Publications by authors named "Katherine Josephs"

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Dilated cardiomyopathy in the young: a patient-scientist informed review of unmet needs.
Emma R Jennings, Rachel Mackay, Catherine Renwick, Katherine S Josephs, Rachel J Buchan

Cardiol Young· February 2025

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Genes Associated With Hypertrophic Cardiomyopathy: A Reappraisal by the ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel.
Sophie Hespe, Amber Waddell, Babken Asatryan, Emma Owens, Courtney Thaxton, Katherine Josephs

J Am Coll Cardiol· February 2025

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Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.
Katherine S Josephs, Eleanor G Seaby, Philippa May, Pantazis Theotokis, Jing Yu

Genome Med· October 2024

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ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel: Reappraisal of Genes associated with Hypertrophic Cardiomyopathy.
Sophie Hespe, Amber Waddell, Babken Asatryan, Emma Owens, Courtney Thaxton, Katherine Josephs

medRxiv· July 2024

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Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms.
Angharad M Roberts, Marina T DiStefano, Erin Rooney Riggs, Katherine S Josephs, Fowzan S Alkuraya

Genet Med· February 2024

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Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.
Katherine S Josephs, Angharad M Roberts, Pantazis Theotokis, Roddy Walsh, Philip J Ostrowski

Genome Med· October 2023

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Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms.
Angharad M Roberts, Marina T DiStefano, Erin Rooney Riggs, Katherine S Josephs, Fowzan S Alkuraya

medRxiv· April 2023

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Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.
Katherine S Josephs, Angharad M Roberts, Pantazis Theotokis, Roddy Walsh, Philip J Ostrowski

medRxiv· April 2023

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Redefining WILD syndrome: a primary lymphatic dysplasia with congenital multisegmental lymphoedema, cutaneous lymphovascular malformation, CD4 lymphopaenia and warts.
Sahar Mansour, Katherine S Josephs, Pia Ostergaard, Kristiana Gordon, Malou Van Zanten

J Med Genet· January 2023

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Results from London Regional Clinical Genetics services over a 5-year period on germline testing in women diagnosed with breast cancer at <30 years.
Alice Garrett, Sabrina Talukdar, Louise Izatt, Angela F Brady, Sinead Whyte, Katherine S Josephs

J Med Genet· June 2022

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Correspondence on "ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)" by Miller et al.
Kathryn A McGurk, Sean L Zheng, Albert Henry, Katherine Josephs, Matthew Edwards

Genet Med· March 2022

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Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes.
Silvia Martin-Almedina, Kazim Ogmen, Ege Sackey, Dionysios Grigoriadis, Christina Karapouliou, Katherine S Josephs

Genet Med· July 2021

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Correction: Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes.
Silvia Martin-Almedina, Kazim Ogmen, Ege Sackey, Dionysios Grigoriadis, Christina Karapouliou, Katherine S Josephs

Genet Med· July 2021

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Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome.
Viviana Cordeddu, Erica L Macke, Francesca Clementina Radio, Stefania Lo Cicero, Francesca Pantaleoni, Katherine S Josephs

Clin Genet· August 2020

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Non-catalytic Roles of Tet2 Are Essential to Regulate Hematopoietic Stem and Progenitor Cell Homeostasis.
Kyoko Ito, Joun Lee, Stephanie Chrysanthou, Yilin Zhao, Katherine Josephs

Cell Rep· September 2019

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Genomics: the power, potential and pitfalls of the new technologies and how they are transforming healthcare.
Katherine S Josephs, Alison Berner, Angela George, Richard H Scott,

Clin Med (Lond)· July 2019

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p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer.
Chey Loveday, Katherine Josephs, Daniel Chubb, Adam Gunning, Louise Izatt

J Clin Endocrinol Metab· November 2018

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Compound heterozygous CASQ2 mutations and long-term course of catecholaminergic polymorphic ventricular tachycardia.
Katherine Josephs, Kunjan Patel, Christopher M Janson, Cristina Montagna, Thomas V McDonald

Mol Genet Genomic Med· November 2017

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Maternal and neonatal outcomes of successful Kielland's rotational forceps delivery.
Sarah J Stock, Katherine Josephs, Sarah Farquharson, Corinne Love, Sarah E Cooper

Obstet Gynecol· May 2013

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Incidence and predictors of acute mountain sickness among trekkers on Mount Kilimanjaro.
Stewart J Jackson, James Varley, Claudia Sellers, Katherine Josephs, Lucy Codrington

High Alt Med Biol· January 2011

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