| Name |
Number of Publications
|
Most Recent Publication
|
Publications by All Authors
|
Concept Score
|
Why?
|
|---|
| High-Throughput Nucleotide Sequencing | 6 | 2023 | 481 | 1.690 |
Why?
|
| Genetic Testing | 10 | 2023 | 537 | 1.530 |
Why?
|
| Sequence Deletion | 5 | 2017 | 205 | 1.330 |
Why?
|
| DNA Copy Number Variations | 5 | 2021 | 177 | 1.170 |
Why?
|
| De Lange Syndrome | 2 | 2017 | 10 | 1.070 |
Why?
|
| Heart Defects, Congenital | 3 | 2020 | 363 | 1.070 |
Why?
|
| Gene Rearrangement | 4 | 2011 | 173 | 1.050 |
Why?
|
| Abnormalities, Multiple | 4 | 2020 | 234 | 0.970 |
Why?
|
| Alu Elements | 2 | 2017 | 15 | 0.960 |
Why?
|
| Mutation | 13 | 2021 | 4143 | 0.940 |
Why?
|
| Genetic Association Studies | 6 | 2020 | 294 | 0.930 |
Why?
|
| Diabetes Mellitus | 5 | 2020 | 742 | 0.900 |
Why?
|
| Neurodevelopmental Disorders | 2 | 2020 | 44 | 0.880 |
Why?
|
| Genetics, Medical | 2 | 2020 | 52 | 0.870 |
Why?
|
| Intellectual Disability | 5 | 2020 | 189 | 0.830 |
Why?
|
| Child, Preschool | 19 | 2020 | 3731 | 0.800 |
Why?
|
| Loss of Function Mutation | 2 | 2020 | 46 | 0.770 |
Why?
|
| Semaphorin-3A | 1 | 2020 | 2 | 0.750 |
Why?
|
| Dwarfism | 1 | 2020 | 16 | 0.750 |
Why?
|
| Phenotype | 10 | 2020 | 2440 | 0.750 |
Why?
|
| Dystrophin | 3 | 2010 | 22 | 0.740 |
Why?
|
| Small-Conductance Calcium-Activated Potassium Channels | 1 | 2020 | 14 | 0.740 |
Why?
|
| Codon, Nonsense | 1 | 2020 | 44 | 0.740 |
Why?
|
| Movement Disorders | 1 | 2020 | 44 | 0.730 |
Why?
|
| Hypogonadism | 1 | 2020 | 40 | 0.730 |
Why?
|
| Adaptor Proteins, Signal Transducing | 2 | 2023 | 313 | 0.710 |
Why?
|
| Sequence Analysis, DNA | 5 | 2019 | 866 | 0.670 |
Why?
|
| Molecular Diagnostic Techniques | 2 | 2017 | 73 | 0.660 |
Why?
|
| Repressor Proteins | 2 | 2020 | 423 | 0.610 |
Why?
|
| Ichthyosis | 1 | 2017 | 2 | 0.580 |
Why?
|
| Histone Deacetylases | 1 | 2017 | 70 | 0.580 |
Why?
|
| Coloboma | 1 | 2017 | 12 | 0.580 |
Why?
|
| N-Acetylglucosaminyltransferases | 1 | 2017 | 13 | 0.580 |
Why?
|
| Genetic Predisposition to Disease | 10 | 2023 | 2340 | 0.580 |
Why?
|
| Nuclear Proteins | 4 | 2020 | 726 | 0.580 |
Why?
|
| Neurocutaneous Syndromes | 1 | 2017 | 12 | 0.580 |
Why?
|
| Gene Duplication | 4 | 2017 | 126 | 0.580 |
Why?
|
| Exome | 5 | 2023 | 127 | 0.570 |
Why?
|
| Hearing Loss, Conductive | 1 | 2017 | 17 | 0.570 |
Why?
|
| Multiplex Polymerase Chain Reaction | 1 | 2016 | 35 | 0.540 |
Why?
|
| Infant, Newborn, Diseases | 1 | 2016 | 111 | 0.510 |
Why?
|
| Arginine-tRNA Ligase | 1 | 2015 | 3 | 0.510 |
Why?
|
| Infant, Newborn | 9 | 2021 | 2486 | 0.480 |
Why?
|
| Exons | 8 | 2017 | 451 | 0.470 |
Why?
|
| Mutation, Missense | 4 | 2020 | 277 | 0.460 |
Why?
|
| Infant | 11 | 2021 | 3160 | 0.460 |
Why?
|
| Biomarkers | 2 | 2021 | 1767 | 0.450 |
Why?
|
| DNA Mutational Analysis | 4 | 2015 | 529 | 0.440 |
Why?
|
| Methyl-CpG-Binding Protein 2 | 3 | 2012 | 17 | 0.410 |
Why?
|
| Phosphoproteins | 1 | 2013 | 261 | 0.410 |
Why?
|
| Developmental Disabilities | 3 | 2013 | 202 | 0.410 |
Why?
|
| Gene Dosage | 4 | 2019 | 208 | 0.400 |
Why?
|
| Promoter Regions, Genetic | 1 | 2015 | 956 | 0.390 |
Why?
|
| Humans | 43 | 2023 | 89357 | 0.380 |
Why?
|
| DNA Methylation | 1 | 2016 | 657 | 0.380 |
Why?
|
| Male | 29 | 2023 | 42411 | 0.370 |
Why?
|
| Child | 14 | 2020 | 7174 | 0.360 |
Why?
|
| Oligonucleotide Array Sequence Analysis | 3 | 2010 | 695 | 0.360 |
Why?
|
| Hematologic Diseases | 2 | 2022 | 78 | 0.350 |
Why?
|
| Glycoproteins | 1 | 2011 | 234 | 0.350 |
Why?
|
| Congenital Hyperinsulinism | 2 | 2020 | 14 | 0.330 |
Why?
|
| Comparative Genomic Hybridization | 3 | 2017 | 39 | 0.330 |
Why?
|
| Recombination, Genetic | 1 | 2011 | 445 | 0.320 |
Why?
|
| Germ-Line Mutation | 2 | 2022 | 344 | 0.320 |
Why?
|
| Point Mutation | 3 | 2015 | 245 | 0.310 |
Why?
|
| Muscular Dystrophy, Duchenne | 1 | 2008 | 34 | 0.310 |
Why?
|
| Potassium Channels, Inwardly Rectifying | 2 | 2020 | 121 | 0.310 |
Why?
|
| Base Sequence | 5 | 2017 | 2327 | 0.300 |
Why?
|
| Frameshift Mutation | 2 | 2020 | 51 | 0.300 |
Why?
|
| Female | 25 | 2023 | 46202 | 0.290 |
Why?
|
| Alleles | 3 | 2020 | 1135 | 0.280 |
Why?
|
| Genetic Diseases, X-Linked | 2 | 2017 | 35 | 0.260 |
Why?
|
| Genomic Imprinting | 2 | 2020 | 33 | 0.260 |
Why?
|
| Myelodysplastic Syndromes | 2 | 2021 | 358 | 0.260 |
Why?
|
| Genomics | 5 | 2023 | 762 | 0.250 |
Why?
|
| Genetic Variation | 3 | 2020 | 1374 | 0.230 |
Why?
|
| Gastritis, Atrophic | 1 | 2023 | 4 | 0.230 |
Why?
|
| Adolescent | 11 | 2021 | 9263 | 0.230 |
Why?
|
| Gastritis | 1 | 2023 | 36 | 0.220 |
Why?
|
| Syndrome | 3 | 2020 | 449 | 0.220 |
Why?
|
| Microcephaly | 2 | 2013 | 76 | 0.220 |
Why?
|
| Genome, Human | 3 | 2019 | 767 | 0.210 |
Why?
|
| Programmed Cell Death 1 Ligand 2 Protein | 1 | 2022 | 11 | 0.210 |
Why?
|
| Introns | 2 | 2017 | 299 | 0.200 |
Why?
|
| Facies | 2 | 2020 | 27 | 0.200 |
Why?
|
| Heterozygote | 2 | 2020 | 373 | 0.200 |
Why?
|
| Pectus Carinatum | 1 | 2020 | 1 | 0.190 |
Why?
|
| Kallmann Syndrome | 1 | 2020 | 2 | 0.190 |
Why?
|
| Clubfoot | 1 | 2020 | 3 | 0.190 |
Why?
|
| Young Adult | 8 | 2021 | 6312 | 0.190 |
Why?
|
| Puberty, Delayed | 1 | 2020 | 19 | 0.190 |
Why?
|
| Anemia, Aplastic | 1 | 2021 | 32 | 0.190 |
Why?
|
| Scoliosis | 1 | 2020 | 32 | 0.190 |
Why?
|
| Cerebellar Ataxia | 1 | 2020 | 22 | 0.180 |
Why?
|
| Electrophysiological Phenomena | 1 | 2020 | 51 | 0.180 |
Why?
|
| Muscle Hypotonia | 1 | 2020 | 48 | 0.180 |
Why?
|
| Hematology | 1 | 2020 | 30 | 0.180 |
Why?
|
| Lymphoma | 1 | 2022 | 265 | 0.180 |
Why?
|
| Uniparental Disomy | 1 | 2020 | 5 | 0.180 |
Why?
|
| Haploinsufficiency | 1 | 2020 | 65 | 0.180 |
Why?
|
| Telomerase | 1 | 2020 | 62 | 0.180 |
Why?
|
| Nerve Tissue Proteins | 2 | 2013 | 511 | 0.180 |
Why?
|
| Gene Deletion | 2 | 2013 | 342 | 0.180 |
Why?
|
| Chromosome Breakpoints | 2 | 2017 | 15 | 0.180 |
Why?
|
| Consanguinity | 3 | 2014 | 73 | 0.180 |
Why?
|
| Sulfonylurea Receptors | 1 | 2020 | 50 | 0.180 |
Why?
|
| B7-H1 Antigen | 1 | 2022 | 274 | 0.180 |
Why?
|
| Mesothelioma | 1 | 2023 | 323 | 0.180 |
Why?
|
| Diagnostic Techniques and Procedures | 1 | 2020 | 25 | 0.170 |
Why?
|
| DNA-Binding Proteins | 2 | 2018 | 1242 | 0.170 |
Why?
|
| Cystic Fibrosis Transmembrane Conductance Regulator | 1 | 2020 | 56 | 0.170 |
Why?
|
| White Matter | 1 | 2020 | 84 | 0.170 |
Why?
|
| Patch-Clamp Techniques | 1 | 2020 | 396 | 0.170 |
Why?
|
| Glucokinase | 1 | 2019 | 61 | 0.160 |
Why?
|
| Diabetes Mellitus, Type 2 | 2 | 2019 | 1176 | 0.160 |
Why?
|
| United States | 4 | 2020 | 6989 | 0.160 |
Why?
|
| Histone Demethylases | 1 | 2018 | 32 | 0.160 |
Why?
|
| Vestibular Diseases | 1 | 2018 | 27 | 0.160 |
Why?
|
| Pedigree | 4 | 2013 | 970 | 0.150 |
Why?
|
| Cellular Reprogramming | 1 | 2018 | 41 | 0.150 |
Why?
|
| Ataxia | 1 | 2018 | 39 | 0.150 |
Why?
|
| GATA6 Transcription Factor | 1 | 2018 | 13 | 0.150 |
Why?
|
| Gene Editing | 1 | 2018 | 48 | 0.150 |
Why?
|
| Nucleic Acid Hybridization | 2 | 2009 | 243 | 0.150 |
Why?
|
| X Chromosome Inactivation | 1 | 2017 | 28 | 0.150 |
Why?
|
| Lamin Type A | 1 | 2018 | 26 | 0.150 |
Why?
|
| Hepatocyte Nuclear Factor 1-alpha | 1 | 2018 | 80 | 0.150 |
Why?
|
| Immune System Diseases | 1 | 2017 | 27 | 0.150 |
Why?
|
| Face | 1 | 2018 | 116 | 0.150 |
Why?
|
| Pathology, Molecular | 2 | 2018 | 34 | 0.150 |
Why?
|
| Adult | 9 | 2021 | 26607 | 0.140 |
Why?
|
| Diarrhea | 1 | 2017 | 182 | 0.140 |
Why?
|
| Registries | 2 | 2019 | 784 | 0.140 |
Why?
|
| Forkhead Transcription Factors | 1 | 2017 | 171 | 0.140 |
Why?
|
| Insulin-Secreting Cells | 1 | 2020 | 404 | 0.130 |
Why?
|
| Pancreas | 1 | 2018 | 246 | 0.130 |
Why?
|
| Polymerase Chain Reaction | 2 | 2016 | 922 | 0.130 |
Why?
|
| Prognosis | 3 | 2021 | 3783 | 0.130 |
Why?
|
| Cerebellar Diseases | 1 | 2015 | 21 | 0.120 |
Why?
|
| Chromosome Aberrations | 2 | 2006 | 390 | 0.120 |
Why?
|
| Neoplasm Proteins | 1 | 2018 | 540 | 0.120 |
Why?
|
| Leukemia | 1 | 2017 | 323 | 0.120 |
Why?
|
| Arylsulfatases | 1 | 2014 | 2 | 0.120 |
Why?
|
| Polychondritis, Relapsing | 1 | 2014 | 5 | 0.120 |
Why?
|
| Cell Cycle Proteins | 2 | 2013 | 401 | 0.120 |
Why?
|
| Chondrodysplasia Punctata | 1 | 2014 | 6 | 0.120 |
Why?
|
| Hand Deformities, Congenital | 1 | 2014 | 15 | 0.120 |
Why?
|
| Cartilage Diseases | 1 | 2014 | 18 | 0.120 |
Why?
|
| Pulmonary Valve Stenosis | 1 | 2014 | 18 | 0.120 |
Why?
|
| Glucosyltransferases | 1 | 2013 | 25 | 0.110 |
Why?
|
| Hirsutism | 1 | 2013 | 61 | 0.110 |
Why?
|
| Karyotype | 1 | 2013 | 34 | 0.110 |
Why?
|
| Extracellular Matrix Proteins | 1 | 2014 | 127 | 0.110 |
Why?
|
| Calcium-Binding Proteins | 1 | 2014 | 121 | 0.110 |
Why?
|
| Hearing Loss | 1 | 2013 | 59 | 0.110 |
Why?
|
| Retrospective Studies | 5 | 2022 | 9057 | 0.110 |
Why?
|
| Middle Aged | 5 | 2023 | 25974 | 0.110 |
Why?
|
| Molecular Sequence Data | 2 | 2015 | 3027 | 0.110 |
Why?
|
| Diabetes Mellitus, Type 1 | 1 | 2017 | 560 | 0.100 |
Why?
|
| Calcinosis | 1 | 2014 | 230 | 0.100 |
Why?
|
| Mental Retardation, X-Linked | 1 | 2012 | 31 | 0.100 |
Why?
|
| Biology | 2 | 2023 | 52 | 0.100 |
Why?
|
| T-Lymphocytes | 1 | 2018 | 1224 | 0.100 |
Why?
|
| Computational Biology | 2 | 2019 | 543 | 0.100 |
Why?
|
| Mucopolysaccharidosis II | 1 | 2011 | 2 | 0.100 |
Why?
|
| Segmental Duplications, Genomic | 1 | 2011 | 5 | 0.100 |
Why?
|
| Case-Control Studies | 1 | 2016 | 1862 | 0.100 |
Why?
|
| Repetitive Sequences, Nucleic Acid | 1 | 2011 | 135 | 0.100 |
Why?
|
| Muscular Dystrophies, Limb-Girdle | 1 | 2010 | 15 | 0.090 |
Why?
|
| Reverse Transcriptase Polymerase Chain Reaction | 2 | 2009 | 887 | 0.090 |
Why?
|
| Genetic Loci | 1 | 2011 | 253 | 0.090 |
Why?
|
| Follow-Up Studies | 1 | 2016 | 3666 | 0.080 |
Why?
|
| Methods | 1 | 2008 | 151 | 0.080 |
Why?
|
| RNA, Small Nucleolar | 1 | 2008 | 5 | 0.080 |
Why?
|
| Prader-Willi Syndrome | 1 | 2008 | 8 | 0.080 |
Why?
|
| Magnetic Resonance Imaging | 1 | 2020 | 3448 | 0.080 |
Why?
|
| Chromosomes, Human, Pair 15 | 1 | 2008 | 66 | 0.080 |
Why?
|
| Folic Acid Deficiency | 1 | 2007 | 7 | 0.080 |
Why?
|
| Dyskinesias | 1 | 2007 | 7 | 0.080 |
Why?
|
| Alternative Splicing | 1 | 2009 | 211 | 0.070 |
Why?
|
| Epilepsy | 2 | 2012 | 424 | 0.070 |
Why?
|
| Prospective Studies | 1 | 2016 | 4289 | 0.070 |
Why?
|
| Chromosome Deletion | 1 | 2008 | 229 | 0.070 |
Why?
|
| Receptors, Cell Surface | 1 | 2008 | 289 | 0.070 |
Why?
|
| Biopsy | 2 | 2023 | 1184 | 0.070 |
Why?
|
| Pregnancy | 3 | 2009 | 3018 | 0.070 |
Why?
|
| Microarray Analysis | 1 | 2006 | 96 | 0.070 |
Why?
|
| Autistic Disorder | 1 | 2007 | 150 | 0.070 |
Why?
|
| Chromosomes, Human, X | 1 | 2006 | 55 | 0.070 |
Why?
|
| Prenatal Diagnosis | 1 | 2006 | 110 | 0.070 |
Why?
|
| Exodeoxyribonucleases | 1 | 2023 | 17 | 0.060 |
Why?
|
| Sensitivity and Specificity | 1 | 2008 | 2015 | 0.060 |
Why?
|
| Homozygote | 2 | 2013 | 204 | 0.050 |
Why?
|
| North America | 1 | 2023 | 184 | 0.050 |
Why?
|
| DNA Helicases | 1 | 2023 | 84 | 0.050 |
Why?
|
| Germ Cells | 1 | 2022 | 130 | 0.050 |
Why?
|
| Genes, Recessive | 2 | 2013 | 87 | 0.050 |
Why?
|
| Ligands | 1 | 2022 | 445 | 0.050 |
Why?
|
| Gain of Function Mutation | 1 | 2020 | 13 | 0.040 |
Why?
|
| Telomere | 1 | 2020 | 114 | 0.040 |
Why?
|
| In Situ Hybridization, Fluorescence | 1 | 2020 | 354 | 0.040 |
Why?
|
| Feasibility Studies | 1 | 2022 | 780 | 0.040 |
Why?
|
| Genotype | 2 | 2017 | 1849 | 0.040 |
Why?
|
| Laboratories | 1 | 2019 | 44 | 0.040 |
Why?
|
| Fibroblasts | 1 | 2022 | 755 | 0.040 |
Why?
|
| Interleukin-2 Receptor alpha Subunit | 1 | 2018 | 36 | 0.040 |
Why?
|
| Skull | 1 | 2020 | 255 | 0.040 |
Why?
|
| Canada | 1 | 2018 | 208 | 0.040 |
Why?
|
| CRISPR-Cas Systems | 1 | 2018 | 78 | 0.040 |
Why?
|
| Neoplasm Transplantation | 1 | 2018 | 397 | 0.040 |
Why?
|
| Brain | 1 | 2007 | 2285 | 0.040 |
Why?
|
| Protein Engineering | 1 | 2018 | 141 | 0.040 |
Why?
|
| Rare Diseases | 1 | 2017 | 70 | 0.040 |
Why?
|
| Whole Genome Sequencing | 1 | 2017 | 87 | 0.040 |
Why?
|
| Genetic Diseases, Inborn | 1 | 2017 | 101 | 0.040 |
Why?
|
| Autoimmunity | 1 | 2018 | 168 | 0.040 |
Why?
|
| Aged, 80 and over | 2 | 2018 | 6811 | 0.030 |
Why?
|
| Prevalence | 1 | 2020 | 1243 | 0.030 |
Why?
|
| Polymorphism, Single Nucleotide | 2 | 2017 | 2401 | 0.030 |
Why?
|
| Receptors, Antigen, T-Cell | 1 | 2018 | 394 | 0.030 |
Why?
|
| Acute Disease | 1 | 2017 | 841 | 0.030 |
Why?
|
| Hearing Tests | 1 | 2013 | 11 | 0.030 |
Why?
|
| Maxillofacial Abnormalities | 1 | 2013 | 2 | 0.030 |
Why?
|
| Hair Cells, Auditory, Outer | 1 | 2013 | 17 | 0.030 |
Why?
|
| Chromosomes, Mammalian | 1 | 2013 | 36 | 0.030 |
Why?
|
| Chromosomes, Human | 1 | 2013 | 66 | 0.030 |
Why?
|
| Transgenes | 1 | 2013 | 185 | 0.030 |
Why?
|
| Cells, Cultured | 1 | 2018 | 2884 | 0.030 |
Why?
|
| Amino Acid Substitution | 1 | 2013 | 338 | 0.030 |
Why?
|
| Cytoskeletal Proteins | 1 | 2013 | 228 | 0.030 |
Why?
|
| 3' Untranslated Regions | 1 | 2012 | 94 | 0.030 |
Why?
|
| Mice | 2 | 2018 | 11761 | 0.030 |
Why?
|
| Chromosome Mapping | 1 | 2013 | 1076 | 0.020 |
Why?
|
| Aged | 2 | 2018 | 19165 | 0.020 |
Why?
|
| Mice, Transgenic | 1 | 2013 | 1574 | 0.020 |
Why?
|
| Ectromelia | 1 | 2008 | 4 | 0.020 |
Why?
|
| Receptor Tyrosine Kinase-like Orphan Receptors | 1 | 2008 | 4 | 0.020 |
Why?
|
| Genitalia | 1 | 2008 | 21 | 0.020 |
Why?
|
| Craniofacial Abnormalities | 1 | 2008 | 36 | 0.020 |
Why?
|
| snRNP Core Proteins | 1 | 2008 | 9 | 0.020 |
Why?
|
| Chromosome Breakage | 1 | 2008 | 17 | 0.020 |
Why?
|
| Ribonucleoproteins, Small Nuclear | 1 | 2008 | 20 | 0.020 |
Why?
|
| Tetrahydrofolates | 1 | 2007 | 13 | 0.020 |
Why?
|
| Spine | 1 | 2008 | 102 | 0.020 |
Why?
|
| Psychomotor Disorders | 1 | 2007 | 20 | 0.020 |
Why?
|
| DNA Primers | 1 | 2008 | 543 | 0.020 |
Why?
|
| Folic Acid | 1 | 2007 | 63 | 0.020 |
Why?
|
| Autoantigens | 1 | 2008 | 129 | 0.020 |
Why?
|
| Chromosome Banding | 1 | 2006 | 74 | 0.020 |
Why?
|
| Muscle, Skeletal | 1 | 2010 | 468 | 0.020 |
Why?
|
| Chromosomes, Human, Pair 3 | 1 | 2006 | 54 | 0.020 |
Why?
|
| Animals | 2 | 2018 | 27371 | 0.020 |
Why?
|
| Disease Models, Animal | 1 | 2013 | 2366 | 0.020 |
Why?
|
| Reference Values | 1 | 2007 | 661 | 0.020 |
Why?
|
| Genetic Counseling | 1 | 2006 | 101 | 0.020 |
Why?
|
| Transcription, Genetic | 1 | 2008 | 1157 | 0.010 |
Why?
|
| RNA, Messenger | 1 | 2008 | 2017 | 0.010 |
Why?
|
| Decision Making | 1 | 2006 | 667 | 0.010 |
Why?
|