Tatiana Tvrdik

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 · 145 citations · Full text

Epileptic Encephalopathy, Neurobiology Of Disease, Pathogenesis +10

Genetic counselor review of genetic test orders in a reference laboratory reduces unnecessary testing

Christine E. Miller, Patti Krautscheid, Erin E. Baldwin et al. · American Journal of Medical Genetics Part A · 2014 · 144 citations

Genetic Testing, Genetics, Genetic Epidemiology +20

Effective variant filtering and expected candidate variant yield in studies of rare human disease

Brent S. Pedersen, Joe Brown, Harriet Dashnow et al. · npj Genomic Medicine · 2021 · 121 citations · Full text

A comparative study of the expression patterns for vegf, vegf-b/vrf and vegf-c in the developing and adult mouse

Jacob Lagercrantz, Filip Farnebo, Catharina Larsson et al. · Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression · 1998 · 93 citations

Developmental Biology, Growth Hormone, Medicine +10

An evaluation of styrene genotoxicity using several biomarkers in a 3-year follow-up study of hand-lamination workers

Pavel Vodička, Tatiana Tvrdik, Siv Osterman-Golkar et al. · Mutation Research/Genetic Toxicology and Environmental Mutagenesis · 1999 · 79 citations

Hand-lamination Workers, Several Biomarkers, Chemical Hazard +8