Zobrazeno 1 - 10
of 1 778
pro vyhledávání: '"J Raphael"'
Publikováno v:
Journal of Marine Medical Society, Vol 16, Iss 2, Pp 123-126 (2014)
Background: The treatment of carcinoma breast requires a multidisciplinary approach with the integration of surgery, chemotherapy and radiation therapy. The advent of screening and increased awareness among the public has led to a increased number of
Externí odkaz:
https://doaj.org/article/0685342fc3544a11887b3c5df75511ab
Autor:
Pilar Alvarez Jerez, Kensuke Daida, Francis P. Grenn, Laksh Malik, Abigail Miano-Burkhardt, Mary B. Makarious, Jinhui Ding, J. Raphael Gibbs, Anni Moore, Xylena Reed, Mike A. Nalls, Syed Shah, Medhat Mahmoud, Fritz J. Sedlazeck, Egor Dolzhenko, Morgan Park, Hirotaka Iwaki, Bradford Casey, Mina Ryten, Cornelis Blauwendraat, Andrew B. Singleton, Kimberley J. Billingsley
Publikováno v:
npj Parkinson's Disease, Vol 10, Iss 1, Pp 1-8 (2024)
Abstract Parkinson’s disease (PD) is a common neurodegenerative disorder with a significant risk proportion driven by genetics. While much progress has been made, most of the heritability remains unknown. This is in-part because previous genetic st
Externí odkaz:
https://doaj.org/article/ad275f9f7d4642cda67c724c9f061ff7
Autor:
Petra Wildgoose, Filomena Servidio-Italiano, Michael J. Raphael, Monika Slovinec D’Angelo, Cassandra Macaulay, Shaqil Kassam, Nancy Nixon, José Perea, Sarah Hamilton, Ravi Ramjeesingh, Sharlene Gill, Aaron Pollett, Shuji Ogino, Tomotaka Ugai, Abha Gupta
Publikováno v:
Current Oncology, Vol 31, Iss 7, Pp 4063-4078 (2024)
A multi-disciplinary symposium on early-age onset cancer (EAOC) was held in October 2023 to explore challenges experienced by this rapidly growing population. A major outcome of the symposium was recognition of the remarkable similarities of EAOC pat
Externí odkaz:
https://doaj.org/article/238678e7edb14100aa41f22accc42530
Autor:
Gamze Guven, Ebba Lohmann, Jose Bras, J Raphael Gibbs, Hakan Gurvit, Basar Bilgic, Hasmet Hanagasi, Patrizia Rizzu, Peter Heutink, Murat Emre, Nihan Erginel-Unaltuna, Walter Just, John Hardy, Andrew Singleton, Rita Guerreiro
Publikováno v:
PLoS ONE, Vol 11, Iss 9, p e0162592 (2016)
'Microtubule-associated protein tau' (MAPT), 'granulin' (GRN) and 'chromosome 9 open reading frame72' (C9ORF72) gene mutations are the major known genetic causes of frontotemporal dementia (FTD). Recent studies suggest that mutations in these genes m
Externí odkaz:
https://doaj.org/article/565a694955634103955bf34667d877b8
Autor:
Pilar Alvarez Jerez, Kensuke Daida, Abigail Miano-Burkhardt, Hirotaka Iwaki, Laksh Malik, Guillaume Cogan, Mary B. Makarious, Roisin Sullivan, Jana Vandrovcova, Jinhui Ding, J. Raphael Gibbs, Androo Markham, Mike A. Nalls, Rupesh K. Kesharwani, Fritz J. Sedlazeck, Bradford Casey, John Hardy, Henry Houlden, Cornelis Blauwendraat, Andrew B. Singleton, Kimberley J. Billingsley
Publikováno v:
npj Parkinson's Disease, Vol 10, Iss 1, Pp 1-4 (2024)
Abstract A biallelic (AAGGG) expansion in the poly(A) tail of an AluSx3 transposable element within the gene RFC1 is a frequent cause of cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS), and more recently, has been reported as a
Externí odkaz:
https://doaj.org/article/17599c960b3547c8b258745f95626779
Autor:
Matthew A. Myers, Brian J. Arnold, Vineet Bansal, Metin Balaban, Katelyn M. Mullen, Simone Zaccaria, Benjamin J. Raphael
Publikováno v:
Genome Biology, Vol 25, Iss 1, Pp 1-28 (2024)
Abstract Bulk DNA sequencing of multiple samples from the same tumor is becoming common, yet most methods to infer copy-number aberrations (CNAs) from this data analyze individual samples independently. We introduce HATCHet2, an algorithm to identify
Externí odkaz:
https://doaj.org/article/ef907d97ffe74c0c88e8cee6b183c84e
Autor:
Stephanie Snow, Christine Brezden-Masley, Michael D. Carter, Neesha Dhani, Cassandra Macaulay, Ravi Ramjeesingh, Michael J. Raphael, Monika Slovinec D’Angelo, Filomena Servidio-Italiano
Publikováno v:
Current Oncology, Vol 31, Iss 3, Pp 1359-1375 (2024)
Genomic medicine is a powerful tool to improve diagnosis and outcomes for cancer patients by facilitating the delivery of the right drug at the right dose at the right time for the right patient. In 2023, a Canadian conference brought together leader
Externí odkaz:
https://doaj.org/article/317a704106c04acd9e864441830b5a9e
Autor:
Ece Bayram, Paolo Reho, Irene Litvan, International LBD Genomics Consortium, Jinhui Ding, J. Raphael Gibbs, Clifton L. Dalgard, Bryan J. Traynor, Sonja W. Scholz, Ruth Chia
Publikováno v:
npj Parkinson's Disease, Vol 10, Iss 1, Pp 1-9 (2024)
Abstract Sex influences the prevalence and symptoms of Lewy body dementia (LBD). However, genome-wide association studies typically focus on autosomal variants and exclude sex-specific risk factors. We addressed this gap by performing an X chromosome
Externí odkaz:
https://doaj.org/article/4b0bdd16236c46ffb7fc3ff2e86da758
Autor:
Andrew R Wood, John R B Perry, Toshiko Tanaka, Dena G Hernandez, Hou-Feng Zheng, David Melzer, J Raphael Gibbs, Michael A Nalls, Michael N Weedon, Tim D Spector, J Brent Richards, Stefania Bandinelli, Luigi Ferrucci, Andrew B Singleton, Timothy M Frayling
Publikováno v:
PLoS ONE, Vol 8, Iss 5, p e64343 (2013)
Genome-wide association (GWA) studies have been limited by the reliance on common variants present on microarrays or imputable from the HapMap Project data. More recently, the completion of the 1000 Genomes Project has provided variant and haplotype
Externí odkaz:
https://doaj.org/article/7a27307e3de1441f92e0ab8fe5deb441
Autor:
J Raphael Gibbs, Marcel P van der Brug, Dena G Hernandez, Bryan J Traynor, Michael A Nalls, Shiao-Lin Lai, Sampath Arepalli, Allissa Dillman, Ian P Rafferty, Juan Troncoso, Robert Johnson, H Ronald Zielke, Luigi Ferrucci, Dan L Longo, Mark R Cookson, Andrew B Singleton
Publikováno v:
PLoS Genetics, Vol 6, Iss 5, p e1000952 (2010)
A fundamental challenge in the post-genome era is to understand and annotate the consequences of genetic variation, particularly within the context of human tissues. We present a set of integrated experiments that investigate the effects of common ge
Externí odkaz:
https://doaj.org/article/2c6bddb840f5434bb40322ece5b8e839