Philip F. Giampietro

MECP2 duplication: Possible cause of severe phenotype in females

P. Giampietro, G. Raca, M. Friez, 2014, American journal of medical genetics. Part A.

The Incidence of Protrusio Acetabuli in Marfan's Syndrome and Its Relationship to Bone Mineral Density

P. Giampietro, O. Boachie-Adjei, S. Burke, 2000, Journal of pediatric orthopedics.

Marfan syndrome patient experiences as ascertained through postings on social media sites

P. Giampietro, M. Moreno, Erin F Kelleher, 2015, American Journal of Medical Genetics. Part A.

Novel mutation in TP63 associated with ectrodactyly ectodermal dysplasia and clefting syndrome and T cell lymphopenia

P. Giampietro, C. Seroogy, Julie R. Jones, 2013, American journal of medical genetics. Part A.

PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects

J. Lupski, T. Scott, F. High, 2023, The American Journal of Human Genetics.