Katherine S Josephs (Katherine Josephs)

Publication Activity (10 Years)

Years Active: 2021-2024
Publications (10 Years): 6

Top Topics

Hypertrophic Cardiomyopathy

Intellectual Disability

Dna Methylation

Cardiovascular Risk Factors

Top Venues

medRxiv : the preprint server for health sciences

Genome medicine

Genetics in medicine : official journal of the American College of Medical Genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Sophie Hespe, Amber Waddell, Babken Asatryan, Emma Owens, Courtney L Thaxton, Mhy-Lanie Adduru, Kailyn Anderson, Emily E Brown, Lily Hoffman-Andrews, Elizabeth S Jordan, Katherine S Josephs, Megan Mayers, Stacey Peters, Fergus Stafford, Richard Douglas Bagnall, Lucas Bronicki, Bert Callewaert, C Anwar A Chahal, Cynthia A James, Olga Jarinova, Andrew P Landstrom, Elizabeth M McNally, Brittney Murray, Laura Muiño Mosquera, Victoria N Parikh, Nicolette Chun, Roddy Walsh, Bess Wayburn, James Simon Ware, Jodie Ingles
ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel: Reappraisal of Genes associated with Hypertrophic Cardiomyopathy. medRxiv : the preprint server for health sciences (2024)
Sophie Hespe, Amber Waddell, Babken Asatryan, Emma Owens, Courtney L Thaxton, Mhy-Lanie Adduru, Kailyn Anderson, Emily Brown, Lily Hoffman-Andrews, Elizabeth S Jordan, Katherine S Josephs, Megan Mayers, Stacey Peters, Fergus Stafford, Richard Douglas Bagnall, Lucas Bronicki, Bert Callewaert, C Anwar Chahal, Cynthia A James, Olga Jarinova, Andrew P Landstrom, Elizabeth M McNally, Brittney Murray, Laura Muiño Mosquera, Victoria N Parikh, Nicolette Chun, Roddy Walsh, Bess Wayburn, James Simon Ware, Jodie Ingles
ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel: Reappraisal of Genes associated with Hypertrophic Cardiomyopathy. medRxiv : the preprint server for health sciences (2024)
Sophie Hespe, Amber Waddell, Babken Asatryan, Emma Owens, Courtney L Thaxton, Mhy-Lanie Adduru, Kailyn Anderson, Emily Brown, Lily Hoffman-Andrews, Elizabeth S Jordan, Katherine S Josephs, Megan Mayers, Stacey Peters, Fergus Stafford, Richard Douglas Bagnall, Lucas Bronicki, Bert Callewaert, C Anwar Chahal, Cynthia A James, Olga Jarinova, Andrew P Landstrom, Elizabeth M McNally, Brittney Murray, Laura Muiño Mosquera, Victoria N Parikh, Nicolette Chun, Roddy Walsh, Bess Wayburn, James Simon Ware, Jodie Ingles
ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel: Reappraisal of Genes associated with Hypertrophic Cardiomyopathy. medRxiv : the preprint server for health sciences (2024)
Katherine S Josephs, Angharad M Roberts, Pantazis Theotokis, Roddy Walsh, Philip J Ostrowski, Matthew Edwards, Andrew Fleming, Courtney Thaxton, Jason D Roberts, Melanie Care, Wojciech Zareba, Arnon Adler, Amy C Sturm, Rafik Tadros, Valeria Novelli, Emma Owens, Lucas Bronicki, Olga Jarinova, Bert Callewaert, Stacey Peters, Tom Lumbers, Elizabeth Jordan, Babken Asatryan, Neesha Krishnan, Ray E Hershberger, C Anwar A Chahal, Andrew P Landstrom, Cynthia James, Elizabeth M McNally, Daniel P Judge, Peter van Tintelen, Arthur Wilde, Michael Gollob, Jodie Ingles, James S Ware
Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions. Genome medicine 15 (1) (2023)
Katherine S Josephs, Angharad M Roberts, Pantazis Theotokis, Roddy Walsh, Philip J Ostrowski, Matthew Edwards, Andrew Fleming, Courtney Thaxton, Jason D Roberts, Melanie Care, Wojciech Zareba, Arnon Adler, Amy C Sturm, Rafik Tadros, Valeria Novelli, Emma Owens, Lucas Bronicki, Olga Jarinova, Bert Callewaert, Stacey Peters, Tom Lumbers, Elizabeth Jordan, Babken Asatryan, Neesha Krishnan, Ray E Hershberger, C Anwar A Chahal, Andrew P Landstrom, Cynthia James, Elizabeth M McNally, Daniel P Judge, Peter van Tintelen, Arthur Wilde, Michael Gollob, Jodie Ingles, James S Ware
Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions. medRxiv : the preprint server for health sciences (2023)
Silvia Martin-Almedina, Kazim Ogmen, Ege Ozkan, Dionysios Grigoriadis, Christina Karapouliou, Noeline Nadarajah, Cathrine Ebbing, Jenny Lord, Rhiannon Mellis, Fanny Kortuem, Mary Beth Dinulos, Cassandra Polun, Sherri Bale, Giles Atton, Alexandra Robinson, Hallvard Reigstad, Gunnar Houge, Axel von der Wense, Wolf-Henning Becker, Steve Jeffery, Peter S Mortimer, Kristiana Gordon, Katherine S Josephs, Sarah Robart, Mark David Kilby, Stephanie Vallee, Jerome L Gorski, Maja Hempel, Siren Berland, Shehla Mohammed, Pia Ostergaard
Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes. Genetics in medicine : official journal of the American College of Medical Genetics 23 (7) (2021)