Concepts (90)
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?
|
|---|
| Autoimmune Diseases of the Nervous System | 1 | 2024 | 33 | 0.880 |
Why?
|
| Calcinosis | 1 | 2024 | 171 | 0.810 |
Why?
|
| Nervous System Malformations | 1 | 2024 | 130 | 0.800 |
Why?
|
| Mitochondrial Diseases | 1 | 2024 | 135 | 0.790 |
Why?
|
| Intellectual Disability | 5 | 2022 | 1059 | 0.550 |
Why?
|
| Neurodevelopmental Disorders | 3 | 2023 | 504 | 0.410 |
Why?
|
| Outpatients | 2 | 2022 | 254 | 0.340 |
Why?
|
| Autism Spectrum Disorder | 3 | 2022 | 387 | 0.290 |
Why?
|
| Hernias, Diaphragmatic, Congenital | 2 | 2022 | 402 | 0.280 |
Why?
|
| Abnormalities, Multiple | 2 | 2022 | 962 | 0.250 |
Why?
|
| WD40 Repeats | 1 | 2024 | 8 | 0.230 |
Why?
|
| Amino Acyl-tRNA Synthetases | 1 | 2024 | 26 | 0.220 |
Why?
|
| Ciliopathies | 1 | 2024 | 10 | 0.220 |
Why?
|
| Genes, X-Linked | 1 | 2024 | 59 | 0.220 |
Why?
|
| Receptors, Glycine | 1 | 2022 | 16 | 0.200 |
Why?
|
| Micrognathism | 1 | 2022 | 66 | 0.190 |
Why?
|
| Charcot-Marie-Tooth Disease | 1 | 2023 | 199 | 0.190 |
Why?
|
| Hand Deformities, Congenital | 1 | 2022 | 89 | 0.190 |
Why?
|
| Musculoskeletal Abnormalities | 1 | 2021 | 72 | 0.180 |
Why?
|
| Dwarfism | 1 | 2021 | 101 | 0.180 |
Why?
|
| Megalencephaly | 1 | 2021 | 58 | 0.180 |
Why?
|
| Language Development Disorders | 1 | 2021 | 173 | 0.170 |
Why?
|
| Medicaid | 1 | 2022 | 243 | 0.170 |
Why?
|
| Scoliosis | 1 | 2021 | 135 | 0.170 |
Why?
|
| Carboxypeptidases | 1 | 2018 | 16 | 0.160 |
Why?
|
| Mediator Complex | 1 | 2019 | 52 | 0.160 |
Why?
|
| Spinocerebellar Degenerations | 1 | 2018 | 64 | 0.150 |
Why?
|
| Peripheral Nerves | 1 | 2018 | 85 | 0.150 |
Why?
|
| Autistic Disorder | 1 | 2022 | 352 | 0.150 |
Why?
|
| Diagnosis, Differential | 1 | 2024 | 1883 | 0.150 |
Why?
|
| Spine | 1 | 2018 | 143 | 0.150 |
Why?
|
| Motor Neurons | 1 | 2018 | 140 | 0.150 |
Why?
|
| Microcephaly | 1 | 2021 | 332 | 0.150 |
Why?
|
| Drosophila | 1 | 2022 | 781 | 0.140 |
Why?
|
| Purkinje Cells | 1 | 2018 | 158 | 0.140 |
Why?
|
| Brain | 2 | 2024 | 3001 | 0.120 |
Why?
|
| Cerebellum | 1 | 2018 | 417 | 0.120 |
Why?
|
| Infant | 3 | 2024 | 12454 | 0.110 |
Why?
|
| Mutation | 2 | 2024 | 5803 | 0.100 |
Why?
|
| DNA Helicases | 2 | 2023 | 225 | 0.090 |
Why?
|
| Genetic Testing | 3 | 2022 | 1007 | 0.090 |
Why?
|
| Humans | 13 | 2024 | 124243 | 0.090 |
Why?
|
| Heart Defects, Congenital | 1 | 2021 | 1813 | 0.080 |
Why?
|
| Male | 6 | 2024 | 60872 | 0.080 |
Why?
|
| DNA Copy Number Variations | 2 | 2022 | 942 | 0.070 |
Why?
|
| Seizures | 2 | 2021 | 877 | 0.060 |
Why?
|
| Developmental Disabilities | 2 | 2021 | 707 | 0.060 |
Why?
|
| Child | 5 | 2024 | 24468 | 0.060 |
Why?
|
| Dichlorodiphenyl Dichloroethylene | 1 | 2023 | 12 | 0.050 |
Why?
|
| Phenotype | 2 | 2024 | 4254 | 0.050 |
Why?
|
| Texas | 2 | 2022 | 3586 | 0.050 |
Why?
|
| DEAD-box RNA Helicases | 1 | 2023 | 121 | 0.050 |
Why?
|
| Mammals | 1 | 2023 | 260 | 0.050 |
Why?
|
| Syndrome | 1 | 2024 | 1118 | 0.050 |
Why?
|
| Child, Preschool | 3 | 2024 | 14043 | 0.050 |
Why?
|
| Animals | 4 | 2024 | 34147 | 0.050 |
Why?
|
| Diaphragm | 1 | 2022 | 99 | 0.050 |
Why?
|
| Neck | 1 | 2022 | 138 | 0.050 |
Why?
|
| Zebrafish | 1 | 2024 | 388 | 0.050 |
Why?
|
| Face | 1 | 2022 | 180 | 0.050 |
Why?
|
| Muscle Hypotonia | 1 | 2021 | 187 | 0.040 |
Why?
|
| Chromosomal Proteins, Non-Histone | 1 | 2022 | 213 | 0.040 |
Why?
|
| Transcription Factors | 2 | 2022 | 2605 | 0.040 |
Why?
|
| Failure to Thrive | 1 | 2021 | 90 | 0.040 |
Why?
|
| Chromosomes, Human, Pair 1 | 1 | 2021 | 139 | 0.040 |
Why?
|
| Haploinsufficiency | 1 | 2021 | 257 | 0.040 |
Why?
|
| Adolescent | 3 | 2024 | 19300 | 0.040 |
Why?
|
| Genetic Counseling | 1 | 2021 | 226 | 0.040 |
Why?
|
| Serine-Type D-Ala-D-Ala Carboxypeptidase | 1 | 2018 | 4 | 0.040 |
Why?
|
| Neoplasm Proteins | 1 | 2023 | 669 | 0.040 |
Why?
|
| Weight Gain | 1 | 2021 | 404 | 0.040 |
Why?
|
| Cognition | 1 | 2024 | 737 | 0.040 |
Why?
|
| Frameshift Mutation | 1 | 2019 | 176 | 0.040 |
Why?
|
| Cell Line | 1 | 2023 | 2770 | 0.040 |
Why?
|
| GTP-Binding Proteins | 1 | 2018 | 171 | 0.040 |
Why?
|
| Chromosome Deletion | 1 | 2021 | 648 | 0.040 |
Why?
|
| Pedigree | 1 | 2021 | 1595 | 0.030 |
Why?
|
| Sequence Deletion | 1 | 2019 | 528 | 0.030 |
Why?
|
| Protein Processing, Post-Translational | 1 | 2018 | 357 | 0.030 |
Why?
|
| Young Adult | 2 | 2021 | 8948 | 0.030 |
Why?
|
| Nuclear Proteins | 1 | 2022 | 1271 | 0.030 |
Why?
|
| Mice | 2 | 2023 | 17750 | 0.030 |
Why?
|
| Peptides | 1 | 2018 | 792 | 0.030 |
Why?
|
| Female | 4 | 2024 | 66269 | 0.030 |
Why?
|
| Exome | 1 | 2019 | 1042 | 0.030 |
Why?
|
| DNA-Binding Proteins | 1 | 2022 | 2056 | 0.030 |
Why?
|
| Retrospective Studies | 2 | 2022 | 16208 | 0.030 |
Why?
|
| Adult | 2 | 2024 | 29351 | 0.020 |
Why?
|
| Genetic Predisposition to Disease | 1 | 2022 | 3125 | 0.020 |
Why?
|
| United States | 1 | 2022 | 10754 | 0.020 |
Why?
|