Sulagna C. Saitta

The DNA sequence of human chromosome 22

Ian Dunham, Adrienne Hunt, John Collins et al. · Nature · 1999 · 1.2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

The core <i>FOXG1</i> syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

Fanny Kortüm, Soma Das, M. Flindt et al. · Journal of Medical Genetics · 2011 · 247 citations

Life Sciences, Genetics, Molecular Genetics +17

Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing

Elaine Chen, Flavia M. Facio, Kerry Aradhya et al. · JAMA Network Open · 2023 · 217 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

Ghayda Mirzaa, Andrew E. Timms, Valerio Conti et al. · JCI Insight · 2016 · 190 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mouse and human phenotypes indicate a critical conserved role for ERK2 signaling in neural crest development

Jason M. Newbern, Jian Zhong, Rasika S. Wickramasinghe et al. · Proceedings of the National Academy of Sciences · 2008 · 177 citations · Full text

Life Sciences, Developmental Biology, Genetics +16