Philip F Giampietro (Philip Giampietro)

Publication Activity (10 Years)

Years Active: 2017-2022
Publications (10 Years): 10

Top Topics

Dna Methylation

Top Venues

American journal of medical genetics. Part A

Molecular genetics & genomic medicine

American journal of medical genetics. Part C, Seminars in medical genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Philip F Giampietro, Nancy Hadley-Miller, Cathy L Raggio
Overview of Gene Special Issue "Genetic Conditions Affecting the Skeleton: Congenital, Idiopathic Scoliosis and Arthrogryposis". Genes 13 (7) (2022)
Noemi Dahan-Oliel, Klaus Dieterich, Frank Rauch, Ghalib Bardai, Taylor N Blondell, Anxhela Gjyshi Gustafson, Reggie Hamdy, Xenia Latypova, Kamran Shazand, Philip F Giampietro, Harold J P van Bosse
The Clinical and Genotypic Spectrum of Scoliosis in Multiple Pterygium Syndrome: A Case Series on 12 Children. Genes 12 (8) (2021)
Xenia Latypova, Stefan Giovanni Creadore, Noémi Dahan-Oliel, Anxhela Gjyshi Gustafson, Steven Wei-Hung Hwang, Tanya Bedard, Kamran Shazand, Harold J P van Bosse, Philip F Giampietro, Klaus Dieterich
A Genomic Approach to Delineating the Occurrence of Scoliosis in Arthrogryposis Multiplex Congenita. Genes 12 (7) (2021)
Swati R Chanchani, Hongyan Xie, Gurbax Sekhon, Ana M Melikishvili, Sue Moyer Harasink, Harpreet Pall, Philip F Giampietro
A male infant with Xq22.2q22.3 duplication containing PLP1 and MID2. Molecular genetics & genomic medicine 8 (3) (2020)
Noura Salem AlDhaheri, Nan Wu, Sen Zhao, Zhihong Wu, Robert D Blank, Jianguo Zhang, Cathy Raggio, Matthew Halanski, Jianxiong Shen, Ken Noonan, Guixing Qiu, Blaise Nemeth, Sarah Sund, Sally L Dunwoodie, Gavin Chapman, Ingrid Glurich, Robert D Steiner, Elizabeth Wohler, Renan Martin, Nara Lygia Sobreira, Philip F Giampietro
KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformations. American journal of medical genetics. Part A 182 (7) (2020)
Louise Amlie-Wolf, Sue Moyer-Harasink, Ann-Marie Carr, Philip F Giampietro, Adele Schneider, Mitchell Simon
Three new patients with Steel syndrome and a Puerto Rican specific COL27A1 mutation. American journal of medical genetics. Part A 182 (4) (2020)
Klaus Dieterich, Pauline Le Tanno, Eva Kimber, Pierre-Simon Jouk, Judith Hall, Philip F Giampietro
The diagnostic workup in a patient with AMC: Overview of the clinical evaluation and paraclinical analyses with review of the literature. American journal of medical genetics. Part C, Seminars in medical genetics 181 (3) (2019)
Kara K Reynolds, Jane Juusola, Gregory M Rice, Philip F Giampietro
Prenatal presentation of Mabry syndrome with congenital diaphragmatic hernia and phenotypic overlap with Fryns syndrome. American journal of medical genetics. Part A 173 (10) (2017)
Janet M Legare, Kristin Seaborg, Jennifer Laffin, Philip F Giampietro
Diaphanospondylodysostosis and ischiospinal dysostosis, evidence for one disorder with variable expression in a patient who has survived to age 9 years. American journal of medical genetics. Part A 173 (10) (2017)
Philip F Giampietro, Olivier Pourquie, Cathy Raggio, Shiro Ikegawa, Peter D Turnpenny, Ryan Gray, Sally L Dunwoodie, Christina A Gurnett, Benjamin Alman, Kenneth Cheung, Kenro Kusumi, Nancy Hadley-Miller, Carol A Wise
Summary of the first inaugural joint meeting of the International Consortium for scoliosis genetics and the International Consortium for vertebral anomalies and scoliosis, March 16-18, 2017, Dallas, Texas. American journal of medical genetics. Part A 176 (1) (2017)