single nucleotide variants have gained increased attention because of their role in cancer development and the widespread use of high-throughput sequencing techniques. The necessity to accurately identify these variants in
Externí odkaz:
https://doaj.org/article/3584498ce14347b69550ea160973bd28
Autor:
S. Mojdeh Mirmomen, Andrew E. Arai, Evrim B. Turkbey, Andrew J. Bradley, Julie C. Sapp, Leslie G. Biesecker, Arlene Sirajuddin
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
Abstract In this work, we sought to delineate the prevalence of cardiothoracic imaging findings of Proteus syndrome in a large cohort at our institution. Of 53 individuals with a confirmed diagnosis of Proteus syndrome at our institution from 10/2001
Externí odkaz:
https://doaj.org/article/6ca8f786b3a44395b78077068c90752e
Autor:
Ioannis G. Koutlas, Ana-Lia Anbinder, Rana Alshagroud, Ana Sueli Rodrigues Cavalcante, Mohammed Al Kindi, Molly M. Crenshaw, Julie C. Sapp, Hannah Kondolf, Marjorie J. Lindhurst, Jeffrey N. Dudley, Jennifer J. Johnston, Elyse Ryan, Keith Rafferty, Arupa Ganguly, Leslie G. Biesecker
Publikováno v:
HGG Advances, Vol 3, Iss 1, Pp 100062- (2022)
Externí odkaz:
https://doaj.org/article/017b05f957204e46ba10448d5a293aef
Autor:
Alexander M. Cartron, BS, Deeti J. Pithadia, MD, Anna Buser, BS, Leslie G. Biesecker, MD, Thomas N. Darling, MD, PhD
Publikováno v:
JAAD Case Reports, Vol 6, Iss 10, Pp 1072-1074 (2020)
Externí odkaz:
https://doaj.org/article/0ba6ae5b91eb4ebab91d2baea53d84c3
Autor:
Sarah E. Brnich, Ahmad N. Abou Tayoun, Fergus J. Couch, Garry R. Cutting, Marc S. Greenblatt, Christopher D. Heinen, Dona M. Kanavy, Xi Luo, Shannon M. McNulty, Lea M. Starita, Sean V. Tavtigian, Matt W. Wright, Steven M. Harrison, Leslie G. Biesecker, Jonathan S. Berg, On behalf of the Clinical Genome Resource Sequence Variant Interpretation Working Group
Publikováno v:
Genome Medicine, Vol 12, Iss 1, Pp 1-12 (2019)
Abstract Background The American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) clinical variant interpretation guidelines established criteria for different types of evidence. This includes the strong evide
Externí odkaz:
https://doaj.org/article/4407a9ebc41048f29d3325398d3b8d31
Autor:
Ioannis G. Koutlas, Ana-Lia Anbinder, Rana Alshagroud, Ana Sueli Rodrigues Cavalcante, Mohammed Al Kindi, Molly M. Crenshaw, Julie C. Sapp, Hannah Kondolf, Marjorie J. Lindhurst, Jeffrey N. Dudley, Jennifer J. Johnston, Elyse Ryan, Keith Rafferty, Arupa Ganguly, Leslie G. Biesecker
Publikováno v:
HGG Advances, Vol 1, Iss 1, Pp 100009- (2020)
Summary: Individuals with orofacial asymmetry due to mucosal overgrowths, ipsilateral bone and dental aberrations with perineurial hyperplasia and/or perineuriomatous pseudo-onion bulb proliferations, comprise a recognizable clinical entity. In this
Externí odkaz:
https://doaj.org/article/a0f4c2b0f4914489a3dac8b25fd7a8bc