Kate Shane-Carson

Identification of a Recurrent Microdeletion at 17q23.1q23.2 Flanked by Segmental Duplications Associated with Heart Defects and Limb Abnormalities

Blake C. Ballif, Aaron Theisen, Jill A. Rosenfeld et al. · The American Journal of Human Genetics · 2010 · 169 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency

Nils Krone, Nicole Reisch, Jan Idkowiak et al. · The Journal of Clinical Endocrinology & Metabolism · 2011 · 166 citations · Full text

Life Sciences, Endocrinology, Genetics +17

Infantile Spasms Is Associated with Deletion of the MAGI2 Gene on Chromosome 7q11.23-q21.11

Christian R. Marshall, Edwin J. Young, Ariel M. Pani et al. · The American Journal of Human Genetics · 2008 · 123 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Germline <i>EGFR</i> Mutations and Familial Lung Cancer

Geoffrey R. Oxnard, Ruthia Chen, Jennifer C. Pharr et al. · Journal of Clinical Oncology · 2023 · 57 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Call for improvement in medical school training in genetics: results of a national survey

Richard L. Haspel, Jonathan R. Genzen, Jay Wagner et al. · Genetics in Medicine · 2021 · 39 citations · Full text

Life Sciences, Genetics, Medical Education +8