| Name |
Number of Publications
|
Most Recent Publication
|
Publications by All Authors
|
Concept Score
|
Why?
|
|---|
| DNA Copy Number Variations | 6 | 2024 | 1576 | 1.080 |
Why?
|
| Muscle Hypotonia | 5 | 2024 | 188 | 0.960 |
Why?
|
| Whole Genome Sequencing | 4 | 2024 | 367 | 0.960 |
Why?
|
| Scleroderma, Systemic | 1 | 2024 | 165 | 0.850 |
Why?
|
| Muscular Diseases | 1 | 2022 | 157 | 0.780 |
Why?
|
| Certification | 2 | 2019 | 107 | 0.750 |
Why?
|
| Uniparental Disomy | 1 | 2021 | 63 | 0.740 |
Why?
|
| Laboratories | 3 | 2023 | 132 | 0.680 |
Why?
|
| Chromosome Disorders | 1 | 2021 | 420 | 0.650 |
Why?
|
| Genetic Diseases, Inborn | 5 | 2021 | 459 | 0.610 |
Why?
|
| Genome-Wide Association Study | 1 | 2024 | 2348 | 0.510 |
Why?
|
| Intellectual Disability | 4 | 2024 | 1064 | 0.500 |
Why?
|
| Genetic Predisposition to Disease | 5 | 2024 | 5779 | 0.490 |
Why?
|
| Epilepsy | 4 | 2024 | 928 | 0.480 |
Why?
|
| Polymorphism, Single Nucleotide | 1 | 2024 | 4645 | 0.410 |
Why?
|
| Exome | 8 | 2024 | 1249 | 0.380 |
Why?
|
| Phenotype | 10 | 2024 | 6503 | 0.340 |
Why?
|
| Rare Diseases | 2 | 2023 | 360 | 0.330 |
Why?
|
| Genetic Association Studies | 4 | 2024 | 1098 | 0.320 |
Why?
|
| Mutation | 13 | 2024 | 15922 | 0.320 |
Why?
|
| Neurodevelopmental Disorders | 2 | 2024 | 461 | 0.320 |
Why?
|
| Microcephaly | 2 | 2022 | 328 | 0.320 |
Why?
|
| Hernias, Diaphragmatic, Congenital | 2 | 2024 | 386 | 0.310 |
Why?
|
| Fibroblasts | 3 | 2024 | 1647 | 0.300 |
Why?
|
| Autism Spectrum Disorder | 2 | 2023 | 377 | 0.290 |
Why?
|
| Mitochondrial Proteins | 3 | 2018 | 377 | 0.290 |
Why?
|
| Mitochondrial Diseases | 2 | 2018 | 144 | 0.270 |
Why?
|
| DNA, Mitochondrial | 2 | 2018 | 311 | 0.260 |
Why?
|
| Germ-Line Mutation | 2 | 2024 | 1102 | 0.240 |
Why?
|
| NIMA-Related Kinases | 1 | 2024 | 16 | 0.240 |
Why?
|
| Cryptorchidism | 1 | 2024 | 49 | 0.230 |
Why?
|
| Mediator Complex | 1 | 2024 | 67 | 0.230 |
Why?
|
| Exons | 3 | 2022 | 1388 | 0.230 |
Why?
|
| Osteogenesis Imperfecta | 2 | 2023 | 149 | 0.230 |
Why?
|
| Chromosome Inversion | 1 | 2024 | 197 | 0.230 |
Why?
|
| TRPP Cation Channels | 1 | 2023 | 7 | 0.230 |
Why?
|
| Muscular Dystrophy, Duchenne | 1 | 2024 | 71 | 0.220 |
Why?
|
| Medically Underserved Area | 1 | 2024 | 121 | 0.220 |
Why?
|
| Polycystic Kidney, Autosomal Dominant | 1 | 2023 | 22 | 0.220 |
Why?
|
| Genetic Testing | 3 | 2024 | 1692 | 0.210 |
Why?
|
| Pedigree | 3 | 2022 | 2040 | 0.210 |
Why?
|
| Genes, Dominant | 2 | 2020 | 356 | 0.210 |
Why?
|
| DNA-Binding Proteins | 5 | 2024 | 4993 | 0.210 |
Why?
|
| Calcium Channels, N-Type | 1 | 2022 | 40 | 0.200 |
Why?
|
| Epilepsy, Generalized | 1 | 2023 | 69 | 0.200 |
Why?
|
| Pulmonary Surfactant-Associated Protein C | 1 | 2022 | 11 | 0.200 |
Why?
|
| rab5 GTP-Binding Proteins | 1 | 2022 | 19 | 0.200 |
Why?
|
| Pulmonary Surfactant-Associated Proteins | 1 | 2022 | 19 | 0.200 |
Why?
|
| Sertoli-Leydig Cell Tumor | 1 | 2022 | 20 | 0.200 |
Why?
|
| Chromosomal Proteins, Non-Histone | 2 | 2021 | 376 | 0.190 |
Why?
|
| Micrognathism | 1 | 2021 | 67 | 0.190 |
Why?
|
| Abnormalities, Multiple | 3 | 2024 | 1023 | 0.190 |
Why?
|
| Aniridia | 1 | 2021 | 17 | 0.190 |
Why?
|
| Inositol 1,4,5-Trisphosphate Receptors | 1 | 2021 | 39 | 0.190 |
Why?
|
| Humans | 38 | 2024 | 270804 | 0.180 |
Why?
|
| Hand Deformities, Congenital | 1 | 2021 | 95 | 0.180 |
Why?
|
| Movement Disorders | 1 | 2023 | 236 | 0.180 |
Why?
|
| Ribonuclease III | 1 | 2022 | 182 | 0.180 |
Why?
|
| Cerebellar Ataxia | 1 | 2021 | 72 | 0.180 |
Why?
|
| Cytokine Receptor gp130 | 1 | 2020 | 25 | 0.180 |
Why?
|
| Calcineurin | 1 | 2021 | 128 | 0.180 |
Why?
|
| Protein Precursors | 1 | 2022 | 252 | 0.180 |
Why?
|
| Sudden Infant Death | 1 | 2020 | 34 | 0.180 |
Why?
|
| Job Syndrome | 1 | 2020 | 22 | 0.180 |
Why?
|
| Infant | 7 | 2024 | 14003 | 0.170 |
Why?
|
| DEAD-box RNA Helicases | 1 | 2022 | 256 | 0.170 |
Why?
|
| INDEL Mutation | 1 | 2020 | 114 | 0.170 |
Why?
|
| Introns | 1 | 2021 | 460 | 0.170 |
Why?
|
| Developmental Disabilities | 2 | 2023 | 695 | 0.170 |
Why?
|
| RNA, Long Noncoding | 1 | 2024 | 617 | 0.160 |
Why?
|
| Phenylalanine-tRNA Ligase | 1 | 2018 | 4 | 0.160 |
Why?
|
| Amino Acyl-tRNA Synthetases | 1 | 2018 | 30 | 0.160 |
Why?
|
| Education | 1 | 2019 | 125 | 0.150 |
Why?
|
| Heredodegenerative Disorders, Nervous System | 1 | 2018 | 12 | 0.150 |
Why?
|
| Technology | 1 | 2019 | 100 | 0.150 |
Why?
|
| Health Services Accessibility | 1 | 2024 | 819 | 0.150 |
Why?
|
| Microarray Analysis | 1 | 2019 | 396 | 0.150 |
Why?
|
| Mitochondrial Encephalomyopathies | 1 | 2017 | 28 | 0.150 |
Why?
|
| Telemedicine | 1 | 2024 | 557 | 0.150 |
Why?
|
| Child, Preschool | 9 | 2024 | 17083 | 0.140 |
Why?
|
| Testis | 1 | 2020 | 620 | 0.140 |
Why?
|
| F-Box Proteins | 1 | 2017 | 96 | 0.140 |
Why?
|
| Mitochondria | 3 | 2018 | 1293 | 0.140 |
Why?
|
| Genetic Variation | 2 | 2022 | 2157 | 0.140 |
Why?
|
| Child | 12 | 2024 | 30572 | 0.130 |
Why?
|
| Ultrasonography, Prenatal | 2 | 2019 | 923 | 0.130 |
Why?
|
| Genome, Human | 1 | 2024 | 1896 | 0.130 |
Why?
|
| Multiplex Polymerase Chain Reaction | 1 | 2015 | 59 | 0.130 |
Why?
|
| Genomics | 2 | 2024 | 2834 | 0.120 |
Why?
|
| Skin | 1 | 2021 | 1281 | 0.120 |
Why?
|
| Mutation, Missense | 1 | 2020 | 1196 | 0.120 |
Why?
|
| Female | 18 | 2024 | 148936 | 0.120 |
Why?
|
| Sequence Analysis, DNA | 2 | 2019 | 2560 | 0.120 |
Why?
|
| Fetus | 1 | 2018 | 670 | 0.120 |
Why?
|
| Male | 15 | 2024 | 128520 | 0.120 |
Why?
|
| DNA Repair Enzymes | 1 | 2015 | 238 | 0.110 |
Why?
|
| DNA Mutational Analysis | 2 | 2021 | 2356 | 0.110 |
Why?
|
| DNA Methylation | 1 | 2024 | 2769 | 0.110 |
Why?
|
| Peripheral Nervous System Diseases | 1 | 2018 | 407 | 0.110 |
Why?
|
| Intensive Care Units, Pediatric | 1 | 2017 | 476 | 0.110 |
Why?
|
| Adenosine Triphosphatases | 1 | 2015 | 428 | 0.110 |
Why?
|
| Tumor Suppressor Proteins | 1 | 2020 | 1902 | 0.100 |
Why?
|
| Facies | 2 | 2024 | 159 | 0.100 |
Why?
|
| Liver Diseases | 1 | 2018 | 601 | 0.100 |
Why?
|
| Ubiquitin-Protein Ligases | 1 | 2017 | 866 | 0.100 |
Why?
|
| Loss of Function Mutation | 2 | 2024 | 164 | 0.100 |
Why?
|
| Colorectal Neoplasms, Hereditary Nonpolyposis | 1 | 2015 | 481 | 0.090 |
Why?
|
| Haploinsufficiency | 2 | 2024 | 301 | 0.090 |
Why?
|
| Adolescent | 8 | 2024 | 32698 | 0.090 |
Why?
|
| Caenorhabditis elegans | 2 | 2023 | 286 | 0.090 |
Why?
|
| Retrospective Studies | 6 | 2023 | 39982 | 0.090 |
Why?
|
| United States | 4 | 2019 | 15834 | 0.080 |
Why?
|
| Transcription Factors | 1 | 2023 | 5415 | 0.080 |
Why?
|
| Nuclear Proteins | 1 | 2020 | 3435 | 0.080 |
Why?
|
| Genetics | 2 | 2019 | 28 | 0.080 |
Why?
|
| Adult | 7 | 2024 | 82073 | 0.080 |
Why?
|
| Cell Membrane | 2 | 2022 | 880 | 0.070 |
Why?
|
| Texas | 3 | 2024 | 6445 | 0.070 |
Why?
|
| Membrane Proteins | 1 | 2018 | 2922 | 0.070 |
Why?
|
| Prenatal Diagnosis | 2 | 2023 | 603 | 0.070 |
Why?
|
| Gene Deletion | 2 | 2024 | 1471 | 0.070 |
Why?
|
| Ovarian Neoplasms | 1 | 2022 | 4810 | 0.060 |
Why?
|
| Genetic Services | 1 | 2024 | 10 | 0.060 |
Why?
|
| Anus, Imperforate | 1 | 2024 | 21 | 0.060 |
Why?
|
| Blepharophimosis | 1 | 2024 | 26 | 0.060 |
Why?
|
| Agenesis of Corpus Callosum | 1 | 2024 | 41 | 0.060 |
Why?
|
| Genetic Diseases, X-Linked | 1 | 2024 | 70 | 0.060 |
Why?
|
| Alleles | 2 | 2021 | 2598 | 0.060 |
Why?
|
| RNA Splice Sites | 1 | 2024 | 115 | 0.060 |
Why?
|
| Animals | 6 | 2024 | 61362 | 0.060 |
Why?
|
| Blepharoptosis | 1 | 2024 | 74 | 0.060 |
Why?
|
| NIH 3T3 Cells | 1 | 2023 | 254 | 0.050 |
Why?
|
| Pan troglodytes | 1 | 2024 | 220 | 0.050 |
Why?
|
| 4-Aminopyridine | 1 | 2023 | 43 | 0.050 |
Why?
|
| Constipation | 1 | 2024 | 189 | 0.050 |
Why?
|
| Mental Retardation, X-Linked | 1 | 2024 | 122 | 0.050 |
Why?
|
| Kv1.1 Potassium Channel | 1 | 2023 | 42 | 0.050 |
Why?
|
| Base Sequence | 2 | 2022 | 5406 | 0.050 |
Why?
|
| Cleft Palate | 1 | 2024 | 147 | 0.050 |
Why?
|
| Gait | 1 | 2023 | 156 | 0.050 |
Why?
|
| Germ Cells | 1 | 2024 | 329 | 0.050 |
Why?
|
| Transposases | 1 | 2022 | 68 | 0.050 |
Why?
|
| Calcium Channels, L-Type | 1 | 2022 | 78 | 0.050 |
Why?
|
| Histidine | 1 | 2022 | 96 | 0.050 |
Why?
|
| Alveolar Epithelial Cells | 1 | 2022 | 51 | 0.050 |
Why?
|
| Gain of Function Mutation | 1 | 2023 | 133 | 0.050 |
Why?
|
| Pulmonary Surfactants | 1 | 2022 | 52 | 0.050 |
Why?
|
| Homologous Recombination | 1 | 2022 | 188 | 0.050 |
Why?
|
| Sequence Deletion | 1 | 2024 | 908 | 0.050 |
Why?
|
| Calcium Channels | 1 | 2022 | 214 | 0.050 |
Why?
|
| Middle Aged | 3 | 2024 | 90569 | 0.050 |
Why?
|
| Amish | 1 | 2020 | 9 | 0.050 |
Why?
|
| CRISPR-Cas Systems | 1 | 2024 | 362 | 0.050 |
Why?
|
| Phosphoric Monoester Hydrolases | 1 | 2022 | 264 | 0.050 |
Why?
|
| Mammals | 1 | 2022 | 365 | 0.050 |
Why?
|
| Neurons | 2 | 2022 | 2436 | 0.040 |
Why?
|
| Age of Onset | 1 | 2022 | 853 | 0.040 |
Why?
|
| Zebrafish Proteins | 1 | 2020 | 154 | 0.040 |
Why?
|
| Lung Diseases, Interstitial | 1 | 2022 | 216 | 0.040 |
Why?
|
| Thanatophoric Dysplasia | 1 | 2019 | 6 | 0.040 |
Why?
|
| Nuchal Translucency Measurement | 1 | 2019 | 17 | 0.040 |
Why?
|
| Limit of Detection | 1 | 2019 | 85 | 0.040 |
Why?
|
| Lymphangioma, Cystic | 1 | 2019 | 23 | 0.040 |
Why?
|
| Th2 Cells | 1 | 2020 | 245 | 0.040 |
Why?
|
| Achondroplasia | 1 | 2019 | 24 | 0.040 |
Why?
|
| Acrocephalosyndactylia | 1 | 2019 | 22 | 0.040 |
Why?
|
| Symptom Assessment | 1 | 2021 | 271 | 0.040 |
Why?
|
| De Lange Syndrome | 1 | 2019 | 44 | 0.040 |
Why?
|
| Genetics, Population | 1 | 2020 | 258 | 0.040 |
Why?
|
| Actins | 1 | 2021 | 586 | 0.040 |
Why?
|
| Hydrops Fetalis | 1 | 2019 | 75 | 0.040 |
Why?
|
| Neuroglia | 1 | 2020 | 251 | 0.040 |
Why?
|
| Healthcare Disparities | 1 | 2024 | 657 | 0.040 |
Why?
|
| Microscopy, Confocal | 1 | 2020 | 660 | 0.040 |
Why?
|
| Paraplegia | 1 | 2018 | 99 | 0.040 |
Why?
|
| Pregnancy | 2 | 2023 | 7916 | 0.040 |
Why?
|
| Down-Regulation | 1 | 2023 | 2087 | 0.040 |
Why?
|
| Accreditation | 1 | 2019 | 137 | 0.040 |
Why?
|
| Inheritance Patterns | 1 | 2018 | 136 | 0.040 |
Why?
|
| Drug Resistant Epilepsy | 1 | 2021 | 216 | 0.040 |
Why?
|
| Artificial Intelligence | 1 | 2023 | 432 | 0.040 |
Why?
|
| Collagen Type I | 1 | 2019 | 186 | 0.040 |
Why?
|
| Phenylalanine | 1 | 2018 | 160 | 0.040 |
Why?
|
| Neoplasms | 1 | 2024 | 15951 | 0.040 |
Why?
|
| Infant Care | 1 | 2017 | 44 | 0.040 |
Why?
|
| High-Throughput Nucleotide Sequencing | 2 | 2019 | 2363 | 0.040 |
Why?
|
| Zebrafish | 1 | 2020 | 456 | 0.040 |
Why?
|
| Seizures | 1 | 2023 | 996 | 0.040 |
Why?
|
| Sequence Analysis, RNA | 1 | 2021 | 674 | 0.040 |
Why?
|
| Acidosis, Lactic | 1 | 2017 | 34 | 0.040 |
Why?
|
| Electronic Health Records | 1 | 2024 | 853 | 0.040 |
Why?
|
| Kinetics | 1 | 2020 | 2206 | 0.030 |
Why?
|
| TOR Serine-Threonine Kinases | 1 | 2023 | 1536 | 0.030 |
Why?
|
| Homozygote | 1 | 2019 | 771 | 0.030 |
Why?
|
| C-Reactive Protein | 1 | 2020 | 555 | 0.030 |
Why?
|
| Cell-Free Nucleic Acids | 1 | 2019 | 232 | 0.030 |
Why?
|
| Structure-Activity Relationship | 1 | 2018 | 974 | 0.030 |
Why?
|
| Calcium | 1 | 2022 | 1571 | 0.030 |
Why?
|
| Proteomics | 1 | 2023 | 1426 | 0.030 |
Why?
|
| Cardiomyopathy, Hypertrophic | 1 | 2017 | 166 | 0.030 |
Why?
|
| HEK293 Cells | 1 | 2020 | 1458 | 0.030 |
Why?
|
| Protein Isoforms | 1 | 2018 | 843 | 0.030 |
Why?
|
| Oxidative Phosphorylation | 1 | 2017 | 271 | 0.030 |
Why?
|
| Infant, Newborn | 2 | 2020 | 8607 | 0.030 |
Why?
|
| Mismatch Repair Endonuclease PMS2 | 1 | 2015 | 49 | 0.030 |
Why?
|
| Bone and Bones | 1 | 2019 | 605 | 0.030 |
Why?
|
| Carrier Proteins | 1 | 2023 | 2084 | 0.030 |
Why?
|
| Genetic Counseling | 1 | 2017 | 417 | 0.030 |
Why?
|
| Drosophila melanogaster | 1 | 2020 | 838 | 0.030 |
Why?
|
| Family | 1 | 2018 | 782 | 0.030 |
Why?
|
| Drosophila Proteins | 1 | 2020 | 884 | 0.030 |
Why?
|
| Up-Regulation | 1 | 2020 | 2413 | 0.030 |
Why?
|
| Protein Binding | 1 | 2020 | 3472 | 0.030 |
Why?
|
| Proteome | 1 | 2017 | 571 | 0.030 |
Why?
|
| Gene Expression | 1 | 2021 | 3606 | 0.030 |
Why?
|
| Mice | 2 | 2024 | 35420 | 0.030 |
Why?
|
| Heart Defects, Congenital | 1 | 2024 | 1798 | 0.030 |
Why?
|
| Gene Dosage | 1 | 2015 | 822 | 0.030 |
Why?
|
| Chromosome Aberrations | 1 | 2019 | 2035 | 0.020 |
Why?
|
| Disease Management | 1 | 2017 | 1092 | 0.020 |
Why?
|
| Cells, Cultured | 1 | 2020 | 5658 | 0.020 |
Why?
|
| Models, Biological | 1 | 2020 | 3187 | 0.020 |
Why?
|
| Critical Care | 1 | 2017 | 794 | 0.020 |
Why?
|
| Brain | 1 | 2024 | 4199 | 0.020 |
Why?
|
| Cytokines | 1 | 2020 | 2804 | 0.020 |
Why?
|
| Lung | 1 | 2022 | 3287 | 0.020 |
Why?
|
| Length of Stay | 1 | 2017 | 1998 | 0.020 |
Why?
|
| Young Adult | 2 | 2020 | 22255 | 0.020 |
Why?
|
| Predictive Value of Tests | 1 | 2019 | 4966 | 0.020 |
Why?
|
| Polymerase Chain Reaction | 1 | 2015 | 3463 | 0.020 |
Why?
|
| Molecular Sequence Data | 1 | 2015 | 6639 | 0.020 |
Why?
|
| Liver | 1 | 2018 | 3061 | 0.020 |
Why?
|
| Prospective Studies | 1 | 2023 | 13422 | 0.020 |
Why?
|
| Kaplan-Meier Estimate | 1 | 2017 | 6259 | 0.020 |
Why?
|
| Signal Transduction | 1 | 2023 | 12036 | 0.020 |
Why?
|
| Magnetic Resonance Imaging | 1 | 2021 | 7923 | 0.010 |
Why?
|