Heidi Thiese
Kaiser Permanente(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Congenital heart defects research, Genetics and Neurodevelopmental Disorders, BRCA gene mutations in cancer
Most-Cited Works
- → A copy number variation morbidity map of developmental delay(2011)1,390 cited
- → Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants(2012)626 cited
- → Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance(2014)148 cited
- → Genotype–phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations(2009)85 cited
- → Phenotypic and molecular characterization of 19q12q13.1 deletions: A report of five patients(2013)62 cited
- → DLG4-related synaptopathy: a new rare brain disorder(2021)49 cited
- → Clinical and molecular characterization of individuals with recurrent genomic disorder at 10q22.3q23.2(2010)26 cited
- → Building a family network from genetic testing(2016)7 cited
- → Corrigendum: A copy number variation morbidity map of developmental delay(2014)7 cited
- → The Reckoning: The Return of Genomic Results to 1444 Participants Across the eMERGE3 Network(2022)1 cited