Susie Ball

Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

Santhosh Girirajan, Jill A. Rosenfeld, Bradley P. Coe et al. · New England Journal of Medicine · 2012 · 634 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Further clinical and molecular delineation of the 15q24 microdeletion syndrome

Heather C. Mefford, Jill A. Rosenfeld, Natasha Shur et al. · Journal of Medical Genetics · 2011 · 93 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Disruptive variants of <i>CSDE1</i> associate with autism and interfere with neuronal development and synaptic transmission

Hui Guo, Ying Li, Lu Shen et al. · Science Advances · 2019 · 48 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Mother to son transmission of del(1) (q42.1q42.3)

Julie A. Sanford Hanna, Susie Ball, Roberta A Pagon et al. · American Journal of Medical Genetics · 2000 · 43 citations

Life Sciences, Genetics, Molecular Genetics +14

Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1

Aaron Theisen, Jill A. Rosenfeld, Kim L. McBride et al. · Molecular Syndromology · 2010 · 17 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17