Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Carol Bocchini"'
P451: The Gene Curation Coalition works to resolve discrepancies in gene-disease validity assertions
Autor:
Marina DiStefano, Joanna Amberger, Christina Austin-Tse, Marie Balzotti, Mutaz Amin, Jonathan Berg, Carol Bocchini, Elspeth Bruford, Fowzan Alkuraya, Alison Coffey, Heather Collins, Fiona Cunningham, Helen Firth, David Fitzpatrick, Yaron Einhorn, Jennifer Goldstein, Ada Hamosh, Sarah Leigh, Ivone Leong, Christa Martin, Ellen McDonagh, Arina Puzriakova, Ana Rath, Angharad Roberts, Kelly Radtke, Erin Ramos, Erin Riggs, Charlotte Rodwell, Katrin Sangkuhl, Catherine Snow, Zornitza Stark, Jackie Tahiliani, James Ware, Eleanor Williams, Caroline Wright, Michael Yates, Phillip Weller, Heidi Rehm
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100498- (2023)
Externí odkaz:
https://doaj.org/article/33db357776d94cb5babd1aacc95aaecd
Autor:
Marina T. DiStefano, Scott Goehringer, Lawrence Babb, Fowzan S. Alkuraya, Joanna Amberger, Mutaz Amin, Christina Austin-Tse, Marie Balzotti, Jonathan S. Berg, Ewan Birney, Carol Bocchini, Elspeth A. Bruford, Alison J. Coffey, Heather Collins, Fiona Cunningham, Louise C. Daugherty, Yaron Einhorn, Helen V. Firth, David R. Fitzpatrick, Rebecca E. Foulger, Jennifer Goldstein, Ada Hamosh, Matthew R. Hurles, Sarah E. Leigh, Ivone US. Leong, Sateesh Maddirevula, Christa L. Martin, Ellen M. McDonagh, Annie Olry, Arina Puzriakova, Kelly Radtke, Erin M. Ramos, Ana Rath, Erin Rooney Riggs, Angharad M. Roberts, Charlotte Rodwell, Catherine Snow, Zornitza Stark, Jackie Tahiliani, Susan Tweedie, James S. Ware, Phillip Weller, Eleanor Williams, Caroline F. Wright, T Michael. Yates, Heidi L. Rehm
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 24(8)
PURPOSESeveral groups and resources provide information that pertains to the validity of gene-disease relationships used in genomic medicine and research; however, universal standards and terminologies to define the evidence base for the role of a ge
Autor:
Sonja A. Rasmussen, Ada Hamosh, Joanna Amberger, Cassandra Arnold, Carol Bocchini, Marla J.F. O‘Neill, Anne Stumpf
Publikováno v:
Genetics in Medicine
Autor:
Arina Puzriakova, Charlotte Rodwell, Kelly Radtke, Alison J. Coffey, Fiona Cunningham, Angharad M. Roberts, Sarah Leigh, Joanna S. Amberger, Erin Rooney Riggs, Ana Rath, Christina Austin Tse, Michael Yates, Marina T. DiStefano, Ada Hamosh, James S. Ware, Annie Olry, Jennifer L. Goldstein, Carol Bocchini, Eleanor Williams, Catherine E. Snow, Christa Lese Martin, Scott R. Goehringer, Heidi L. Rehm, Matthew E. Hurles, David R. FitzPatrick, Ivone U. S. Leong, Elspeth A. Bruford, Ellen M. McDonagh, Jackie Tahiliani, Helen V. Firth, Zornitza Stark, Caroline F. Wright, Ewan Birney, Jonathan S. Berg, Erin M. Ramos, Marie Balzotti, Heather Collins
Publikováno v:
Molecular Genetics and Metabolism. 132:S224-S225
Autor:
Johanna Christina Czeschik, Sebastian Köhler, Carol Bocchini, Julian Veldboer, Joanna S. Amberger, Damian Smedley, Peter N. Robinson, Ada Hamosh, Tomasz Zemojtel
Publikováno v:
Bioinformatics
Motivation : Whole-exome sequencing (WES) has opened up previously unheard of possibilities for identifying novel disease genes in Mendelian disorders, only about half of which have been elucidated to date. However, interpretation of WES data remains
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49f86be9e71c5bb3335162344ab7a55e
https://www.ncbi.nlm.nih.gov/pubmed/25078397
https://www.ncbi.nlm.nih.gov/pubmed/25078397
Publikováno v:
Human mutation. 32(5)
OMIM's task of cataloging the association between human phenotypes and their causative genes (the Morbid Map of the Genome) and classifying and naming newly recognized disorders is growing rapidly. Establishing the relationship between genotype and p
Autor:
Victor A. McKusick, Peter Li, Peter L. Pearson, Patricia L. Foster, Clair A. Francomano, Carol Bocchini
During the last year many changes have been introduced into the system of maintaining OMIM. There are three major components of the reorganization. First, a distributed editorial system was introduced which provides a three-tiered editorial board wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd02f585f0284b12cfe0738a211a1d29
https://europepmc.org/articles/PMC308304/
https://europepmc.org/articles/PMC308304/