Harvard Catalyst Profiles

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Philip Michael Boone, M.D., Ph.D.

Concepts (159)

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Concepts are derived automatically from a person's publications.
Concepts are listed by decreasing relevance which is based on many factors, including how many publications the person wrote about that topic, how long ago those publications were written, and how many publications other people have written on that same topic.
Name Number of Publications Most Recent Publication Publications by All Authors Concept Score Why?
DNA Copy Number Variations10202220201.230 Why?
De Lange Syndrome12024210.910 Why?
Genetics, Medical220203340.880 Why?
Comparative Genomic Hybridization520144730.850 Why?
Alu Elements220141150.820 Why?
Exons6202023910.760 Why?
Spastic Paraplegia, Hereditary220141680.700 Why?
Lymphangiectasis, Intestinal12019100.690 Why?
Audiovisual Aids12020990.660 Why?
Birt-Hogg-Dube Syndrome12019400.640 Why?
Pneumothorax220193850.620 Why?
Adenosine Triphosphatases220148350.620 Why?
F-Box Proteins120192010.600 Why?
Craniofacial Abnormalities120193190.560 Why?
Homozygote4201917760.540 Why?
Education, Distance120202610.540 Why?
Matrix Attachment Region Binding Proteins12016470.530 Why?
Frameshift Mutation120163920.470 Why?
Cation Transport Proteins220143270.470 Why?
Adolescent Health Services120162180.460 Why?
Lymphedema120195250.420 Why?
Medical History Taking120167740.410 Why?
Genomics4202258210.410 Why?
Genetic Diseases, Inborn220176040.410 Why?
Genes, Recessive320146230.400 Why?
Genetic Predisposition to Disease42019179040.390 Why?
Smith-Magenis Syndrome12011190.390 Why?
Phenotype72024165910.380 Why?
Internet2202030920.340 Why?
Abnormalities, Multiple2201614230.330 Why?
Tumor Suppressor Proteins1201928030.320 Why?
Gene Deletion2201326650.310 Why?
Alleles3201968630.290 Why?
Proto-Oncogene Proteins1201945110.270 Why?
Point Mutation1201115950.260 Why?
Melatonin120116690.260 Why?
Sequence Deletion4201714940.250 Why?
Ring Chromosomes12024260.240 Why?
Transcription Factors22016121280.230 Why?
Pedigree4201945420.230 Why?
Chondroitin Sulfate Proteoglycans120241410.220 Why?
Genetic Association Studies4202227350.220 Why?
Genetic Testing4202335370.220 Why?
Sequence Analysis, DNA6202447400.200 Why?
Haploinsufficiency320223370.200 Why?
Base Sequence52014124410.200 Why?
Pediatrics1201635890.190 Why?
Nervous System Diseases1201116660.180 Why?
Blepharophimosis12020210.180 Why?
Procollagen N-Endopeptidase12019190.170 Why?
Educational Technology12020590.170 Why?
Circadian Rhythm1201125760.170 Why?
Translocation, Genetic1202413930.160 Why?
Heterozygote2202427870.160 Why?
Mutation82024300520.160 Why?
Chromosomal Proteins, Non-Histone120247270.160 Why?
High-Throughput Nucleotide Sequencing5202436390.160 Why?
Telomere120249430.150 Why?
Cell Cycle Proteins2202434480.150 Why?
Hemizygote12017280.140 Why?
Genotype32019129900.140 Why?
GTP Phosphohydrolases120195170.130 Why?
Neural Stem Cells120228880.120 Why?
Introns320149810.120 Why?
Molecular Diagnostic Techniques120196110.120 Why?
Inheritance Patterns220173410.120 Why?
Computational Biology2201735180.120 Why?
Refsum Disease1201380.120 Why?
Humans2820247615040.110 Why?
Cell Line, Transformed120148670.110 Why?
Charcot-Marie-Tooth Disease120131000.100 Why?
Bone Remodeling120165810.100 Why?
Immunologic Deficiency Syndromes120165470.100 Why?
Zebrafish Proteins1201910140.100 Why?
Protein Isoforms2201416990.100 Why?
Gene Order120121690.100 Why?
Genome, Human2202244250.100 Why?
Microarray Analysis220127490.100 Why?
ATP-Binding Cassette Transporters120145630.090 Why?
Induced Pluripotent Stem Cells1202218600.090 Why?
Chromosome Breakpoints12010930.090 Why?
Chromosome Mapping2202446150.090 Why?
Cell Adhesion Molecules, Neuronal120122630.090 Why?
Drosophila melanogaster1201917120.090 Why?
Disease120166720.090 Why?
Genes, Dominant120138520.090 Why?
Scoliosis120167410.080 Why?
Sleep Disorders, Circadian Rhythm120111960.080 Why?
Biomedical Technology120112110.080 Why?
Molecular Sequence Data22011176350.080 Why?
Sleep Stages120116940.070 Why?
Patient Participation1201614440.070 Why?
Macular Degeneration1201410070.070 Why?
Osteoporosis1201616060.070 Why?
Databases, Genetic1201317420.070 Why?
Gene Frequency1201336060.070 Why?
Recombinant Fusion Proteins1201437340.060 Why?
Age of Onset1201233050.060 Why?
Gene Expression3201475810.060 Why?
Radiography1201669650.060 Why?
Genetic Loci1201426320.060 Why?
Child, Preschool32019422300.060 Why?
Genomic Structural Variation12024680.060 Why?
Adolescent52016883190.060 Why?
Fractures, Bone1201620460.060 Why?
Male1120193608040.050 Why?
Intracellular Signaling Peptides and Proteins1201328720.050 Why?
Referral and Consultation1201636000.050 Why?
Physician-Patient Relations1201632490.050 Why?
Genetic Variation2201665670.050 Why?
Heart Defects, Congenital1201946710.050 Why?
Trans-Activators1201128560.050 Why?
Reproducibility of Results32017200980.050 Why?
Disease Management1201125080.040 Why?
Pandemics1202086540.040 Why?
Nerve Tissue Proteins1201244140.040 Why?
Genome-Wide Association Study22016126900.040 Why?
Practice Guidelines as Topic1201673900.040 Why?
Peroxidases120191340.040 Why?
Histone Acetyltransferases120203360.040 Why?
Gene Dosage1202212170.040 Why?
Rare Diseases120236220.040 Why?
Child42016801530.030 Why?
Female920193926440.030 Why?
Infant32016361920.030 Why?
Consanguinity120174560.030 Why?
Risk Assessment12016239950.030 Why?
Genome1202217400.030 Why?
Body Patterning120196320.030 Why?
Embryonic Development120197210.030 Why?
Turkey120132540.030 Why?
Gene Duplication120133140.030 Why?
Workflow120178510.020 Why?
Neural Cell Adhesion Molecules120121220.020 Why?
Alternative Splicing1201710930.020 Why?
Young Adult32016592430.020 Why?
Muscle Hypotonia120121610.020 Why?
Animals220191684590.020 Why?
Infant, Newborn12010261980.020 Why?
Alzheimer Disease1201185990.020 Why?
Brain12016271120.020 Why?
Magnetic Resonance Imaging12016364260.020 Why?
Transcription, Genetic1202275940.020 Why?
United States12016723340.020 Why?
Calcium-Binding Proteins1201210690.020 Why?
Zebrafish1201930070.020 Why?
Child Development Disorders, Pervasive120126000.020 Why?
Models, Genetic1201734420.020 Why?
Adult420162211770.020 Why?
Algorithms22017140310.010 Why?
Neurons1202294630.010 Why?
Pilot Projects1201686310.010 Why?
Software1201644340.010 Why?
Diagnosis, Differential12016129740.010 Why?
Case-Control Studies12014221760.010 Why?
Cohort Studies12017414870.010 Why?
Retrospective Studies12016806360.000 Why?
Aged120161692890.000 Why?
Middle Aged120162208950.000 Why?
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Concepts (159)
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Co-Authors (51)
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.