Michelle Steinraths

De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

Ghayda Mirzaa, David Parry, Andrew E. Fry et al. · Nature Genetics · 2014 · 148 citations · Full text

Disease Mechanism, Genetic Disorder, Pathogenesis +5

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

Blake C. Ballif, Jill A. Rosenfeld, Ryan N. Traylor et al. · Human Genetics · 2011 · 145 citations

Candidate Genes, High-resolution Array Cgh, Neurobiology Of Disease +10

Natural history and genotype‐phenotype correlations in 72 individuals with <i>SATB2</i>‐associated syndrome

Yuri A. Zárate, Constance Smith‐Hicks, Carol L. Greene et al. · American Journal of Medical Genetics Part A · 2018 · 73 citations

CCMG guidelines: prenatal and postnatal diagnostic testing for uniparental disomy

AJ Dawson, Judy Chernos, Jean McGowan‐Jordan et al. · Clinical Genetics · 2010 · 65 citations

Genetic Testing, Fertility, Genetics +23

Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11

Christian Wentzel, Evica Rajcan‐Separovic, Claudia Ruivenkamp et al. · European Journal of Human Genetics · 2011 · 60 citations · Full text

Interstitial Deletions, Medicine, Genetics +8