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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 Variations10202220451.210 Why?
De Lange Syndrome12024220.890 Why?
Genetics, Medical220203340.870 Why?
Comparative Genomic Hybridization520144740.830 Why?
Alu Elements220141150.800 Why?
Exons6202023930.750 Why?
Spastic Paraplegia, Hereditary220141710.690 Why?
Lymphangiectasis, Intestinal12019100.680 Why?
Audiovisual Aids12020980.650 Why?
Birt-Hogg-Dube Syndrome12019400.630 Why?
Pneumothorax220193920.610 Why?
Adenosine Triphosphatases220148390.610 Why?
F-Box Proteins120191990.590 Why?
Craniofacial Abnormalities120193200.550 Why?
Homozygote4201917740.540 Why?
Education, Distance120202600.530 Why?
Matrix Attachment Region Binding Proteins12016480.520 Why?
Frameshift Mutation120163920.460 Why?
Cation Transport Proteins220143250.460 Why?
Adolescent Health Services120162170.450 Why?
Lymphedema120195250.410 Why?
Medical History Taking120167790.400 Why?
Genetic Diseases, Inborn220176060.400 Why?
Genomics4202259250.400 Why?
Genes, Recessive320146250.400 Why?
Genetic Predisposition to Disease42019180740.380 Why?
Smith-Magenis Syndrome12011190.380 Why?
Phenotype72024167140.370 Why?
Internet2202031060.330 Why?
Abnormalities, Multiple2201614240.330 Why?
Tumor Suppressor Proteins1201927950.320 Why?
Gene Deletion2201326670.310 Why?
Alleles3201968910.280 Why?
Proto-Oncogene Proteins1201945200.270 Why?
Point Mutation1201115900.260 Why?
Melatonin120116720.250 Why?
Sequence Deletion4201714940.240 Why?
Ring Chromosomes12024260.240 Why?
Transcription Factors22016121290.230 Why?
Pedigree4201945350.230 Why?
Chondroitin Sulfate Proteoglycans120241420.220 Why?
Genetic Association Studies4202227440.210 Why?
Genetic Testing4202335940.210 Why?
Haploinsufficiency320223340.200 Why?
Sequence Analysis, DNA6202447800.200 Why?
Base Sequence52014124050.200 Why?
Pediatrics1201636090.180 Why?
Nervous System Diseases1201116570.180 Why?
Blepharophimosis12020210.170 Why?
Procollagen N-Endopeptidase12019190.170 Why?
Educational Technology12020590.170 Why?
Circadian Rhythm1201125940.170 Why?
Translocation, Genetic1202413930.160 Why?
Heterozygote2202427960.160 Why?
Mutation82024301920.160 Why?
High-Throughput Nucleotide Sequencing5202436610.150 Why?
Chromosomal Proteins, Non-Histone120247230.150 Why?
Telomere120249410.150 Why?
Cell Cycle Proteins2202434310.150 Why?
Hemizygote12017270.140 Why?
Genotype32019130260.140 Why?
GTP Phosphohydrolases120195230.120 Why?
Neural Stem Cells120228970.120 Why?
Introns320149650.120 Why?
Molecular Diagnostic Techniques120196140.120 Why?
Inheritance Patterns220173450.110 Why?
Computational Biology2201735620.110 Why?
Refsum Disease1201380.110 Why?
Humans2820247659260.110 Why?
Cell Line, Transformed120148580.100 Why?
Charcot-Marie-Tooth Disease120131020.100 Why?
Bone Remodeling120165770.100 Why?
Immunologic Deficiency Syndromes120165470.100 Why?
Zebrafish Proteins1201910170.100 Why?
Gene Order120121640.100 Why?
Protein Isoforms2201417160.100 Why?
Genome, Human2202244430.100 Why?
Microarray Analysis220127520.090 Why?
ATP-Binding Cassette Transporters120145660.090 Why?
Induced Pluripotent Stem Cells1202218840.090 Why?
Chromosome Breakpoints12010930.090 Why?
Chromosome Mapping2202446170.090 Why?
Cell Adhesion Molecules, Neuronal120122620.090 Why?
Genes, Dominant120138550.090 Why?
Drosophila melanogaster1201917250.090 Why?
Disease120166740.090 Why?
Scoliosis120167930.080 Why?
Biomedical Technology120112100.080 Why?
Sleep Disorders, Circadian Rhythm120111970.080 Why?
Molecular Sequence Data22011175960.070 Why?
Sleep Stages120117050.070 Why?
Patient Participation1201614470.070 Why?
Macular Degeneration1201410020.070 Why?
Osteoporosis1201615820.070 Why?
Databases, Genetic1201317560.060 Why?
Gene Frequency1201336230.060 Why?
Recombinant Fusion Proteins1201437330.060 Why?
Gene Expression3201475810.060 Why?
Radiography1201669410.060 Why?
Age of Onset1201233430.060 Why?
Genetic Loci1201426300.060 Why?
Child, Preschool32019425100.060 Why?
Adolescent52016888110.060 Why?
Genomic Structural Variation12024810.060 Why?
Fractures, Bone1201620410.060 Why?
Male1120193638150.050 Why?
Intracellular Signaling Peptides and Proteins1201328790.050 Why?
Referral and Consultation1201636150.050 Why?
Physician-Patient Relations1201632700.050 Why?
Genetic Variation2201666120.050 Why?
Heart Defects, Congenital1201947120.050 Why?
Trans-Activators1201128480.050 Why?
Reproducibility of Results32017201330.050 Why?
Disease Management1201125300.040 Why?
Pandemics1202087210.040 Why?
Nerve Tissue Proteins1201243940.040 Why?
Genome-Wide Association Study22016128030.040 Why?
Practice Guidelines as Topic1201674230.040 Why?
Peroxidases120191340.040 Why?
Histone Acetyltransferases120203320.040 Why?
Gene Dosage1202212130.040 Why?
Rare Diseases120236290.040 Why?
Child42016805680.030 Why?
Infant32016364260.030 Why?
Female920193961410.030 Why?
Consanguinity120174600.030 Why?
Risk Assessment12016242750.030 Why?
Genome1202217530.030 Why?
Body Patterning120196330.030 Why?
Embryonic Development120197190.030 Why?
Turkey120132810.030 Why?
Gene Duplication120133160.020 Why?
Neural Cell Adhesion Molecules120121220.020 Why?
Workflow120178590.020 Why?
Alternative Splicing1201711030.020 Why?
Young Adult32016598570.020 Why?
Muscle Hypotonia120121660.020 Why?
Animals220191687350.020 Why?
Infant, Newborn12010263800.020 Why?
Alzheimer Disease1201187220.020 Why?
Brain12016271790.020 Why?
Magnetic Resonance Imaging12016365470.020 Why?
Transcription, Genetic1202275990.020 Why?
United States12016729090.020 Why?
Calcium-Binding Proteins1201210770.020 Why?
Child Development Disorders, Pervasive120125970.020 Why?
Zebrafish1201930350.020 Why?
Models, Genetic1201734470.020 Why?
Adult420162230880.020 Why?
Algorithms22017140640.010 Why?
Neurons1202295270.010 Why?
Pilot Projects1201687240.010 Why?
Software1201644620.010 Why?
Diagnosis, Differential12016129730.010 Why?
Case-Control Studies12014222280.010 Why?
Cohort Studies12017416800.010 Why?
Retrospective Studies12016815370.000 Why?
Aged120161711630.000 Why?
Middle Aged120162230160.000 Why?
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Concepts (159)
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Co-Authors (52)
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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.