Name |
Number of Publications
|
Most Recent Publication
|
Publications by All Authors
|
Concept Score
|
Why?
|
---|
Alagille Syndrome | 4 | 2019 | 47 | 1.240 |
Why?
|
DNA Copy Number Variations | 15 | 2024 | 941 | 1.030 |
Why?
|
Mosaicism | 6 | 2024 | 240 | 0.890 |
Why?
|
Haplotypes | 2 | 2024 | 517 | 0.850 |
Why?
|
Polymerase Chain Reaction | 2 | 2024 | 1584 | 0.830 |
Why?
|
Polymorphism, Single Nucleotide | 7 | 2024 | 2582 | 0.730 |
Why?
|
Psychotic Disorders | 2 | 2019 | 140 | 0.690 |
Why?
|
Neurodevelopmental Disorders | 6 | 2024 | 485 | 0.680 |
Why?
|
Genetic Markers | 2 | 2019 | 605 | 0.670 |
Why?
|
Pedigree | 14 | 2023 | 1581 | 0.620 |
Why?
|
Gene Duplication | 5 | 2024 | 358 | 0.610 |
Why?
|
Calcium-Binding Proteins | 3 | 2015 | 327 | 0.590 |
Why?
|
Intercellular Signaling Peptides and Proteins | 3 | 2015 | 281 | 0.590 |
Why?
|
Comparative Genomic Hybridization | 8 | 2024 | 574 | 0.580 |
Why?
|
Genetic Predisposition to Disease | 10 | 2020 | 3077 | 0.540 |
Why?
|
Phenotype | 11 | 2024 | 4227 | 0.540 |
Why?
|
Chromosome Disorders | 1 | 2018 | 309 | 0.510 |
Why?
|
Intellectual Disability | 5 | 2023 | 1042 | 0.510 |
Why?
|
Mutation | 13 | 2022 | 5772 | 0.500 |
Why?
|
Pulmonary Valve Stenosis | 1 | 2015 | 40 | 0.500 |
Why?
|
Membrane Proteins | 4 | 2020 | 1523 | 0.490 |
Why?
|
Exome | 6 | 2020 | 1041 | 0.470 |
Why?
|
Bipolar Disorder | 1 | 2018 | 346 | 0.470 |
Why?
|
Biliary Atresia | 4 | 2020 | 187 | 0.450 |
Why?
|
Adenosine Triphosphatases | 1 | 2015 | 208 | 0.450 |
Why?
|
Tetralogy of Fallot | 1 | 2015 | 161 | 0.450 |
Why?
|
Gene Rearrangement | 5 | 2024 | 327 | 0.440 |
Why?
|
Jagged-1 Protein | 4 | 2019 | 51 | 0.440 |
Why?
|
Genome, Human | 4 | 2024 | 1264 | 0.440 |
Why?
|
Chromosome Inversion | 2 | 2024 | 76 | 0.410 |
Why?
|
High-Throughput Nucleotide Sequencing | 6 | 2024 | 861 | 0.400 |
Why?
|
Chromosomes, Human, Pair 2 | 2 | 2024 | 119 | 0.370 |
Why?
|
Arthrogryposis | 2 | 2022 | 33 | 0.360 |
Why?
|
Mutation, Missense | 3 | 2020 | 846 | 0.360 |
Why?
|
Heterozygote | 4 | 2020 | 672 | 0.350 |
Why?
|
Methyl-CpG-Binding Protein 2 | 2 | 2024 | 306 | 0.350 |
Why?
|
Heterotaxy Syndrome | 2 | 2024 | 62 | 0.330 |
Why?
|
Urogenital Abnormalities | 2 | 2023 | 169 | 0.330 |
Why?
|
Chromosome Duplication | 2 | 2021 | 147 | 0.320 |
Why?
|
Genomic Structural Variation | 3 | 2024 | 79 | 0.320 |
Why?
|
Genomics | 6 | 2022 | 1475 | 0.310 |
Why?
|
Humans | 48 | 2024 | 123092 | 0.310 |
Why?
|
Microcephaly | 2 | 2023 | 328 | 0.300 |
Why?
|
alpha7 Nicotinic Acetylcholine Receptor | 2 | 2018 | 57 | 0.300 |
Why?
|
Receptor, Notch2 | 2 | 2019 | 8 | 0.290 |
Why?
|
Abnormalities, Multiple | 3 | 2022 | 964 | 0.280 |
Why?
|
Serrate-Jagged Proteins | 3 | 2015 | 38 | 0.280 |
Why?
|
Whole Genome Sequencing | 4 | 2024 | 281 | 0.260 |
Why?
|
Genetic Association Studies | 5 | 2020 | 761 | 0.250 |
Why?
|
Translocation, Genetic | 2 | 2024 | 352 | 0.240 |
Why?
|
Chromosomes, Human, Pair 18 | 1 | 2024 | 63 | 0.230 |
Why?
|
Rare Diseases | 2 | 2024 | 186 | 0.220 |
Why?
|
Genomic Instability | 2 | 2022 | 229 | 0.220 |
Why?
|
Male | 26 | 2024 | 60091 | 0.220 |
Why?
|
Gene Deletion | 2 | 2017 | 793 | 0.210 |
Why?
|
Genes, Dominant | 2 | 2020 | 248 | 0.210 |
Why?
|
46, XX Disorders of Sex Development | 1 | 2023 | 22 | 0.210 |
Why?
|
Homologous Recombination | 2 | 2020 | 92 | 0.210 |
Why?
|
Female | 26 | 2024 | 65538 | 0.210 |
Why?
|
Fluorescent Dyes | 1 | 2024 | 260 | 0.210 |
Why?
|
Transposition of Great Vessels | 1 | 2024 | 132 | 0.210 |
Why?
|
Myokymia | 1 | 2022 | 8 | 0.210 |
Why?
|
Contracture | 1 | 2022 | 24 | 0.200 |
Why?
|
Polydactyly | 1 | 2022 | 17 | 0.200 |
Why?
|
Software | 2 | 2024 | 676 | 0.200 |
Why?
|
Apyrase | 1 | 2022 | 18 | 0.200 |
Why?
|
Spastic Paraplegia, Hereditary | 1 | 2022 | 29 | 0.200 |
Why?
|
Kidney Diseases, Cystic | 1 | 2022 | 39 | 0.200 |
Why?
|
Microtubule-Associated Proteins | 2 | 2023 | 245 | 0.200 |
Why?
|
Megalencephaly | 1 | 2022 | 58 | 0.200 |
Why?
|
Musculoskeletal Abnormalities | 1 | 2022 | 73 | 0.190 |
Why?
|
Cation Transport Proteins | 1 | 2022 | 96 | 0.190 |
Why?
|
Eye Abnormalities | 1 | 2022 | 106 | 0.190 |
Why?
|
Karyotyping | 2 | 2020 | 330 | 0.190 |
Why?
|
Neoplasms | 1 | 2015 | 2758 | 0.180 |
Why?
|
Genome-Wide Association Study | 3 | 2020 | 1638 | 0.180 |
Why?
|
Real-Time Polymerase Chain Reaction | 2 | 2020 | 510 | 0.180 |
Why?
|
Alu Elements | 1 | 2021 | 64 | 0.180 |
Why?
|
Dishevelled Proteins | 1 | 2020 | 43 | 0.180 |
Why?
|
Symporters | 1 | 2021 | 66 | 0.180 |
Why?
|
DNA End-Joining Repair | 1 | 2020 | 34 | 0.180 |
Why?
|
Epilepsy, Generalized | 1 | 2021 | 64 | 0.180 |
Why?
|
Receptor Tyrosine Kinase-like Orphan Receptors | 1 | 2020 | 36 | 0.180 |
Why?
|
Oxidoreductases | 1 | 2020 | 92 | 0.180 |
Why?
|
Nucleotidyltransferases | 1 | 2020 | 45 | 0.170 |
Why?
|
ATPases Associated with Diverse Cellular Activities | 1 | 2020 | 67 | 0.170 |
Why?
|
HSP90 Heat-Shock Proteins | 1 | 2020 | 35 | 0.170 |
Why?
|
Homozygote | 4 | 2024 | 534 | 0.170 |
Why?
|
Myelin Proteolipid Protein | 1 | 2019 | 27 | 0.170 |
Why?
|
Lissencephaly | 1 | 2019 | 10 | 0.170 |
Why?
|
White Matter | 1 | 2022 | 181 | 0.170 |
Why?
|
Myosin Heavy Chains | 1 | 2020 | 77 | 0.170 |
Why?
|
Limb Deformities, Congenital | 1 | 2020 | 105 | 0.170 |
Why?
|
Dwarfism | 1 | 2020 | 101 | 0.170 |
Why?
|
Muscle, Smooth | 1 | 2020 | 136 | 0.170 |
Why?
|
Glycine Dehydrogenase (Decarboxylating) | 1 | 2019 | 3 | 0.170 |
Why?
|
Glycine Agents | 1 | 2019 | 10 | 0.160 |
Why?
|
Affective Disorders, Psychotic | 1 | 2019 | 7 | 0.160 |
Why?
|
Wolff-Parkinson-White Syndrome | 1 | 2020 | 73 | 0.160 |
Why?
|
Chromosome Aberrations | 2 | 2021 | 614 | 0.160 |
Why?
|
Heat-Shock Proteins | 1 | 2020 | 194 | 0.160 |
Why?
|
RNA Helicases | 1 | 2019 | 63 | 0.160 |
Why?
|
Heart Defects, Congenital | 2 | 2024 | 1806 | 0.160 |
Why?
|
Craniofacial Abnormalities | 1 | 2020 | 244 | 0.150 |
Why?
|
AMP-Activated Protein Kinases | 1 | 2020 | 165 | 0.150 |
Why?
|
Multifactorial Inheritance | 1 | 2019 | 136 | 0.150 |
Why?
|
Loss of Function Mutation | 1 | 2019 | 142 | 0.150 |
Why?
|
DEAD-box RNA Helicases | 1 | 2019 | 118 | 0.150 |
Why?
|
Mitochondrial Proteins | 1 | 2020 | 239 | 0.150 |
Why?
|
Glycine | 1 | 2019 | 167 | 0.150 |
Why?
|
Mitochondrial Diseases | 1 | 2020 | 135 | 0.150 |
Why?
|
Psychotropic Drugs | 1 | 2019 | 124 | 0.150 |
Why?
|
Receptors, N-Methyl-D-Aspartate | 1 | 2019 | 148 | 0.150 |
Why?
|
Extracellular Matrix Proteins | 1 | 2018 | 147 | 0.150 |
Why?
|
Chromosomes, Human, Pair 9 | 1 | 2018 | 106 | 0.150 |
Why?
|
Child | 12 | 2024 | 24231 | 0.150 |
Why?
|
Sequence Deletion | 2 | 2021 | 527 | 0.140 |
Why?
|
DNA Mutational Analysis | 2 | 2020 | 793 | 0.140 |
Why?
|
Cholesterol | 1 | 2020 | 525 | 0.140 |
Why?
|
DNA Repair | 1 | 2020 | 579 | 0.140 |
Why?
|
Risperidone | 1 | 2017 | 60 | 0.140 |
Why?
|
Infant | 10 | 2021 | 12357 | 0.140 |
Why?
|
In Situ Hybridization, Fluorescence | 1 | 2018 | 757 | 0.130 |
Why?
|
Nerve Tissue Proteins | 1 | 2022 | 1114 | 0.130 |
Why?
|
Genetic Diseases, Inborn | 1 | 2020 | 448 | 0.130 |
Why?
|
Infant, Newborn | 8 | 2023 | 8111 | 0.130 |
Why?
|
Genetic Diseases, X-Linked | 1 | 2015 | 65 | 0.120 |
Why?
|
Hepatocyte Nuclear Factor 3-beta | 1 | 2015 | 28 | 0.120 |
Why?
|
Hypopituitarism | 1 | 2015 | 15 | 0.120 |
Why?
|
Twins, Monozygotic | 1 | 2015 | 117 | 0.120 |
Why?
|
Mitochondria | 1 | 2020 | 677 | 0.120 |
Why?
|
Neoplasm Proteins | 1 | 2019 | 667 | 0.120 |
Why?
|
Siblings | 1 | 2015 | 196 | 0.120 |
Why?
|
Environment | 1 | 2015 | 142 | 0.120 |
Why?
|
Gene Knockdown Techniques | 1 | 2015 | 350 | 0.120 |
Why?
|
Lymphoproliferative Disorders | 1 | 2015 | 224 | 0.110 |
Why?
|
Protein Kinases | 1 | 2015 | 330 | 0.110 |
Why?
|
Hypoxia | 1 | 2015 | 247 | 0.110 |
Why?
|
Antipsychotic Agents | 1 | 2017 | 375 | 0.110 |
Why?
|
Child, Preschool | 7 | 2024 | 13884 | 0.110 |
Why?
|
Chromosomes, Human, Pair 10 | 1 | 2013 | 65 | 0.110 |
Why?
|
Calmodulin-Binding Proteins | 1 | 2013 | 63 | 0.110 |
Why?
|
Depressive Disorder, Major | 1 | 2018 | 398 | 0.110 |
Why?
|
Genetic Variation | 1 | 2019 | 1477 | 0.100 |
Why?
|
Atrial Fibrillation | 1 | 2020 | 626 | 0.100 |
Why?
|
Sequence Analysis, DNA | 4 | 2024 | 1753 | 0.100 |
Why?
|
Cohort Studies | 5 | 2021 | 4703 | 0.100 |
Why?
|
Genetic Heterogeneity | 2 | 2024 | 123 | 0.100 |
Why?
|
Anxiety Disorders | 1 | 2018 | 674 | 0.100 |
Why?
|
Young Adult | 6 | 2021 | 8839 | 0.100 |
Why?
|
Liver Diseases | 1 | 2015 | 363 | 0.100 |
Why?
|
Placenta | 1 | 2015 | 493 | 0.090 |
Why?
|
Alleles | 3 | 2024 | 1604 | 0.090 |
Why?
|
Inflammatory Bowel Diseases | 1 | 2015 | 314 | 0.090 |
Why?
|
Base Sequence | 1 | 2015 | 3093 | 0.090 |
Why?
|
DNA-Binding Proteins | 3 | 2022 | 2054 | 0.080 |
Why?
|
Chromosomes, Human, Pair 17 | 2 | 2021 | 371 | 0.080 |
Why?
|
Adult | 8 | 2021 | 29018 | 0.080 |
Why?
|
Kidney Failure, Chronic | 1 | 2015 | 864 | 0.070 |
Why?
|
Adolescent | 6 | 2021 | 19104 | 0.070 |
Why?
|
Animals | 6 | 2024 | 33794 | 0.070 |
Why?
|
Pan troglodytes | 1 | 2024 | 71 | 0.060 |
Why?
|
Liver | 3 | 2018 | 1736 | 0.060 |
Why?
|
Chloride-Bicarbonate Antiporters | 1 | 2023 | 8 | 0.060 |
Why?
|
Sodium-Bicarbonate Symporters | 1 | 2023 | 14 | 0.060 |
Why?
|
Chromosomes, Human, Pair 5 | 1 | 2024 | 118 | 0.060 |
Why?
|
Bicarbonates | 1 | 2023 | 98 | 0.060 |
Why?
|
Sodium Bicarbonate | 1 | 2023 | 52 | 0.050 |
Why?
|
Parents | 2 | 2020 | 1031 | 0.050 |
Why?
|
Codon, Terminator | 1 | 2023 | 26 | 0.050 |
Why?
|
Iran | 1 | 2023 | 58 | 0.050 |
Why?
|
Arteries | 1 | 2024 | 222 | 0.050 |
Why?
|
Qa-SNARE Proteins | 1 | 2022 | 22 | 0.050 |
Why?
|
ADAMTS Proteins | 1 | 2022 | 9 | 0.050 |
Why?
|
Reverse Genetics | 1 | 2022 | 15 | 0.050 |
Why?
|
Sphingomyelin Phosphodiesterase | 1 | 2022 | 42 | 0.050 |
Why?
|
Membrane Transport Proteins | 1 | 2023 | 177 | 0.050 |
Why?
|
Sodium | 1 | 2023 | 291 | 0.050 |
Why?
|
Dysarthria | 1 | 2022 | 21 | 0.050 |
Why?
|
Nucleotides | 1 | 2022 | 92 | 0.050 |
Why?
|
Consanguinity | 1 | 2022 | 107 | 0.050 |
Why?
|
Frameshift Mutation | 1 | 2023 | 175 | 0.050 |
Why?
|
Endoribonucleases | 1 | 2022 | 83 | 0.050 |
Why?
|
Paraplegia | 1 | 2022 | 91 | 0.050 |
Why?
|
Phosphoprotein Phosphatases | 1 | 2022 | 115 | 0.050 |
Why?
|
Turkey | 1 | 2021 | 58 | 0.050 |
Why?
|
Mice | 3 | 2023 | 17541 | 0.050 |
Why?
|
X Chromosome Inactivation | 1 | 2021 | 63 | 0.050 |
Why?
|
Zinc | 1 | 2022 | 129 | 0.050 |
Why?
|
Hedgehog Proteins | 1 | 2022 | 192 | 0.050 |
Why?
|
Transcription Factors | 2 | 2022 | 2585 | 0.050 |
Why?
|
Mammals | 1 | 2022 | 262 | 0.050 |
Why?
|
Peru | 1 | 2020 | 45 | 0.050 |
Why?
|
Mental Retardation, X-Linked | 1 | 2021 | 77 | 0.050 |
Why?
|
Chromosomes, Human, X | 1 | 2021 | 157 | 0.050 |
Why?
|
Adaptor Proteins, Signal Transducing | 1 | 2024 | 530 | 0.040 |
Why?
|
Ataxia | 1 | 2022 | 168 | 0.040 |
Why?
|
Esophageal Motility Disorders | 1 | 2020 | 13 | 0.040 |
Why?
|
LIM Domain Proteins | 1 | 2020 | 59 | 0.040 |
Why?
|
Corneal Opacity | 1 | 2020 | 23 | 0.040 |
Why?
|
Sequence Homology | 1 | 2020 | 62 | 0.040 |
Why?
|
Genes, Recessive | 1 | 2020 | 176 | 0.040 |
Why?
|
Chromosome Breakpoints | 1 | 2019 | 80 | 0.040 |
Why?
|
Inheritance Patterns | 1 | 2020 | 125 | 0.040 |
Why?
|
Connectin | 1 | 2019 | 27 | 0.040 |
Why?
|
Autoantibodies | 1 | 2022 | 424 | 0.040 |
Why?
|
Intracellular Signaling Peptides and Proteins | 1 | 2022 | 555 | 0.040 |
Why?
|
Electromyography | 1 | 2020 | 163 | 0.040 |
Why?
|
Mutation Rate | 1 | 2019 | 66 | 0.040 |
Why?
|
Proof of Concept Study | 1 | 2019 | 29 | 0.040 |
Why?
|
Axons | 1 | 2022 | 381 | 0.040 |
Why?
|
Tubulin | 1 | 2019 | 106 | 0.040 |
Why?
|
Wnt Signaling Pathway | 1 | 2020 | 195 | 0.040 |
Why?
|
Gene-Environment Interaction | 1 | 2020 | 120 | 0.040 |
Why?
|
Clinical Laboratory Techniques | 1 | 2020 | 141 | 0.040 |
Why?
|
Ankyrins | 1 | 2020 | 99 | 0.040 |
Why?
|
Intestinal Diseases | 1 | 2020 | 83 | 0.040 |
Why?
|
Gastroparesis | 1 | 2020 | 66 | 0.040 |
Why?
|
Muscle Hypotonia | 1 | 2020 | 185 | 0.040 |
Why?
|
Retina | 1 | 2022 | 456 | 0.040 |
Why?
|
Drug Synergism | 1 | 2019 | 239 | 0.040 |
Why?
|
Microtubules | 1 | 2019 | 197 | 0.040 |
Why?
|
Endoscopy, Digestive System | 1 | 2020 | 153 | 0.040 |
Why?
|
Gene Frequency | 1 | 2020 | 713 | 0.040 |
Why?
|
Proteomics | 1 | 2022 | 480 | 0.040 |
Why?
|
Cytoskeletal Proteins | 1 | 2020 | 268 | 0.040 |
Why?
|
Cerebellum | 1 | 2022 | 414 | 0.040 |
Why?
|
Uterus | 1 | 2023 | 594 | 0.040 |
Why?
|
Genotyping Techniques | 1 | 2018 | 101 | 0.040 |
Why?
|
Vesicular Transport Proteins | 1 | 2019 | 120 | 0.040 |
Why?
|
Genotype | 2 | 2015 | 2535 | 0.040 |
Why?
|
RNA-Binding Proteins | 1 | 2022 | 577 | 0.040 |
Why?
|
Random Allocation | 1 | 2019 | 427 | 0.040 |
Why?
|
Organogenesis | 1 | 2018 | 77 | 0.040 |
Why?
|
Nervous System Malformations | 1 | 2019 | 128 | 0.040 |
Why?
|
Protein Conformation | 1 | 2020 | 834 | 0.040 |
Why?
|
Heart Atria | 1 | 2020 | 313 | 0.040 |
Why?
|
Radiography | 1 | 2020 | 822 | 0.040 |
Why?
|
Family | 1 | 2020 | 570 | 0.040 |
Why?
|
Gene Expression Regulation | 2 | 2018 | 2526 | 0.040 |
Why?
|
Middle Aged | 3 | 2021 | 25993 | 0.040 |
Why?
|
Ryanodine Receptor Calcium Release Channel | 1 | 2019 | 233 | 0.030 |
Why?
|
DNA | 1 | 2022 | 1591 | 0.030 |
Why?
|
Quantitative Trait Loci | 1 | 2018 | 282 | 0.030 |
Why?
|
Syndrome | 1 | 2020 | 1115 | 0.030 |
Why?
|
Muscle, Smooth, Vascular | 1 | 2018 | 239 | 0.030 |
Why?
|
Homeodomain Proteins | 1 | 2020 | 545 | 0.030 |
Why?
|
Brain Diseases | 1 | 2020 | 296 | 0.030 |
Why?
|
Genetic Loci | 1 | 2018 | 332 | 0.030 |
Why?
|
NIMA-Related Kinases | 1 | 2015 | 13 | 0.030 |
Why?
|
Cell Movement | 1 | 2019 | 831 | 0.030 |
Why?
|
Mice, Knockout | 1 | 2023 | 3720 | 0.030 |
Why?
|
Drug Therapy, Combination | 1 | 2019 | 1140 | 0.030 |
Why?
|
Amino Acid Sequence | 1 | 2020 | 2696 | 0.030 |
Why?
|
Double-Blind Method | 1 | 2019 | 1590 | 0.030 |
Why?
|
Cardiomyopathies | 1 | 2020 | 478 | 0.030 |
Why?
|
Gene Expression | 1 | 2020 | 1566 | 0.030 |
Why?
|
Gestational Age | 1 | 2019 | 1138 | 0.030 |
Why?
|
Prevalence | 1 | 2021 | 2404 | 0.030 |
Why?
|
Pancreas | 1 | 2015 | 211 | 0.030 |
Why?
|
Facies | 1 | 2015 | 155 | 0.030 |
Why?
|
Carrier Proteins | 1 | 2020 | 1018 | 0.030 |
Why?
|
Seizures | 1 | 2020 | 872 | 0.030 |
Why?
|
Age of Onset | 1 | 2015 | 581 | 0.030 |
Why?
|
Aminopeptidases | 1 | 2013 | 19 | 0.030 |
Why?
|
Logistic Models | 1 | 2018 | 1797 | 0.030 |
Why?
|
Case-Control Studies | 1 | 2020 | 3240 | 0.030 |
Why?
|
Linkage Disequilibrium | 1 | 2013 | 309 | 0.030 |
Why?
|
Rats | 1 | 2018 | 3653 | 0.020 |
Why?
|
Chromosome Mapping | 1 | 2013 | 1081 | 0.020 |
Why?
|
Oligonucleotide Array Sequence Analysis | 1 | 2013 | 1012 | 0.020 |
Why?
|
Biopsy | 1 | 2013 | 1235 | 0.020 |
Why?
|
Neurons | 1 | 2019 | 1935 | 0.020 |
Why?
|
Kidney | 1 | 2015 | 1335 | 0.020 |
Why?
|
Brain | 1 | 2019 | 2961 | 0.020 |
Why?
|
Prospective Studies | 1 | 2017 | 6027 | 0.020 |
Why?
|
Pregnancy | 1 | 2015 | 7162 | 0.010 |
Why?
|
Treatment Outcome | 1 | 2017 | 12119 | 0.010 |
Why?
|
United States | 1 | 2013 | 10645 | 0.010 |
Why?
|