Michelle Steinraths
University of British Columbia(CA)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Prenatal Screening and Diagnostics, RNA modifications and cancer, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome(2014)149 cited
- → High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44(2011)146 cited
- → Natural history and genotype‐phenotype correlations in 72 individuals with SATB2‐associated syndrome(2018)73 cited
- → CCMG guidelines: prenatal and postnatal diagnostic testing for uniparental disomy(2010)65 cited
- → Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11(2011)60 cited
- → De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder(2018)48 cited
- → Mosaic embryo transfer—first report of a live born with nonmosaic partial aneuploidy and uniparental disomy 15(2022)28 cited
- → Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study(2022)27 cited
- → Bone health and SATB2‐associated syndrome(2017)25 cited
- → Steroid sulfatase deficiency and contiguous gene deletion syndrome amongst pregnant patients with low serum unconjugated estriols(2009)24 cited