Name |
Number of Publications
|
Most Recent Publication
|
Publications by All Authors
|
Concept Score
|
Why?
|
---|
Alagille Syndrome | 4 | 2019 | 47 | 1.260 |
Why?
|
DNA Copy Number Variations | 15 | 2024 | 943 | 1.040 |
Why?
|
Mosaicism | 6 | 2024 | 240 | 0.900 |
Why?
|
Haplotypes | 2 | 2024 | 510 | 0.870 |
Why?
|
Polymerase Chain Reaction | 2 | 2024 | 1591 | 0.840 |
Why?
|
Polymorphism, Single Nucleotide | 7 | 2024 | 2576 | 0.740 |
Why?
|
Psychotic Disorders | 2 | 2019 | 139 | 0.700 |
Why?
|
Genetic Markers | 2 | 2019 | 597 | 0.680 |
Why?
|
Neurodevelopmental Disorders | 5 | 2023 | 458 | 0.660 |
Why?
|
Pedigree | 14 | 2023 | 1575 | 0.630 |
Why?
|
Gene Duplication | 5 | 2024 | 358 | 0.610 |
Why?
|
Calcium-Binding Proteins | 3 | 2015 | 324 | 0.600 |
Why?
|
Intercellular Signaling Peptides and Proteins | 3 | 2015 | 281 | 0.600 |
Why?
|
Comparative Genomic Hybridization | 8 | 2024 | 576 | 0.590 |
Why?
|
Phenotype | 11 | 2024 | 4207 | 0.550 |
Why?
|
Genetic Predisposition to Disease | 10 | 2020 | 3066 | 0.550 |
Why?
|
Chromosome Disorders | 1 | 2018 | 311 | 0.520 |
Why?
|
Intellectual Disability | 5 | 2023 | 1042 | 0.510 |
Why?
|
Mutation | 13 | 2022 | 5749 | 0.510 |
Why?
|
Pulmonary Valve Stenosis | 1 | 2015 | 41 | 0.510 |
Why?
|
Membrane Proteins | 4 | 2020 | 1524 | 0.490 |
Why?
|
Exome | 6 | 2020 | 1037 | 0.480 |
Why?
|
Bipolar Disorder | 1 | 2018 | 347 | 0.470 |
Why?
|
Adenosine Triphosphatases | 1 | 2015 | 210 | 0.460 |
Why?
|
Biliary Atresia | 4 | 2020 | 201 | 0.460 |
Why?
|
Tetralogy of Fallot | 1 | 2015 | 160 | 0.450 |
Why?
|
Jagged-1 Protein | 4 | 2019 | 52 | 0.450 |
Why?
|
Genome, Human | 4 | 2024 | 1251 | 0.450 |
Why?
|
Chromosome Inversion | 2 | 2024 | 76 | 0.410 |
Why?
|
High-Throughput Nucleotide Sequencing | 6 | 2024 | 864 | 0.400 |
Why?
|
Gene Rearrangement | 4 | 2022 | 316 | 0.400 |
Why?
|
Arthrogryposis | 2 | 2022 | 33 | 0.370 |
Why?
|
Mutation, Missense | 3 | 2020 | 834 | 0.370 |
Why?
|
Methyl-CpG-Binding Protein 2 | 2 | 2024 | 295 | 0.360 |
Why?
|
Heterozygote | 4 | 2020 | 679 | 0.360 |
Why?
|
Heterotaxy Syndrome | 2 | 2024 | 63 | 0.340 |
Why?
|
Urogenital Abnormalities | 2 | 2023 | 167 | 0.330 |
Why?
|
Chromosome Duplication | 2 | 2021 | 147 | 0.330 |
Why?
|
Genomic Structural Variation | 3 | 2024 | 78 | 0.320 |
Why?
|
Genomics | 6 | 2022 | 1473 | 0.320 |
Why?
|
Humans | 47 | 2024 | 121743 | 0.310 |
Why?
|
Microcephaly | 2 | 2023 | 324 | 0.310 |
Why?
|
alpha7 Nicotinic Acetylcholine Receptor | 2 | 2018 | 57 | 0.300 |
Why?
|
Receptor, Notch2 | 2 | 2019 | 8 | 0.300 |
Why?
|
Abnormalities, Multiple | 3 | 2022 | 974 | 0.290 |
Why?
|
Serrate-Jagged Proteins | 3 | 2015 | 38 | 0.290 |
Why?
|
Whole Genome Sequencing | 4 | 2024 | 280 | 0.270 |
Why?
|
Mental Retardation, X-Linked | 2 | 2024 | 102 | 0.260 |
Why?
|
Genetic Association Studies | 5 | 2020 | 756 | 0.260 |
Why?
|
Rare Diseases | 2 | 2024 | 185 | 0.230 |
Why?
|
Genomic Instability | 2 | 2022 | 230 | 0.220 |
Why?
|
Gene Deletion | 2 | 2017 | 799 | 0.220 |
Why?
|
Genes, Dominant | 2 | 2020 | 246 | 0.220 |
Why?
|
46, XX Disorders of Sex Development | 1 | 2023 | 22 | 0.210 |
Why?
|
Homologous Recombination | 2 | 2020 | 93 | 0.210 |
Why?
|
Male | 25 | 2024 | 59138 | 0.210 |
Why?
|
Fluorescent Dyes | 1 | 2024 | 261 | 0.210 |
Why?
|
Myokymia | 1 | 2022 | 8 | 0.210 |
Why?
|
Transposition of Great Vessels | 1 | 2024 | 132 | 0.210 |
Why?
|
Contracture | 1 | 2022 | 24 | 0.210 |
Why?
|
Polydactyly | 1 | 2022 | 17 | 0.200 |
Why?
|
Software | 2 | 2024 | 671 | 0.200 |
Why?
|
Apyrase | 1 | 2022 | 18 | 0.200 |
Why?
|
Female | 25 | 2024 | 64492 | 0.200 |
Why?
|
Spastic Paraplegia, Hereditary | 1 | 2022 | 29 | 0.200 |
Why?
|
Kidney Diseases, Cystic | 1 | 2022 | 40 | 0.200 |
Why?
|
Microtubule-Associated Proteins | 2 | 2023 | 244 | 0.200 |
Why?
|
Megalencephaly | 1 | 2022 | 58 | 0.200 |
Why?
|
Musculoskeletal Abnormalities | 1 | 2022 | 73 | 0.200 |
Why?
|
Cation Transport Proteins | 1 | 2022 | 99 | 0.190 |
Why?
|
Eye Abnormalities | 1 | 2022 | 108 | 0.190 |
Why?
|
Karyotyping | 2 | 2020 | 337 | 0.190 |
Why?
|
Genome-Wide Association Study | 3 | 2020 | 1631 | 0.190 |
Why?
|
Neoplasms | 1 | 2015 | 2748 | 0.190 |
Why?
|
Alu Elements | 1 | 2021 | 64 | 0.180 |
Why?
|
Real-Time Polymerase Chain Reaction | 2 | 2020 | 512 | 0.180 |
Why?
|
Dishevelled Proteins | 1 | 2020 | 43 | 0.180 |
Why?
|
Symporters | 1 | 2021 | 66 | 0.180 |
Why?
|
DNA End-Joining Repair | 1 | 2020 | 35 | 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 | 533 | 0.170 |
Why?
|
Myelin Proteolipid Protein | 1 | 2019 | 27 | 0.170 |
Why?
|
Lissencephaly | 1 | 2019 | 10 | 0.170 |
Why?
|
Myosin Heavy Chains | 1 | 2020 | 77 | 0.170 |
Why?
|
White Matter | 1 | 2022 | 181 | 0.170 |
Why?
|
Limb Deformities, Congenital | 1 | 2020 | 104 | 0.170 |
Why?
|
Dwarfism | 1 | 2020 | 102 | 0.170 |
Why?
|
Glycine Dehydrogenase (Decarboxylating) | 1 | 2019 | 3 | 0.170 |
Why?
|
Muscle, Smooth | 1 | 2020 | 138 | 0.170 |
Why?
|
Glycine Agents | 1 | 2019 | 10 | 0.170 |
Why?
|
Affective Disorders, Psychotic | 1 | 2019 | 7 | 0.170 |
Why?
|
Wolff-Parkinson-White Syndrome | 1 | 2020 | 73 | 0.170 |
Why?
|
Chromosome Aberrations | 2 | 2021 | 617 | 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 | 1801 | 0.160 |
Why?
|
Craniofacial Abnormalities | 1 | 2020 | 243 | 0.160 |
Why?
|
Multifactorial Inheritance | 1 | 2019 | 134 | 0.160 |
Why?
|
AMP-Activated Protein Kinases | 1 | 2020 | 166 | 0.160 |
Why?
|
Loss of Function Mutation | 1 | 2019 | 141 | 0.160 |
Why?
|
DEAD-box RNA Helicases | 1 | 2019 | 116 | 0.160 |
Why?
|
Mitochondrial Proteins | 1 | 2020 | 240 | 0.150 |
Why?
|
Chromosomes, Human, Pair 2 | 1 | 2018 | 111 | 0.150 |
Why?
|
Glycine | 1 | 2019 | 164 | 0.150 |
Why?
|
Mitochondrial Diseases | 1 | 2020 | 133 | 0.150 |
Why?
|
Receptors, N-Methyl-D-Aspartate | 1 | 2019 | 145 | 0.150 |
Why?
|
Psychotropic Drugs | 1 | 2019 | 125 | 0.150 |
Why?
|
Extracellular Matrix Proteins | 1 | 2018 | 149 | 0.150 |
Why?
|
Child | 12 | 2024 | 24035 | 0.150 |
Why?
|
Chromosomes, Human, Pair 9 | 1 | 2018 | 106 | 0.150 |
Why?
|
Sequence Deletion | 2 | 2021 | 526 | 0.150 |
Why?
|
DNA Mutational Analysis | 2 | 2020 | 791 | 0.140 |
Why?
|
Cholesterol | 1 | 2020 | 517 | 0.140 |
Why?
|
DNA Repair | 1 | 2020 | 584 | 0.140 |
Why?
|
Risperidone | 1 | 2017 | 56 | 0.140 |
Why?
|
Infant | 10 | 2021 | 12289 | 0.140 |
Why?
|
In Situ Hybridization, Fluorescence | 1 | 2018 | 758 | 0.130 |
Why?
|
Genetic Diseases, Inborn | 1 | 2020 | 440 | 0.130 |
Why?
|
Nerve Tissue Proteins | 1 | 2022 | 1112 | 0.130 |
Why?
|
Infant, Newborn | 8 | 2023 | 8088 | 0.130 |
Why?
|
Genetic Diseases, X-Linked | 1 | 2015 | 65 | 0.130 |
Why?
|
Hepatocyte Nuclear Factor 3-beta | 1 | 2015 | 28 | 0.130 |
Why?
|
Hypopituitarism | 1 | 2015 | 15 | 0.120 |
Why?
|
Twins, Monozygotic | 1 | 2015 | 109 | 0.120 |
Why?
|
Mitochondria | 1 | 2020 | 666 | 0.120 |
Why?
|
Neoplasm Proteins | 1 | 2019 | 670 | 0.120 |
Why?
|
Environment | 1 | 2015 | 136 | 0.120 |
Why?
|
Siblings | 1 | 2015 | 193 | 0.120 |
Why?
|
Gene Knockdown Techniques | 1 | 2015 | 351 | 0.120 |
Why?
|
Lymphoproliferative Disorders | 1 | 2015 | 223 | 0.110 |
Why?
|
Protein Kinases | 1 | 2015 | 329 | 0.110 |
Why?
|
Hypoxia | 1 | 2015 | 246 | 0.110 |
Why?
|
Antipsychotic Agents | 1 | 2017 | 367 | 0.110 |
Why?
|
Child, Preschool | 7 | 2024 | 13771 | 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 | 383 | 0.110 |
Why?
|
Genetic Variation | 1 | 2019 | 1475 | 0.110 |
Why?
|
Atrial Fibrillation | 1 | 2020 | 622 | 0.110 |
Why?
|
Sequence Analysis, DNA | 4 | 2024 | 1758 | 0.100 |
Why?
|
Cohort Studies | 5 | 2021 | 4635 | 0.100 |
Why?
|
Genetic Heterogeneity | 2 | 2024 | 123 | 0.100 |
Why?
|
Anxiety Disorders | 1 | 2018 | 675 | 0.100 |
Why?
|
Young Adult | 6 | 2021 | 8712 | 0.100 |
Why?
|
Placenta | 1 | 2015 | 480 | 0.100 |
Why?
|
Liver Diseases | 1 | 2015 | 382 | 0.100 |
Why?
|
Alleles | 3 | 2024 | 1594 | 0.100 |
Why?
|
Inflammatory Bowel Diseases | 1 | 2015 | 306 | 0.100 |
Why?
|
Base Sequence | 1 | 2015 | 3114 | 0.090 |
Why?
|
DNA-Binding Proteins | 3 | 2022 | 2036 | 0.080 |
Why?
|
Adult | 8 | 2021 | 28623 | 0.080 |
Why?
|
Chromosomes, Human, Pair 17 | 2 | 2021 | 370 | 0.080 |
Why?
|
Kidney Failure, Chronic | 1 | 2015 | 856 | 0.080 |
Why?
|
Adolescent | 6 | 2021 | 18879 | 0.070 |
Why?
|
Animals | 6 | 2024 | 33670 | 0.070 |
Why?
|
Pan troglodytes | 1 | 2024 | 70 | 0.060 |
Why?
|
Liver | 3 | 2018 | 1850 | 0.060 |
Why?
|
Chloride-Bicarbonate Antiporters | 1 | 2023 | 8 | 0.060 |
Why?
|
Sodium-Bicarbonate Symporters | 1 | 2023 | 14 | 0.060 |
Why?
|
Bicarbonates | 1 | 2023 | 98 | 0.060 |
Why?
|
Sodium Bicarbonate | 1 | 2023 | 52 | 0.050 |
Why?
|
Parents | 2 | 2020 | 1014 | 0.050 |
Why?
|
Codon, Terminator | 1 | 2023 | 26 | 0.050 |
Why?
|
Iran | 1 | 2023 | 63 | 0.050 |
Why?
|
Arteries | 1 | 2024 | 211 | 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 | 43 | 0.050 |
Why?
|
Membrane Transport Proteins | 1 | 2023 | 175 | 0.050 |
Why?
|
Sodium | 1 | 2023 | 289 | 0.050 |
Why?
|
Dysarthria | 1 | 2022 | 21 | 0.050 |
Why?
|
Nucleotides | 1 | 2022 | 92 | 0.050 |
Why?
|
Consanguinity | 1 | 2022 | 106 | 0.050 |
Why?
|
Frameshift Mutation | 1 | 2023 | 175 | 0.050 |
Why?
|
Paraplegia | 1 | 2022 | 86 | 0.050 |
Why?
|
Endoribonucleases | 1 | 2022 | 84 | 0.050 |
Why?
|
Phosphoprotein Phosphatases | 1 | 2022 | 115 | 0.050 |
Why?
|
Mice | 3 | 2023 | 17494 | 0.050 |
Why?
|
Turkey | 1 | 2021 | 57 | 0.050 |
Why?
|
X Chromosome Inactivation | 1 | 2021 | 63 | 0.050 |
Why?
|
Zinc | 1 | 2022 | 128 | 0.050 |
Why?
|
Hedgehog Proteins | 1 | 2022 | 190 | 0.050 |
Why?
|
Transcription Factors | 2 | 2022 | 2586 | 0.050 |
Why?
|
Mammals | 1 | 2022 | 263 | 0.050 |
Why?
|
Peru | 1 | 2020 | 45 | 0.050 |
Why?
|
Chromosomes, Human, X | 1 | 2021 | 156 | 0.050 |
Why?
|
Adaptor Proteins, Signal Transducing | 1 | 2024 | 523 | 0.050 |
Why?
|
Ataxia | 1 | 2022 | 168 | 0.050 |
Why?
|
Esophageal Motility Disorders | 1 | 2020 | 12 | 0.040 |
Why?
|
LIM Domain Proteins | 1 | 2020 | 59 | 0.040 |
Why?
|
Corneal Opacity | 1 | 2020 | 23 | 0.040 |
Why?
|
Sequence Homology | 1 | 2020 | 63 | 0.040 |
Why?
|
Genes, Recessive | 1 | 2020 | 171 | 0.040 |
Why?
|
Chromosome Breakpoints | 1 | 2019 | 80 | 0.040 |
Why?
|
Inheritance Patterns | 1 | 2020 | 124 | 0.040 |
Why?
|
Translocation, Genetic | 1 | 2021 | 344 | 0.040 |
Why?
|
Tubulin | 1 | 2019 | 99 | 0.040 |
Why?
|
Connectin | 1 | 2019 | 27 | 0.040 |
Why?
|
Autoantibodies | 1 | 2022 | 421 | 0.040 |
Why?
|
Electromyography | 1 | 2020 | 161 | 0.040 |
Why?
|
Intracellular Signaling Peptides and Proteins | 1 | 2022 | 549 | 0.040 |
Why?
|
Mutation Rate | 1 | 2019 | 65 | 0.040 |
Why?
|
Proof of Concept Study | 1 | 2019 | 29 | 0.040 |
Why?
|
Axons | 1 | 2022 | 382 | 0.040 |
Why?
|
Wnt Signaling Pathway | 1 | 2020 | 200 | 0.040 |
Why?
|
Gene-Environment Interaction | 1 | 2020 | 118 | 0.040 |
Why?
|
Clinical Laboratory Techniques | 1 | 2020 | 142 | 0.040 |
Why?
|
Ankyrins | 1 | 2020 | 98 | 0.040 |
Why?
|
Intestinal Diseases | 1 | 2020 | 82 | 0.040 |
Why?
|
Gastroparesis | 1 | 2020 | 66 | 0.040 |
Why?
|
Muscle Hypotonia | 1 | 2020 | 186 | 0.040 |
Why?
|
Drug Synergism | 1 | 2019 | 234 | 0.040 |
Why?
|
Microtubules | 1 | 2019 | 193 | 0.040 |
Why?
|
Retina | 1 | 2022 | 457 | 0.040 |
Why?
|
Proteomics | 1 | 2022 | 474 | 0.040 |
Why?
|
Gene Frequency | 1 | 2020 | 707 | 0.040 |
Why?
|
Endoscopy, Digestive System | 1 | 2020 | 154 | 0.040 |
Why?
|
Cytoskeletal Proteins | 1 | 2020 | 270 | 0.040 |
Why?
|
Cerebellum | 1 | 2022 | 410 | 0.040 |
Why?
|
Uterus | 1 | 2023 | 591 | 0.040 |
Why?
|
RNA-Binding Proteins | 1 | 2022 | 567 | 0.040 |
Why?
|
Genotyping Techniques | 1 | 2018 | 101 | 0.040 |
Why?
|
Random Allocation | 1 | 2019 | 416 | 0.040 |
Why?
|
Vesicular Transport Proteins | 1 | 2019 | 117 | 0.040 |
Why?
|
Genotype | 2 | 2015 | 2533 | 0.040 |
Why?
|
Organogenesis | 1 | 2018 | 76 | 0.040 |
Why?
|
Nervous System Malformations | 1 | 2019 | 126 | 0.040 |
Why?
|
Protein Conformation | 1 | 2020 | 833 | 0.040 |
Why?
|
Heart Atria | 1 | 2020 | 308 | 0.040 |
Why?
|
Radiography | 1 | 2020 | 797 | 0.040 |
Why?
|
Middle Aged | 3 | 2021 | 25388 | 0.040 |
Why?
|
Family | 1 | 2020 | 569 | 0.040 |
Why?
|
Gene Expression Regulation | 2 | 2018 | 2536 | 0.040 |
Why?
|
Quantitative Trait Loci | 1 | 2018 | 266 | 0.040 |
Why?
|
Ryanodine Receptor Calcium Release Channel | 1 | 2019 | 232 | 0.040 |
Why?
|
Syndrome | 1 | 2020 | 1117 | 0.040 |
Why?
|
DNA | 1 | 2022 | 1607 | 0.040 |
Why?
|
Homeodomain Proteins | 1 | 2020 | 538 | 0.040 |
Why?
|
Muscle, Smooth, Vascular | 1 | 2018 | 238 | 0.040 |
Why?
|
Brain Diseases | 1 | 2020 | 296 | 0.030 |
Why?
|
Genetic Loci | 1 | 2018 | 334 | 0.030 |
Why?
|
NIMA-Related Kinases | 1 | 2015 | 13 | 0.030 |
Why?
|
Cell Movement | 1 | 2019 | 846 | 0.030 |
Why?
|
Mice, Knockout | 1 | 2023 | 3762 | 0.030 |
Why?
|
Drug Therapy, Combination | 1 | 2019 | 1145 | 0.030 |
Why?
|
Amino Acid Sequence | 1 | 2020 | 2677 | 0.030 |
Why?
|
Gestational Age | 1 | 2019 | 1112 | 0.030 |
Why?
|
Double-Blind Method | 1 | 2019 | 1564 | 0.030 |
Why?
|
Cardiomyopathies | 1 | 2020 | 476 | 0.030 |
Why?
|
Gene Expression | 1 | 2020 | 1579 | 0.030 |
Why?
|
Prevalence | 1 | 2021 | 2370 | 0.030 |
Why?
|
Pancreas | 1 | 2015 | 213 | 0.030 |
Why?
|
Facies | 1 | 2015 | 155 | 0.030 |
Why?
|
Carrier Proteins | 1 | 2020 | 1022 | 0.030 |
Why?
|
Seizures | 1 | 2020 | 874 | 0.030 |
Why?
|
Age of Onset | 1 | 2015 | 574 | 0.030 |
Why?
|
Aminopeptidases | 1 | 2013 | 19 | 0.030 |
Why?
|
Logistic Models | 1 | 2018 | 1756 | 0.030 |
Why?
|
Case-Control Studies | 1 | 2020 | 3221 | 0.030 |
Why?
|
Linkage Disequilibrium | 1 | 2013 | 305 | 0.030 |
Why?
|
Rats | 1 | 2018 | 3653 | 0.020 |
Why?
|
Chromosome Mapping | 1 | 2013 | 1068 | 0.020 |
Why?
|
Oligonucleotide Array Sequence Analysis | 1 | 2013 | 999 | 0.020 |
Why?
|
Biopsy | 1 | 2013 | 1242 | 0.020 |
Why?
|
Neurons | 1 | 2019 | 1916 | 0.020 |
Why?
|
Kidney | 1 | 2015 | 1323 | 0.020 |
Why?
|
Brain | 1 | 2019 | 2944 | 0.020 |
Why?
|
Prospective Studies | 1 | 2017 | 5906 | 0.020 |
Why?
|
Pregnancy | 1 | 2015 | 7071 | 0.010 |
Why?
|
Treatment Outcome | 1 | 2017 | 11685 | 0.010 |
Why?
|
United States | 1 | 2013 | 10415 | 0.010 |
Why?
|