Concepts (122)
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 Diseases | 2 | 2023 | 184 | 1.180 |
Why?
|
Genetic Diseases, Inborn | 4 | 2019 | 446 | 1.070 |
Why?
|
Angelman Syndrome | 3 | 2014 | 69 | 0.980 |
Why?
|
Ubiquitin-Protein Ligases | 3 | 2014 | 351 | 0.800 |
Why?
|
Mediator Complex | 1 | 2021 | 53 | 0.720 |
Why?
|
Nervous System Malformations | 1 | 2021 | 127 | 0.650 |
Why?
|
RNA, Antisense | 3 | 2014 | 35 | 0.640 |
Why?
|
Dystonia | 1 | 2021 | 169 | 0.630 |
Why?
|
Cerebellum | 1 | 2021 | 413 | 0.570 |
Why?
|
Pyrroline Carboxylate Reductases | 1 | 2016 | 5 | 0.560 |
Why?
|
Exome | 6 | 2023 | 1041 | 0.560 |
Why?
|
Hereditary Central Nervous System Demyelinating Diseases | 1 | 2016 | 17 | 0.550 |
Why?
|
Developmental Disabilities | 1 | 2021 | 695 | 0.520 |
Why?
|
Gene Targeting | 1 | 2015 | 179 | 0.490 |
Why?
|
Homozygote | 1 | 2016 | 533 | 0.480 |
Why?
|
Oligonucleotides, Antisense | 1 | 2014 | 74 | 0.470 |
Why?
|
Intensive Care Units, Pediatric | 1 | 2017 | 470 | 0.450 |
Why?
|
Speech Disorders | 1 | 2013 | 42 | 0.440 |
Why?
|
Microcephaly | 1 | 2016 | 328 | 0.440 |
Why?
|
RNA, Long Noncoding | 1 | 2014 | 210 | 0.400 |
Why?
|
Phenotype | 8 | 2022 | 4221 | 0.390 |
Why?
|
Genetic Association Studies | 3 | 2019 | 760 | 0.360 |
Why?
|
Genomic Imprinting | 3 | 2014 | 123 | 0.310 |
Why?
|
Mutation | 4 | 2019 | 5772 | 0.310 |
Why?
|
Intellectual Disability | 1 | 2013 | 1043 | 0.270 |
Why?
|
Genetic Variation | 3 | 2021 | 1478 | 0.250 |
Why?
|
Alleles | 4 | 2019 | 1602 | 0.240 |
Why?
|
Genetic Predisposition to Disease | 3 | 2019 | 3090 | 0.240 |
Why?
|
DNA Copy Number Variations | 2 | 2020 | 940 | 0.230 |
Why?
|
Gene Silencing | 2 | 2014 | 237 | 0.220 |
Why?
|
High-Throughput Nucleotide Sequencing | 3 | 2019 | 864 | 0.220 |
Why?
|
Laboratories | 1 | 2023 | 83 | 0.200 |
Why?
|
Micrognathism | 1 | 2021 | 65 | 0.190 |
Why?
|
Hand Deformities, Congenital | 1 | 2021 | 89 | 0.180 |
Why?
|
INDEL Mutation | 1 | 2020 | 88 | 0.170 |
Why?
|
N-Terminal Acetyltransferase A | 1 | 2019 | 8 | 0.170 |
Why?
|
N-Terminal Acetyltransferase E | 1 | 2019 | 8 | 0.170 |
Why?
|
Artificial Intelligence | 1 | 2023 | 233 | 0.170 |
Why?
|
Exons | 2 | 2020 | 795 | 0.170 |
Why?
|
Spastic Paraplegia, Hereditary | 1 | 2019 | 29 | 0.170 |
Why?
|
Neurons | 3 | 2014 | 1926 | 0.160 |
Why?
|
Humans | 17 | 2023 | 122991 | 0.160 |
Why?
|
Cataract | 1 | 2021 | 218 | 0.150 |
Why?
|
Infant Care | 1 | 2017 | 46 | 0.150 |
Why?
|
Transcription, Genetic | 2 | 2013 | 1695 | 0.140 |
Why?
|
Retrospective Studies | 5 | 2023 | 15928 | 0.140 |
Why?
|
Mosaicism | 1 | 2019 | 240 | 0.140 |
Why?
|
Cells, Cultured | 2 | 2014 | 3050 | 0.140 |
Why?
|
Survival of Motor Neuron 1 Protein | 1 | 2017 | 20 | 0.140 |
Why?
|
Growth Charts | 1 | 2016 | 12 | 0.140 |
Why?
|
Pedigree | 2 | 2019 | 1582 | 0.140 |
Why?
|
Muscular Atrophy, Spinal | 1 | 2017 | 43 | 0.140 |
Why?
|
Codon | 1 | 2016 | 97 | 0.140 |
Why?
|
Genetic Carrier Screening | 1 | 2017 | 75 | 0.140 |
Why?
|
Amino Acid Sequence | 1 | 2021 | 2698 | 0.130 |
Why?
|
Sequence Analysis, DNA | 2 | 2019 | 1760 | 0.130 |
Why?
|
Genetic Counseling | 1 | 2017 | 222 | 0.130 |
Why?
|
Genetic Testing | 2 | 2019 | 995 | 0.130 |
Why?
|
Infant | 3 | 2021 | 12286 | 0.130 |
Why?
|
Abnormalities, Multiple | 1 | 2021 | 964 | 0.130 |
Why?
|
Amino Acid Substitution | 1 | 2016 | 389 | 0.120 |
Why?
|
Fetus | 1 | 2018 | 570 | 0.120 |
Why?
|
Child, Preschool | 3 | 2021 | 13819 | 0.120 |
Why?
|
Stroke | 1 | 2022 | 958 | 0.120 |
Why?
|
DNA Mutational Analysis | 1 | 2016 | 793 | 0.120 |
Why?
|
Mice, Inbred C57BL | 2 | 2014 | 4342 | 0.120 |
Why?
|
Carrier Proteins | 1 | 2019 | 1021 | 0.120 |
Why?
|
Software | 1 | 2019 | 677 | 0.120 |
Why?
|
Fathers | 1 | 2014 | 66 | 0.110 |
Why?
|
Brain | 2 | 2016 | 2943 | 0.110 |
Why?
|
Disease Management | 1 | 2017 | 515 | 0.110 |
Why?
|
Disease Models, Animal | 2 | 2014 | 4263 | 0.110 |
Why?
|
Child | 5 | 2021 | 24144 | 0.110 |
Why?
|
Metabolomics | 1 | 2016 | 397 | 0.110 |
Why?
|
Polymorphism, Single Nucleotide | 2 | 2019 | 2595 | 0.110 |
Why?
|
Epilepsy | 1 | 2021 | 859 | 0.110 |
Why?
|
Ultrasonography, Prenatal | 1 | 2018 | 906 | 0.110 |
Why?
|
Adolescent | 3 | 2021 | 19030 | 0.100 |
Why?
|
snRNP Core Proteins | 1 | 2012 | 8 | 0.100 |
Why?
|
Mice | 3 | 2014 | 17468 | 0.100 |
Why?
|
Memory Disorders | 1 | 2014 | 235 | 0.100 |
Why?
|
Prospective Studies | 1 | 2023 | 6022 | 0.100 |
Why?
|
Genome, Human | 1 | 2019 | 1266 | 0.100 |
Why?
|
Genome-Wide Association Study | 1 | 2019 | 1642 | 0.100 |
Why?
|
Length of Stay | 1 | 2017 | 1283 | 0.100 |
Why?
|
Critical Care | 1 | 2017 | 650 | 0.100 |
Why?
|
RNA Polymerase II | 1 | 2012 | 99 | 0.100 |
Why?
|
Polyadenylation | 1 | 2012 | 54 | 0.100 |
Why?
|
Molecular Targeted Therapy | 1 | 2013 | 352 | 0.090 |
Why?
|
Embryonic Stem Cells | 1 | 2012 | 172 | 0.090 |
Why?
|
Adult | 3 | 2021 | 28978 | 0.090 |
Why?
|
Biomarkers | 1 | 2019 | 2940 | 0.090 |
Why?
|
Male | 6 | 2019 | 59898 | 0.080 |
Why?
|
Texas | 1 | 2017 | 3542 | 0.080 |
Why?
|
Female | 6 | 2019 | 65304 | 0.080 |
Why?
|
Promoter Regions, Genetic | 1 | 2012 | 1335 | 0.080 |
Why?
|
Animals | 3 | 2014 | 33692 | 0.080 |
Why?
|
Genetic Loci | 2 | 2019 | 338 | 0.070 |
Why?
|
Infant, Newborn | 1 | 2017 | 8068 | 0.060 |
Why?
|
Time Factors | 1 | 2014 | 6198 | 0.060 |
Why?
|
Obesity | 1 | 2014 | 2226 | 0.050 |
Why?
|
Chromosomal Proteins, Non-Histone | 1 | 2021 | 214 | 0.040 |
Why?
|
Enzyme Stability | 1 | 2019 | 58 | 0.040 |
Why?
|
Actins | 1 | 2021 | 341 | 0.040 |
Why?
|
Facies | 1 | 2019 | 155 | 0.040 |
Why?
|
Enzyme Activation | 1 | 2019 | 619 | 0.040 |
Why?
|
Inheritance Patterns | 1 | 2018 | 125 | 0.040 |
Why?
|
Structure-Activity Relationship | 1 | 2019 | 568 | 0.040 |
Why?
|
Age of Onset | 1 | 2019 | 581 | 0.040 |
Why?
|
Lymphocytes | 1 | 2019 | 403 | 0.040 |
Why?
|
Protein Conformation | 1 | 2019 | 835 | 0.040 |
Why?
|
Survival of Motor Neuron 2 Protein | 1 | 2017 | 13 | 0.040 |
Why?
|
Models, Molecular | 1 | 2019 | 1069 | 0.030 |
Why?
|
Recombinant Proteins | 1 | 2019 | 1390 | 0.030 |
Why?
|
Family | 1 | 2018 | 576 | 0.030 |
Why?
|
Gene Dosage | 1 | 2017 | 441 | 0.030 |
Why?
|
Computational Biology | 1 | 2019 | 799 | 0.030 |
Why?
|
Genotype | 1 | 2019 | 2546 | 0.030 |
Why?
|
DNA-Binding Proteins | 1 | 2021 | 2048 | 0.030 |
Why?
|
Sensitivity and Specificity | 1 | 2017 | 2021 | 0.020 |
Why?
|
Reproducibility of Results | 1 | 2017 | 2848 | 0.020 |
Why?
|
Young Adult | 1 | 2019 | 8840 | 0.020 |
Why?
|