Concepts (151)
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?
|
|---|
| Intellectual Disability | 6 | 2023 | 1032 | 0.970 |
Why?
|
| Ehlers-Danlos Syndrome | 1 | 2022 | 37 | 0.820 |
Why?
|
| Hearing Loss | 2 | 2019 | 153 | 0.670 |
Why?
|
| Collagen Type I | 1 | 2019 | 204 | 0.670 |
Why?
|
| Osteogenesis Imperfecta | 1 | 2019 | 140 | 0.630 |
Why?
|
| Collagen Type II | 1 | 2016 | 41 | 0.580 |
Why?
|
| Hip Joint | 1 | 2016 | 54 | 0.580 |
Why?
|
| Tibial Fractures | 1 | 2016 | 58 | 0.560 |
Why?
|
| Osteochondrodysplasias | 1 | 2016 | 77 | 0.560 |
Why?
|
| Genetic Association Studies | 2 | 2016 | 1084 | 0.520 |
Why?
|
| Phenotype | 8 | 2024 | 6295 | 0.520 |
Why?
|
| Growth Disorders | 1 | 2016 | 218 | 0.510 |
Why?
|
| Developmental Disabilities | 2 | 2018 | 674 | 0.500 |
Why?
|
| Mutation | 5 | 2022 | 15179 | 0.400 |
Why?
|
| Plasmapheresis | 1 | 2011 | 61 | 0.400 |
Why?
|
| Haploinsufficiency | 3 | 2022 | 294 | 0.400 |
Why?
|
| Hemolytic-Uremic Syndrome | 1 | 2011 | 69 | 0.390 |
Why?
|
| Microcephaly | 2 | 2024 | 325 | 0.380 |
Why?
|
| Peritoneal Dialysis | 1 | 2011 | 125 | 0.350 |
Why?
|
| Blood Transfusion | 1 | 2011 | 583 | 0.310 |
Why?
|
| Transcription Factors | 3 | 2018 | 5270 | 0.270 |
Why?
|
| Cardiomyopathies | 1 | 2011 | 610 | 0.260 |
Why?
|
| Neurodevelopmental Disorders | 2 | 2020 | 413 | 0.250 |
Why?
|
| Arginine-tRNA Ligase | 1 | 2024 | 9 | 0.240 |
Why?
|
| Mitochondrial Encephalomyopathies | 1 | 2023 | 26 | 0.240 |
Why?
|
| DNA-Binding Proteins | 4 | 2020 | 4821 | 0.230 |
Why?
|
| Acidosis, Lactic | 1 | 2023 | 33 | 0.230 |
Why?
|
| MELAS Syndrome | 1 | 2023 | 37 | 0.230 |
Why?
|
| Genotype | 4 | 2022 | 4109 | 0.230 |
Why?
|
| Goldenhar Syndrome | 1 | 2023 | 15 | 0.230 |
Why?
|
| Syndrome | 4 | 2020 | 1351 | 0.220 |
Why?
|
| Mutation, Missense | 3 | 2019 | 1152 | 0.220 |
Why?
|
| Collagen Type V | 1 | 2022 | 4 | 0.220 |
Why?
|
| Potassium Channels, Tandem Pore Domain | 1 | 2022 | 30 | 0.210 |
Why?
|
| Mitochondrial Diseases | 1 | 2024 | 137 | 0.210 |
Why?
|
| Receptor, Fibroblast Growth Factor, Type 5 | 1 | 2021 | 4 | 0.200 |
Why?
|
| Micrognathism | 2 | 2018 | 66 | 0.200 |
Why?
|
| Hand Deformities, Congenital | 2 | 2018 | 87 | 0.190 |
Why?
|
| Child, Preschool | 7 | 2023 | 16273 | 0.190 |
Why?
|
| SOXD Transcription Factors | 1 | 2019 | 6 | 0.180 |
Why?
|
| Brain Diseases | 1 | 2023 | 403 | 0.180 |
Why?
|
| Face | 2 | 2018 | 273 | 0.170 |
Why?
|
| North America | 1 | 2019 | 314 | 0.170 |
Why?
|
| Neck | 2 | 2018 | 383 | 0.170 |
Why?
|
| Collagen | 1 | 2022 | 752 | 0.170 |
Why?
|
| Histone Acetyltransferases | 1 | 2020 | 411 | 0.160 |
Why?
|
| Hernias, Diaphragmatic, Congenital | 1 | 2021 | 324 | 0.150 |
Why?
|
| Exome | 3 | 2016 | 1239 | 0.150 |
Why?
|
| Galactosyltransferases | 1 | 2016 | 10 | 0.140 |
Why?
|
| Mi-2 Nucleosome Remodeling and Deacetylase Complex | 1 | 2016 | 28 | 0.140 |
Why?
|
| Bone Diseases, Developmental | 1 | 2016 | 70 | 0.140 |
Why?
|
| Transforming Growth Factor beta | 1 | 2022 | 1130 | 0.140 |
Why?
|
| Chromosome Deletion | 1 | 2021 | 1005 | 0.140 |
Why?
|
| Behcet Syndrome | 1 | 2015 | 17 | 0.130 |
Why?
|
| Sinus Thrombosis, Intracranial | 1 | 2015 | 42 | 0.130 |
Why?
|
| Eye Abnormalities | 1 | 2016 | 118 | 0.130 |
Why?
|
| Child | 7 | 2024 | 29154 | 0.130 |
Why?
|
| Autoantigens | 1 | 2016 | 234 | 0.130 |
Why?
|
| Abnormalities, Multiple | 2 | 2018 | 998 | 0.130 |
Why?
|
| Stroke | 1 | 2023 | 1144 | 0.130 |
Why?
|
| Amino Acid Substitution | 1 | 2016 | 644 | 0.130 |
Why?
|
| Diagnosis, Differential | 2 | 2016 | 4744 | 0.130 |
Why?
|
| Adenosine Triphosphate | 1 | 2016 | 571 | 0.120 |
Why?
|
| Chromatin Assembly and Disassembly | 1 | 2016 | 287 | 0.120 |
Why?
|
| Alleles | 2 | 2016 | 2437 | 0.120 |
Why?
|
| Adaptor Proteins, Signal Transducing | 1 | 2020 | 1439 | 0.110 |
Why?
|
| Histones | 1 | 2020 | 1466 | 0.110 |
Why?
|
| Muscle Hypotonia | 2 | 2024 | 180 | 0.110 |
Why?
|
| Radiography | 1 | 2016 | 1904 | 0.100 |
Why?
|
| Heart Auscultation | 1 | 2011 | 10 | 0.100 |
Why?
|
| Adolescent | 4 | 2019 | 31252 | 0.100 |
Why?
|
| High-Throughput Nucleotide Sequencing | 2 | 2016 | 2291 | 0.090 |
Why?
|
| Humans | 16 | 2024 | 261506 | 0.090 |
Why?
|
| Male | 8 | 2024 | 123000 | 0.090 |
Why?
|
| Disease Models, Animal | 1 | 2022 | 7222 | 0.080 |
Why?
|
| Mice | 4 | 2023 | 34495 | 0.080 |
Why?
|
| Female | 8 | 2023 | 141928 | 0.080 |
Why?
|
| Pedigree | 2 | 2023 | 1890 | 0.080 |
Why?
|
| Animals | 5 | 2023 | 59536 | 0.070 |
Why?
|
| Echocardiography | 1 | 2011 | 1182 | 0.070 |
Why?
|
| Electrocardiography | 1 | 2011 | 1145 | 0.070 |
Why?
|
| Leukemia, Megakaryoblastic, Acute | 1 | 2005 | 47 | 0.070 |
Why?
|
| Infant | 2 | 2019 | 13310 | 0.060 |
Why?
|
| Centrioles | 1 | 2023 | 8 | 0.060 |
Why?
|
| Young Adult | 2 | 2019 | 21445 | 0.060 |
Why?
|
| Nitric Oxide Donors | 1 | 2023 | 51 | 0.060 |
Why?
|
| Oncogene Proteins | 1 | 2005 | 354 | 0.060 |
Why?
|
| Acute Kidney Injury | 1 | 2011 | 739 | 0.060 |
Why?
|
| Facial Asymmetry | 1 | 2023 | 22 | 0.060 |
Why?
|
| Citrulline | 1 | 2023 | 108 | 0.050 |
Why?
|
| Ion Channels | 1 | 2023 | 212 | 0.050 |
Why?
|
| Glutathione | 1 | 2023 | 368 | 0.050 |
Why?
|
| Arginine | 1 | 2023 | 500 | 0.050 |
Why?
|
| Disease Progression | 1 | 2011 | 6682 | 0.050 |
Why?
|
| Trans-Activators | 1 | 2005 | 1555 | 0.040 |
Why?
|
| Protein Interaction Domains and Motifs | 1 | 2020 | 280 | 0.040 |
Why?
|
| Acetylation | 1 | 2020 | 508 | 0.040 |
Why?
|
| Forkhead Transcription Factors | 1 | 2023 | 778 | 0.040 |
Why?
|
| Language Development Disorders | 1 | 2019 | 167 | 0.040 |
Why?
|
| Brain | 2 | 2023 | 4113 | 0.040 |
Why?
|
| Seizures | 1 | 2024 | 989 | 0.040 |
Why?
|
| Cell Cycle | 1 | 2023 | 2084 | 0.040 |
Why?
|
| Multiprotein Complexes | 1 | 2020 | 395 | 0.040 |
Why?
|
| Disease Susceptibility | 1 | 2020 | 538 | 0.040 |
Why?
|
| Histone Deacetylase 1 | 1 | 2016 | 62 | 0.040 |
Why?
|
| Corneal Opacity | 1 | 2016 | 23 | 0.040 |
Why?
|
| Adult | 2 | 2019 | 77950 | 0.040 |
Why?
|
| Coloboma | 1 | 2016 | 43 | 0.040 |
Why?
|
| Megalencephaly | 1 | 2016 | 56 | 0.040 |
Why?
|
| Follow-Up Studies | 1 | 2011 | 14889 | 0.030 |
Why?
|
| Genetic Predisposition to Disease | 2 | 2020 | 5539 | 0.030 |
Why?
|
| Facies | 1 | 2016 | 149 | 0.030 |
Why?
|
| Genes, Recessive | 1 | 2016 | 200 | 0.030 |
Why?
|
| Protein Processing, Post-Translational | 1 | 2020 | 803 | 0.030 |
Why?
|
| Proteins | 1 | 2023 | 1963 | 0.030 |
Why?
|
| Cataract | 1 | 2016 | 218 | 0.030 |
Why?
|
| DNA Helicases | 1 | 2016 | 434 | 0.030 |
Why?
|
| DNA Mutational Analysis | 1 | 2020 | 2283 | 0.030 |
Why?
|
| Neoplasms | 1 | 2020 | 15193 | 0.030 |
Why?
|
| Amino Acid Sequence | 1 | 2020 | 4233 | 0.030 |
Why?
|
| Protein Binding | 1 | 2020 | 3438 | 0.030 |
Why?
|
| Middle Aged | 1 | 2019 | 86204 | 0.030 |
Why?
|
| Cell Line | 1 | 2020 | 5114 | 0.030 |
Why?
|
| Cell Nucleus | 1 | 2016 | 1620 | 0.020 |
Why?
|
| Models, Biological | 1 | 2020 | 3254 | 0.020 |
Why?
|
| Mice, Knockout | 1 | 2020 | 5710 | 0.020 |
Why?
|
| Anticoagulants | 1 | 2015 | 787 | 0.020 |
Why?
|
| Immunosuppressive Agents | 1 | 2015 | 1375 | 0.020 |
Why?
|
| Infant, Newborn | 1 | 2021 | 8223 | 0.020 |
Why?
|
| Predictive Value of Tests | 1 | 2015 | 4892 | 0.020 |
Why?
|
| Erythroid-Specific DNA-Binding Factors | 1 | 2005 | 13 | 0.020 |
Why?
|
| T-Cell Acute Lymphocytic Leukemia Protein 1 | 1 | 2005 | 9 | 0.020 |
Why?
|
| GATA1 Transcription Factor | 1 | 2005 | 16 | 0.020 |
Why?
|
| Age Factors | 1 | 2015 | 5377 | 0.020 |
Why?
|
| Transcriptional Regulator ERG | 1 | 2005 | 61 | 0.020 |
Why?
|
| Chromosomes, Human, Pair 21 | 1 | 2005 | 104 | 0.020 |
Why?
|
| Nuclear Proteins | 1 | 2016 | 3343 | 0.020 |
Why?
|
| Leukemia, Erythroblastic, Acute | 1 | 2005 | 118 | 0.020 |
Why?
|
| K562 Cells | 1 | 2005 | 338 | 0.020 |
Why?
|
| Magnetic Resonance Imaging | 1 | 2020 | 7702 | 0.010 |
Why?
|
| Prognosis | 1 | 2021 | 21713 | 0.010 |
Why?
|
| Cell Lineage | 1 | 2005 | 668 | 0.010 |
Why?
|
| HeLa Cells | 1 | 2005 | 1643 | 0.010 |
Why?
|
| Basic Helix-Loop-Helix Transcription Factors | 1 | 2005 | 622 | 0.010 |
Why?
|
| Hematopoietic Stem Cells | 1 | 2005 | 1242 | 0.010 |
Why?
|
| Base Sequence | 1 | 2005 | 4917 | 0.010 |
Why?
|
| Risk Factors | 1 | 2015 | 17523 | 0.010 |
Why?
|
| Promoter Regions, Genetic | 1 | 2005 | 3101 | 0.010 |
Why?
|
| Molecular Sequence Data | 1 | 2005 | 6089 | 0.010 |
Why?
|
| Proto-Oncogene Proteins | 1 | 2005 | 2488 | 0.010 |
Why?
|
| Treatment Outcome | 1 | 2015 | 32848 | 0.010 |
Why?
|