| Name |
Number of Publications
|
Most Recent Publication
|
Publications by All Authors
|
Concept Score
|
Why?
|
|---|
| DNA Copy Number Variations | 6 | 2024 | 941 | 1.200 |
Why?
|
| Whole Genome Sequencing | 4 | 2024 | 286 | 0.970 |
Why?
|
| Muscle Hypotonia | 5 | 2024 | 185 | 0.950 |
Why?
|
| Scleroderma, Systemic | 1 | 2024 | 117 | 0.860 |
Why?
|
| Muscular Diseases | 1 | 2022 | 102 | 0.780 |
Why?
|
| Certification | 2 | 2019 | 67 | 0.760 |
Why?
|
| Uniparental Disomy | 1 | 2021 | 49 | 0.740 |
Why?
|
| Laboratories | 3 | 2023 | 83 | 0.690 |
Why?
|
| Chromosome Disorders | 1 | 2021 | 309 | 0.650 |
Why?
|
| Genetic Predisposition to Disease | 5 | 2024 | 3084 | 0.610 |
Why?
|
| Genetic Diseases, Inborn | 5 | 2021 | 448 | 0.610 |
Why?
|
| Genome-Wide Association Study | 1 | 2024 | 1641 | 0.560 |
Why?
|
| Mutation | 13 | 2024 | 5773 | 0.500 |
Why?
|
| Polymorphism, Single Nucleotide | 1 | 2024 | 2586 | 0.500 |
Why?
|
| Intellectual Disability | 4 | 2024 | 1042 | 0.500 |
Why?
|
| Epilepsy | 4 | 2024 | 858 | 0.490 |
Why?
|
| Neurodevelopmental Disorders | 3 | 2025 | 485 | 0.480 |
Why?
|
| Exome | 8 | 2024 | 1041 | 0.390 |
Why?
|
| Phenotype | 10 | 2024 | 4228 | 0.380 |
Why?
|
| Microcephaly | 3 | 2025 | 328 | 0.370 |
Why?
|
| Rare Diseases | 2 | 2023 | 185 | 0.360 |
Why?
|
| Genetic Association Studies | 4 | 2024 | 761 | 0.340 |
Why?
|
| Fibroblasts | 3 | 2024 | 878 | 0.340 |
Why?
|
| Germ-Line Mutation | 2 | 2024 | 313 | 0.310 |
Why?
|
| Hernias, Diaphragmatic, Congenital | 2 | 2024 | 391 | 0.310 |
Why?
|
| Mitochondrial Proteins | 3 | 2018 | 239 | 0.300 |
Why?
|
| Autism Spectrum Disorder | 2 | 2023 | 378 | 0.290 |
Why?
|
| DNA-Binding Proteins | 5 | 2024 | 2047 | 0.280 |
Why?
|
| Humans | 40 | 2025 | 123169 | 0.270 |
Why?
|
| DNA, Mitochondrial | 2 | 2018 | 211 | 0.270 |
Why?
|
| Mitochondrial Diseases | 2 | 2018 | 135 | 0.270 |
Why?
|
| Exons | 3 | 2022 | 794 | 0.250 |
Why?
|
| Genetic Testing | 3 | 2024 | 995 | 0.240 |
Why?
|
| Spindle Apparatus | 1 | 2025 | 63 | 0.240 |
Why?
|
| Glutarates | 1 | 2024 | 37 | 0.240 |
Why?
|
| NIMA-Related Kinases | 1 | 2024 | 13 | 0.240 |
Why?
|
| Zebrafish | 2 | 2025 | 386 | 0.240 |
Why?
|
| Chromosome Inversion | 1 | 2024 | 76 | 0.230 |
Why?
|
| Cryptorchidism | 1 | 2024 | 37 | 0.230 |
Why?
|
| Mediator Complex | 1 | 2024 | 53 | 0.230 |
Why?
|
| Osteogenesis Imperfecta | 2 | 2023 | 148 | 0.220 |
Why?
|
| Medically Underserved Area | 1 | 2024 | 92 | 0.220 |
Why?
|
| TRPP Cation Channels | 1 | 2023 | 4 | 0.220 |
Why?
|
| Muscular Dystrophy, Duchenne | 1 | 2024 | 63 | 0.220 |
Why?
|
| Pedigree | 3 | 2022 | 1584 | 0.220 |
Why?
|
| Polycystic Kidney, Autosomal Dominant | 1 | 2023 | 16 | 0.220 |
Why?
|
| Metabolism, Inborn Errors | 1 | 2024 | 113 | 0.220 |
Why?
|
| Genes, Dominant | 2 | 2020 | 248 | 0.210 |
Why?
|
| Calcium Channels, N-Type | 1 | 2022 | 24 | 0.200 |
Why?
|
| Chromosomal Proteins, Non-Histone | 2 | 2021 | 214 | 0.200 |
Why?
|
| Epilepsy, Generalized | 1 | 2023 | 64 | 0.200 |
Why?
|
| Pulmonary Surfactant-Associated Proteins | 1 | 2022 | 5 | 0.200 |
Why?
|
| Infant | 8 | 2024 | 12348 | 0.200 |
Why?
|
| Pulmonary Surfactant-Associated Protein C | 1 | 2022 | 5 | 0.200 |
Why?
|
| rab5 GTP-Binding Proteins | 1 | 2022 | 12 | 0.200 |
Why?
|
| RNA, Long Noncoding | 1 | 2024 | 207 | 0.200 |
Why?
|
| Sertoli-Leydig Cell Tumor | 1 | 2022 | 16 | 0.200 |
Why?
|
| Child, Preschool | 11 | 2025 | 13887 | 0.190 |
Why?
|
| Abnormalities, Multiple | 3 | 2024 | 964 | 0.190 |
Why?
|
| Micrognathism | 1 | 2021 | 65 | 0.190 |
Why?
|
| Metabolomics | 1 | 2024 | 409 | 0.190 |
Why?
|
| Ribonuclease III | 1 | 2022 | 87 | 0.190 |
Why?
|
| Aniridia | 1 | 2021 | 12 | 0.190 |
Why?
|
| Protein Precursors | 1 | 2022 | 149 | 0.190 |
Why?
|
| Female | 20 | 2025 | 65500 | 0.190 |
Why?
|
| Inositol 1,4,5-Trisphosphate Receptors | 1 | 2021 | 35 | 0.190 |
Why?
|
| DEAD-box RNA Helicases | 1 | 2022 | 118 | 0.180 |
Why?
|
| Hand Deformities, Congenital | 1 | 2021 | 89 | 0.180 |
Why?
|
| Calcineurin | 1 | 2021 | 100 | 0.180 |
Why?
|
| Movement Disorders | 1 | 2023 | 221 | 0.180 |
Why?
|
| Male | 17 | 2025 | 60082 | 0.180 |
Why?
|
| Cerebellar Ataxia | 1 | 2021 | 65 | 0.180 |
Why?
|
| Cytokine Receptor gp130 | 1 | 2020 | 13 | 0.180 |
Why?
|
| Sudden Infant Death | 1 | 2020 | 33 | 0.180 |
Why?
|
| Mutation, Missense | 2 | 2025 | 847 | 0.170 |
Why?
|
| Job Syndrome | 1 | 2020 | 17 | 0.170 |
Why?
|
| Introns | 1 | 2021 | 302 | 0.170 |
Why?
|
| Child | 14 | 2025 | 24237 | 0.170 |
Why?
|
| INDEL Mutation | 1 | 2020 | 88 | 0.170 |
Why?
|
| Developmental Disabilities | 2 | 2023 | 699 | 0.160 |
Why?
|
| Health Services Accessibility | 1 | 2024 | 594 | 0.160 |
Why?
|
| Mitochondria | 3 | 2018 | 677 | 0.160 |
Why?
|
| Phenylalanine-tRNA Ligase | 1 | 2018 | 3 | 0.160 |
Why?
|
| Technology | 1 | 2019 | 64 | 0.150 |
Why?
|
| Microarray Analysis | 1 | 2019 | 231 | 0.150 |
Why?
|
| Telemedicine | 1 | 2024 | 426 | 0.150 |
Why?
|
| Amino Acyl-tRNA Synthetases | 1 | 2018 | 27 | 0.150 |
Why?
|
| Education | 1 | 2019 | 105 | 0.150 |
Why?
|
| Testis | 1 | 2020 | 405 | 0.150 |
Why?
|
| Genomics | 2 | 2024 | 1477 | 0.150 |
Why?
|
| Genetic Variation | 2 | 2022 | 1480 | 0.150 |
Why?
|
| Heredodegenerative Disorders, Nervous System | 1 | 2018 | 11 | 0.150 |
Why?
|
| DNA Methylation | 1 | 2024 | 987 | 0.150 |
Why?
|
| Ovarian Neoplasms | 1 | 2022 | 407 | 0.150 |
Why?
|
| DNA Mutational Analysis | 2 | 2021 | 793 | 0.150 |
Why?
|
| Genome, Human | 1 | 2024 | 1267 | 0.150 |
Why?
|
| Tumor Suppressor Proteins | 1 | 2020 | 467 | 0.150 |
Why?
|
| Skin | 1 | 2021 | 505 | 0.150 |
Why?
|
| F-Box Proteins | 1 | 2017 | 34 | 0.150 |
Why?
|
| Mitochondrial Encephalomyopathies | 1 | 2017 | 27 | 0.140 |
Why?
|
| Retrospective Studies | 7 | 2024 | 16021 | 0.140 |
Why?
|
| Peripheral Nervous System Diseases | 1 | 2018 | 128 | 0.140 |
Why?
|
| Ultrasonography, Prenatal | 2 | 2019 | 906 | 0.130 |
Why?
|
| Sequence Analysis, DNA | 2 | 2019 | 1758 | 0.130 |
Why?
|
| Multiplex Polymerase Chain Reaction | 1 | 2015 | 29 | 0.130 |
Why?
|
| DNA Repair Enzymes | 1 | 2015 | 40 | 0.120 |
Why?
|
| Colorectal Neoplasms, Hereditary Nonpolyposis | 1 | 2015 | 61 | 0.120 |
Why?
|
| Fetus | 1 | 2018 | 573 | 0.120 |
Why?
|
| Ubiquitin-Protein Ligases | 1 | 2017 | 352 | 0.120 |
Why?
|
| Adenosine Triphosphatases | 1 | 2015 | 208 | 0.120 |
Why?
|
| Adult | 7 | 2024 | 29062 | 0.120 |
Why?
|
| Nuclear Proteins | 1 | 2020 | 1266 | 0.110 |
Why?
|
| Adolescent | 8 | 2024 | 19103 | 0.110 |
Why?
|
| Liver Diseases | 1 | 2018 | 362 | 0.110 |
Why?
|
| Intensive Care Units, Pediatric | 1 | 2017 | 470 | 0.110 |
Why?
|
| Transcription Factors | 1 | 2023 | 2585 | 0.110 |
Why?
|
| Facies | 2 | 2024 | 155 | 0.100 |
Why?
|
| United States | 4 | 2019 | 10631 | 0.100 |
Why?
|
| Loss of Function Mutation | 2 | 2024 | 142 | 0.090 |
Why?
|
| Haploinsufficiency | 2 | 2024 | 247 | 0.090 |
Why?
|
| Caenorhabditis elegans | 2 | 2023 | 225 | 0.090 |
Why?
|
| Animals | 7 | 2025 | 33749 | 0.090 |
Why?
|
| Membrane Proteins | 1 | 2018 | 1529 | 0.090 |
Why?
|
| Neoplasms | 1 | 2024 | 2758 | 0.080 |
Why?
|
| Texas | 3 | 2024 | 3555 | 0.080 |
Why?
|
| Cell Membrane | 2 | 2022 | 459 | 0.080 |
Why?
|
| Middle Aged | 3 | 2024 | 25994 | 0.080 |
Why?
|
| Genetics | 2 | 2019 | 25 | 0.080 |
Why?
|
| Gene Deletion | 2 | 2024 | 793 | 0.080 |
Why?
|
| Prenatal Diagnosis | 2 | 2023 | 588 | 0.070 |
Why?
|
| Alleles | 2 | 2021 | 1603 | 0.060 |
Why?
|
| Centrosome | 1 | 2025 | 34 | 0.060 |
Why?
|
| Chromosome Segregation | 1 | 2025 | 62 | 0.060 |
Why?
|
| Pan troglodytes | 1 | 2024 | 71 | 0.060 |
Why?
|
| Base Sequence | 2 | 2022 | 3091 | 0.060 |
Why?
|
| Genetic Services | 1 | 2024 | 7 | 0.060 |
Why?
|
| Anus, Imperforate | 1 | 2024 | 20 | 0.060 |
Why?
|
| Blepharophimosis | 1 | 2024 | 26 | 0.060 |
Why?
|
| Methyltransferases | 1 | 2025 | 71 | 0.060 |
Why?
|
| Agenesis of Corpus Callosum | 1 | 2024 | 38 | 0.060 |
Why?
|
| Genetic Diseases, X-Linked | 1 | 2024 | 65 | 0.060 |
Why?
|
| RNA Splice Sites | 1 | 2024 | 87 | 0.060 |
Why?
|
| Infant, Newborn | 3 | 2024 | 8108 | 0.060 |
Why?
|
| NIH 3T3 Cells | 1 | 2023 | 92 | 0.060 |
Why?
|
| Blepharoptosis | 1 | 2024 | 67 | 0.060 |
Why?
|
| Mental Retardation, X-Linked | 1 | 2024 | 84 | 0.050 |
Why?
|
| Constipation | 1 | 2024 | 113 | 0.050 |
Why?
|
| Germ Cells | 1 | 2024 | 192 | 0.050 |
Why?
|
| 4-Aminopyridine | 1 | 2023 | 32 | 0.050 |
Why?
|
| Kv1.1 Potassium Channel | 1 | 2023 | 37 | 0.050 |
Why?
|
| Cleft Palate | 1 | 2024 | 140 | 0.050 |
Why?
|
| Gait | 1 | 2023 | 145 | 0.050 |
Why?
|
| Sequence Deletion | 1 | 2024 | 527 | 0.050 |
Why?
|
| Calcium Channels, L-Type | 1 | 2022 | 53 | 0.050 |
Why?
|
| Homologous Recombination | 1 | 2022 | 92 | 0.050 |
Why?
|
| Gain of Function Mutation | 1 | 2023 | 105 | 0.050 |
Why?
|
| Transposases | 1 | 2022 | 40 | 0.050 |
Why?
|
| Alveolar Epithelial Cells | 1 | 2022 | 27 | 0.050 |
Why?
|
| Histidine | 1 | 2022 | 72 | 0.050 |
Why?
|
| High-Throughput Nucleotide Sequencing | 2 | 2019 | 863 | 0.050 |
Why?
|
| Pulmonary Surfactants | 1 | 2022 | 43 | 0.050 |
Why?
|
| Calcium Channels | 1 | 2022 | 158 | 0.050 |
Why?
|
| CRISPR-Cas Systems | 1 | 2024 | 251 | 0.050 |
Why?
|
| Phosphoric Monoester Hydrolases | 1 | 2022 | 100 | 0.050 |
Why?
|
| Neurons | 2 | 2022 | 1936 | 0.050 |
Why?
|
| Mammals | 1 | 2022 | 262 | 0.050 |
Why?
|
| Down-Regulation | 1 | 2023 | 697 | 0.050 |
Why?
|
| TOR Serine-Threonine Kinases | 1 | 2023 | 426 | 0.050 |
Why?
|
| Amish | 1 | 2020 | 9 | 0.050 |
Why?
|
| Age of Onset | 1 | 2022 | 581 | 0.050 |
Why?
|
| Symptom Assessment | 1 | 2021 | 98 | 0.050 |
Why?
|
| Lung Diseases, Interstitial | 1 | 2022 | 147 | 0.040 |
Why?
|
| Proteomics | 1 | 2023 | 479 | 0.040 |
Why?
|
| Healthcare Disparities | 1 | 2024 | 417 | 0.040 |
Why?
|
| Zebrafish Proteins | 1 | 2020 | 105 | 0.040 |
Why?
|
| Artificial Intelligence | 1 | 2023 | 237 | 0.040 |
Why?
|
| Actins | 1 | 2021 | 340 | 0.040 |
Why?
|
| Th2 Cells | 1 | 2020 | 187 | 0.040 |
Why?
|
| Microscopy, Confocal | 1 | 2020 | 348 | 0.040 |
Why?
|
| Genetics, Population | 1 | 2020 | 189 | 0.040 |
Why?
|
| Limit of Detection | 1 | 2019 | 60 | 0.040 |
Why?
|
| Thanatophoric Dysplasia | 1 | 2019 | 6 | 0.040 |
Why?
|
| Lymphangioma, Cystic | 1 | 2019 | 16 | 0.040 |
Why?
|
| Nuchal Translucency Measurement | 1 | 2019 | 17 | 0.040 |
Why?
|
| Achondroplasia | 1 | 2019 | 22 | 0.040 |
Why?
|
| Acrocephalosyndactylia | 1 | 2019 | 22 | 0.040 |
Why?
|
| De Lange Syndrome | 1 | 2019 | 44 | 0.040 |
Why?
|
| Neuroglia | 1 | 2020 | 193 | 0.040 |
Why?
|
| Hydrops Fetalis | 1 | 2019 | 75 | 0.040 |
Why?
|
| Sequence Analysis, RNA | 1 | 2021 | 375 | 0.040 |
Why?
|
| Collagen Type I | 1 | 2019 | 110 | 0.040 |
Why?
|
| Accreditation | 1 | 2019 | 81 | 0.040 |
Why?
|
| Pregnancy | 2 | 2023 | 7148 | 0.040 |
Why?
|
| Cell-Free Nucleic Acids | 1 | 2019 | 43 | 0.040 |
Why?
|
| Carrier Proteins | 1 | 2023 | 1019 | 0.040 |
Why?
|
| Drug Resistant Epilepsy | 1 | 2021 | 200 | 0.040 |
Why?
|
| Seizures | 1 | 2023 | 874 | 0.040 |
Why?
|
| Phenylalanine | 1 | 2018 | 120 | 0.040 |
Why?
|
| Inheritance Patterns | 1 | 2018 | 125 | 0.040 |
Why?
|
| Kinetics | 1 | 2020 | 1313 | 0.040 |
Why?
|
| Paraplegia | 1 | 2018 | 91 | 0.040 |
Why?
|
| Infant Care | 1 | 2017 | 46 | 0.040 |
Why?
|
| HEK293 Cells | 1 | 2020 | 740 | 0.040 |
Why?
|
| C-Reactive Protein | 1 | 2020 | 406 | 0.040 |
Why?
|
| Electronic Health Records | 1 | 2024 | 705 | 0.040 |
Why?
|
| Acidosis, Lactic | 1 | 2017 | 30 | 0.040 |
Why?
|
| Up-Regulation | 1 | 2020 | 863 | 0.040 |
Why?
|
| Calcium | 1 | 2022 | 1096 | 0.040 |
Why?
|
| Homozygote | 1 | 2019 | 533 | 0.040 |
Why?
|
| Oxidative Phosphorylation | 1 | 2017 | 92 | 0.040 |
Why?
|
| Protein Isoforms | 1 | 2018 | 408 | 0.040 |
Why?
|
| Structure-Activity Relationship | 1 | 2018 | 567 | 0.030 |
Why?
|
| Mice | 2 | 2024 | 17494 | 0.030 |
Why?
|
| Bone and Bones | 1 | 2019 | 262 | 0.030 |
Why?
|
| Protein Binding | 1 | 2020 | 1741 | 0.030 |
Why?
|
| Gene Expression | 1 | 2021 | 1566 | 0.030 |
Why?
|
| Chromosome Aberrations | 1 | 2019 | 614 | 0.030 |
Why?
|
| Genetic Counseling | 1 | 2017 | 225 | 0.030 |
Why?
|
| Cardiomyopathy, Hypertrophic | 1 | 2017 | 151 | 0.030 |
Why?
|
| Mismatch Repair Endonuclease PMS2 | 1 | 2015 | 9 | 0.030 |
Why?
|
| Proteome | 1 | 2017 | 233 | 0.030 |
Why?
|
| Young Adult | 2 | 2020 | 8863 | 0.030 |
Why?
|
| Drosophila melanogaster | 1 | 2020 | 738 | 0.030 |
Why?
|
| Family | 1 | 2018 | 579 | 0.030 |
Why?
|
| Models, Biological | 1 | 2020 | 1441 | 0.030 |
Why?
|
| Drosophila Proteins | 1 | 2020 | 707 | 0.030 |
Why?
|
| Kaplan-Meier Estimate | 1 | 2017 | 1005 | 0.030 |
Why?
|
| Cytokines | 1 | 2020 | 1285 | 0.030 |
Why?
|
| Cells, Cultured | 1 | 2020 | 3042 | 0.030 |
Why?
|
| Lung | 1 | 2022 | 1475 | 0.030 |
Why?
|
| Disease Management | 1 | 2017 | 514 | 0.030 |
Why?
|
| Gene Dosage | 1 | 2015 | 441 | 0.030 |
Why?
|
| Predictive Value of Tests | 1 | 2019 | 2106 | 0.030 |
Why?
|
| Brain | 1 | 2024 | 2961 | 0.030 |
Why?
|
| Heart Defects, Congenital | 1 | 2024 | 1806 | 0.030 |
Why?
|
| Prospective Studies | 1 | 2023 | 6033 | 0.020 |
Why?
|
| Critical Care | 1 | 2017 | 648 | 0.020 |
Why?
|
| Length of Stay | 1 | 2017 | 1284 | 0.020 |
Why?
|
| Polymerase Chain Reaction | 1 | 2015 | 1584 | 0.020 |
Why?
|
| Signal Transduction | 1 | 2023 | 4489 | 0.020 |
Why?
|
| Liver | 1 | 2018 | 1734 | 0.020 |
Why?
|
| Molecular Sequence Data | 1 | 2015 | 3868 | 0.020 |
Why?
|
| Magnetic Resonance Imaging | 1 | 2021 | 3543 | 0.020 |
Why?
|