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 | 358 | 1.100 |
Why?
|
| Genetic Diseases, Inborn | 4 | 2019 | 458 | 1.080 |
Why?
|
| Angelman Syndrome | 3 | 2014 | 77 | 1.000 |
Why?
|
| Mediator Complex | 1 | 2021 | 67 | 0.720 |
Why?
|
| Ubiquitin-Protein Ligases | 3 | 2014 | 874 | 0.670 |
Why?
|
| Nervous System Malformations | 1 | 2021 | 135 | 0.660 |
Why?
|
| Dystonia | 1 | 2021 | 172 | 0.640 |
Why?
|
| RNA, Antisense | 3 | 2014 | 78 | 0.640 |
Why?
|
| Pyrroline Carboxylate Reductases | 1 | 2016 | 5 | 0.570 |
Why?
|
| Cerebellum | 1 | 2021 | 471 | 0.570 |
Why?
|
| Hereditary Central Nervous System Demyelinating Diseases | 1 | 2016 | 18 | 0.560 |
Why?
|
| Exome | 6 | 2023 | 1248 | 0.540 |
Why?
|
| Developmental Disabilities | 1 | 2021 | 697 | 0.520 |
Why?
|
| Gene Targeting | 1 | 2015 | 314 | 0.470 |
Why?
|
| Homozygote | 1 | 2016 | 772 | 0.460 |
Why?
|
| Intensive Care Units, Pediatric | 1 | 2017 | 474 | 0.450 |
Why?
|
| Microcephaly | 1 | 2016 | 333 | 0.440 |
Why?
|
| Oligonucleotides, Antisense | 1 | 2014 | 255 | 0.440 |
Why?
|
| Speech Disorders | 1 | 2013 | 85 | 0.440 |
Why?
|
| Phenotype | 8 | 2022 | 6503 | 0.350 |
Why?
|
| Genetic Association Studies | 3 | 2019 | 1099 | 0.340 |
Why?
|
| RNA, Long Noncoding | 1 | 2014 | 618 | 0.320 |
Why?
|
| Genomic Imprinting | 3 | 2014 | 199 | 0.310 |
Why?
|
| Intellectual Disability | 1 | 2013 | 1065 | 0.270 |
Why?
|
| Genetic Variation | 3 | 2021 | 2165 | 0.220 |
Why?
|
| Alleles | 4 | 2019 | 2590 | 0.220 |
Why?
|
| DNA Copy Number Variations | 2 | 2020 | 1552 | 0.210 |
Why?
|
| Laboratories | 1 | 2023 | 132 | 0.200 |
Why?
|
| Mutation | 4 | 2019 | 15901 | 0.200 |
Why?
|
| Genetic Predisposition to Disease | 3 | 2019 | 5775 | 0.190 |
Why?
|
| Micrognathism | 1 | 2021 | 68 | 0.190 |
Why?
|
| Gene Silencing | 2 | 2014 | 827 | 0.190 |
Why?
|
| Hand Deformities, Congenital | 1 | 2021 | 95 | 0.190 |
Why?
|
| INDEL Mutation | 1 | 2020 | 114 | 0.170 |
Why?
|
| N-Terminal Acetyltransferase A | 1 | 2019 | 14 | 0.170 |
Why?
|
| N-Terminal Acetyltransferase E | 1 | 2019 | 14 | 0.170 |
Why?
|
| Spastic Paraplegia, Hereditary | 1 | 2019 | 30 | 0.170 |
Why?
|
| High-Throughput Nucleotide Sequencing | 3 | 2019 | 2354 | 0.170 |
Why?
|
| Exons | 2 | 2020 | 1381 | 0.160 |
Why?
|
| Cataract | 1 | 2021 | 236 | 0.150 |
Why?
|
| Neurons | 3 | 2014 | 2453 | 0.150 |
Why?
|
| Artificial Intelligence | 1 | 2023 | 427 | 0.150 |
Why?
|
| Infant Care | 1 | 2017 | 46 | 0.150 |
Why?
|
| Mosaicism | 1 | 2019 | 293 | 0.140 |
Why?
|
| Survival of Motor Neuron 1 Protein | 1 | 2017 | 21 | 0.140 |
Why?
|
| Growth Charts | 1 | 2016 | 12 | 0.140 |
Why?
|
| Muscular Atrophy, Spinal | 1 | 2017 | 46 | 0.140 |
Why?
|
| Genetic Carrier Screening | 1 | 2017 | 101 | 0.140 |
Why?
|
| Codon | 1 | 2016 | 261 | 0.130 |
Why?
|
| Pedigree | 2 | 2019 | 2042 | 0.130 |
Why?
|
| Abnormalities, Multiple | 1 | 2021 | 1023 | 0.130 |
Why?
|
| Infant | 3 | 2021 | 13966 | 0.130 |
Why?
|
| Genetic Counseling | 1 | 2017 | 417 | 0.120 |
Why?
|
| Cells, Cultured | 2 | 2014 | 5694 | 0.120 |
Why?
|
| Sequence Analysis, DNA | 2 | 2019 | 2573 | 0.120 |
Why?
|
| Transcription, Genetic | 2 | 2013 | 3341 | 0.120 |
Why?
|
| Amino Acid Substitution | 1 | 2016 | 657 | 0.120 |
Why?
|
| Fetus | 1 | 2018 | 674 | 0.120 |
Why?
|
| Amino Acid Sequence | 1 | 2021 | 4569 | 0.120 |
Why?
|
| Fathers | 1 | 2014 | 71 | 0.120 |
Why?
|
| Stroke | 1 | 2022 | 1057 | 0.120 |
Why?
|
| Humans | 17 | 2023 | 270462 | 0.120 |
Why?
|
| Child, Preschool | 3 | 2021 | 17008 | 0.110 |
Why?
|
| Genetic Testing | 2 | 2019 | 1697 | 0.110 |
Why?
|
| Ultrasonography, Prenatal | 1 | 2018 | 922 | 0.110 |
Why?
|
| Metabolomics | 1 | 2016 | 504 | 0.110 |
Why?
|
| Epilepsy | 1 | 2021 | 947 | 0.110 |
Why?
|
| snRNP Core Proteins | 1 | 2012 | 9 | 0.100 |
Why?
|
| Retrospective Studies | 5 | 2023 | 39760 | 0.100 |
Why?
|
| Brain | 2 | 2016 | 4212 | 0.100 |
Why?
|
| Child | 5 | 2021 | 30500 | 0.100 |
Why?
|
| Mice, Inbred C57BL | 2 | 2014 | 7096 | 0.100 |
Why?
|
| Memory Disorders | 1 | 2014 | 288 | 0.100 |
Why?
|
| Disease Management | 1 | 2017 | 1089 | 0.100 |
Why?
|
| Software | 1 | 2019 | 1356 | 0.100 |
Why?
|
| Polyadenylation | 1 | 2012 | 67 | 0.100 |
Why?
|
| RNA Polymerase II | 1 | 2012 | 184 | 0.100 |
Why?
|
| Carrier Proteins | 1 | 2019 | 2099 | 0.090 |
Why?
|
| Critical Care | 1 | 2017 | 799 | 0.090 |
Why?
|
| Disease Models, Animal | 2 | 2014 | 7382 | 0.090 |
Why?
|
| DNA Mutational Analysis | 1 | 2016 | 2357 | 0.090 |
Why?
|
| Genome-Wide Association Study | 1 | 2019 | 2348 | 0.090 |
Why?
|
| Genome, Human | 1 | 2019 | 1885 | 0.090 |
Why?
|
| Length of Stay | 1 | 2017 | 2000 | 0.090 |
Why?
|
| Polymorphism, Single Nucleotide | 2 | 2019 | 4646 | 0.090 |
Why?
|
| Embryonic Stem Cells | 1 | 2012 | 278 | 0.090 |
Why?
|
| Adolescent | 3 | 2021 | 32693 | 0.090 |
Why?
|
| Mice | 3 | 2014 | 35574 | 0.080 |
Why?
|
| Prospective Studies | 1 | 2023 | 13396 | 0.070 |
Why?
|
| Biomarkers | 1 | 2019 | 5059 | 0.070 |
Why?
|
| Genetic Loci | 2 | 2019 | 501 | 0.070 |
Why?
|
| Texas | 1 | 2017 | 6433 | 0.070 |
Why?
|
| Promoter Regions, Genetic | 1 | 2012 | 3214 | 0.060 |
Why?
|
| Male | 6 | 2019 | 128209 | 0.060 |
Why?
|
| Adult | 3 | 2021 | 81851 | 0.060 |
Why?
|
| Infant, Newborn | 1 | 2017 | 8681 | 0.060 |
Why?
|
| Animals | 3 | 2014 | 62012 | 0.060 |
Why?
|
| Female | 6 | 2019 | 148723 | 0.050 |
Why?
|
| Molecular Targeted Therapy | 1 | 2013 | 2390 | 0.050 |
Why?
|
| Obesity | 1 | 2014 | 2904 | 0.050 |
Why?
|
| Time Factors | 1 | 2014 | 12996 | 0.050 |
Why?
|
| Enzyme Stability | 1 | 2019 | 110 | 0.040 |
Why?
|
| Chromosomal Proteins, Non-Histone | 1 | 2021 | 376 | 0.040 |
Why?
|
| Facies | 1 | 2019 | 160 | 0.040 |
Why?
|
| Actins | 1 | 2021 | 602 | 0.040 |
Why?
|
| Inheritance Patterns | 1 | 2018 | 136 | 0.040 |
Why?
|
| Age of Onset | 1 | 2019 | 853 | 0.040 |
Why?
|
| Structure-Activity Relationship | 1 | 2019 | 977 | 0.040 |
Why?
|
| Survival of Motor Neuron 2 Protein | 1 | 2017 | 13 | 0.040 |
Why?
|
| Protein Conformation | 1 | 2019 | 1255 | 0.030 |
Why?
|
| Enzyme Activation | 1 | 2019 | 1811 | 0.030 |
Why?
|
| Lymphocytes | 1 | 2019 | 1275 | 0.030 |
Why?
|
| Models, Molecular | 1 | 2019 | 1742 | 0.030 |
Why?
|
| Family | 1 | 2018 | 784 | 0.030 |
Why?
|
| Gene Dosage | 1 | 2017 | 823 | 0.030 |
Why?
|
| Recombinant Proteins | 1 | 2019 | 3027 | 0.030 |
Why?
|
| Computational Biology | 1 | 2019 | 1293 | 0.030 |
Why?
|
| Genotype | 1 | 2019 | 4252 | 0.020 |
Why?
|
| DNA-Binding Proteins | 1 | 2021 | 5001 | 0.020 |
Why?
|
| Sensitivity and Specificity | 1 | 2017 | 5171 | 0.020 |
Why?
|
| Reproducibility of Results | 1 | 2017 | 6190 | 0.020 |
Why?
|
| Young Adult | 1 | 2019 | 22178 | 0.010 |
Why?
|