Christina X Gonzalez-Gandolfi

Characterization of the Beckwith‐Wiedemann spectrum: Diagnosis and management

Kelly A. Duffy, Christopher M. Cielo︎, Jennifer L. Cohen et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 2019 · 113 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Diagnosis and management of the phenotypic spectrum of twins with Beckwith‐Wiedemann syndrome

Jennifer L. Cohen, Kelly A. Duffy, Brian J Sajorda et al. · American Journal of Medical Genetics Part A · 2019 · 23 citations · Full text

Life Sciences, Genetics, Obstetrics +14

Hyperinsulinemic hypoglycemia in seven patients with de novo <i>NSD1</i> mutations

Katheryn Grand, Christina X Gonzalez-Gandolfi, Amanda M. Ackermann et al. · American Journal of Medical Genetics Part A · 2019 · 20 citations

Life Sciences, Endocrinology, Genetics +17

Simpson-Golabi-Behmel Syndrome Type 1

Brian J Sajorda, Christina X Gonzalez-Gandolfi, Evan R. Hathaway et al. · Europe PMC (PubMed Central) · 2018 · 16 citations

Medicine, Oncology, Molecular Pathology +16