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Anne O'Donnell Luria, M.D., Ph.D.

Concepts (358)

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?
Rare Diseases1220246223.360 Why?
Genetic Variation18202465671.390 Why?
Genome, Human15202444250.820 Why?
Genomics11202358210.790 Why?
Inheritance Patterns120233410.750 Why?
Phenotype312024165910.740 Why?
Genetic Testing9202435370.700 Why?
Heterozygote6202427870.550 Why?
DNA Copy Number Variations3202420200.550 Why?
Hyperammonemia12017760.530 Why?
Genetic Association Studies9202227350.520 Why?
Glutamine120175770.450 Why?
Software6202444340.440 Why?
Coma120174840.430 Why?
Pathology, Molecular120163280.420 Why?
Genetic Predisposition to Disease162024179040.410 Why?
Databases, Genetic8202317420.400 Why?
DNA Methylation7202443980.400 Why?
Genome7202317400.390 Why?
Computational Biology5202435180.390 Why?
Sequence Analysis, DNA8202447400.380 Why?
Haploinsufficiency420233370.380 Why?
Penetrance420233830.380 Why?
Arthrogryposis22022680.360 Why?
Muscular Diseases320245530.360 Why?
Muscular Dystrophies220233900.330 Why?
Gene Frequency8202436060.320 Why?
Mutation212024300520.320 Why?
Cytosine120092110.300 Why?
Microcephaly220234250.290 Why?
Epilepsy2202132900.280 Why?
Genetic Diseases, Inborn220246040.280 Why?
Magnetic Resonance Spectroscopy1201737690.270 Why?
Genetics, Population220239370.270 Why?
DNA-Binding Proteins3202496060.270 Why?
Humans8920247615040.260 Why?
Intercellular Signaling Peptides and Proteins3202116510.250 Why?
Isotopes120041250.240 Why?
alpha-Glucosidases12004450.240 Why?
Disease220206720.240 Why?
Consanguinity220174560.240 Why?
Craniofacial Abnormalities220243190.230 Why?
RNA, Small Nuclear12024750.230 Why?
De Lange Syndrome12024210.230 Why?
Mammals1200911320.220 Why?
Turner Syndrome120151290.220 Why?
Solvents120042950.220 Why?
Mutation, Missense5202425710.220 Why?
Genetic Counseling220216270.220 Why?
Developmental Disabilities4202315090.220 Why?
Pedigree6202145420.220 Why?
Chromosomes, Human, Pair 9120245350.200 Why?
Exons3202323910.200 Why?
Nanopores12022440.200 Why?
High-Throughput Nucleotide Sequencing4202436390.200 Why?
Vestibular Diseases120242300.190 Why?
Zebrafish2202430070.190 Why?
Intranuclear Space12021150.190 Why?
Neuromuscular Diseases120242580.190 Why?
Homozygote4202117760.190 Why?
Face2202410260.180 Why?
Repressor Proteins3202029860.180 Why?
Primates120235230.180 Why?
Hematologic Diseases120244960.180 Why?
Selection, Genetic320238680.170 Why?
Brain102024271120.170 Why?
Calibration120228180.170 Why?
Chloride Channels120212210.170 Why?
Uniparental Disomy12019450.170 Why?
Ophthalmoplegia120211680.170 Why?
Abnormalities, Multiple2202414230.170 Why?
Chromosome Deletion1202413860.170 Why?
CpG Islands4202012300.170 Why?
Histone Acetyltransferases120213360.170 Why?
Muscular Dystrophy, Duchenne120222670.160 Why?
Child182024801530.160 Why?
Chromosome Mapping4202346150.160 Why?
Adenosine Deaminase120212510.160 Why?
Movement Disorders120234590.160 Why?
Genes, Essential120201850.160 Why?
Malformations of Cortical Development120211760.160 Why?
5' Untranslated Regions120202560.160 Why?
Infertility, Female120157600.160 Why?
Hydroxocobalamin12018270.160 Why?
Anemia, Megaloblastic12018240.160 Why?
Spasms, Infantile120222980.160 Why?
Cohort Studies92024414870.160 Why?
Uncertainty120237540.150 Why?
Child, Preschool132024422300.150 Why?
Membrane Glycoproteins2202037020.150 Why?
Eczema120202460.150 Why?
Physicians1201645910.150 Why?
Molecular Sequence Annotation120205220.150 Why?
Anemia, Diamond-Blackfan120181380.150 Why?
Abortion, Spontaneous120235330.150 Why?
Multifactorial Inheritance2202313870.150 Why?
Niemann-Pick Disease, Type C12017490.140 Why?
Glomerulosclerosis, Focal Segmental120213350.140 Why?
Sodium Benzoate12017140.140 Why?
Genetics, Medical120203340.140 Why?
Xenopus Proteins120204340.140 Why?
Tubulin120216930.140 Why?
Marfan Syndrome120192360.140 Why?
Neuropeptides120239440.140 Why?
Phenylacetates120171120.140 Why?
Male3520243608040.140 Why?
Cerebral Palsy120224740.140 Why?
Genome-Wide Association Study62024126900.140 Why?
Thrombotic Microangiopathies120181230.140 Why?
Histone-Lysine N-Methyltransferase220246820.140 Why?
Nephrotic Syndrome120213900.140 Why?
DNA Mutational Analysis4202041110.140 Why?
Female3320243926440.140 Why?
Embryo, Nonmammalian120209060.140 Why?
Multigene Family1201910760.130 Why?
Ion Channels1202110400.130 Why?
Adolescent142024883190.130 Why?
Carrier Proteins2202149360.130 Why?
Histone Deacetylases120207190.130 Why?
Gene Deletion3201926650.130 Why?
Glutamates120173890.130 Why?
Models, Genetic2202334420.130 Why?
Body Patterning120206320.130 Why?
Growth Disorders120206550.130 Why?
Genetic Heterogeneity120197320.120 Why?
Alleles6202468630.120 Why?
Protein Biosynthesis1202221130.120 Why?
Facies320212220.120 Why?
Bone Morphogenetic Proteins120208420.120 Why?
Prion Diseases120161000.120 Why?
Genotype72023129900.110 Why?
Cardiomyopathies2202419640.110 Why?
Fibrosis1202120490.110 Why?
Autistic Disorder1202312200.110 Why?
Dyslipidemias120218680.110 Why?
Hematopoiesis1202320490.110 Why?
Heart Defects, Congenital3202446710.110 Why?
Thrombocytopenia1202111810.110 Why?
Genes1201718230.110 Why?
Histones2202225800.110 Why?
Information Storage and Retrieval120188190.110 Why?
Health120163980.100 Why?
Infant82024361920.100 Why?
Craniosynostoses120174120.100 Why?
Syndrome3202432670.100 Why?
Nerve Tissue Proteins2202344140.100 Why?
Failure to Thrive220241400.090 Why?
Young Adult62024592430.090 Why?
Databases, Nucleic Acid120112050.090 Why?
Adaptor Proteins, Signal Transducing1202128980.090 Why?
Amino Acid Substitution3202017380.090 Why?
Spermatozoa120146300.090 Why?
RNA Splice Sites220242110.090 Why?
Base Sequence32023124410.090 Why?
Polymorphism, Single Nucleotide42024159360.080 Why?
Internet1202230920.080 Why?
Psychiatry1202216930.080 Why?
Virulence2202413030.080 Why?
Germ-Line Mutation1201718580.080 Why?
Gastric Bypass120178180.080 Why?
Adult1220242211770.080 Why?
HEK293 Cells3202342780.080 Why?
Access to Information220233160.080 Why?
Muscle, Skeletal4202449480.070 Why?
Open Reading Frames220228150.070 Why?
Mood Disorders1201411270.070 Why?
Animals1620241684590.070 Why?
Methyltransferases120093770.070 Why?
Patient Selection1201842440.070 Why?
Transcription, Genetic1202075940.070 Why?
Nucleosomes120094870.060 Why?
Pakistan220172920.060 Why?
Evolution, Molecular2201118860.060 Why?
Methylglucosides12004350.060 Why?
Proteins1202060320.060 Why?
Deuterium Oxide12004340.060 Why?
Buffers120041460.060 Why?
Chromatin2202229600.060 Why?
Amino Acid Sequence32021134460.060 Why?
Enzyme Stability120042190.060 Why?
Hypertrichosis12024310.060 Why?
Gene Expression Regulation12022119030.060 Why?
Spliceosomes120241300.060 Why?
Chondroitin Sulfate Proteoglycans120241410.060 Why?
National Human Genome Research Institute (U.S.)12023220.060 Why?
Sequence Analysis, RNA2202420200.060 Why?
Hydrolysis120046640.050 Why?
Suicide1201416010.050 Why?
Dystroglycans12023620.050 Why?
Dystrophin-Associated Proteins12023590.050 Why?
Actinin120241630.050 Why?
Karyotyping1201511710.050 Why?
Cell Line32021156010.050 Why?
Informatics12023720.050 Why?
Transcription Factors32023121280.050 Why?
Mental Disorders1202268450.050 Why?
Disease Models, Animal12021182520.050 Why?
Blepharophimosis12021210.050 Why?
RNA, Messenger32022127950.050 Why?
Connexins120233520.050 Why?
Dystrophin120232830.050 Why?
Congenital Hypothyroidism12021400.050 Why?
Mice82023815250.050 Why?
Disease Progression12018135060.050 Why?
S Phase120024210.050 Why?
Genes, Recessive120246230.050 Why?
Glucosyltransferases12021960.050 Why?
Scrotum120211160.050 Why?
Chromosome Breakage120211590.050 Why?
Psychomotor Disorders120211490.050 Why?
Substrate Specificity1200417910.040 Why?
Tumor Necrosis Factor Receptor-Associated Peptides and Proteins12020440.040 Why?
Reproductive Techniques, Assisted120154970.040 Why?
Intracellular Signaling Peptides and Proteins2202328720.040 Why?
Radiation Tolerance120024790.040 Why?
Hydrogen-Ion Concentration1200424960.040 Why?
Myoblasts120212310.040 Why?
User-Computer Interface2201914000.040 Why?
Patella120213150.040 Why?
Middle Aged920242208950.040 Why?
Genetic Loci2202126320.040 Why?
Codon, Nonsense120212850.040 Why?
Protons1200411160.040 Why?
Siblings120238250.040 Why?
Glycine120226630.040 Why?
Pregnancy Trimester, First120239070.040 Why?
Autopsy1202310080.040 Why?
Poisson Distribution120205040.040 Why?
Psychopathology120224320.040 Why?
Arginine120229340.040 Why?
Immune System Diseases120212560.040 Why?
Chromosomal Proteins, Non-Histone120247270.040 Why?
Aging2201487080.040 Why?
Regulatory Sequences, Nucleic Acid120227900.040 Why?
Urogenital Abnormalities120212610.040 Why?
Chromosome Disorders120214970.040 Why?
Filipin12017130.040 Why?
Australia1202112500.040 Why?
Temperature1200422260.040 Why?
Alternative Splicing1202310930.040 Why?
Genomic Imprinting120193290.040 Why?
Neuregulins12017360.040 Why?
Collagen Type VI12017250.040 Why?
Hematologic Tests120182390.040 Why?
Vitamin B 12 Deficiency120181180.040 Why?
Hydrops Fetalis120171130.040 Why?
Diabetes Mellitus, Type 212021121480.040 Why?
Injections, Intramuscular120185540.030 Why?
Kinetics1200463740.030 Why?
Binding Sites2202160550.030 Why?
1-Alkyl-2-acetylglycerophosphocholine Esterase120171270.030 Why?
Podocytes120214050.030 Why?
Reference Standards1202010030.030 Why?
Blood Chemical Analysis120184370.030 Why?
Ribosomal Proteins120183710.030 Why?
Receptors, Notch120217430.030 Why?
Muscles1202115760.030 Why?
Germ Cells120206340.030 Why?
Xenopus laevis120209630.030 Why?
Aneuploidy120195510.030 Why?
Liver Failure, Acute120171810.030 Why?
BRCA1 Protein1200211550.030 Why?
Kidney2202170480.030 Why?
Genes, Lethal120162230.030 Why?
Gene Expression Profiling1201194200.030 Why?
Prenatal Diagnosis1202312650.030 Why?
Apolipoprotein C-III120172110.030 Why?
Ribosomes120185010.030 Why?
Cell Cycle Proteins2202434480.030 Why?
Ultrasonography, Prenatal1202317550.030 Why?
Postprandial Period120173150.030 Why?
National Institutes of Health (U.S.)120197930.030 Why?
Educational Status1202225220.030 Why?
HeLa Cells1202130930.030 Why?
Recombinant Proteins1200465340.030 Why?
Gene Dosage1201912170.030 Why?
Haplotypes1202127130.030 Why?
Fatal Outcome1201918340.030 Why?
Prions120161800.030 Why?
Enzyme Inhibitors1200437120.030 Why?
Interleukin-8120176950.030 Why?
Joint Instability120218010.030 Why?
Mice, Knockout22021144140.030 Why?
Saccharomyces cerevisiae1200426880.030 Why?
TOR Serine-Threonine Kinases1202320570.030 Why?
Treatment Outcome22018646800.030 Why?
Mice, 129 Strain120143710.030 Why?
Early Diagnosis1201811860.030 Why?
Sample Size120168410.030 Why?
Gene Expression Regulation, Developmental1202436120.030 Why?
Gene Knockout Techniques120168020.030 Why?
Consensus1202231230.030 Why?
Glucose1200443460.030 Why?
Neoplasm Proteins1202436170.020 Why?
Prevalence22019157320.020 Why?
Reproducibility of Results22020200980.020 Why?
Drosophila melanogaster1202117120.020 Why?
Drosophila Proteins1202116990.020 Why?
Blood Transfusion1201812980.020 Why?
Fathers120143760.020 Why?
Pregnancy22023298740.020 Why?
Fertility120167710.020 Why?
Models, Molecular1202154390.020 Why?
Fasting1201716030.020 Why?
Information Dissemination1201811260.020 Why?
Validation Studies as Topic120101620.020 Why?
Polymerase Chain Reaction1201960750.020 Why?
Infant, Newborn22021261980.020 Why?
Triglycerides1201724610.020 Why?
Dietary Fats1201719950.020 Why?
Bayes Theorem1201723300.020 Why?
Algorithms22021140310.020 Why?
Seizures1202129570.020 Why?
Risk Assessment22021239950.020 Why?
DNA1202272120.020 Why?
Phosphoproteins1201724480.020 Why?
Mental Health1202232500.020 Why?
Pan troglodytes120072230.020 Why?
Drug Prescriptions1201616700.020 Why?
Proteome1201618620.020 Why?
Epigenesis, Genetic2201138020.020 Why?
Epigenomics120119430.020 Why?
Delivery of Health Care1202353360.020 Why?
Mothers1201621980.020 Why?
Cell Line, Tumor12021169810.010 Why?
Cognition1202269900.010 Why?
Motor Activity1201427150.010 Why?
Membrane Proteins1202178560.010 Why?
Conserved Sequence1200711630.010 Why?
United States22023723340.010 Why?
Risk Factors22023742060.010 Why?
Species Specificity1200724140.010 Why?
Coronary Disease1201759140.010 Why?
G2 Phase120021360.010 Why?
Liver1201775290.010 Why?
Gene Expression1201475810.010 Why?
Breast1201019670.010 Why?
Aged320211692890.010 Why?
Severity of Illness Index12018158420.010 Why?
Protein Structure, Tertiary1200737920.010 Why?
Embryonic Stem Cells1200712630.010 Why?
Genes, BRCA1120027640.010 Why?
Serine120028300.010 Why?
Case-Control Studies12016221760.010 Why?
Signal Transduction12021234450.010 Why?
Prognosis12018296250.010 Why?
Age Factors12014183950.010 Why?
Myocardial Infarction12017114600.010 Why?
Tumor Cells, Cultured1200261320.010 Why?
Retrospective Studies12023806360.010 Why?
Transfection1200257740.010 Why?
Cardiovascular Diseases12020155000.010 Why?
Magnetic Resonance Imaging12020364260.010 Why?
DNA Damage1200224460.010 Why?
Tumor Suppressor Proteins1200228030.010 Why?
Aged, 80 and over12017589760.010 Why?
Phosphorylation1200283200.010 Why?
Breast Neoplasms12002210120.000 Why?
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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.