Concepts (120)
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?
|
|---|
| Muscle Hypotonia | 2 | 2023 | 180 | 0.870 |
Why?
|
| Muscular Diseases | 1 | 2022 | 161 | 0.810 |
Why?
|
| Laboratories | 3 | 2023 | 145 | 0.710 |
Why?
|
| Genetic Diseases, Inborn | 5 | 2021 | 442 | 0.640 |
Why?
|
| Certification | 1 | 2019 | 123 | 0.620 |
Why?
|
| Rare Diseases | 2 | 2023 | 351 | 0.350 |
Why?
|
| Exome | 5 | 2023 | 1239 | 0.270 |
Why?
|
| Phenotype | 6 | 2023 | 6295 | 0.250 |
Why?
|
| Intellectual Disability | 2 | 2023 | 1032 | 0.250 |
Why?
|
| DNA Copy Number Variations | 2 | 2022 | 1516 | 0.250 |
Why?
|
| Osteogenesis Imperfecta | 2 | 2023 | 140 | 0.240 |
Why?
|
| Sertoli-Leydig Cell Tumor | 1 | 2022 | 19 | 0.210 |
Why?
|
| Exons | 2 | 2022 | 1328 | 0.200 |
Why?
|
| Chromosomal Proteins, Non-Histone | 2 | 2021 | 362 | 0.200 |
Why?
|
| Micrognathism | 1 | 2021 | 66 | 0.200 |
Why?
|
| Aniridia | 1 | 2021 | 17 | 0.200 |
Why?
|
| Hand Deformities, Congenital | 1 | 2021 | 87 | 0.190 |
Why?
|
| Inositol 1,4,5-Trisphosphate Receptors | 1 | 2021 | 49 | 0.190 |
Why?
|
| Ribonuclease III | 1 | 2022 | 182 | 0.190 |
Why?
|
| Calcineurin | 1 | 2021 | 128 | 0.190 |
Why?
|
| Movement Disorders | 1 | 2023 | 232 | 0.190 |
Why?
|
| Sudden Infant Death | 1 | 2020 | 33 | 0.190 |
Why?
|
| Cerebellar Ataxia | 1 | 2021 | 72 | 0.190 |
Why?
|
| INDEL Mutation | 1 | 2020 | 112 | 0.180 |
Why?
|
| DEAD-box RNA Helicases | 1 | 2022 | 255 | 0.180 |
Why?
|
| Introns | 1 | 2021 | 432 | 0.180 |
Why?
|
| Developmental Disabilities | 2 | 2023 | 674 | 0.180 |
Why?
|
| Mutation | 5 | 2022 | 15179 | 0.170 |
Why?
|
| Neurodevelopmental Disorders | 1 | 2023 | 413 | 0.160 |
Why?
|
| Autism Spectrum Disorder | 1 | 2023 | 363 | 0.160 |
Why?
|
| Technology | 1 | 2019 | 96 | 0.160 |
Why?
|
| Abnormalities, Multiple | 2 | 2021 | 998 | 0.160 |
Why?
|
| Ultrasonography, Prenatal | 2 | 2019 | 830 | 0.140 |
Why?
|
| Genetic Association Studies | 1 | 2021 | 1084 | 0.140 |
Why?
|
| Testis | 1 | 2020 | 717 | 0.140 |
Why?
|
| Mutation, Missense | 1 | 2020 | 1152 | 0.130 |
Why?
|
| Skin | 1 | 2021 | 1259 | 0.130 |
Why?
|
| Fetus | 1 | 2018 | 601 | 0.130 |
Why?
|
| Sequence Analysis, DNA | 2 | 2019 | 2483 | 0.120 |
Why?
|
| Intensive Care Units, Pediatric | 1 | 2017 | 441 | 0.120 |
Why?
|
| Fibroblasts | 1 | 2021 | 1682 | 0.120 |
Why?
|
| Epilepsy | 1 | 2021 | 883 | 0.110 |
Why?
|
| Tumor Suppressor Proteins | 1 | 2020 | 1823 | 0.110 |
Why?
|
| Infant | 3 | 2022 | 13310 | 0.100 |
Why?
|
| Genomics | 1 | 2022 | 2738 | 0.100 |
Why?
|
| Genetic Testing | 1 | 2019 | 1589 | 0.100 |
Why?
|
| Retrospective Studies | 6 | 2023 | 37905 | 0.100 |
Why?
|
| Nuclear Proteins | 1 | 2020 | 3343 | 0.080 |
Why?
|
| Humans | 17 | 2023 | 261506 | 0.080 |
Why?
|
| Genetic Predisposition to Disease | 1 | 2021 | 5539 | 0.080 |
Why?
|
| Ovarian Neoplasms | 1 | 2022 | 4638 | 0.070 |
Why?
|
| United States | 2 | 2019 | 15433 | 0.060 |
Why?
|
| Child, Preschool | 4 | 2021 | 16273 | 0.060 |
Why?
|
| NIH 3T3 Cells | 1 | 2023 | 260 | 0.060 |
Why?
|
| Child | 5 | 2023 | 29154 | 0.060 |
Why?
|
| Gait | 1 | 2023 | 165 | 0.050 |
Why?
|
| Caenorhabditis elegans | 1 | 2023 | 268 | 0.050 |
Why?
|
| Homologous Recombination | 1 | 2022 | 185 | 0.050 |
Why?
|
| Amish | 1 | 2020 | 9 | 0.050 |
Why?
|
| Facies | 1 | 2021 | 149 | 0.050 |
Why?
|
| Genes, Dominant | 1 | 2020 | 331 | 0.040 |
Why?
|
| Zebrafish Proteins | 1 | 2020 | 163 | 0.040 |
Why?
|
| Thanatophoric Dysplasia | 1 | 2019 | 6 | 0.040 |
Why?
|
| Lymphangioma, Cystic | 1 | 2019 | 20 | 0.040 |
Why?
|
| Whole Genome Sequencing | 1 | 2021 | 338 | 0.040 |
Why?
|
| Nuchal Translucency Measurement | 1 | 2019 | 25 | 0.040 |
Why?
|
| Acrocephalosyndactylia | 1 | 2019 | 17 | 0.040 |
Why?
|
| Achondroplasia | 1 | 2019 | 21 | 0.040 |
Why?
|
| Haploinsufficiency | 1 | 2020 | 294 | 0.040 |
Why?
|
| Neuroglia | 1 | 2020 | 223 | 0.040 |
Why?
|
| De Lange Syndrome | 1 | 2019 | 43 | 0.040 |
Why?
|
| Symptom Assessment | 1 | 2021 | 267 | 0.040 |
Why?
|
| Genetics | 1 | 2019 | 27 | 0.040 |
Why?
|
| Hydrops Fetalis | 1 | 2019 | 66 | 0.040 |
Why?
|
| Artificial Intelligence | 1 | 2023 | 388 | 0.040 |
Why?
|
| Actins | 1 | 2021 | 608 | 0.040 |
Why?
|
| Drug Resistant Epilepsy | 1 | 2021 | 181 | 0.040 |
Why?
|
| Microscopy, Confocal | 1 | 2020 | 663 | 0.040 |
Why?
|
| Down-Regulation | 1 | 2023 | 2074 | 0.040 |
Why?
|
| Inheritance Patterns | 1 | 2018 | 139 | 0.040 |
Why?
|
| Infant Care | 1 | 2017 | 48 | 0.040 |
Why?
|
| Collagen Type I | 1 | 2019 | 204 | 0.040 |
Why?
|
| Zebrafish | 1 | 2020 | 463 | 0.040 |
Why?
|
| Sequence Analysis, RNA | 1 | 2021 | 651 | 0.040 |
Why?
|
| Seizures | 1 | 2023 | 989 | 0.040 |
Why?
|
| TOR Serine-Threonine Kinases | 1 | 2023 | 1546 | 0.040 |
Why?
|
| Cell-Free Nucleic Acids | 1 | 2019 | 224 | 0.040 |
Why?
|
| Proteomics | 1 | 2023 | 1380 | 0.030 |
Why?
|
| Adolescent | 3 | 2021 | 31252 | 0.030 |
Why?
|
| Infant, Newborn | 2 | 2020 | 8223 | 0.030 |
Why?
|
| Base Sequence | 1 | 2022 | 4917 | 0.030 |
Why?
|
| Genetic Counseling | 1 | 2017 | 380 | 0.030 |
Why?
|
| Bone and Bones | 1 | 2019 | 619 | 0.030 |
Why?
|
| Female | 6 | 2022 | 141928 | 0.030 |
Why?
|
| Carrier Proteins | 1 | 2023 | 2022 | 0.030 |
Why?
|
| DNA Mutational Analysis | 1 | 2021 | 2283 | 0.030 |
Why?
|
| Alleles | 1 | 2021 | 2437 | 0.030 |
Why?
|
| Prenatal Diagnosis | 1 | 2019 | 590 | 0.030 |
Why?
|
| Drosophila melanogaster | 1 | 2020 | 829 | 0.030 |
Why?
|
| Family | 1 | 2018 | 736 | 0.030 |
Why?
|
| Drosophila Proteins | 1 | 2020 | 858 | 0.030 |
Why?
|
| Protein Binding | 1 | 2020 | 3438 | 0.030 |
Why?
|
| Gene Expression | 1 | 2021 | 3570 | 0.030 |
Why?
|
| Genetic Variation | 1 | 2020 | 2086 | 0.030 |
Why?
|
| Disease Management | 1 | 2017 | 1052 | 0.030 |
Why?
|
| Critical Care | 1 | 2017 | 770 | 0.030 |
Why?
|
| Male | 4 | 2021 | 123000 | 0.020 |
Why?
|
| Length of Stay | 1 | 2017 | 1900 | 0.020 |
Why?
|
| Predictive Value of Tests | 1 | 2019 | 4892 | 0.020 |
Why?
|
| Neurons | 1 | 2020 | 2287 | 0.020 |
Why?
|
| High-Throughput Nucleotide Sequencing | 1 | 2019 | 2291 | 0.020 |
Why?
|
| Adult | 3 | 2021 | 77950 | 0.020 |
Why?
|
| DNA-Binding Proteins | 1 | 2021 | 4821 | 0.020 |
Why?
|
| Prospective Studies | 1 | 2023 | 12873 | 0.020 |
Why?
|
| Animals | 2 | 2023 | 59536 | 0.020 |
Why?
|
| Texas | 1 | 2017 | 6311 | 0.020 |
Why?
|
| Pregnancy | 1 | 2019 | 7573 | 0.020 |
Why?
|
| Signal Transduction | 1 | 2023 | 11965 | 0.020 |
Why?
|
| Magnetic Resonance Imaging | 1 | 2021 | 7702 | 0.020 |
Why?
|
| Mice | 1 | 2023 | 34495 | 0.010 |
Why?
|