PhilipFGiampietroMD

PubMed

• The potential impact of implementation of expanded carrier screening on pediatric patient diagnoses: A retrospective chart review of patients who receive care in an ou...
  Kelly Roche, Shama P Khan, Christina Botti, Philip Giampietro, Sharon Anderson, Elena Ashkinadze> ;Journal of Genetic Counseling. 2023 Oct 25
• PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects.
  Florence Petit, Mauro Longoni, Julie Wells, Richard S Maser, Eric L Bogenschutz, Matthew J Dysart, Hannah T M Contreras, Frederic Frénois, Barbara R Pober, Robin D Cla...> ;American Journal of Human Genetics. 2023 Oct 5
• 1 citations
  COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis.
  Denise Rebello, Elizabeth Wohler, Vida Erfani, Guozhuang Li, Alexya N Aguilera, Alberto Santiago-Cornier, Sen Zhao, Steven W Hwang, Robert D Steiner, Terry Jianguo Zha...> ;Human Molecular Genetics. 2023 Sep 16
• TBX6 as a cause of a combined skeletal-kidney dysplasia syndrome.
  Guozhuang Li, Alanna Strong, Haojun Wang, Ji-Sun Kim, Deborah Watson, Sen Zhao, Courtney Vaccaro, Erum Hartung, Hakon Hakonarson, Terry Jianguo Zhang, Philip F Giampie...> ;American Journal of Medical Genetics. Part A. 2022 Dec 1
• 50 Years Ago in TheJournalofPediatrics: Genetic Etiology of Syndromic Congenital Hearing Loss.
  Mark D Orland, Philip F Giampietro> ;The Journal of Pediatrics. 2022 Jun 1
• 50 Years Ago in TheJournalofPediatrics: Genetic Contributions to Psychiatric Illness.
  Philip F Giampietro> ;The Journal of Pediatrics. 2022 Jan 1
• 1 citations
  50 Years Ago in TheJournalofPediatrics: Unique X-Linked Mutation Associated with Female-Specific Epilepsy and Intellectual Disability.
  Mark D Orland, Philip F Giampietro> ;The Journal of Pediatrics. 2021 Nov 1
• 50 Years Ago in TheJournal ofPediatrics: Distinguishing Marfan Syndrome and Related Connective Tissue Disorders.
  Allison M Giuffre, Philip F Giampietro> ;The Journal of Pediatrics. 2021 Oct 1
• Response to Hamosh et al.
  Leslie G. Biesecker, Margaret P. Adam, Fowzan S. Alkuraya, Anne Amemiya, Michael J. Bamshad, Anita E. Beck, James T. Bennett, Lynne M. Bird, John C. Carey, Brian H.Y. ...> ;American Journal of Human Genetics. 2021 Sep 2
• 2 citations
  TLE4 Is a Critical Mediator of Osteoblast and Runx2-Dependent Bone Development.
  Thomas H. Shin, Evangelos Theodorou, Carl Holland, Rae’e Yamin, Cathleen L. Raggio, Philip F Giampietro, David A. Sweetser> ;Frontiers in Cell and Developmental Biology. 2021 Aug 6
• 3 citations
  The Clinical and Genotypic Spectrum of Scoliosis in Multiple Pterygium Syndrome: A Case Series on 12 Children.
  Noémi Dahan-Oliel, Klaus Dieterich, Frank Rauch, Ghalib Bardai, Taylor N. Blondell, Anxhela Gjyshi Gustafson, Reggie C. Hamdy, Xenia Latypova, Kamran Shazand, Philip F...> ;Genes. 2021 Aug 6
• 50 Years Ago in TheJournalofPediatrics: Cataracts, Microcephaly, and Arthrogryposis.
  Philip F Giampietro> ;The Journal of Pediatrics. 2021 Aug 1
• 3 citations
  A Genomic Approach to Delineating the Occurrence of Scoliosis in Arthrogryposis Multiplex Congenita
  Xenia Latypova, Stefan Giovanni Creadore, Noémi Dahan-Oliel, Anxhela Gjyshi Gustafson, Steven W. Hwang, Tanya Bedard, Kamran Shazand, Harold J.P. van Bosse, Philip F G...> ;Genes. 2021 Jul 8
• 50 Years Ago in THEJournal ofPediatrics: Endocrine Abnormalities in Fanconi Anemia.
  Philip F Giampietro> ;The Journal of Pediatrics. 2021 Jul 1
• 50 Years Ago in TheJournalofPediatrics: Dissecting Down Microform Cleft Lip.
  Philip F Giampietro> ;The Journal of Pediatrics. 2021 May 1
• 50 Years Ago in TheJournalofPediatrics: Familial Russell-Silver Syndrome.
  Philip F Giampietro> ;The Journal of Pediatrics. 2021 Apr 1
• 1 citations
  50 Years Ago in TheJournalofPediatrics: Understanding the Molecular Basis of 11p13 Deletion.
  Philip F Giampietro> ;The Journal of Pediatrics. 2021 Mar 1
• 1 citations
  50 Years Ago in TheJournalofPediatrics: 50 Years Ago Today: The Expanding Phenotype of Larsen Syndrome.
  Philip F Giampietro> ;The Journal of Pediatrics. 2021 Feb 1
• 13 citations
  Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice.
  Ella M M A Martin, Annabelle Enriquez, Duncan B. Sparrow, David T. Humphreys, Aideen M. McInerney-Leo, Paul Leo, Emma L. Duncan, Kavitha R Iyer, Joelene A Greasby, Edd...> ;Human Molecular Genetics. 2021 Jan 21
• 63 citations
  A dyadic approach to the delineation of diagnostic entities in clinical genomics.
  Leslie G. Biesecker, Margaret P. Adam, Fowzan S. Alkuraya, Anne Amemiya, Michael J. Bamshad, Anita E. Beck, James T. Bennett, Lynne M. Bird, John C. Carey, Brian H.Y. ...> ;American Journal of Human Genetics. 2021 Jan 7
• 50 Years Ago in TheJournalofPediatrics: An Update on the Phenotypic Map of 18q Deletions.
  Philip F Giampietro> ;The Journal of Pediatrics. 2021 Jan 1
• 4 citations
  Social Media Use Among Young Adults With Connective Tissue Disorders: Cross-Sectional Pilot Study.
  Erin S. Kelleher, Philip F Giampietro, Megan A. Moreno> ;JMIR Pediatrics and Parenting. 2020 Oct 30
• 50 Years Ago in The Journal of Pediatrics: Tolubtamide-Mediated Dysregulation of Apoptosis.
  Philip F Giampietro> ;The Journal of Pediatrics. 2020 Sep 1
• 50 Years Ago in TheJournalofPediatrics: Clinical and Genetic Delineation of Saethre-Chotzen Syndrome.
  Philip F Giampietro> ;The Journal of Pediatrics. 2020 Aug 1
• 50 Years Ago in
  Philip F. Giampietro> ;The Journal of Pediatrics. 2020 Jul 1
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