Concepts (97)
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 | 36 | 0.840 |
Why?
|
| Calcinosis | 1 | 2024 | 191 | 0.760 |
Why?
|
| Nervous System Malformations | 1 | 2024 | 132 | 0.760 |
Why?
|
| Mitochondrial Diseases | 1 | 2024 | 150 | 0.750 |
Why?
|
| Intellectual Disability | 6 | 2025 | 1093 | 0.660 |
Why?
|
| Neurodevelopmental Disorders | 3 | 2023 | 551 | 0.380 |
Why?
|
| Outpatients | 2 | 2022 | 275 | 0.320 |
Why?
|
| Autism Spectrum Disorder | 3 | 2022 | 430 | 0.280 |
Why?
|
| Hernias, Diaphragmatic, Congenital | 2 | 2022 | 426 | 0.270 |
Why?
|
| Abnormalities, Multiple | 2 | 2022 | 983 | 0.240 |
Why?
|
| WD40 Repeats | 1 | 2024 | 8 | 0.210 |
Why?
|
| Amino Acyl-tRNA Synthetases | 1 | 2024 | 26 | 0.210 |
Why?
|
| Ciliopathies | 1 | 2024 | 10 | 0.210 |
Why?
|
| Genes, X-Linked | 1 | 2024 | 64 | 0.210 |
Why?
|
| Gene Duplication | 1 | 2025 | 371 | 0.200 |
Why?
|
| Ubiquitin-Protein Ligases | 1 | 2025 | 378 | 0.190 |
Why?
|
| Receptors, Glycine | 1 | 2022 | 17 | 0.190 |
Why?
|
| Basic Helix-Loop-Helix Transcription Factors | 1 | 2024 | 381 | 0.190 |
Why?
|
| Micrognathism | 1 | 2022 | 67 | 0.180 |
Why?
|
| Syndrome | 1 | 2024 | 1171 | 0.180 |
Why?
|
| Hand Deformities, Congenital | 1 | 2022 | 94 | 0.180 |
Why?
|
| Charcot-Marie-Tooth Disease | 1 | 2023 | 239 | 0.180 |
Why?
|
| Musculoskeletal Abnormalities | 1 | 2021 | 72 | 0.170 |
Why?
|
| Dwarfism | 1 | 2021 | 104 | 0.170 |
Why?
|
| Megalencephaly | 1 | 2021 | 60 | 0.170 |
Why?
|
| Language Development Disorders | 1 | 2021 | 179 | 0.160 |
Why?
|
| Medicaid | 1 | 2022 | 247 | 0.160 |
Why?
|
| Scoliosis | 1 | 2021 | 143 | 0.160 |
Why?
|
| Carboxypeptidases | 1 | 2018 | 19 | 0.150 |
Why?
|
| Mediator Complex | 1 | 2019 | 63 | 0.150 |
Why?
|
| Spinocerebellar Degenerations | 1 | 2018 | 64 | 0.150 |
Why?
|
| Peripheral Nerves | 1 | 2018 | 88 | 0.140 |
Why?
|
| Diagnosis, Differential | 1 | 2024 | 1964 | 0.140 |
Why?
|
| Autistic Disorder | 1 | 2022 | 387 | 0.140 |
Why?
|
| Spine | 1 | 2018 | 146 | 0.140 |
Why?
|
| Microcephaly | 1 | 2021 | 354 | 0.140 |
Why?
|
| Motor Neurons | 1 | 2018 | 134 | 0.140 |
Why?
|
| Drosophila | 1 | 2022 | 822 | 0.130 |
Why?
|
| Purkinje Cells | 1 | 2018 | 165 | 0.130 |
Why?
|
| Brain | 2 | 2024 | 3197 | 0.110 |
Why?
|
| Cerebellum | 1 | 2018 | 463 | 0.110 |
Why?
|
| Infant | 3 | 2024 | 13192 | 0.110 |
Why?
|
| DNA Copy Number Variations | 3 | 2025 | 1035 | 0.100 |
Why?
|
| Developmental Disabilities | 3 | 2025 | 749 | 0.100 |
Why?
|
| Mutation | 2 | 2024 | 6248 | 0.090 |
Why?
|
| Humans | 14 | 2025 | 132336 | 0.090 |
Why?
|
| DNA Helicases | 2 | 2023 | 241 | 0.090 |
Why?
|
| Genetic Testing | 3 | 2022 | 1098 | 0.080 |
Why?
|
| Phenotype | 3 | 2025 | 4545 | 0.080 |
Why?
|
| Heart Defects, Congenital | 1 | 2021 | 1867 | 0.080 |
Why?
|
| Male | 6 | 2024 | 65054 | 0.070 |
Why?
|
| Child | 6 | 2025 | 25823 | 0.070 |
Why?
|
| Seizures | 2 | 2021 | 895 | 0.060 |
Why?
|
| Dichlorodiphenyl Dichloroethylene | 1 | 2023 | 14 | 0.050 |
Why?
|
| Loss of Function Mutation | 1 | 2024 | 160 | 0.050 |
Why?
|
| Texas | 2 | 2022 | 3628 | 0.050 |
Why?
|
| DEAD-box RNA Helicases | 1 | 2023 | 147 | 0.050 |
Why?
|
| Exons | 1 | 2025 | 803 | 0.050 |
Why?
|
| Mammals | 1 | 2023 | 272 | 0.050 |
Why?
|
| Child, Preschool | 3 | 2024 | 14853 | 0.040 |
Why?
|
| Diaphragm | 1 | 2022 | 98 | 0.040 |
Why?
|
| Animals | 4 | 2024 | 34989 | 0.040 |
Why?
|
| Neck | 1 | 2022 | 142 | 0.040 |
Why?
|
| Zebrafish | 1 | 2024 | 420 | 0.040 |
Why?
|
| Transcription Factors | 2 | 2022 | 2494 | 0.040 |
Why?
|
| Face | 1 | 2022 | 189 | 0.040 |
Why?
|
| Chromosomal Proteins, Non-Histone | 1 | 2022 | 201 | 0.040 |
Why?
|
| Muscle Hypotonia | 1 | 2021 | 200 | 0.040 |
Why?
|
| Failure to Thrive | 1 | 2021 | 93 | 0.040 |
Why?
|
| Chromosomes, Human, Pair 1 | 1 | 2021 | 150 | 0.040 |
Why?
|
| Haploinsufficiency | 1 | 2021 | 270 | 0.040 |
Why?
|
| Carrier Proteins | 1 | 2025 | 1049 | 0.040 |
Why?
|
| Adolescent | 3 | 2024 | 20552 | 0.040 |
Why?
|
| Genetic Counseling | 1 | 2021 | 246 | 0.040 |
Why?
|
| Serine-Type D-Ala-D-Ala Carboxypeptidase | 1 | 2018 | 4 | 0.040 |
Why?
|
| Neoplasm Proteins | 1 | 2023 | 701 | 0.040 |
Why?
|
| Weight Gain | 1 | 2021 | 408 | 0.040 |
Why?
|
| Cognition | 1 | 2024 | 814 | 0.040 |
Why?
|
| Frameshift Mutation | 1 | 2019 | 201 | 0.040 |
Why?
|
| Female | 5 | 2025 | 70788 | 0.040 |
Why?
|
| Cell Line | 1 | 2023 | 2730 | 0.040 |
Why?
|
| GTP-Binding Proteins | 1 | 2018 | 173 | 0.040 |
Why?
|
| Chromosome Deletion | 1 | 2021 | 657 | 0.030 |
Why?
|
| Pedigree | 1 | 2021 | 1725 | 0.030 |
Why?
|
| Sequence Deletion | 1 | 2019 | 527 | 0.030 |
Why?
|
| Genomics | 1 | 2025 | 1652 | 0.030 |
Why?
|
| Protein Processing, Post-Translational | 1 | 2018 | 365 | 0.030 |
Why?
|
| Nuclear Proteins | 1 | 2022 | 1285 | 0.030 |
Why?
|
| Young Adult | 2 | 2021 | 9945 | 0.030 |
Why?
|
| Mice | 2 | 2023 | 18571 | 0.030 |
Why?
|
| Peptides | 1 | 2018 | 847 | 0.030 |
Why?
|
| Exome | 1 | 2019 | 1086 | 0.030 |
Why?
|
| DNA-Binding Proteins | 1 | 2022 | 1997 | 0.030 |
Why?
|
| Retrospective Studies | 2 | 2022 | 17363 | 0.030 |
Why?
|
| Adult | 2 | 2024 | 31618 | 0.020 |
Why?
|
| Genetic Predisposition to Disease | 1 | 2022 | 3358 | 0.020 |
Why?
|
| United States | 1 | 2022 | 11628 | 0.020 |
Why?
|