Harvard Catalyst Profiles

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

Concepts (156)

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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 Variations10202219401.310 Why?
De Lange Syndrome12024220.950 Why?
Genetics, Medical220203380.910 Why?
Comparative Genomic Hybridization520144960.880 Why?
Alu Elements220141190.850 Why?
Exons6202024390.790 Why?
Spastic Paraplegia, Hereditary220141570.740 Why?
Lymphangiectasis, Intestinal12019100.720 Why?
Audiovisual Aids12020910.700 Why?
Birt-Hogg-Dube Syndrome12019390.670 Why?
Adenosine Triphosphatases220148390.650 Why?
Pneumothorax220193790.650 Why?
F-Box Proteins120191970.620 Why?
Craniofacial Abnormalities120193150.580 Why?
Homozygote4201917860.570 Why?
Education, Distance120202510.560 Why?
Matrix Attachment Region Binding Proteins12016440.560 Why?
Frameshift Mutation120163990.490 Why?
Cation Transport Proteins220143270.480 Why?
Adolescent Health Services120162150.480 Why?
Lymphedema120195340.430 Why?
Medical History Taking120167830.420 Why?
Genomics4202257220.420 Why?
Genetic Diseases, Inborn220175870.420 Why?
Genes, Recessive320146430.420 Why?
Genetic Predisposition to Disease42019174490.410 Why?
Smith-Magenis Syndrome12011190.410 Why?
Phenotype72024163650.400 Why?
Internet2202030630.350 Why?
Abnormalities, Multiple2201614160.350 Why?
Tumor Suppressor Proteins1201928480.330 Why?
Gene Deletion2201327510.320 Why?
Alleles3201969380.300 Why?
Proto-Oncogene Proteins1201945530.280 Why?
Point Mutation1201116240.270 Why?
Melatonin120117210.260 Why?
Sequence Deletion4201715260.250 Why?
Transcription Factors22016122070.240 Why?
Pedigree4201946480.240 Why?
Chondroitin Sulfate Proteoglycans120241360.230 Why?
Genetic Testing4202334430.230 Why?
Genetic Association Studies4202227020.230 Why?
Haploinsufficiency320223290.220 Why?
Base Sequence52014128010.200 Why?
Loss of Heterozygosity120246840.200 Why?
Pediatrics1201634690.190 Why?
Nervous System Diseases1201116230.190 Why?
Blepharophimosis12020220.190 Why?
Procollagen N-Endopeptidase12019190.180 Why?
Sequence Analysis, DNA5202348030.180 Why?
Educational Technology12020600.180 Why?
Circadian Rhythm1201126240.170 Why?
Heterozygote2202428050.170 Why?
Mutation82024297840.160 Why?
Chromosomal Proteins, Non-Histone120247360.160 Why?
Cell Cycle Proteins2202434610.160 Why?
Hemizygote12017280.150 Why?
Genotype32019129560.140 Why?
High-Throughput Nucleotide Sequencing4201735980.140 Why?
GTP Phosphohydrolases120195080.130 Why?
Neural Stem Cells120228500.130 Why?
Introns320149910.130 Why?
Molecular Diagnostic Techniques120196020.120 Why?
Inheritance Patterns220173400.120 Why?
Refsum Disease1201380.120 Why?
Computational Biology2201735230.120 Why?
Humans2720247442200.110 Why?
Cell Line, Transformed120148980.110 Why?
Charcot-Marie-Tooth Disease12013980.110 Why?
Immunologic Deficiency Syndromes120165470.110 Why?
Bone Remodeling120165750.110 Why?
Zebrafish Proteins1201910040.110 Why?
Gene Order120121760.110 Why?
Protein Isoforms2201417310.100 Why?
Genome, Human2202244200.100 Why?
Microarray Analysis220127660.100 Why?
Induced Pluripotent Stem Cells1202217360.100 Why?
ATP-Binding Cassette Transporters120145600.100 Why?
Chromosome Breakpoints12010980.090 Why?
Cell Adhesion Molecules, Neuronal120122650.090 Why?
Drosophila melanogaster1201917080.090 Why?
Genes, Dominant120138800.090 Why?
Disease120166810.090 Why?
Scoliosis120167250.090 Why?
Biomedical Technology120112210.080 Why?
Sleep Disorders, Circadian Rhythm120112220.080 Why?
Molecular Sequence Data22011181160.080 Why?
Sleep Stages120116860.070 Why?
Patient Participation1201614570.070 Why?
Macular Degeneration120149810.070 Why?
Osteoporosis1201615800.070 Why?
Gene Frequency1201335880.070 Why?
Databases, Genetic1201317820.070 Why?
Recombinant Fusion Proteins1201437720.070 Why?
Age of Onset1201232700.070 Why?
Radiography1201670220.060 Why?
Child, Preschool32019409920.060 Why?
Gene Expression3201477990.060 Why?
Genetic Loci1201425750.060 Why?
Adolescent52016857590.060 Why?
Fractures, Bone1201619470.060 Why?
Chromosome Mapping1201247420.060 Why?
Male1120193500270.060 Why?
Referral and Consultation1201635280.060 Why?
Intracellular Signaling Peptides and Proteins1201329160.060 Why?
Physician-Patient Relations1201632270.050 Why?
Genetic Variation2201665460.050 Why?
Heart Defects, Congenital1201945860.050 Why?
Trans-Activators1201129240.050 Why?
Reproducibility of Results32017199070.050 Why?
Disease Management1201124580.050 Why?
Pandemics1202083870.040 Why?
Genome-Wide Association Study22016122640.040 Why?
Nerve Tissue Proteins1201244650.040 Why?
Practice Guidelines as Topic1201672810.040 Why?
Peroxidases120191380.040 Why?
Rare Diseases120235530.040 Why?
Histone Acetyltransferases120203360.040 Why?
Gene Dosage1202212510.040 Why?
Child42016776790.040 Why?
Female920193801970.030 Why?
Infant32016351290.030 Why?
Consanguinity120174560.030 Why?
Risk Assessment12016233370.030 Why?
Body Patterning120196260.030 Why?
Genome1202218080.030 Why?
Embryonic Development120197110.030 Why?
Turkey120132370.030 Why?
Gene Duplication120133300.030 Why?
Workflow120178470.030 Why?
Neural Cell Adhesion Molecules120121260.030 Why?
Young Adult32016564360.030 Why?
Alternative Splicing1201711180.020 Why?
Muscle Hypotonia120121650.020 Why?
Animals220191687880.020 Why?
Infant, Newborn12010256180.020 Why?
Alzheimer Disease1201180370.020 Why?
Brain12016264130.020 Why?
Magnetic Resonance Imaging12016354230.020 Why?
Transcription, Genetic1202277230.020 Why?
United States12016698670.020 Why?
Zebrafish1201929940.020 Why?
Calcium-Binding Proteins1201210800.020 Why?
Child Development Disorders, Pervasive120126150.020 Why?
Models, Genetic1201734940.020 Why?
Adult420162140350.020 Why?
Algorithms22017138850.020 Why?
Neurons1202293350.010 Why?
Pilot Projects1201683210.010 Why?
Software1201644420.010 Why?
Diagnosis, Differential12016129610.010 Why?
Case-Control Studies12014217520.010 Why?
Cohort Studies12017405590.010 Why?
Retrospective Studies12016774260.000 Why?
Aged120161632530.000 Why?
Middle Aged120162133670.000 Why?
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Concepts (156)
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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.