Catherine Armstrong

HLA polymorphism in the Havasupai: evidence for balancing selection.

Therese A. Markow, Philip W. Hedrick, Kevin Zuerlein et al. · PubMed · 1993 · 99 citations

Life Sciences, Genetics, Molecular Genetics +11

Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism

Adam C. Gunning, Klaudia Strucinska, Mikel Muñoz Oreja et al. · The American Journal of Human Genetics · 2020 · 51 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Evidence for genetic heterogeneity in families with congenital motor nystagmus (CN)

William S. Oetting, Catherine Armstrong, Ann M. Holleschau et al. · Ophthalmic Genetics · 2000 · 20 citations

Life Sciences, Genetics, Neurology +15

Biallelic variants in <scp> <i>PPP1R13L</i> </scp> cause paediatric dilated cardiomyopathy

Hannah K. Robinson, E. V. Zaklyazminskaya, Inna Povolotskaya et al. · Clinical Genetics · 2020 · 17 citations · Full text

Medicine, Cardiology, Genetics +17

Expanding <scp><i>ACTA2</i></scp> genotypes with corresponding phenotypes overlapping with smooth muscle dysfunction syndrome

Anita Kaw, Kaveeta Kaw, Ellen M. Hostetler et al. · American Journal of Medical Genetics Part A · 2022 · 17 citations · Full text

Medicine, Genetics, Molecular Genetics +17