Elizabeth Roeder
Baylor College of Medicine(US)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, RNA modifications and cancer, Congenital heart defects research
Most-Cited Works
- → Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities(2008)628 cited
- → Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size(2009)595 cited
- → Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired(1998)521 cited
- → Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features(2003)344 cited
- → Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes(2008)222 cited
- → Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly(2017)217 cited
- → Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants(2018)214 cited
- → Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins(2016)168 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
- → Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12(2009)145 cited