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Office
300 Longwood Ave
Boston, MA 02115Phone+1 617-355-6394
Summary
- Dr. Philip Boone is a medical geneticist in Boston, MA and is affiliated with Boston Children's Hospital. He received his medical degree from Baylor College of Medicine and has been in practice 3 years. He specializes in clinical biochemical genetics and clinical genetics. He has more than 30 publications and over 500 citings.
Education & Training
- Baylor College of MedicineClass of 2014
Certifications & Licensure
- MA State Medical License 2015 - 2025
- American Board of Pediatrics Pediatrics
- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Publications & Presentations
PubMed
- Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly.Yulia Mostovoy, Philip M Boone, Yongqing Huang, Kiran V Garimella, Kar-Tong Tan
American Journal of Human Genetics. 2024-12-05 - Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes.Courtney E French, Nancy C Andrews, Alan H Beggs, Philip M Boone, Catherine A Brownstein
NPJ Genomic Medicine. 2024-12-02 - 1 citationsHeterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features.Morad Ansari, Kamli N W Faour, Akiko Shimamura, Graeme Grimes, Emeline M Kao
HGG Advances. 2024-04-11
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