Kari Casas

Missense Mutation in Pseudouridine Synthase 1 (PUS1) Causes Mitochondrial Myopathy and Sideroblastic Anemia (MLASA)

Yelena Bykhovskaya, Kari Casas, Emebet Mengesha et al. · The American Journal of Human Genetics · 2004 · 314 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

Katherine L. Helbig, Robert J. Lauerer, Jacqueline C Bahr et al. · The American Journal of Human Genetics · 2018 · 153 citations · Full text

Medicine, Genetics, Molecular Genetics +15

Chromosome 2q terminal deletion: Report of 6 new patients and review of phenotype‐breakpoint correlations in 66 individuals

Kari Casas, Tarja Mononen, Claudia N. Mikail et al. · American Journal of Medical Genetics Part A · 2004 · 95 citations

Life Sciences, Genetics, Molecular Genetics +12

Mitochondrial Myopathy, Sideroblastic Anemia, and Lactic Acidosis: An Autosomal Recessive Syndrome in Persian Jews Caused by a Mutation in the PUS1 Gene

Avraham Zeharia, Nathan Fischel‐Ghodsian, Kari Casas et al. · Journal of Child Neurology · 2005 · 78 citations

Life Sciences, Genetics, Molecular Genetics +17

Mitochondrial myopathy and sideroblastic anemia

Kari Casas, Nathan Fischel‐Ghodsian · American Journal of Medical Genetics Part A · 2003 · 41 citations

Life Sciences, Genetics, Molecular Genetics +17