Philip Boone

Philip Boone, MD, PhD, is an Attending Physician in the Division of Genetics and Genomics at Boston Children's Hospital and an Instructor of Pediatrics at Harvard Medical School. He specializes in medical genetics with particular expertise in rare disorders, medical mysteries, deletion and duplication syndromes, and Cornelia de Lange syndrome. Dr. Boone sees patients at Boston Children's Brookline location (2 Brookline Place, 7th Floor) and provides comprehensive genetic care including diagnostics, counseling, and individualized management.

• Stanford University (Undergraduate, 2006)
• Baylor College of Medicine (Graduate & Medical School, 2013-2014)
• Boston Combined Residency Program (Internship & Residency, 2016-2020)
• Harvard Medical School Genetics Training Program (Fellowship, 2020)

Dr. Boone's research focuses on neurodevelopmental disorders, chromatin regulation, and genetic diagnostics. His work spans from fundamental genetic mechanisms to clinical applications, with particular emphasis on cohesinopathies including Cornelia de Lange syndrome. He has contributed significantly to understanding genetic variants associated with growth disorders, developmental features, and structural chromosomal abnormalities. His research combines advanced genomic technologies with clinical insights to improve diagnosis and management of rare genetic conditions.

Analysis of Dr. Boone's publication record reveals a strong focus on medical genetics with emphasis on neurodevelopmental disorders, chromatin regulation, and genetic diagnostics. His work spans basic research on gene function and regulation to clinical applications in rare disease diagnosis. A notable trend is his investigation of cohesin complex disorders, particularly SMC3 variants and their relationship to Cornelia de Lange syndrome. His publications demonstrate expertise in both traditional genetic analysis and cutting-edge genomic technologies including long-read sequencing and telomere-to-telomere assembly.

Dr. Boone actively contributes to medical education through publications on genetic diagnostics and distance learning resources for medical genetics. He has co-authored educational materials that help advance the field's knowledge base and training capabilities.

As an attending physician in the Division of Genetics and Genomics at Boston Children's Hospital and a research fellow in the Center for Genomic Medicine at Massachusetts General Hospital, Dr. Boone works within one of the largest pediatric genetics practices in the country. The division includes over 30 board-certified clinical geneticists, genetic counselors, dieticians, and nursing staff who provide comprehensive care for patients with both common and extremely rare genetic conditions.