Katherine S Josephs

4PUBLICATIONS
36CO-AUTHORS
Cardiology (incl. cardiovascular diseases)Gene expression (incl. microarray and other genome-wide approaches)Cardiovascular medicine and haematology not elsewhere classifiedHaematology
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Publications (4)

|Aug 12, 2024
ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel: Reappraisal of Genes associated with Hypertrophic Cardiomyopathy.

Sophie Hespe, Amber Waddell, Babken Asatryan

|Oct 23, 2023
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

|May 27, 2021
Correction: Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes.

Silvia Martin-Almedina, Kazim Ogmen, Ege Sackey

|Apr 17, 2021
Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes.

Silvia Martin-Almedina, Kazim Ogmen, Ege Sackey

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Frequent Collaborators

2 joint publications

Dionysios Grigoriadis

2 joint publications

Alexandra Robinson

2 joint publications

Jenny Lord

2 joint publications

Christina Karapouliou