Klaas J Wierenga (Klaas Wierenga)

Years Active: 2018-2022
Publications (10 Years): 4

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

Publications

Erica L Macke, Joel A Morales-Rosado, Sarah K Macklin-Mantia, Christopher T Schmitz, Björn Oskarsson, Eric W Klee, Klaas J Wierenga
Functional validation of a novel AAAS variant in an atypical presentation of Allgrove syndrome. Molecular genetics & genomic medicine 10 (7) (2022)
P Y Billie Au, Caitlin Goedhart, Marcia Ferguson, Jeroen Breckpot, Koenraad Devriendt, Klaas J Wierenga, Elizabeth Fanning, Dorothy K Grange, Gail E Graham, Carolina Galarreta, Marilyn C Jones, Usha Kini, Helen Stewart, Jillian S Parboosingh, Antonie D Kline, A Micheil Innes, null null
Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature. European journal of human genetics : EJHG 26 (9) (2018)
Aamina Shakir, Alexandrea F Wadley, Gabriela Purcarin, Klaas J Wierenga
The first case of deafness-dystonia syndrome due to compound heterozygous variants in FITM2. Clinical case reports 6 (9) (2018)
Svein Isungset Støve, Marina Blenski, Asbjørg Stray-Pedersen, Klaas J Wierenga, Shalini N Jhangiani, Zeynep Coban Akdemir, David Crawford, Nina McTiernan, Line M Myklebust, Gabriela Purcarin, Rene McNall-Knapp, Alexandrea Wadley, John W Belmont, Jeffrey J Kim, James R Lupski, Thomas Arnesen
A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy. European journal of human genetics : EJHG 26 (9) (2018)

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