| Name |
Number of Publications
|
Most Recent Publication
|
Publications by All Authors
|
Concept Score
|
Why?
|
|---|
| Huntington Disease | 18 | 2024 | 22 | 4.930 |
Why?
|
| Chorea | 11 | 2024 | 13 | 4.310 |
Why?
|
| Dementia | 11 | 2024 | 22 | 4.270 |
Why?
|
| Heredodegenerative Disorders, Nervous System | 11 | 2024 | 12 | 4.040 |
Why?
|
| Cognition Disorders | 11 | 2024 | 36 | 3.430 |
Why?
|
| Fanconi Anemia | 7 | 2020 | 14 | 3.070 |
Why?
|
| Mutation | 17 | 2024 | 306 | 2.930 |
Why?
|
| Fanconi Anemia Complementation Group G Protein | 5 | 2020 | 11 | 1.940 |
Why?
|
| Humans | 61 | 2024 | 14537 | 1.500 |
Why?
|
| Genetic Testing | 11 | 2024 | 34 | 1.450 |
Why?
|
| South Africa | 33 | 2024 | 7596 | 1.090 |
Why?
|
| Male | 29 | 2024 | 6754 | 1.050 |
Why?
|
| Female | 34 | 2024 | 9103 | 1.020 |
Why?
|
| Cardiomyopathy, Dilated | 3 | 2023 | 35 | 0.990 |
Why?
|
| Founder Effect | 6 | 2020 | 16 | 0.930 |
Why?
|
| Neurofilament Proteins | 1 | 2024 | 1 | 0.900 |
Why?
|
| Middle Aged | 17 | 2024 | 3601 | 0.850 |
Why?
|
| Genetic Counseling | 5 | 2016 | 14 | 0.830 |
Why?
|
| Adult | 22 | 2024 | 5913 | 0.830 |
Why?
|
| Biomarkers | 1 | 2024 | 327 | 0.810 |
Why?
|
| Tumor Suppressor Protein p53 | 2 | 2023 | 7 | 0.790 |
Why?
|
| Neuropsychological Tests | 2 | 2020 | 55 | 0.780 |
Why?
|
| Phenotype | 12 | 2024 | 158 | 0.780 |
Why?
|
| Nerve Tissue Proteins | 6 | 2018 | 18 | 0.750 |
Why?
|
| Family Health | 2 | 2019 | 16 | 0.730 |
Why?
|
| Prenatal Diagnosis | 4 | 2013 | 22 | 0.690 |
Why?
|
| Mass Screening | 2 | 2020 | 245 | 0.680 |
Why?
|
| Neoplasms | 2 | 2023 | 147 | 0.680 |
Why?
|
| Thyroid Hormones | 1 | 2020 | 2 | 0.660 |
Why?
|
| Insulin-Like Growth Factor Binding Protein 3 | 1 | 2020 | 2 | 0.660 |
Why?
|
| Insulin-Like Growth Factor I | 1 | 2020 | 5 | 0.660 |
Why?
|
| Insulin | 1 | 2020 | 73 | 0.640 |
Why?
|
| Germ-Line Mutation | 2 | 2023 | 5 | 0.640 |
Why?
|
| Psychomotor Performance | 1 | 2019 | 12 | 0.630 |
Why?
|
| Genetic Predisposition to Disease | 3 | 2017 | 176 | 0.620 |
Why?
|
| Fertilization in Vitro | 1 | 2019 | 1 | 0.620 |
Why?
|
| Preimplantation Diagnosis | 1 | 2019 | 1 | 0.620 |
Why?
|
| Spinocerebellar Ataxias | 2 | 2018 | 4 | 0.620 |
Why?
|
| Disease Progression | 1 | 2019 | 154 | 0.610 |
Why?
|
| Echocardiography | 1 | 2019 | 100 | 0.610 |
Why?
|
| Li-Fraumeni Syndrome | 1 | 2018 | 1 | 0.590 |
Why?
|
| Pregnancy Outcome | 1 | 2019 | 117 | 0.590 |
Why?
|
| Genetic Diseases, Inborn | 1 | 2018 | 4 | 0.580 |
Why?
|
| Haplotypes | 8 | 2023 | 125 | 0.580 |
Why?
|
| Genetic Loci | 1 | 2018 | 11 | 0.570 |
Why?
|
| Sequence Deletion | 3 | 2014 | 16 | 0.570 |
Why?
|
| Acanthocytes | 1 | 2017 | 2 | 0.560 |
Why?
|
| Aged | 8 | 2024 | 1740 | 0.550 |
Why?
|
| BRCA2 Protein | 1 | 2017 | 1 | 0.540 |
Why?
|
| Hemophilia A | 3 | 2015 | 106 | 0.520 |
Why?
|
| Genetics, Medical | 2 | 2013 | 21 | 0.520 |
Why?
|
| Multiplex Polymerase Chain Reaction | 2 | 2013 | 23 | 0.510 |
Why?
|
| Warfarin | 2 | 2020 | 19 | 0.510 |
Why?
|
| Retrospective Studies | 8 | 2023 | 799 | 0.480 |
Why?
|
| Membrane Proteins | 2 | 2015 | 36 | 0.470 |
Why?
|
| Child, Preschool | 9 | 2020 | 1748 | 0.470 |
Why?
|
| Child | 9 | 2024 | 2242 | 0.450 |
Why?
|
| Blood Coagulation Factor Inhibitors | 1 | 2014 | 4 | 0.440 |
Why?
|
| Chromosomes, Human, Pair 5 | 2 | 2007 | 2 | 0.430 |
Why?
|
| Muscular Atrophy, Spinal | 2 | 2007 | 2 | 0.430 |
Why?
|
| Fragile X Syndrome | 1 | 2013 | 1 | 0.420 |
Why?
|
| Primary Ovarian Insufficiency | 1 | 2013 | 1 | 0.420 |
Why?
|
| Fragile X Mental Retardation Protein | 1 | 2013 | 1 | 0.420 |
Why?
|
| Muscular Dystrophy, Duchenne | 1 | 2013 | 1 | 0.420 |
Why?
|
| Hemoglobinopathies | 1 | 2013 | 3 | 0.420 |
Why?
|
| Young Adult | 7 | 2020 | 2498 | 0.410 |
Why?
|
| Factor VIII | 1 | 2014 | 54 | 0.410 |
Why?
|
| Professional Role | 1 | 2013 | 5 | 0.400 |
Why?
|
| Ectromelia | 1 | 2012 | 1 | 0.380 |
Why?
|
| Upper Extremity Deformities, Congenital | 1 | 2012 | 1 | 0.380 |
Why?
|
| Lower Extremity Deformities, Congenital | 1 | 2012 | 2 | 0.380 |
Why?
|
| Adolescent | 7 | 2020 | 2985 | 0.380 |
Why?
|
| Magnetic Resonance Imaging | 2 | 2024 | 37 | 0.360 |
Why?
|
| Cohort Studies | 4 | 2019 | 967 | 0.350 |
Why?
|
| Mixed Function Oxygenases | 1 | 2011 | 6 | 0.350 |
Why?
|
| Aryl Hydrocarbon Hydroxylases | 1 | 2011 | 8 | 0.350 |
Why?
|
| DNA Mutational Analysis | 7 | 2020 | 34 | 0.350 |
Why?
|
| Genetic Carrier Screening | 3 | 2013 | 12 | 0.340 |
Why?
|
| Pedigree | 5 | 2018 | 30 | 0.320 |
Why?
|
| Cyclic AMP Response Element-Binding Protein | 2 | 2007 | 2 | 0.310 |
Why?
|
| RNA-Binding Proteins | 2 | 2007 | 6 | 0.310 |
Why?
|
| Prognosis | 4 | 2023 | 199 | 0.310 |
Why?
|
| Homozygote | 3 | 2020 | 61 | 0.310 |
Why?
|
| Intellectual Disability | 2 | 2023 | 5 | 0.310 |
Why?
|
| Polymorphism, Single Nucleotide | 5 | 2020 | 198 | 0.280 |
Why?
|
| Africa South of the Sahara | 3 | 2018 | 353 | 0.280 |
Why?
|
| Pregnancy | 5 | 2019 | 1862 | 0.270 |
Why?
|
| Cell Cycle Proteins | 2 | 2024 | 7 | 0.270 |
Why?
|
| Genotype | 6 | 2018 | 442 | 0.260 |
Why?
|
| Cytochrome P-450 CYP2C9 | 2 | 2020 | 3 | 0.250 |
Why?
|
| Genetic Association Studies | 2 | 2015 | 11 | 0.220 |
Why?
|
| Huntingtin Protein | 3 | 2019 | 6 | 0.220 |
Why?
|
| Genomics | 2 | 2022 | 109 | 0.220 |
Why?
|
| Infant, Newborn | 4 | 2019 | 1479 | 0.210 |
Why?
|
| De Lange Syndrome | 1 | 2024 | 2 | 0.210 |
Why?
|
| Brain | 2 | 2024 | 53 | 0.200 |
Why?
|
| Heart Failure | 1 | 2023 | 38 | 0.200 |
Why?
|
| Kidney | 2 | 2013 | 46 | 0.190 |
Why?
|
| Trinucleotide Repeat Expansion | 4 | 2019 | 5 | 0.190 |
Why?
|
| Cross-Sectional Studies | 2 | 2024 | 1422 | 0.190 |
Why?
|
| Maternal Age | 2 | 2019 | 22 | 0.180 |
Why?
|
| Protein Biosynthesis | 1 | 2021 | 8 | 0.180 |
Why?
|
| Puberty | 1 | 2020 | 22 | 0.160 |
Why?
|
| Case-Control Studies | 2 | 2019 | 480 | 0.160 |
Why?
|
| Galactosemias | 1 | 2020 | 1 | 0.160 |
Why?
|
| Trinucleotide Repeats | 3 | 2018 | 3 | 0.160 |
Why?
|
| Irritable Mood | 1 | 2020 | 2 | 0.160 |
Why?
|
| Apathy | 1 | 2020 | 2 | 0.160 |
Why?
|
| Oligonucleotides, Antisense | 1 | 2019 | 6 | 0.160 |
Why?
|
| Blood Glucose | 1 | 2020 | 107 | 0.160 |
Why?
|
| Aggression | 1 | 2020 | 13 | 0.160 |
Why?
|
| Gene Deletion | 1 | 1999 | 19 | 0.160 |
Why?
|
| Infant | 4 | 2020 | 2244 | 0.160 |
Why?
|
| Gene Silencing | 1 | 2019 | 20 | 0.160 |
Why?
|
| Ataxin-7 | 2 | 2018 | 3 | 0.160 |
Why?
|
| Heterozygote | 2 | 2024 | 43 | 0.160 |
Why?
|
| Embryo Implantation | 1 | 2019 | 3 | 0.160 |
Why?
|
| Pregnancy Rate | 1 | 2019 | 8 | 0.160 |
Why?
|
| Electrocardiography | 1 | 2019 | 35 | 0.150 |
Why?
|
| Anticoagulants | 1 | 2020 | 57 | 0.150 |
Why?
|
| Costs and Cost Analysis | 1 | 2019 | 42 | 0.150 |
Why?
|
| Neuromuscular Diseases | 1 | 2019 | 3 | 0.150 |
Why?
|
| Research Design | 1 | 2019 | 124 | 0.150 |
Why?
|
| Genetic Heterogeneity | 1 | 2018 | 9 | 0.150 |
Why?
|
| Depression | 1 | 2020 | 121 | 0.140 |
Why?
|
| Ataxin-2 | 1 | 2018 | 1 | 0.140 |
Why?
|
| TATA-Box Binding Protein | 1 | 2018 | 1 | 0.140 |
Why?
|
| C9orf72 Protein | 1 | 2018 | 2 | 0.140 |
Why?
|
| Rare Diseases | 2 | 2022 | 5 | 0.140 |
Why?
|
| Genes, X-Linked | 1 | 2018 | 1 | 0.140 |
Why?
|
| Early Medical Intervention | 1 | 2018 | 7 | 0.140 |
Why?
|
| Osteochondrodysplasias | 1 | 2018 | 2 | 0.140 |
Why?
|
| Prospective Studies | 3 | 2017 | 1160 | 0.140 |
Why?
|
| Gene Frequency | 4 | 2018 | 122 | 0.140 |
Why?
|
| Abetalipoproteinemia | 1 | 2017 | 2 | 0.140 |
Why?
|
| Blood Cell Count | 1 | 2017 | 15 | 0.140 |
Why?
|
| Early Diagnosis | 1 | 2018 | 82 | 0.140 |
Why?
|
| Flow Cytometry | 1 | 2017 | 67 | 0.140 |
Why?
|
| Genes, BRCA2 | 1 | 2017 | 1 | 0.140 |
Why?
|
| Predictive Value of Tests | 2 | 2023 | 188 | 0.130 |
Why?
|
| Family | 3 | 2024 | 35 | 0.130 |
Why?
|
| Gene Rearrangement | 2 | 2014 | 15 | 0.130 |
Why?
|
| Vitamin K Epoxide Reductases | 2 | 2020 | 3 | 0.130 |
Why?
|
| Genetic Variation | 2 | 2012 | 175 | 0.130 |
Why?
|
| Alleles | 4 | 2019 | 143 | 0.130 |
Why?
|
| Dose-Response Relationship, Drug | 2 | 2020 | 125 | 0.130 |
Why?
|
| Genetic Privacy | 1 | 2016 | 2 | 0.120 |
Why?
|
| Microsatellite Repeats | 1 | 2015 | 14 | 0.120 |
Why?
|
| Sequence Analysis, DNA | 1 | 2016 | 181 | 0.120 |
Why?
|
| Hematopoietic Stem Cell Transplantation | 1 | 2014 | 6 | 0.110 |
Why?
|
| Genome-Wide Association Study | 1 | 2016 | 106 | 0.110 |
Why?
|
| Polycystic Kidney, Autosomal Recessive | 1 | 2014 | 1 | 0.110 |
Why?
|
| Receptors, Cell Surface | 1 | 2014 | 7 | 0.110 |
Why?
|
| Nuclear Proteins | 2 | 2005 | 8 | 0.110 |
Why?
|
| Kruppel-Like Transcription Factors | 1 | 2014 | 2 | 0.110 |
Why?
|
| SMN Complex Proteins | 2 | 2007 | 2 | 0.110 |
Why?
|
| Population Surveillance | 1 | 2016 | 325 | 0.110 |
Why?
|
| Autoantibodies | 1 | 2014 | 49 | 0.110 |
Why?
|
| DNA-Binding Proteins | 2 | 2005 | 20 | 0.110 |
Why?
|
| Ear | 1 | 2013 | 2 | 0.100 |
Why?
|
| Eye Abnormalities | 1 | 2013 | 2 | 0.100 |
Why?
|
| Hand Deformities, Congenital | 1 | 2013 | 2 | 0.100 |
Why?
|
| Skin Pigmentation | 1 | 2013 | 4 | 0.100 |
Why?
|
| Gastrointestinal Tract | 1 | 2013 | 4 | 0.100 |
Why?
|
| Cerebellar Diseases | 1 | 2013 | 1 | 0.100 |
Why?
|
| alpha-Thalassemia | 1 | 2013 | 1 | 0.100 |
Why?
|
| beta-Thalassemia | 1 | 2013 | 1 | 0.100 |
Why?
|
| Frameshift Mutation | 1 | 2013 | 3 | 0.100 |
Why?
|
| Anemia, Sickle Cell | 1 | 2013 | 13 | 0.100 |
Why?
|
| Neural Tube Defects | 1 | 2013 | 6 | 0.100 |
Why?
|
| Societies, Medical | 1 | 2013 | 26 | 0.100 |
Why?
|
| Universities | 1 | 2013 | 34 | 0.100 |
Why?
|
| Risk Factors | 2 | 2014 | 1475 | 0.100 |
Why?
|
| Patient Acceptance of Health Care | 1 | 2015 | 256 | 0.100 |
Why?
|
| Cauda Equina | 1 | 2012 | 1 | 0.100 |
Why?
|
| Esophagus | 1 | 2012 | 2 | 0.100 |
Why?
|
| Trachea | 1 | 2012 | 3 | 0.100 |
Why?
|
| Limb Deformities, Congenital | 1 | 2012 | 2 | 0.100 |
Why?
|
| Spine | 1 | 2012 | 2 | 0.100 |
Why?
|
| Anal Canal | 1 | 2012 | 7 | 0.100 |
Why?
|
| Prevalence | 2 | 2018 | 1192 | 0.090 |
Why?
|
| Heart Defects, Congenital | 1 | 2012 | 12 | 0.090 |
Why?
|
| Waardenburg Syndrome | 1 | 2012 | 1 | 0.090 |
Why?
|
| Microphthalmia-Associated Transcription Factor | 1 | 2012 | 1 | 0.090 |
Why?
|
| Deafness | 1 | 2012 | 3 | 0.090 |
Why?
|
| Albinism, Oculocutaneous | 1 | 2012 | 3 | 0.090 |
Why?
|
| Stillbirth | 1 | 2012 | 83 | 0.090 |
Why?
|
| Linkage Disequilibrium | 1 | 2011 | 40 | 0.090 |
Why?
|
| Surveys and Questionnaires | 1 | 2013 | 563 | 0.090 |
Why?
|
| Africa | 2 | 2022 | 376 | 0.080 |
Why?
|
| Aged, 80 and over | 1 | 2011 | 468 | 0.080 |
Why?
|
| HIV | 1 | 2012 | 380 | 0.080 |
Why?
|
| Family Leave | 1 | 2007 | 1 | 0.070 |
Why?
|
| Survival of Motor Neuron 1 Protein | 1 | 2007 | 1 | 0.070 |
Why?
|
| Genetic Linkage | 1 | 2007 | 8 | 0.070 |
Why?
|
| Gene Dosage | 1 | 2007 | 23 | 0.070 |
Why?
|
| Abnormalities, Multiple | 2 | 2018 | 4 | 0.060 |
Why?
|
| Chromosome Aberrations | 2 | 2003 | 5 | 0.060 |
Why?
|
| Age of Onset | 3 | 2014 | 32 | 0.050 |
Why?
|
| Mali | 1 | 2024 | 20 | 0.050 |
Why?
|
| Neurodegenerative Diseases | 1 | 2024 | 19 | 0.050 |
Why?
|
| Gadolinium | 1 | 2023 | 5 | 0.050 |
Why?
|
| Magnetic Resonance Imaging, Cine | 1 | 2023 | 5 | 0.050 |
Why?
|
| Contrast Media | 1 | 2023 | 6 | 0.050 |
Why?
|
| Stroke Volume | 1 | 2023 | 43 | 0.050 |
Why?
|
| Blepharophimosis | 1 | 2003 | 1 | 0.050 |
Why?
|
| Transcription Factors | 1 | 2003 | 7 | 0.050 |
Why?
|
| Molecular Epidemiology | 2 | 2018 | 47 | 0.050 |
Why?
|
| Ventricular Function, Left | 1 | 2023 | 80 | 0.050 |
Why?
|
| Syndrome | 2 | 2018 | 19 | 0.050 |
Why?
|
| Mutation, Missense | 2 | 2018 | 65 | 0.050 |
Why?
|
| Incidence | 2 | 2005 | 685 | 0.050 |
Why?
|
| Chromatography, Thin Layer | 1 | 2020 | 1 | 0.040 |
Why?
|
| Indicators and Reagents | 1 | 2020 | 4 | 0.040 |
Why?
|
| Copper Sulfate | 1 | 2020 | 2 | 0.040 |
Why?
|
| UTP-Hexose-1-Phosphate Uridylyltransferase | 1 | 2020 | 2 | 0.040 |
Why?
|
| False Negative Reactions | 1 | 2020 | 4 | 0.040 |
Why?
|
| False Positive Reactions | 1 | 2020 | 17 | 0.040 |
Why?
|
| Gene Conversion | 1 | 1999 | 1 | 0.040 |
Why?
|
| Neuronal Apoptosis-Inhibitory Protein | 1 | 1999 | 1 | 0.040 |
Why?
|
| Genes, Recessive | 1 | 1999 | 5 | 0.040 |
Why?
|
| Sleep Wake Disorders | 1 | 2020 | 10 | 0.040 |
Why?
|
| Exons | 1 | 1999 | 17 | 0.040 |
Why?
|
| Chromosome Mapping | 1 | 1999 | 20 | 0.040 |
Why?
|
| DNA | 1 | 2020 | 73 | 0.040 |
Why?
|
| Europe | 1 | 1999 | 56 | 0.040 |
Why?
|
| Reproducibility of Results | 1 | 2020 | 217 | 0.040 |
Why?
|
| Brain Stem | 1 | 2019 | 5 | 0.040 |
Why?
|
| Facies | 1 | 2018 | 1 | 0.040 |
Why?
|
| Filamins | 1 | 2018 | 1 | 0.040 |
Why?
|
| Fatal Outcome | 1 | 2018 | 21 | 0.040 |
Why?
|
| Mutation Rate | 1 | 2018 | 7 | 0.040 |
Why?
|
| Radiography | 1 | 2018 | 80 | 0.030 |
Why?
|
| Introns | 1 | 1997 | 13 | 0.030 |
Why?
|
| Chromosome Inversion | 1 | 1997 | 9 | 0.030 |
Why?
|
| Developing Countries | 1 | 2020 | 400 | 0.030 |
Why?
|
| Kaplan-Meier Estimate | 1 | 2014 | 106 | 0.030 |
Why?
|
| Zinc Finger Protein Gli3 | 1 | 2014 | 1 | 0.030 |
Why?
|
| Acrocephalosyndactylia | 1 | 2014 | 1 | 0.030 |
Why?
|
| Haploinsufficiency | 1 | 2014 | 1 | 0.030 |
Why?
|
| In Situ Hybridization, Fluorescence | 1 | 2014 | 6 | 0.030 |
Why?
|
| HIV Infections | 1 | 2012 | 5097 | 0.030 |
Why?
|
| Risk Assessment | 1 | 2015 | 225 | 0.030 |
Why?
|
| Gene Expression | 1 | 2014 | 43 | 0.030 |
Why?
|
| History, 20th Century | 1 | 2013 | 22 | 0.030 |
Why?
|
| Recurrence | 1 | 2013 | 29 | 0.030 |
Why?
|
| Parity | 1 | 2013 | 19 | 0.030 |
Why?
|
| Polymerase Chain Reaction | 1 | 2014 | 260 | 0.030 |
Why?
|
| Abortion, Spontaneous | 1 | 2013 | 15 | 0.030 |
Why?
|
| Quality of Life | 1 | 2015 | 177 | 0.030 |
Why?
|
| Genes, Dominant | 2 | 2003 | 3 | 0.020 |
Why?
|
| Fanconi Anemia Complementation Group Proteins | 1 | 2005 | 2 | 0.010 |
Why?
|
| Repetitive Sequences, Nucleic Acid | 1 | 2004 | 1 | 0.010 |
Why?
|
| Japan | 1 | 2004 | 7 | 0.010 |
Why?
|
| North America | 1 | 2004 | 11 | 0.010 |
Why?
|
| Base Sequence | 1 | 2005 | 149 | 0.010 |
Why?
|
| Ataxins | 1 | 2003 | 1 | 0.010 |
Why?
|
| Ataxin-1 | 1 | 2003 | 1 | 0.010 |
Why?
|
| Forkhead Box Protein L2 | 1 | 2003 | 1 | 0.010 |
Why?
|
| Nucleic Acid Conformation | 1 | 2003 | 7 | 0.010 |
Why?
|
| 5' Untranslated Regions | 1 | 2003 | 7 | 0.010 |
Why?
|
| Forkhead Transcription Factors | 1 | 2003 | 5 | 0.010 |
Why?
|
| Gene Duplication | 1 | 2003 | 13 | 0.010 |
Why?
|
| Open Reading Frames | 1 | 2003 | 16 | 0.010 |
Why?
|
| Promoter Regions, Genetic | 1 | 2003 | 36 | 0.010 |
Why?
|
| Chromosome Disorders | 1 | 1998 | 1 | 0.010 |
Why?
|