| Name |
Number of Publications
|
Most Recent Publication
|
Publications by All Authors
|
Concept Score
|
Why?
|
|---|
| DNA Copy Number Variations | 6 | 2024 | 1036 | 1.120 |
Why?
|
| Scleroderma, Systemic | 2 | 2025 | 131 | 1.010 |
Why?
|
| Whole Genome Sequencing | 4 | 2024 | 325 | 0.920 |
Why?
|
| Muscle Hypotonia | 5 | 2024 | 200 | 0.900 |
Why?
|
| Genetic Diseases, Inborn | 6 | 2025 | 464 | 0.750 |
Why?
|
| Muscular Diseases | 1 | 2022 | 116 | 0.730 |
Why?
|
| Certification | 2 | 2019 | 73 | 0.720 |
Why?
|
| Uniparental Disomy | 1 | 2021 | 51 | 0.710 |
Why?
|
| Laboratories | 3 | 2023 | 89 | 0.660 |
Why?
|
| Chromosome Disorders | 1 | 2021 | 313 | 0.620 |
Why?
|
| Neurodevelopmental Disorders | 4 | 2025 | 548 | 0.590 |
Why?
|
| Genetic Predisposition to Disease | 6 | 2025 | 3363 | 0.590 |
Why?
|
| Genome-Wide Association Study | 2 | 2025 | 1838 | 0.560 |
Why?
|
| Polymorphism, Single Nucleotide | 3 | 2025 | 2855 | 0.530 |
Why?
|
| Mutation | 14 | 2025 | 6343 | 0.490 |
Why?
|
| Intellectual Disability | 4 | 2024 | 1096 | 0.470 |
Why?
|
| Epilepsy | 4 | 2024 | 897 | 0.460 |
Why?
|
| Mitochondrial Diseases | 3 | 2025 | 151 | 0.450 |
Why?
|
| Phenotype | 11 | 2025 | 4577 | 0.390 |
Why?
|
| Exome | 8 | 2024 | 1086 | 0.370 |
Why?
|
| Congenital Abnormalities | 2 | 2025 | 301 | 0.360 |
Why?
|
| Microcephaly | 3 | 2025 | 354 | 0.350 |
Why?
|
| Rare Diseases | 2 | 2023 | 209 | 0.340 |
Why?
|
| Fibroblasts | 3 | 2024 | 890 | 0.320 |
Why?
|
| Genetic Association Studies | 4 | 2024 | 860 | 0.320 |
Why?
|
| DNA, Mitochondrial | 3 | 2025 | 243 | 0.300 |
Why?
|
| Germ-Line Mutation | 2 | 2024 | 368 | 0.290 |
Why?
|
| Hernias, Diaphragmatic, Congenital | 2 | 2024 | 422 | 0.290 |
Why?
|
| Humans | 46 | 2025 | 133373 | 0.290 |
Why?
|
| Mitochondrial Proteins | 3 | 2018 | 256 | 0.290 |
Why?
|
| Autism Spectrum Disorder | 2 | 2023 | 430 | 0.270 |
Why?
|
| DNA-Binding Proteins | 5 | 2024 | 2145 | 0.260 |
Why?
|
| Genetic Testing | 4 | 2025 | 1101 | 0.260 |
Why?
|
| Zebrafish Proteins | 2 | 2025 | 130 | 0.250 |
Why?
|
| Pedigree | 4 | 2025 | 1730 | 0.250 |
Why?
|
| DNA Methylation | 3 | 2025 | 1140 | 0.240 |
Why?
|
| Prenatal Diagnosis | 3 | 2025 | 633 | 0.230 |
Why?
|
| Exons | 3 | 2022 | 825 | 0.230 |
Why?
|
| Chromothripsis | 1 | 2025 | 10 | 0.230 |
Why?
|
| Spindle Apparatus | 1 | 2025 | 50 | 0.230 |
Why?
|
| DNA-Directed DNA Polymerase | 1 | 2025 | 94 | 0.230 |
Why?
|
| Glutarates | 1 | 2024 | 37 | 0.230 |
Why?
|
| NIMA-Related Kinases | 1 | 2024 | 13 | 0.230 |
Why?
|
| Chromosomes, Human, Pair 3 | 1 | 2025 | 95 | 0.230 |
Why?
|
| Sequence Analysis, RNA | 2 | 2025 | 424 | 0.220 |
Why?
|
| Chromosome Inversion | 1 | 2024 | 77 | 0.220 |
Why?
|
| Cryptorchidism | 1 | 2024 | 37 | 0.220 |
Why?
|
| Chromosomes, Human, Pair 5 | 1 | 2025 | 111 | 0.220 |
Why?
|
| Interferons | 1 | 2025 | 144 | 0.220 |
Why?
|
| Stillbirth | 1 | 2025 | 103 | 0.220 |
Why?
|
| Methyltransferases | 1 | 2025 | 83 | 0.220 |
Why?
|
| Mediator Complex | 1 | 2024 | 61 | 0.220 |
Why?
|
| Female | 25 | 2025 | 71503 | 0.220 |
Why?
|
| Medically Underserved Area | 1 | 2024 | 93 | 0.210 |
Why?
|
| TRPP Cation Channels | 1 | 2023 | 4 | 0.210 |
Why?
|
| Muscular Dystrophy, Duchenne | 1 | 2024 | 68 | 0.210 |
Why?
|
| Osteogenesis Imperfecta | 2 | 2023 | 172 | 0.210 |
Why?
|
| Polycystic Kidney, Autosomal Dominant | 1 | 2023 | 16 | 0.210 |
Why?
|
| Metabolism, Inborn Errors | 1 | 2024 | 121 | 0.210 |
Why?
|
| Infant | 9 | 2025 | 13243 | 0.210 |
Why?
|
| Genes, Dominant | 2 | 2020 | 253 | 0.200 |
Why?
|
| Child, Preschool | 12 | 2025 | 14873 | 0.200 |
Why?
|
| Chromosomal Proteins, Non-Histone | 2 | 2021 | 206 | 0.190 |
Why?
|
| Calcium Channels, N-Type | 1 | 2022 | 25 | 0.190 |
Why?
|
| Epilepsy, Generalized | 1 | 2023 | 65 | 0.190 |
Why?
|
| Pulmonary Surfactant-Associated Proteins | 1 | 2022 | 5 | 0.190 |
Why?
|
| Pulmonary Surfactant-Associated Protein C | 1 | 2022 | 5 | 0.190 |
Why?
|
| rab5 GTP-Binding Proteins | 1 | 2022 | 13 | 0.190 |
Why?
|
| Sertoli-Leydig Cell Tumor | 1 | 2022 | 18 | 0.190 |
Why?
|
| Male | 19 | 2025 | 65592 | 0.180 |
Why?
|
| RNA, Long Noncoding | 1 | 2024 | 248 | 0.180 |
Why?
|
| Abnormalities, Multiple | 3 | 2024 | 983 | 0.180 |
Why?
|
| Machine Learning | 1 | 2025 | 344 | 0.180 |
Why?
|
| Aniridia | 1 | 2021 | 11 | 0.180 |
Why?
|
| Micrognathism | 1 | 2021 | 68 | 0.180 |
Why?
|
| Ribonuclease III | 1 | 2022 | 103 | 0.180 |
Why?
|
| Protein Precursors | 1 | 2022 | 154 | 0.180 |
Why?
|
| Inositol 1,4,5-Trisphosphate Receptors | 1 | 2021 | 34 | 0.180 |
Why?
|
| Child | 15 | 2025 | 25868 | 0.170 |
Why?
|
| Hand Deformities, Congenital | 1 | 2021 | 95 | 0.170 |
Why?
|
| Metabolomics | 1 | 2024 | 471 | 0.170 |
Why?
|
| Calcineurin | 1 | 2021 | 100 | 0.170 |
Why?
|
| Movement Disorders | 1 | 2023 | 223 | 0.170 |
Why?
|
| DEAD-box RNA Helicases | 1 | 2022 | 150 | 0.170 |
Why?
|
| Cerebellar Ataxia | 1 | 2021 | 69 | 0.170 |
Why?
|
| Cytokine Receptor gp130 | 1 | 2020 | 13 | 0.170 |
Why?
|
| Sudden Infant Death | 1 | 2020 | 36 | 0.170 |
Why?
|
| Job Syndrome | 1 | 2020 | 17 | 0.170 |
Why?
|
| Introns | 1 | 2021 | 317 | 0.160 |
Why?
|
| Mutation, Missense | 2 | 2025 | 946 | 0.160 |
Why?
|
| INDEL Mutation | 1 | 2020 | 94 | 0.160 |
Why?
|
| Repressor Proteins | 1 | 2025 | 872 | 0.160 |
Why?
|
| Developmental Disabilities | 2 | 2023 | 747 | 0.160 |
Why?
|
| Health Services Accessibility | 1 | 2024 | 659 | 0.150 |
Why?
|
| Phenylalanine-tRNA Ligase | 1 | 2018 | 3 | 0.150 |
Why?
|
| Retrospective Studies | 8 | 2025 | 17568 | 0.150 |
Why?
|
| Mitochondria | 3 | 2018 | 755 | 0.150 |
Why?
|
| Technology | 1 | 2019 | 70 | 0.150 |
Why?
|
| Microarray Analysis | 1 | 2019 | 238 | 0.150 |
Why?
|
| Amino Acyl-tRNA Synthetases | 1 | 2018 | 26 | 0.150 |
Why?
|
| Education | 1 | 2019 | 111 | 0.140 |
Why?
|
| Sequence Analysis, DNA | 3 | 2019 | 1830 | 0.140 |
Why?
|
| Testis | 1 | 2020 | 433 | 0.140 |
Why?
|
| Heredodegenerative Disorders, Nervous System | 1 | 2018 | 11 | 0.140 |
Why?
|
| Telemedicine | 1 | 2024 | 507 | 0.140 |
Why?
|
| DNA Mutational Analysis | 2 | 2021 | 841 | 0.140 |
Why?
|
| Genomics | 2 | 2024 | 1676 | 0.140 |
Why?
|
| Genetic Variation | 2 | 2022 | 1597 | 0.140 |
Why?
|
| Tumor Suppressor Proteins | 1 | 2020 | 502 | 0.140 |
Why?
|
| Genome, Human | 1 | 2024 | 1340 | 0.140 |
Why?
|
| Skin | 1 | 2021 | 542 | 0.140 |
Why?
|
| F-Box Proteins | 1 | 2017 | 38 | 0.140 |
Why?
|
| Mitochondrial Encephalomyopathies | 1 | 2017 | 29 | 0.140 |
Why?
|
| Ovarian Neoplasms | 1 | 2022 | 468 | 0.140 |
Why?
|
| Peripheral Nervous System Diseases | 1 | 2018 | 138 | 0.130 |
Why?
|
| Ultrasonography, Prenatal | 2 | 2019 | 1008 | 0.120 |
Why?
|
| Multiplex Polymerase Chain Reaction | 1 | 2015 | 33 | 0.120 |
Why?
|
| Adult | 8 | 2025 | 31684 | 0.120 |
Why?
|
| DNA Repair Enzymes | 1 | 2015 | 45 | 0.120 |
Why?
|
| Colorectal Neoplasms, Hereditary Nonpolyposis | 1 | 2015 | 65 | 0.120 |
Why?
|
| Fetus | 1 | 2018 | 601 | 0.110 |
Why?
|
| Ubiquitin-Protein Ligases | 1 | 2017 | 392 | 0.110 |
Why?
|
| Adenosine Triphosphatases | 1 | 2015 | 202 | 0.110 |
Why?
|
| Embryonic Stem Cells | 1 | 2015 | 177 | 0.110 |
Why?
|
| Nuclear Proteins | 1 | 2020 | 1341 | 0.110 |
Why?
|
| Intensive Care Units, Pediatric | 1 | 2017 | 485 | 0.110 |
Why?
|
| Liver Diseases | 1 | 2018 | 389 | 0.100 |
Why?
|
| DNA (Cytosine-5-)-Methyltransferases | 1 | 2015 | 158 | 0.100 |
Why?
|
| Adolescent | 8 | 2024 | 20573 | 0.100 |
Why?
|
| Transcription Factors | 1 | 2023 | 2720 | 0.100 |
Why?
|
| Animals | 9 | 2025 | 36222 | 0.100 |
Why?
|
| Facies | 2 | 2024 | 156 | 0.100 |
Why?
|
| Loss of Function Mutation | 2 | 2024 | 162 | 0.090 |
Why?
|
| Haploinsufficiency | 2 | 2024 | 274 | 0.090 |
Why?
|
| United States | 4 | 2019 | 11722 | 0.090 |
Why?
|
| Caenorhabditis elegans | 2 | 2023 | 244 | 0.090 |
Why?
|
| Middle Aged | 4 | 2025 | 28985 | 0.090 |
Why?
|
| Zebrafish | 2 | 2025 | 422 | 0.080 |
Why?
|
| Membrane Proteins | 1 | 2018 | 1612 | 0.080 |
Why?
|
| Texas | 3 | 2024 | 3666 | 0.080 |
Why?
|
| Neoplasms | 1 | 2024 | 2992 | 0.080 |
Why?
|
| Cell Membrane | 2 | 2022 | 483 | 0.080 |
Why?
|
| Genetics | 2 | 2019 | 25 | 0.070 |
Why?
|
| Gene Deletion | 2 | 2024 | 806 | 0.070 |
Why?
|
| Drosophila melanogaster | 2 | 2025 | 844 | 0.070 |
Why?
|
| High-Throughput Nucleotide Sequencing | 3 | 2019 | 964 | 0.070 |
Why?
|
| Gene Expression Regulation | 1 | 2015 | 2651 | 0.060 |
Why?
|
| Alleles | 2 | 2021 | 1697 | 0.060 |
Why?
|
| DNA Polymerase gamma | 1 | 2025 | 21 | 0.060 |
Why?
|
| Pregnancy | 3 | 2025 | 7602 | 0.060 |
Why?
|
| Centrosome | 1 | 2025 | 22 | 0.060 |
Why?
|
| MEF2 Transcription Factors | 1 | 2025 | 37 | 0.060 |
Why?
|
| Chromosome Segregation | 1 | 2025 | 68 | 0.060 |
Why?
|
| Base Sequence | 2 | 2022 | 3153 | 0.060 |
Why?
|
| Genetic Services | 1 | 2024 | 8 | 0.060 |
Why?
|
| Anus, Imperforate | 1 | 2024 | 20 | 0.060 |
Why?
|
| Pan troglodytes | 1 | 2024 | 75 | 0.060 |
Why?
|
| Blepharophimosis | 1 | 2024 | 26 | 0.060 |
Why?
|
| Zinc Fingers | 1 | 2025 | 125 | 0.060 |
Why?
|
| Agenesis of Corpus Callosum | 1 | 2024 | 44 | 0.060 |
Why?
|
| RNA Splice Sites | 1 | 2024 | 99 | 0.050 |
Why?
|
| Genetic Diseases, X-Linked | 1 | 2024 | 79 | 0.050 |
Why?
|
| Infant, Newborn | 3 | 2024 | 8632 | 0.050 |
Why?
|
| Blepharoptosis | 1 | 2024 | 65 | 0.050 |
Why?
|
| NIH 3T3 Cells | 1 | 2023 | 96 | 0.050 |
Why?
|
| Quantitative Trait Loci | 1 | 2025 | 314 | 0.050 |
Why?
|
| Constipation | 1 | 2024 | 128 | 0.050 |
Why?
|
| RNA Splicing | 1 | 2025 | 254 | 0.050 |
Why?
|
| Germ Cells | 1 | 2024 | 203 | 0.050 |
Why?
|
| 4-Aminopyridine | 1 | 2023 | 35 | 0.050 |
Why?
|
| In Situ Hybridization, Fluorescence | 1 | 2025 | 781 | 0.050 |
Why?
|
| Kv1.1 Potassium Channel | 1 | 2023 | 42 | 0.050 |
Why?
|
| Gait | 1 | 2023 | 141 | 0.050 |
Why?
|
| Cleft Palate | 1 | 2024 | 153 | 0.050 |
Why?
|
| Heterozygote | 1 | 2025 | 731 | 0.050 |
Why?
|
| Sequence Deletion | 1 | 2024 | 541 | 0.050 |
Why?
|
| Calcium Channels, L-Type | 1 | 2022 | 53 | 0.050 |
Why?
|
| Homologous Recombination | 1 | 2022 | 100 | 0.050 |
Why?
|
| Transposases | 1 | 2022 | 45 | 0.050 |
Why?
|
| Gain of Function Mutation | 1 | 2023 | 116 | 0.050 |
Why?
|
| Histidine | 1 | 2022 | 75 | 0.050 |
Why?
|
| Cells, Cultured | 2 | 2020 | 3131 | 0.050 |
Why?
|
| Alveolar Epithelial Cells | 1 | 2022 | 37 | 0.050 |
Why?
|
| Pulmonary Surfactants | 1 | 2022 | 45 | 0.050 |
Why?
|
| Calcium Channels | 1 | 2022 | 165 | 0.050 |
Why?
|
| Chromosome Deletion | 1 | 2025 | 664 | 0.050 |
Why?
|
| Signal Transduction | 2 | 2025 | 4917 | 0.050 |
Why?
|
| CRISPR-Cas Systems | 1 | 2024 | 298 | 0.050 |
Why?
|
| Phosphoric Monoester Hydrolases | 1 | 2022 | 106 | 0.040 |
Why?
|
| Neurons | 2 | 2022 | 2050 | 0.040 |
Why?
|
| Down-Regulation | 1 | 2023 | 714 | 0.040 |
Why?
|
| Mammals | 1 | 2022 | 282 | 0.040 |
Why?
|
| TOR Serine-Threonine Kinases | 1 | 2023 | 453 | 0.040 |
Why?
|
| Amish | 1 | 2020 | 11 | 0.040 |
Why?
|
| Symptom Assessment | 1 | 2021 | 109 | 0.040 |
Why?
|
| Age of Onset | 1 | 2022 | 628 | 0.040 |
Why?
|
| Mice | 3 | 2024 | 18936 | 0.040 |
Why?
|
| Lung Diseases, Interstitial | 1 | 2022 | 176 | 0.040 |
Why?
|
| Actins | 1 | 2021 | 344 | 0.040 |
Why?
|
| Th2 Cells | 1 | 2020 | 189 | 0.040 |
Why?
|
| Healthcare Disparities | 1 | 2024 | 484 | 0.040 |
Why?
|
| Proteomics | 1 | 2023 | 605 | 0.040 |
Why?
|
| Genetics, Population | 1 | 2020 | 192 | 0.040 |
Why?
|
| Microscopy, Confocal | 1 | 2020 | 366 | 0.040 |
Why?
|
| Thanatophoric Dysplasia | 1 | 2019 | 6 | 0.040 |
Why?
|
| Limit of Detection | 1 | 2019 | 77 | 0.040 |
Why?
|
| Nuchal Translucency Measurement | 1 | 2019 | 18 | 0.040 |
Why?
|
| Lymphangioma, Cystic | 1 | 2019 | 18 | 0.040 |
Why?
|
| Artificial Intelligence | 1 | 2023 | 297 | 0.040 |
Why?
|
| Achondroplasia | 1 | 2019 | 24 | 0.040 |
Why?
|
| Acrocephalosyndactylia | 1 | 2019 | 22 | 0.040 |
Why?
|
| De Lange Syndrome | 1 | 2019 | 45 | 0.040 |
Why?
|
| Neuroglia | 1 | 2020 | 214 | 0.040 |
Why?
|
| Collagen Type I | 1 | 2019 | 126 | 0.040 |
Why?
|
| Accreditation | 1 | 2019 | 94 | 0.040 |
Why?
|
| Hydrops Fetalis | 1 | 2019 | 85 | 0.040 |
Why?
|
| Cell-Free Nucleic Acids | 1 | 2019 | 61 | 0.040 |
Why?
|
| Drug Resistant Epilepsy | 1 | 2021 | 225 | 0.040 |
Why?
|
| Seizures | 1 | 2023 | 889 | 0.040 |
Why?
|
| Carrier Proteins | 1 | 2023 | 1072 | 0.040 |
Why?
|
| Kinetics | 1 | 2020 | 1323 | 0.040 |
Why?
|
| Inheritance Patterns | 1 | 2018 | 131 | 0.040 |
Why?
|
| Paraplegia | 1 | 2018 | 89 | 0.040 |
Why?
|
| Phenylalanine | 1 | 2018 | 134 | 0.040 |
Why?
|
| Case-Control Studies | 1 | 2025 | 3418 | 0.040 |
Why?
|
| Reproducibility of Results | 1 | 2025 | 3043 | 0.040 |
Why?
|
| Infant Care | 1 | 2017 | 47 | 0.040 |
Why?
|
| HEK293 Cells | 1 | 2020 | 824 | 0.030 |
Why?
|
| Acidosis, Lactic | 1 | 2017 | 30 | 0.030 |
Why?
|
| Up-Regulation | 1 | 2020 | 910 | 0.030 |
Why?
|
| C-Reactive Protein | 1 | 2020 | 470 | 0.030 |
Why?
|
| Calcium | 1 | 2022 | 1099 | 0.030 |
Why?
|
| Electronic Health Records | 1 | 2024 | 804 | 0.030 |
Why?
|
| Protein Isoforms | 1 | 2018 | 432 | 0.030 |
Why?
|
| Homozygote | 1 | 2019 | 562 | 0.030 |
Why?
|
| Structure-Activity Relationship | 1 | 2018 | 607 | 0.030 |
Why?
|
| Oxidative Phosphorylation | 1 | 2017 | 126 | 0.030 |
Why?
|
| Bone and Bones | 1 | 2019 | 311 | 0.030 |
Why?
|
| Gene Expression | 1 | 2021 | 1608 | 0.030 |
Why?
|
| Protein Binding | 1 | 2020 | 1852 | 0.030 |
Why?
|
| Chromosome Aberrations | 1 | 2019 | 591 | 0.030 |
Why?
|
| Cardiomyopathy, Hypertrophic | 1 | 2017 | 157 | 0.030 |
Why?
|
| Genetic Counseling | 1 | 2017 | 246 | 0.030 |
Why?
|
| Mismatch Repair Endonuclease PMS2 | 1 | 2015 | 11 | 0.030 |
Why?
|
| DNA (Cytosine-5-)-Methyltransferase 1 | 1 | 2015 | 25 | 0.030 |
Why?
|
| Terminal Repeat Sequences | 1 | 2015 | 19 | 0.030 |
Why?
|
| Proteome | 1 | 2017 | 282 | 0.030 |
Why?
|
| Base Composition | 1 | 2015 | 74 | 0.030 |
Why?
|
| Long Interspersed Nucleotide Elements | 1 | 2015 | 37 | 0.030 |
Why?
|
| Family | 1 | 2018 | 593 | 0.030 |
Why?
|
| Young Adult | 2 | 2020 | 9923 | 0.030 |
Why?
|
| Models, Biological | 1 | 2020 | 1531 | 0.030 |
Why?
|
| Drosophila Proteins | 1 | 2020 | 771 | 0.030 |
Why?
|
| Kaplan-Meier Estimate | 1 | 2017 | 1137 | 0.030 |
Why?
|
| Cytokines | 1 | 2020 | 1378 | 0.030 |
Why?
|
| Lung | 1 | 2022 | 1571 | 0.030 |
Why?
|
| Gene Dosage | 1 | 2015 | 456 | 0.030 |
Why?
|
| Disease Management | 1 | 2017 | 565 | 0.030 |
Why?
|
| Predictive Value of Tests | 1 | 2019 | 2288 | 0.030 |
Why?
|
| Heart Defects, Congenital | 1 | 2024 | 1887 | 0.020 |
Why?
|
| Brain | 1 | 2024 | 3223 | 0.020 |
Why?
|
| Genome | 1 | 2015 | 528 | 0.020 |
Why?
|
| Prospective Studies | 1 | 2023 | 6582 | 0.020 |
Why?
|
| Critical Care | 1 | 2017 | 698 | 0.020 |
Why?
|
| Length of Stay | 1 | 2017 | 1393 | 0.020 |
Why?
|
| Polymerase Chain Reaction | 1 | 2015 | 1583 | 0.020 |
Why?
|
| Molecular Sequence Data | 1 | 2015 | 3960 | 0.020 |
Why?
|
| Liver | 1 | 2018 | 1860 | 0.020 |
Why?
|
| Transcription, Genetic | 1 | 2015 | 1757 | 0.020 |
Why?
|
| Proteins | 1 | 2015 | 1090 | 0.020 |
Why?
|
| DNA | 1 | 2015 | 1676 | 0.020 |
Why?
|
| Magnetic Resonance Imaging | 1 | 2021 | 3869 | 0.020 |
Why?
|
| Mice, Knockout | 1 | 2015 | 3979 | 0.020 |
Why?
|