| Name |
Number of Publications
|
Most Recent Publication
|
Publications by All Authors
|
Concept Score
|
Why?
|
|---|
| DNA Copy Number Variations | 6 | 2024 | 1568 | 1.080 |
Why?
|
| Muscle Hypotonia | 5 | 2024 | 188 | 0.970 |
Why?
|
| Whole Genome Sequencing | 4 | 2024 | 367 | 0.960 |
Why?
|
| Scleroderma, Systemic | 1 | 2024 | 165 | 0.850 |
Why?
|
| Muscular Diseases | 1 | 2022 | 161 | 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 | 423 | 0.650 |
Why?
|
| Genetic Diseases, Inborn | 5 | 2021 | 459 | 0.620 |
Why?
|
| Genome-Wide Association Study | 1 | 2024 | 2351 | 0.520 |
Why?
|
| Intellectual Disability | 4 | 2024 | 1065 | 0.500 |
Why?
|
| Genetic Predisposition to Disease | 5 | 2024 | 5776 | 0.500 |
Why?
|
| Epilepsy | 4 | 2024 | 931 | 0.480 |
Why?
|
| Polymorphism, Single Nucleotide | 1 | 2024 | 4644 | 0.410 |
Why?
|
| Exome | 8 | 2024 | 1248 | 0.380 |
Why?
|
| Phenotype | 10 | 2024 | 6509 | 0.340 |
Why?
|
| Rare Diseases | 2 | 2023 | 360 | 0.330 |
Why?
|
| Genetic Association Studies | 4 | 2024 | 1099 | 0.330 |
Why?
|
| Mutation | 13 | 2024 | 15912 | 0.330 |
Why?
|
| Neurodevelopmental Disorders | 2 | 2024 | 464 | 0.320 |
Why?
|
| Microcephaly | 2 | 2022 | 333 | 0.320 |
Why?
|
| Hernias, Diaphragmatic, Congenital | 2 | 2024 | 386 | 0.310 |
Why?
|
| Fibroblasts | 3 | 2024 | 1654 | 0.300 |
Why?
|
| Autism Spectrum Disorder | 2 | 2023 | 377 | 0.290 |
Why?
|
| Mitochondrial Proteins | 3 | 2018 | 379 | 0.290 |
Why?
|
| Mitochondrial Diseases | 2 | 2018 | 145 | 0.270 |
Why?
|
| DNA, Mitochondrial | 2 | 2018 | 315 | 0.260 |
Why?
|
| Germ-Line Mutation | 2 | 2024 | 1101 | 0.250 |
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 | 1383 | 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 | 69 | 0.220 |
Why?
|
| Medically Underserved Area | 1 | 2024 | 123 | 0.220 |
Why?
|
| Polycystic Kidney, Autosomal Dominant | 1 | 2023 | 22 | 0.220 |
Why?
|
| Genetic Testing | 3 | 2024 | 1696 | 0.210 |
Why?
|
| Pedigree | 3 | 2022 | 2042 | 0.210 |
Why?
|
| Genes, Dominant | 2 | 2020 | 356 | 0.210 |
Why?
|
| DNA-Binding Proteins | 5 | 2024 | 5002 | 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 | 68 | 0.190 |
Why?
|
| Aniridia | 1 | 2021 | 17 | 0.190 |
Why?
|
| Abnormalities, Multiple | 3 | 2024 | 1023 | 0.190 |
Why?
|
| Inositol 1,4,5-Trisphosphate Receptors | 1 | 2021 | 38 | 0.190 |
Why?
|
| Humans | 38 | 2024 | 270740 | 0.190 |
Why?
|
| Hand Deformities, Congenital | 1 | 2021 | 95 | 0.190 |
Why?
|
| Movement Disorders | 1 | 2023 | 234 | 0.180 |
Why?
|
| Ribonuclease III | 1 | 2022 | 182 | 0.180 |
Why?
|
| Cytokine Receptor gp130 | 1 | 2020 | 25 | 0.180 |
Why?
|
| Protein Precursors | 1 | 2022 | 249 | 0.180 |
Why?
|
| Cerebellar Ataxia | 1 | 2021 | 72 | 0.180 |
Why?
|
| Sudden Infant Death | 1 | 2020 | 34 | 0.180 |
Why?
|
| Calcineurin | 1 | 2021 | 130 | 0.180 |
Why?
|
| Job Syndrome | 1 | 2020 | 22 | 0.180 |
Why?
|
| Infant | 7 | 2024 | 13999 | 0.180 |
Why?
|
| DEAD-box RNA Helicases | 1 | 2022 | 256 | 0.170 |
Why?
|
| INDEL Mutation | 1 | 2020 | 114 | 0.170 |
Why?
|
| Introns | 1 | 2021 | 461 | 0.170 |
Why?
|
| Developmental Disabilities | 2 | 2023 | 697 | 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 | 831 | 0.150 |
Why?
|
| Microarray Analysis | 1 | 2019 | 396 | 0.150 |
Why?
|
| Mitochondrial Encephalomyopathies | 1 | 2017 | 28 | 0.150 |
Why?
|
| Telemedicine | 1 | 2024 | 552 | 0.150 |
Why?
|
| Child, Preschool | 9 | 2024 | 17061 | 0.140 |
Why?
|
| Testis | 1 | 2020 | 620 | 0.140 |
Why?
|
| F-Box Proteins | 1 | 2017 | 97 | 0.140 |
Why?
|
| Mitochondria | 3 | 2018 | 1297 | 0.140 |
Why?
|
| Genetic Variation | 2 | 2022 | 2166 | 0.140 |
Why?
|
| Child | 12 | 2024 | 30559 | 0.130 |
Why?
|
| Ultrasonography, Prenatal | 2 | 2019 | 923 | 0.130 |
Why?
|
| Genome, Human | 1 | 2024 | 1888 | 0.130 |
Why?
|
| Multiplex Polymerase Chain Reaction | 1 | 2015 | 59 | 0.130 |
Why?
|
| Skin | 1 | 2021 | 1271 | 0.120 |
Why?
|
| Genomics | 2 | 2024 | 2835 | 0.120 |
Why?
|
| Mutation, Missense | 1 | 2020 | 1192 | 0.120 |
Why?
|
| Female | 18 | 2024 | 148940 | 0.120 |
Why?
|
| Sequence Analysis, DNA | 2 | 2019 | 2573 | 0.120 |
Why?
|
| Fetus | 1 | 2018 | 674 | 0.120 |
Why?
|
| Male | 15 | 2024 | 128315 | 0.120 |
Why?
|
| Peripheral Nervous System Diseases | 1 | 2018 | 401 | 0.120 |
Why?
|
| DNA Repair Enzymes | 1 | 2015 | 238 | 0.110 |
Why?
|
| DNA Methylation | 1 | 2024 | 2765 | 0.110 |
Why?
|
| DNA Mutational Analysis | 2 | 2021 | 2357 | 0.110 |
Why?
|
| Intensive Care Units, Pediatric | 1 | 2017 | 477 | 0.110 |
Why?
|
| Adenosine Triphosphatases | 1 | 2015 | 427 | 0.110 |
Why?
|
| Facies | 2 | 2024 | 160 | 0.100 |
Why?
|
| Tumor Suppressor Proteins | 1 | 2020 | 1903 | 0.100 |
Why?
|
| Liver Diseases | 1 | 2018 | 602 | 0.100 |
Why?
|
| Ubiquitin-Protein Ligases | 1 | 2017 | 875 | 0.100 |
Why?
|
| Loss of Function Mutation | 2 | 2024 | 165 | 0.100 |
Why?
|
| Colorectal Neoplasms, Hereditary Nonpolyposis | 1 | 2015 | 481 | 0.090 |
Why?
|
| Haploinsufficiency | 2 | 2024 | 301 | 0.090 |
Why?
|
| Adolescent | 8 | 2024 | 32767 | 0.090 |
Why?
|
| Caenorhabditis elegans | 2 | 2023 | 280 | 0.090 |
Why?
|
| Retrospective Studies | 6 | 2023 | 39890 | 0.090 |
Why?
|
| United States | 4 | 2019 | 15861 | 0.080 |
Why?
|
| Transcription Factors | 1 | 2023 | 5438 | 0.080 |
Why?
|
| Nuclear Proteins | 1 | 2020 | 3438 | 0.080 |
Why?
|
| Genetics | 2 | 2019 | 28 | 0.080 |
Why?
|
| Adult | 7 | 2024 | 82040 | 0.080 |
Why?
|
| Cell Membrane | 2 | 2022 | 878 | 0.070 |
Why?
|
| Texas | 3 | 2024 | 6449 | 0.070 |
Why?
|
| Membrane Proteins | 1 | 2018 | 2928 | 0.070 |
Why?
|
| Prenatal Diagnosis | 2 | 2023 | 610 | 0.070 |
Why?
|
| Gene Deletion | 2 | 2024 | 1474 | 0.070 |
Why?
|
| Ovarian Neoplasms | 1 | 2022 | 4795 | 0.060 |
Why?
|
| Genetic Services | 1 | 2024 | 11 | 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 | 71 | 0.060 |
Why?
|
| Alleles | 2 | 2021 | 2600 | 0.060 |
Why?
|
| RNA Splice Sites | 1 | 2024 | 117 | 0.060 |
Why?
|
| Animals | 6 | 2024 | 61956 | 0.060 |
Why?
|
| Blepharoptosis | 1 | 2024 | 74 | 0.060 |
Why?
|
| NIH 3T3 Cells | 1 | 2023 | 255 | 0.050 |
Why?
|
| Gait | 1 | 2023 | 97 | 0.050 |
Why?
|
| Pan troglodytes | 1 | 2024 | 221 | 0.050 |
Why?
|
| Constipation | 1 | 2024 | 187 | 0.050 |
Why?
|
| 4-Aminopyridine | 1 | 2023 | 43 | 0.050 |
Why?
|
| Mental Retardation, X-Linked | 1 | 2024 | 117 | 0.050 |
Why?
|
| Kv1.1 Potassium Channel | 1 | 2023 | 42 | 0.050 |
Why?
|
| Base Sequence | 2 | 2022 | 5437 | 0.050 |
Why?
|
| Cleft Palate | 1 | 2024 | 148 | 0.050 |
Why?
|
| Germ Cells | 1 | 2024 | 329 | 0.050 |
Why?
|
| Transposases | 1 | 2022 | 69 | 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 | 187 | 0.050 |
Why?
|
| Sequence Deletion | 1 | 2024 | 909 | 0.050 |
Why?
|
| Middle Aged | 3 | 2024 | 90352 | 0.050 |
Why?
|
| Calcium Channels | 1 | 2022 | 213 | 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 | 369 | 0.050 |
Why?
|
| Neurons | 2 | 2022 | 2439 | 0.040 |
Why?
|
| Age of Onset | 1 | 2022 | 853 | 0.040 |
Why?
|
| Zebrafish Proteins | 1 | 2020 | 155 | 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 | 18 | 0.040 |
Why?
|
| Limit of Detection | 1 | 2019 | 85 | 0.040 |
Why?
|
| Lymphangioma, Cystic | 1 | 2019 | 23 | 0.040 |
Why?
|
| Th2 Cells | 1 | 2020 | 252 | 0.040 |
Why?
|
| Achondroplasia | 1 | 2019 | 24 | 0.040 |
Why?
|
| Acrocephalosyndactylia | 1 | 2019 | 22 | 0.040 |
Why?
|
| Symptom Assessment | 1 | 2021 | 272 | 0.040 |
Why?
|
| De Lange Syndrome | 1 | 2019 | 44 | 0.040 |
Why?
|
| Genetics, Population | 1 | 2020 | 259 | 0.040 |
Why?
|
| Hydrops Fetalis | 1 | 2019 | 75 | 0.040 |
Why?
|
| Actins | 1 | 2021 | 602 | 0.040 |
Why?
|
| Neuroglia | 1 | 2020 | 248 | 0.040 |
Why?
|
| Healthcare Disparities | 1 | 2024 | 657 | 0.040 |
Why?
|
| Microscopy, Confocal | 1 | 2020 | 659 | 0.040 |
Why?
|
| Artificial Intelligence | 1 | 2023 | 425 | 0.040 |
Why?
|
| Paraplegia | 1 | 2018 | 99 | 0.040 |
Why?
|
| Down-Regulation | 1 | 2023 | 2090 | 0.040 |
Why?
|
| Accreditation | 1 | 2019 | 137 | 0.040 |
Why?
|
| Inheritance Patterns | 1 | 2018 | 136 | 0.040 |
Why?
|
| Drug Resistant Epilepsy | 1 | 2021 | 217 | 0.040 |
Why?
|
| Collagen Type I | 1 | 2019 | 187 | 0.040 |
Why?
|
| Phenylalanine | 1 | 2018 | 166 | 0.040 |
Why?
|
| Pregnancy | 2 | 2023 | 8130 | 0.040 |
Why?
|
| Neoplasms | 1 | 2024 | 15927 | 0.040 |
Why?
|
| Infant Care | 1 | 2017 | 46 | 0.040 |
Why?
|
| High-Throughput Nucleotide Sequencing | 2 | 2019 | 2359 | 0.040 |
Why?
|
| Zebrafish | 1 | 2020 | 457 | 0.040 |
Why?
|
| Seizures | 1 | 2023 | 1001 | 0.040 |
Why?
|
| Sequence Analysis, RNA | 1 | 2021 | 676 | 0.040 |
Why?
|
| Acidosis, Lactic | 1 | 2017 | 34 | 0.040 |
Why?
|
| Electronic Health Records | 1 | 2024 | 850 | 0.040 |
Why?
|
| Kinetics | 1 | 2020 | 2220 | 0.040 |
Why?
|
| TOR Serine-Threonine Kinases | 1 | 2023 | 1563 | 0.030 |
Why?
|
| Homozygote | 1 | 2019 | 772 | 0.030 |
Why?
|
| C-Reactive Protein | 1 | 2020 | 558 | 0.030 |
Why?
|
| Cell-Free Nucleic Acids | 1 | 2019 | 232 | 0.030 |
Why?
|
| Structure-Activity Relationship | 1 | 2018 | 979 | 0.030 |
Why?
|
| Calcium | 1 | 2022 | 1578 | 0.030 |
Why?
|
| Proteomics | 1 | 2023 | 1427 | 0.030 |
Why?
|
| Cardiomyopathy, Hypertrophic | 1 | 2017 | 169 | 0.030 |
Why?
|
| HEK293 Cells | 1 | 2020 | 1461 | 0.030 |
Why?
|
| Protein Isoforms | 1 | 2018 | 848 | 0.030 |
Why?
|
| Oxidative Phosphorylation | 1 | 2017 | 271 | 0.030 |
Why?
|
| Infant, Newborn | 2 | 2020 | 8699 | 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 | 2098 | 0.030 |
Why?
|
| Genetic Counseling | 1 | 2017 | 417 | 0.030 |
Why?
|
| Drosophila melanogaster | 1 | 2020 | 866 | 0.030 |
Why?
|
| Family | 1 | 2018 | 783 | 0.030 |
Why?
|
| Drosophila Proteins | 1 | 2020 | 906 | 0.030 |
Why?
|
| Up-Regulation | 1 | 2020 | 2422 | 0.030 |
Why?
|
| Protein Binding | 1 | 2020 | 3485 | 0.030 |
Why?
|
| Proteome | 1 | 2017 | 571 | 0.030 |
Why?
|
| Gene Expression | 1 | 2021 | 3640 | 0.030 |
Why?
|
| Mice | 2 | 2024 | 35600 | 0.030 |
Why?
|
| Heart Defects, Congenital | 1 | 2024 | 1795 | 0.030 |
Why?
|
| Gene Dosage | 1 | 2015 | 823 | 0.030 |
Why?
|
| Disease Management | 1 | 2017 | 1090 | 0.020 |
Why?
|
| Chromosome Aberrations | 1 | 2019 | 2035 | 0.020 |
Why?
|
| Cells, Cultured | 1 | 2020 | 5694 | 0.020 |
Why?
|
| Models, Biological | 1 | 2020 | 3194 | 0.020 |
Why?
|
| Critical Care | 1 | 2017 | 796 | 0.020 |
Why?
|
| Brain | 1 | 2024 | 4208 | 0.020 |
Why?
|
| Cytokines | 1 | 2020 | 2825 | 0.020 |
Why?
|
| Lung | 1 | 2022 | 3298 | 0.020 |
Why?
|
| Length of Stay | 1 | 2017 | 2007 | 0.020 |
Why?
|
| Young Adult | 2 | 2020 | 22251 | 0.020 |
Why?
|
| Predictive Value of Tests | 1 | 2019 | 4960 | 0.020 |
Why?
|
| Polymerase Chain Reaction | 1 | 2015 | 3476 | 0.020 |
Why?
|
| Molecular Sequence Data | 1 | 2015 | 6685 | 0.020 |
Why?
|
| Prospective Studies | 1 | 2023 | 13414 | 0.020 |
Why?
|
| Liver | 1 | 2018 | 3086 | 0.020 |
Why?
|
| Kaplan-Meier Estimate | 1 | 2017 | 6256 | 0.020 |
Why?
|
| Signal Transduction | 1 | 2023 | 12103 | 0.020 |
Why?
|
| Magnetic Resonance Imaging | 1 | 2021 | 7895 | 0.010 |
Why?
|