Josephs, K. S., Roberts, A. M., Theotokis, P., Walsh, R., Ostrowski, P. J., Edwards, M., … Ware, J. S. (2023). Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions. Cold Spring Harbor Laboratory. https://doi.org/10.1101/2023.04.03.23287612

Josephs, Katherine S., Angharad M. Roberts, Pantazis Theotokis, Roddy Walsh, Philip J. Ostrowski, Matthew Edwards, Andrew Fleming, et al. “Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.” Cold Spring Harbor Laboratory, April 3, 2023. https://doi.org/10.1101/2023.04.03.23287612.

Josephs KS, Roberts AM, Theotokis P, Walsh R, Ostrowski PJ, Edwards M, et al. Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions. Cold Spring Harbor Laboratory. 2023.

Josephs, Katherine S., et al. “Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.” Cold Spring Harbor Laboratory, 3 Apr. 2023. Crossref, doi:10.1101/2023.04.03.23287612.

Josephs KS, Roberts AM, Theotokis P, Walsh R, Ostrowski PJ, Edwards M, Fleming A, Thaxton C, Roberts JD, Care M, Zareba W, Adler A, Sturm AC, Tadros R, Novelli V, Owens E, Bronicki L, Jarinova O, Callewaert B, Peters S, Lumbers T, Jordan E, Asatryan B, Krishnan N, Hershberger RE, Chahal CAA, Landstrom AP, James C, McNally EM, Judge DP, van Tintelen P, Wilde A, Gollob M, Ingles J, Ware JS. Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions. Cold Spring Harbor Laboratory. 2023.