Katy Phelan

The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome)

Katy Phelan, Heather E. McDermid · Molecular Syndromology · 2011 · 476 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Claire Redin, Harrison Brand, Ryan L. Collins et al. · Nature Genetics · 2016 · 354 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Clinical and genomic evaluation of 201 patients with Phelan–McDermid syndrome

Sara M. Sarasua, Luigi Boccuto, Julia L. Sharp et al. · Human Genetics · 2014 · 195 citations

Life Sciences, Genetics, Molecular Genetics +14

Basic Techniques in Mammalian Cell Tissue Culture

Katy Phelan, Kristin M. May · Current Protocols in Cell Biology · 2015 · 151 citations

Life Sciences, Cell Biology, Cultures +16

Association between deletion size and important phenotypes expands the genomic region of interest in Phelan–McDermid syndrome (22q13 deletion syndrome)

Sara M. Sarasua, Alka Dwivedi, Luigi Boccuto et al. · Journal of Medical Genetics · 2011 · 143 citations

Life Sciences, Genetics, Molecular Genetics +17