Jennifer J Johnston

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2016-2023
Publications (10 Years): 5

Top Venues

Human molecular genetics

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

Journal of medical genetics

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

Publications

Henoke K Shiferaw, Celine S Hong, David Cooper, Jennifer J Johnston, null null, Barbara B Biesecker
Genome-wide identification of dominant polyadenylation hexamers for use in variant classification. Human molecular genetics (2023)
Jennifer J Johnston, Robert T Dirksen, Thierry Girard, Phil M Hopkins, Natalia Kraeva, Mungunsukh Ognoon, K Bailey Radenbaugh, Sheila Riazi, Rachel L Robinson, Louis A Saddic Iii, Nyamkhishig Sambuughin, Richa Saxena, Sarah Shepherd, Kathryn Stowell, James Weber, Seeley Yoo, Henry Rosenberg, Barbara B Biesecker
Updated variant curation expert panel criteria and pathogenicity classifications for 251 variants for RYR1-related malignant hyperthermia susceptibility. Human molecular genetics 31 (23) (2022)
Jennifer J Johnston, Robert T Dirksen, Thierry Girard, Stephen G Gonsalves, Philip M Hopkins, Sheila Riazi, Louis A Saddic, Nyamkhishig Sambuughin, Richa Saxena, Kathryn Stowell, James Weber, Henry Rosenberg, Leslie G Biesecker
Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility. Genetics in medicine : official journal of the American College of Medical Genetics 23 (7) (2021)
Jennifer J Johnston, Kathleen A Williamson, Christopher M Chou, Julie C Sapp, Morad Ansari, Heather M Chapman, David N Cooper, Tabib Dabir, Jeffrey N Dudley, Richard J Holt, Nicola K Ragge, Alejandro A Schäffer, Shurjo K Sen, Anne M Slavotinek, David R FitzPatrick, Thomas M Glaser, Fiona Stewart, Graeme Cm Black, Leslie G Biesecker
NAA10 polyadenylation signal variants cause syndromic microphthalmia. Journal of medical genetics 56 (7) (2019)
David Ng, Celine S Hong, Larry N Singh, Jennifer J Johnston, May Christine V Malicdan, Leslie G Biesecker
Assessing the capability of massively parallel sequencing for opportunistic pharmacogenetic screening. Genetics in medicine : official journal of the American College of Medical Genetics 19 (3) (2016)

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Publication Activity (10 Years)

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Jennifer J Johnston