Philip Michael Boone MD
Clinical Biochemical Genetics, Clinical Genetics
Physician
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300 Longwood AveBoston, MA 02115
Phone+1 617-355-6394
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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 2020 - 2027
American Board of Pediatrics Pediatrics
American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Publications & Presentations
PubMed
- X-linked competition - implications for human development and disease.Philip M Boone, Teresa Buenaventura, James W D King, Matthias Merkenschlager
Nature Reviews. Genetics. 2025-08-01 - KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndrome.Amber S E van Oirsouw, Michael A Hadders, Martijn Koetsier, Edith D J Peters, Nurit Assia Batzir
Human Molecular Genetics. 2025-05-27 - 2 citationsResolution 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
Grant Support
- Defining the Disorders of Genome OrganizationMASSACHUSETTS GENERAL HOSPITAL2020–2025
- Defining the Disorders of Genome OrganizationMASSACHUSETTS GENERAL HOSPITAL2020–2025
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