Name |
Number of Publications
|
Most Recent Publication
|
Publications by All Authors
|
Concept Score
|
Why?
|
---|
Alagille Syndrome | 4 | 2019 | 44 | 1.330 |
Why?
|
DNA Copy Number Variations | 14 | 2024 | 1516 | 0.940 |
Why?
|
Psychotic Disorders | 2 | 2019 | 147 | 0.730 |
Why?
|
Neurodevelopmental Disorders | 5 | 2023 | 413 | 0.700 |
Why?
|
Genetic Markers | 2 | 2019 | 974 | 0.660 |
Why?
|
Pedigree | 14 | 2023 | 1890 | 0.640 |
Why?
|
Calcium-Binding Proteins | 3 | 2015 | 545 | 0.580 |
Why?
|
Intercellular Signaling Peptides and Proteins | 3 | 2015 | 650 | 0.550 |
Why?
|
Pulmonary Valve Stenosis | 1 | 2015 | 44 | 0.530 |
Why?
|
Chromosome Disorders | 1 | 2018 | 417 | 0.530 |
Why?
|
Intellectual Disability | 5 | 2023 | 1032 | 0.530 |
Why?
|
Mosaicism | 4 | 2020 | 272 | 0.520 |
Why?
|
Bipolar Disorder | 1 | 2018 | 376 | 0.490 |
Why?
|
Biliary Atresia | 4 | 2020 | 191 | 0.490 |
Why?
|
Tetralogy of Fallot | 1 | 2015 | 149 | 0.480 |
Why?
|
Exome | 6 | 2020 | 1239 | 0.480 |
Why?
|
Jagged-1 Protein | 4 | 2019 | 101 | 0.470 |
Why?
|
Genetic Predisposition to Disease | 10 | 2020 | 5539 | 0.460 |
Why?
|
Adenosine Triphosphatases | 1 | 2015 | 435 | 0.430 |
Why?
|
Membrane Proteins | 4 | 2020 | 2819 | 0.420 |
Why?
|
Phenotype | 10 | 2024 | 6295 | 0.400 |
Why?
|
Arthrogryposis | 2 | 2022 | 34 | 0.390 |
Why?
|
Comparative Genomic Hybridization | 7 | 2024 | 691 | 0.390 |
Why?
|
Gene Duplication | 3 | 2021 | 421 | 0.370 |
Why?
|
Gene Rearrangement | 4 | 2022 | 783 | 0.360 |
Why?
|
Mutation, Missense | 3 | 2020 | 1152 | 0.360 |
Why?
|
Heterotaxy Syndrome | 2 | 2024 | 63 | 0.360 |
Why?
|
Heterozygote | 4 | 2020 | 1020 | 0.350 |
Why?
|
Urogenital Abnormalities | 2 | 2023 | 174 | 0.350 |
Why?
|
Mutation | 13 | 2022 | 15179 | 0.350 |
Why?
|
Chromosome Duplication | 2 | 2021 | 157 | 0.340 |
Why?
|
Microcephaly | 2 | 2023 | 325 | 0.320 |
Why?
|
alpha7 Nicotinic Acetylcholine Receptor | 2 | 2018 | 57 | 0.310 |
Why?
|
Receptor, Notch2 | 2 | 2019 | 25 | 0.310 |
Why?
|
Serrate-Jagged Proteins | 3 | 2015 | 85 | 0.300 |
Why?
|
Abnormalities, Multiple | 3 | 2022 | 998 | 0.300 |
Why?
|
Genomics | 6 | 2022 | 2738 | 0.270 |
Why?
|
Genetic Association Studies | 5 | 2020 | 1084 | 0.250 |
Why?
|
46, XX Disorders of Sex Development | 1 | 2023 | 24 | 0.220 |
Why?
|
Genes, Dominant | 2 | 2020 | 331 | 0.220 |
Why?
|
Whole Genome Sequencing | 3 | 2020 | 338 | 0.220 |
Why?
|
Transposition of Great Vessels | 1 | 2024 | 124 | 0.220 |
Why?
|
Myokymia | 1 | 2022 | 9 | 0.220 |
Why?
|
Rare Diseases | 2 | 2024 | 351 | 0.220 |
Why?
|
Polydactyly | 1 | 2022 | 18 | 0.220 |
Why?
|
Contracture | 1 | 2022 | 32 | 0.220 |
Why?
|
Apyrase | 1 | 2022 | 44 | 0.210 |
Why?
|
Spastic Paraplegia, Hereditary | 1 | 2022 | 30 | 0.210 |
Why?
|
Genomic Instability | 2 | 2022 | 519 | 0.210 |
Why?
|
Homologous Recombination | 2 | 2020 | 185 | 0.210 |
Why?
|
Megalencephaly | 1 | 2022 | 56 | 0.210 |
Why?
|
Kidney Diseases, Cystic | 1 | 2022 | 61 | 0.210 |
Why?
|
Polymorphism, Single Nucleotide | 6 | 2020 | 4549 | 0.210 |
Why?
|
Musculoskeletal Abnormalities | 1 | 2022 | 82 | 0.200 |
Why?
|
Eye Abnormalities | 1 | 2022 | 118 | 0.200 |
Why?
|
Gene Deletion | 2 | 2017 | 1442 | 0.200 |
Why?
|
Alu Elements | 1 | 2021 | 88 | 0.190 |
Why?
|
Cation Transport Proteins | 1 | 2022 | 199 | 0.190 |
Why?
|
Dishevelled Proteins | 1 | 2020 | 59 | 0.190 |
Why?
|
Microtubule-Associated Proteins | 2 | 2023 | 534 | 0.190 |
Why?
|
Epilepsy, Generalized | 1 | 2021 | 71 | 0.190 |
Why?
|
Receptor Tyrosine Kinase-like Orphan Receptors | 1 | 2020 | 53 | 0.190 |
Why?
|
Symporters | 1 | 2021 | 98 | 0.190 |
Why?
|
ATPases Associated with Diverse Cellular Activities | 1 | 2020 | 85 | 0.180 |
Why?
|
Myelin Proteolipid Protein | 1 | 2019 | 25 | 0.180 |
Why?
|
Lissencephaly | 1 | 2019 | 10 | 0.180 |
Why?
|
Karyotyping | 2 | 2020 | 1022 | 0.180 |
Why?
|
Nucleotidyltransferases | 1 | 2020 | 82 | 0.180 |
Why?
|
DNA End-Joining Repair | 1 | 2020 | 86 | 0.180 |
Why?
|
Chromosome Inversion | 1 | 2020 | 182 | 0.180 |
Why?
|
Genome-Wide Association Study | 3 | 2020 | 2265 | 0.180 |
Why?
|
Oxidoreductases | 1 | 2020 | 171 | 0.180 |
Why?
|
Humans | 42 | 2024 | 261506 | 0.180 |
Why?
|
Limb Deformities, Congenital | 1 | 2020 | 112 | 0.180 |
Why?
|
Dwarfism | 1 | 2020 | 109 | 0.180 |
Why?
|
White Matter | 1 | 2022 | 195 | 0.180 |
Why?
|
Glycine Dehydrogenase (Decarboxylating) | 1 | 2019 | 3 | 0.180 |
Why?
|
Wolff-Parkinson-White Syndrome | 1 | 2020 | 62 | 0.180 |
Why?
|
Homozygote | 4 | 2024 | 717 | 0.180 |
Why?
|
Affective Disorders, Psychotic | 1 | 2019 | 8 | 0.180 |
Why?
|
Glycine Agents | 1 | 2019 | 14 | 0.180 |
Why?
|
Myosin Heavy Chains | 1 | 2020 | 128 | 0.180 |
Why?
|
Real-Time Polymerase Chain Reaction | 2 | 2020 | 1217 | 0.170 |
Why?
|
Muscle, Smooth | 1 | 2020 | 236 | 0.170 |
Why?
|
Methyl-CpG-Binding Protein 2 | 1 | 2021 | 291 | 0.170 |
Why?
|
Loss of Function Mutation | 1 | 2019 | 132 | 0.170 |
Why?
|
Craniofacial Abnormalities | 1 | 2020 | 239 | 0.170 |
Why?
|
Heart Defects, Congenital | 2 | 2024 | 1697 | 0.170 |
Why?
|
RNA Helicases | 1 | 2019 | 101 | 0.170 |
Why?
|
Multifactorial Inheritance | 1 | 2019 | 148 | 0.160 |
Why?
|
HSP90 Heat-Shock Proteins | 1 | 2020 | 196 | 0.160 |
Why?
|
High-Throughput Nucleotide Sequencing | 4 | 2020 | 2291 | 0.160 |
Why?
|
Heat-Shock Proteins | 1 | 2020 | 311 | 0.160 |
Why?
|
Mitochondrial Diseases | 1 | 2020 | 137 | 0.160 |
Why?
|
Psychotropic Drugs | 1 | 2019 | 133 | 0.160 |
Why?
|
Chromosomes, Human, Pair 2 | 1 | 2018 | 172 | 0.160 |
Why?
|
Male | 24 | 2021 | 123000 | 0.150 |
Why?
|
Mitochondrial Proteins | 1 | 2020 | 369 | 0.150 |
Why?
|
DEAD-box RNA Helicases | 1 | 2019 | 255 | 0.150 |
Why?
|
Chromosomes, Human, Pair 9 | 1 | 2018 | 290 | 0.150 |
Why?
|
Glycine | 1 | 2019 | 289 | 0.150 |
Why?
|
AMP-Activated Protein Kinases | 1 | 2020 | 413 | 0.150 |
Why?
|
Risperidone | 1 | 2017 | 62 | 0.150 |
Why?
|
Female | 24 | 2023 | 141928 | 0.140 |
Why?
|
Extracellular Matrix Proteins | 1 | 2018 | 315 | 0.140 |
Why?
|
Software | 1 | 2024 | 1321 | 0.140 |
Why?
|
Infant | 10 | 2021 | 13310 | 0.140 |
Why?
|
Sequence Deletion | 2 | 2021 | 875 | 0.140 |
Why?
|
Genome, Human | 2 | 2022 | 1869 | 0.140 |
Why?
|
Receptors, N-Methyl-D-Aspartate | 1 | 2019 | 259 | 0.140 |
Why?
|
Cholesterol | 1 | 2020 | 658 | 0.140 |
Why?
|
Genetic Diseases, Inborn | 1 | 2020 | 442 | 0.140 |
Why?
|
Infant, Newborn | 8 | 2023 | 8223 | 0.140 |
Why?
|
Child | 11 | 2021 | 29154 | 0.130 |
Why?
|
Genetic Diseases, X-Linked | 1 | 2015 | 69 | 0.130 |
Why?
|
Hepatocyte Nuclear Factor 3-beta | 1 | 2015 | 40 | 0.130 |
Why?
|
Hypopituitarism | 1 | 2015 | 33 | 0.130 |
Why?
|
Twins, Monozygotic | 1 | 2015 | 129 | 0.130 |
Why?
|
Chromosome Aberrations | 2 | 2021 | 1960 | 0.130 |
Why?
|
Nerve Tissue Proteins | 1 | 2022 | 1491 | 0.130 |
Why?
|
Environment | 1 | 2015 | 190 | 0.120 |
Why?
|
Siblings | 1 | 2015 | 285 | 0.120 |
Why?
|
Polymerase Chain Reaction | 1 | 2020 | 3203 | 0.120 |
Why?
|
Calmodulin-Binding Proteins | 1 | 2013 | 86 | 0.120 |
Why?
|
Chromosomes, Human, Pair 10 | 1 | 2013 | 135 | 0.110 |
Why?
|
DNA Mutational Analysis | 2 | 2020 | 2283 | 0.110 |
Why?
|
Antipsychotic Agents | 1 | 2017 | 414 | 0.110 |
Why?
|
Lymphoproliferative Disorders | 1 | 2015 | 366 | 0.110 |
Why?
|
Mitochondria | 1 | 2020 | 1282 | 0.110 |
Why?
|
Hypoxia | 1 | 2015 | 443 | 0.110 |
Why?
|
Depressive Disorder, Major | 1 | 2018 | 441 | 0.110 |
Why?
|
In Situ Hybridization, Fluorescence | 1 | 2018 | 2232 | 0.110 |
Why?
|
Gene Knockdown Techniques | 1 | 2015 | 1077 | 0.110 |
Why?
|
Anxiety Disorders | 1 | 2018 | 666 | 0.110 |
Why?
|
DNA Repair | 1 | 2020 | 1872 | 0.110 |
Why?
|
Atrial Fibrillation | 1 | 2020 | 719 | 0.110 |
Why?
|
Placenta | 1 | 2015 | 516 | 0.100 |
Why?
|
Protein Kinases | 1 | 2015 | 874 | 0.100 |
Why?
|
Genetic Variation | 1 | 2019 | 2086 | 0.100 |
Why?
|
Inflammatory Bowel Diseases | 1 | 2015 | 363 | 0.100 |
Why?
|
Liver Diseases | 1 | 2015 | 574 | 0.090 |
Why?
|
Child, Preschool | 6 | 2021 | 16273 | 0.090 |
Why?
|
Neoplasms | 1 | 2015 | 15193 | 0.090 |
Why?
|
Cohort Studies | 5 | 2021 | 9244 | 0.080 |
Why?
|
Base Sequence | 1 | 2015 | 4917 | 0.080 |
Why?
|
Chromosomes, Human, Pair 17 | 2 | 2021 | 641 | 0.080 |
Why?
|
Kidney Failure, Chronic | 1 | 2015 | 960 | 0.080 |
Why?
|
Neoplasm Proteins | 1 | 2019 | 3230 | 0.080 |
Why?
|
Young Adult | 6 | 2021 | 21445 | 0.070 |
Why?
|
Adolescent | 6 | 2021 | 31252 | 0.060 |
Why?
|
Sequence Analysis, DNA | 3 | 2020 | 2483 | 0.060 |
Why?
|
DNA-Binding Proteins | 3 | 2022 | 4821 | 0.060 |
Why?
|
Chloride-Bicarbonate Antiporters | 1 | 2023 | 10 | 0.060 |
Why?
|
Sodium-Bicarbonate Symporters | 1 | 2023 | 11 | 0.060 |
Why?
|
Bicarbonates | 1 | 2023 | 130 | 0.060 |
Why?
|
Sodium Bicarbonate | 1 | 2023 | 59 | 0.060 |
Why?
|
Parents | 2 | 2020 | 998 | 0.060 |
Why?
|
Codon, Terminator | 1 | 2023 | 42 | 0.060 |
Why?
|
Iran | 1 | 2023 | 68 | 0.060 |
Why?
|
ADAMTS Proteins | 1 | 2022 | 15 | 0.060 |
Why?
|
Qa-SNARE Proteins | 1 | 2022 | 37 | 0.060 |
Why?
|
Reverse Genetics | 1 | 2022 | 18 | 0.050 |
Why?
|
Adult | 8 | 2021 | 77950 | 0.050 |
Why?
|
Sphingomyelin Phosphodiesterase | 1 | 2022 | 49 | 0.050 |
Why?
|
Dysarthria | 1 | 2022 | 24 | 0.050 |
Why?
|
Arteries | 1 | 2024 | 274 | 0.050 |
Why?
|
Consanguinity | 1 | 2022 | 114 | 0.050 |
Why?
|
Sodium | 1 | 2023 | 353 | 0.050 |
Why?
|
Membrane Transport Proteins | 1 | 2023 | 244 | 0.050 |
Why?
|
Nucleotides | 1 | 2022 | 164 | 0.050 |
Why?
|
Frameshift Mutation | 1 | 2023 | 220 | 0.050 |
Why?
|
Paraplegia | 1 | 2022 | 95 | 0.050 |
Why?
|
Liver | 3 | 2018 | 2961 | 0.050 |
Why?
|
Endoribonucleases | 1 | 2022 | 107 | 0.050 |
Why?
|
Turkey | 1 | 2021 | 57 | 0.050 |
Why?
|
X Chromosome Inactivation | 1 | 2021 | 73 | 0.050 |
Why?
|
Zinc | 1 | 2022 | 188 | 0.050 |
Why?
|
Alleles | 2 | 2019 | 2437 | 0.050 |
Why?
|
Phosphoprotein Phosphatases | 1 | 2022 | 214 | 0.050 |
Why?
|
Peru | 1 | 2020 | 52 | 0.050 |
Why?
|
Ataxia | 1 | 2022 | 176 | 0.050 |
Why?
|
Mental Retardation, X-Linked | 1 | 2021 | 94 | 0.050 |
Why?
|
Mammals | 1 | 2022 | 361 | 0.050 |
Why?
|
Chromosomes, Human, X | 1 | 2021 | 192 | 0.050 |
Why?
|
Animals | 5 | 2024 | 59536 | 0.050 |
Why?
|
Esophageal Motility Disorders | 1 | 2020 | 9 | 0.050 |
Why?
|
Corneal Opacity | 1 | 2020 | 23 | 0.050 |
Why?
|
Sequence Homology | 1 | 2020 | 71 | 0.050 |
Why?
|
Genes, Recessive | 1 | 2020 | 200 | 0.050 |
Why?
|
Genomic Structural Variation | 1 | 2020 | 77 | 0.050 |
Why?
|
LIM Domain Proteins | 1 | 2020 | 104 | 0.050 |
Why?
|
Chromosome Breakpoints | 1 | 2019 | 104 | 0.040 |
Why?
|
Inheritance Patterns | 1 | 2020 | 139 | 0.040 |
Why?
|
Hedgehog Proteins | 1 | 2022 | 424 | 0.040 |
Why?
|
Connectin | 1 | 2019 | 30 | 0.040 |
Why?
|
Proof of Concept Study | 1 | 2019 | 53 | 0.040 |
Why?
|
Axons | 1 | 2022 | 403 | 0.040 |
Why?
|
Ankyrins | 1 | 2020 | 104 | 0.040 |
Why?
|
Tubulin | 1 | 2019 | 169 | 0.040 |
Why?
|
Electromyography | 1 | 2020 | 226 | 0.040 |
Why?
|
Gastroparesis | 1 | 2020 | 72 | 0.040 |
Why?
|
Muscle Hypotonia | 1 | 2020 | 180 | 0.040 |
Why?
|
Gene-Environment Interaction | 1 | 2020 | 166 | 0.040 |
Why?
|
Genetic Heterogeneity | 1 | 2020 | 318 | 0.040 |
Why?
|
Intestinal Diseases | 1 | 2020 | 121 | 0.040 |
Why?
|
Autoantibodies | 1 | 2022 | 576 | 0.040 |
Why?
|
Clinical Laboratory Techniques | 1 | 2020 | 203 | 0.040 |
Why?
|
Retina | 1 | 2022 | 532 | 0.040 |
Why?
|
Mutation Rate | 1 | 2019 | 223 | 0.040 |
Why?
|
Endoscopy, Digestive System | 1 | 2020 | 202 | 0.040 |
Why?
|
Cerebellum | 1 | 2022 | 449 | 0.040 |
Why?
|
Microtubules | 1 | 2019 | 270 | 0.040 |
Why?
|
Uterus | 1 | 2023 | 678 | 0.040 |
Why?
|
Haplotypes | 1 | 2020 | 856 | 0.040 |
Why?
|
Vesicular Transport Proteins | 1 | 2019 | 135 | 0.040 |
Why?
|
Nervous System Malformations | 1 | 2019 | 133 | 0.040 |
Why?
|
Genotyping Techniques | 1 | 2018 | 166 | 0.040 |
Why?
|
Organogenesis | 1 | 2018 | 119 | 0.040 |
Why?
|
Wnt Signaling Pathway | 1 | 2020 | 430 | 0.040 |
Why?
|
Cytoskeletal Proteins | 1 | 2020 | 492 | 0.040 |
Why?
|
Random Allocation | 1 | 2019 | 703 | 0.040 |
Why?
|
Heart Atria | 1 | 2020 | 352 | 0.040 |
Why?
|
Mice | 3 | 2023 | 34495 | 0.040 |
Why?
|
Gene Frequency | 1 | 2020 | 1163 | 0.040 |
Why?
|
Adaptor Proteins, Signal Transducing | 1 | 2024 | 1439 | 0.040 |
Why?
|
Transcription Factors | 2 | 2022 | 5270 | 0.040 |
Why?
|
Ryanodine Receptor Calcium Release Channel | 1 | 2019 | 244 | 0.040 |
Why?
|
Protein Conformation | 1 | 2020 | 1258 | 0.040 |
Why?
|
Quantitative Trait Loci | 1 | 2018 | 374 | 0.040 |
Why?
|
RNA-Binding Proteins | 1 | 2022 | 984 | 0.040 |
Why?
|
Syndrome | 1 | 2020 | 1351 | 0.040 |
Why?
|
Muscle, Smooth, Vascular | 1 | 2018 | 330 | 0.040 |
Why?
|
Family | 1 | 2020 | 736 | 0.040 |
Why?
|
Intracellular Signaling Peptides and Proteins | 1 | 2022 | 1265 | 0.040 |
Why?
|
NIMA-Related Kinases | 1 | 2015 | 11 | 0.030 |
Why?
|
Brain Diseases | 1 | 2020 | 403 | 0.030 |
Why?
|
Genotype | 2 | 2015 | 4109 | 0.030 |
Why?
|
Genetic Loci | 1 | 2018 | 481 | 0.030 |
Why?
|
Translocation, Genetic | 1 | 2021 | 1245 | 0.030 |
Why?
|
Drug Synergism | 1 | 2019 | 1313 | 0.030 |
Why?
|
Gestational Age | 1 | 2019 | 1069 | 0.030 |
Why?
|
Radiography | 1 | 2020 | 1904 | 0.030 |
Why?
|
Proteomics | 1 | 2022 | 1380 | 0.030 |
Why?
|
Facies | 1 | 2015 | 149 | 0.030 |
Why?
|
Gene Expression Regulation | 2 | 2018 | 4053 | 0.030 |
Why?
|
Homeodomain Proteins | 1 | 2020 | 1143 | 0.030 |
Why?
|
DNA | 1 | 2022 | 2693 | 0.030 |
Why?
|
Aminopeptidases | 1 | 2013 | 34 | 0.030 |
Why?
|
Cardiomyopathies | 1 | 2020 | 610 | 0.030 |
Why?
|
Seizures | 1 | 2020 | 989 | 0.030 |
Why?
|
Mice, Knockout | 1 | 2023 | 5710 | 0.030 |
Why?
|
Prevalence | 1 | 2021 | 3260 | 0.030 |
Why?
|
Amino Acid Sequence | 1 | 2020 | 4233 | 0.030 |
Why?
|
Age of Onset | 1 | 2015 | 827 | 0.030 |
Why?
|
Drug Therapy, Combination | 1 | 2019 | 2315 | 0.030 |
Why?
|
Double-Blind Method | 1 | 2019 | 2588 | 0.030 |
Why?
|
Linkage Disequilibrium | 1 | 2013 | 460 | 0.030 |
Why?
|
Pancreas | 1 | 2015 | 718 | 0.030 |
Why?
|
Cell Movement | 1 | 2019 | 2466 | 0.030 |
Why?
|
Carrier Proteins | 1 | 2020 | 2022 | 0.030 |
Why?
|
Gene Expression | 1 | 2020 | 3570 | 0.030 |
Why?
|
Logistic Models | 1 | 2018 | 3441 | 0.020 |
Why?
|
Case-Control Studies | 1 | 2020 | 6100 | 0.020 |
Why?
|
Chromosome Mapping | 1 | 2013 | 1471 | 0.020 |
Why?
|
Middle Aged | 3 | 2021 | 86204 | 0.020 |
Why?
|
Rats | 1 | 2018 | 6086 | 0.020 |
Why?
|
Neurons | 1 | 2019 | 2287 | 0.020 |
Why?
|
Oligonucleotide Array Sequence Analysis | 1 | 2013 | 2508 | 0.020 |
Why?
|
Kidney | 1 | 2015 | 2146 | 0.020 |
Why?
|
Brain | 1 | 2019 | 4113 | 0.020 |
Why?
|
Biopsy | 1 | 2013 | 3443 | 0.020 |
Why?
|
Pregnancy | 1 | 2015 | 7573 | 0.010 |
Why?
|
Prospective Studies | 1 | 2017 | 12873 | 0.010 |
Why?
|
United States | 1 | 2013 | 15433 | 0.010 |
Why?
|
Treatment Outcome | 1 | 2017 | 32848 | 0.010 |
Why?
|