Philip Boone, MD, PhD
Attending Physician, Division of Genetics and Genomics
Instructor of Pediatrics, Harvard Medical School
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Philip Boone, MD, PhD
Attending Physician, Division of Genetics and Genomics
Instructor of Pediatrics, Harvard Medical School
Medical Services
Languages
English
Education
Undergraduate School
Stanford University
2006
Stanford
CA
Graduate School
Baylor College of Medicine
2013
Houston
TX
Medical School
Baylor College of Medicine
2014
Houston
TX
Internship
Boston Combined Residency Program (BCRP)
2016
Boston
MA
Residency
Boston Combined Residency Program (BCRP)
2020
Boston
MA
Fellowship
Medical Genetics
Harvard Medical School Genetics Training Program
2020
Boston
MA
Certifications
American Board of Medical Genetics and Genomics (Clinical Genetics)
American Board of Pediatrics (General)
Professional History
Dr. Boone holds an M.D. and Ph.D. in Molecular and Human Genetics from Baylor College of Medicine. He completed Pediatrics residency training at Boston Children's Hospital and Clinical Genetics fellowship training at Harvard Medical School. He is an author on over 25 publications about medical genetics. Dr. Boone is an attending physician in the Division of Genetics and Genomics at Boston Children's, as well as a research fellow in the Center for Genomic Medicine at Massachusetts General Hospital.
Approach to Care
I am a pediatrician specializing in medical genetics. At every clinic visit, I strive to provide an accurate diagnosis, up-to-date treatment, and clear communication for patients and families affected by genetic health problems. I see a broad range of patients, but also have special interests in rare disorders, medical mysteries, deletion and duplication syndromes, and Cornelia de Lange syndrome.
Publications
KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndrome. View Abstract
X-linked competition - implications for human development and disease. View Abstract
Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes. View Abstract
Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly. View Abstract
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features. View Abstract
Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features. View Abstract
Beyond the exome: What's next in diagnostic testing for Mendelian conditions. View Abstract
Beyond the exome: what's next in diagnostic testing for Mendelian conditions. View Abstract
Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models. View Abstract
A cross-disorder dosage sensitivity map of the human genome. View Abstract
Centers for Mendelian Genomics: A decade of facilitating gene discovery. View Abstract
Free, online videos for distance learning in medical genetics. View Abstract
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants. View Abstract
Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome. View Abstract
The Genetics of Pneumothorax. View Abstract
Genetic architecture of laterality defects revealed by whole exome sequencing. View Abstract
Familial pneumothorax: towards precision medicine. View Abstract
Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort. View Abstract
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. View Abstract
Increased bone turnover, osteoporosis, progressive tibial bowing, fractures, and scoliosis in a patient with a final-exon SATB2 frameshift mutation. View Abstract
Adolescents, Family History, and Inherited Disease Risk: An Opportunity. View Abstract
A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics. View Abstract
Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death. View Abstract
Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing. View Abstract
Analysis of the ABCA4 genomic locus in Stargardt disease. View Abstract
The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles. View Abstract
Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D. View Abstract
Detection of clinically relevant copy number variants with whole-exome sequencing. View Abstract
Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles. View Abstract
Incidental copy-number variants identified by routine genome testing in a clinical population. View Abstract
Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions. View Abstract
Abnormal circadian rhythm of melatonin in Smith-Magenis syndrome patients with RAI1 point mutations. View Abstract
Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia. View Abstract
Genomic medicine and neurological disease. View Abstract
Detection of clinically relevant exonic copy-number changes by array CGH. View Abstract