| Name |
Number of Publications
|
Most Recent Publication
|
Publications by All Authors
|
Concept Score
|
Why?
|
|---|
| High-Throughput Nucleotide Sequencing | 6 | 2023 | 538 | 1.490 |
Why?
|
| Genetic Testing | 10 | 2023 | 564 | 1.380 |
Why?
|
| Sequence Deletion | 5 | 2017 | 206 | 1.170 |
Why?
|
| DNA Copy Number Variations | 5 | 2021 | 192 | 1.040 |
Why?
|
| Diabetes Mellitus | 6 | 2024 | 762 | 0.950 |
Why?
|
| Heart Defects, Congenital | 3 | 2020 | 364 | 0.950 |
Why?
|
| De Lange Syndrome | 2 | 2017 | 10 | 0.950 |
Why?
|
| Gene Rearrangement | 4 | 2011 | 168 | 0.940 |
Why?
|
| Abnormalities, Multiple | 4 | 2020 | 229 | 0.880 |
Why?
|
| Alu Elements | 2 | 2017 | 15 | 0.850 |
Why?
|
| Mutation | 13 | 2021 | 4265 | 0.840 |
Why?
|
| Genetic Association Studies | 6 | 2020 | 300 | 0.830 |
Why?
|
| Neurodevelopmental Disorders | 2 | 2020 | 50 | 0.780 |
Why?
|
| Genetics, Medical | 2 | 2020 | 51 | 0.770 |
Why?
|
| Child, Preschool | 20 | 2024 | 3781 | 0.750 |
Why?
|
| Intellectual Disability | 5 | 2020 | 196 | 0.740 |
Why?
|
| Loss of Function Mutation | 2 | 2020 | 49 | 0.680 |
Why?
|
| Semaphorin-3A | 1 | 2020 | 2 | 0.670 |
Why?
|
| Dwarfism | 1 | 2020 | 12 | 0.670 |
Why?
|
| Phenotype | 10 | 2020 | 2545 | 0.660 |
Why?
|
| Infant, Newborn, Diseases | 2 | 2024 | 91 | 0.660 |
Why?
|
| Dystrophin | 3 | 2010 | 24 | 0.660 |
Why?
|
| Small-Conductance Calcium-Activated Potassium Channels | 1 | 2020 | 15 | 0.660 |
Why?
|
| Codon, Nonsense | 1 | 2020 | 47 | 0.650 |
Why?
|
| Movement Disorders | 1 | 2020 | 43 | 0.650 |
Why?
|
| Hypogonadism | 1 | 2020 | 43 | 0.640 |
Why?
|
| Adaptor Proteins, Signal Transducing | 2 | 2023 | 304 | 0.640 |
Why?
|
| Sequence Analysis, DNA | 5 | 2019 | 891 | 0.600 |
Why?
|
| Molecular Diagnostic Techniques | 2 | 2017 | 74 | 0.590 |
Why?
|
| Repressor Proteins | 2 | 2020 | 443 | 0.550 |
Why?
|
| Nuclear Proteins | 4 | 2020 | 740 | 0.520 |
Why?
|
| Ichthyosis | 1 | 2017 | 2 | 0.520 |
Why?
|
| Coloboma | 1 | 2017 | 12 | 0.510 |
Why?
|
| N-Acetylglucosaminyltransferases | 1 | 2017 | 14 | 0.510 |
Why?
|
| Genetic Predisposition to Disease | 10 | 2023 | 2465 | 0.510 |
Why?
|
| Gene Duplication | 4 | 2017 | 128 | 0.510 |
Why?
|
| Neurocutaneous Syndromes | 1 | 2017 | 12 | 0.510 |
Why?
|
| Histone Deacetylases | 1 | 2017 | 86 | 0.510 |
Why?
|
| Hearing Loss, Conductive | 1 | 2017 | 15 | 0.510 |
Why?
|
| Exome | 5 | 2023 | 141 | 0.500 |
Why?
|
| Multiplex Polymerase Chain Reaction | 1 | 2016 | 38 | 0.480 |
Why?
|
| Infant, Newborn | 10 | 2024 | 2427 | 0.470 |
Why?
|
| Arginine-tRNA Ligase | 1 | 2015 | 3 | 0.450 |
Why?
|
| Infant | 12 | 2024 | 3156 | 0.450 |
Why?
|
| Exons | 8 | 2017 | 447 | 0.420 |
Why?
|
| Mutation, Missense | 4 | 2020 | 296 | 0.400 |
Why?
|
| Biomarkers | 2 | 2021 | 1905 | 0.400 |
Why?
|
| DNA Mutational Analysis | 4 | 2015 | 543 | 0.390 |
Why?
|
| DNA Methylation | 2 | 2024 | 699 | 0.380 |
Why?
|
| Phosphoproteins | 1 | 2013 | 258 | 0.370 |
Why?
|
| Developmental Disabilities | 3 | 2013 | 204 | 0.370 |
Why?
|
| Methyl-CpG-Binding Protein 2 | 3 | 2012 | 17 | 0.370 |
Why?
|
| Child | 15 | 2024 | 7273 | 0.350 |
Why?
|
| Gene Dosage | 4 | 2019 | 211 | 0.350 |
Why?
|
| Promoter Regions, Genetic | 1 | 2015 | 958 | 0.350 |
Why?
|
| Humans | 44 | 2024 | 93132 | 0.350 |
Why?
|
| Male | 30 | 2024 | 44355 | 0.340 |
Why?
|
| Oligonucleotide Array Sequence Analysis | 3 | 2010 | 691 | 0.320 |
Why?
|
| Hematologic Diseases | 2 | 2022 | 77 | 0.310 |
Why?
|
| Glycoproteins | 1 | 2011 | 216 | 0.310 |
Why?
|
| Congenital Hyperinsulinism | 2 | 2020 | 15 | 0.300 |
Why?
|
| Recombination, Genetic | 1 | 2011 | 420 | 0.290 |
Why?
|
| Comparative Genomic Hybridization | 3 | 2017 | 40 | 0.290 |
Why?
|
| Point Mutation | 3 | 2015 | 237 | 0.280 |
Why?
|
| Germ-Line Mutation | 2 | 2022 | 381 | 0.280 |
Why?
|
| Base Sequence | 5 | 2017 | 2207 | 0.270 |
Why?
|
| Potassium Channels, Inwardly Rectifying | 2 | 2020 | 121 | 0.270 |
Why?
|
| Muscular Dystrophy, Duchenne | 1 | 2008 | 39 | 0.270 |
Why?
|
| Female | 26 | 2024 | 48542 | 0.270 |
Why?
|
| Frameshift Mutation | 2 | 2020 | 50 | 0.270 |
Why?
|
| Alleles | 3 | 2020 | 1139 | 0.260 |
Why?
|
| Genetic Diseases, X-Linked | 2 | 2017 | 36 | 0.230 |
Why?
|
| Genomic Imprinting | 2 | 2020 | 32 | 0.230 |
Why?
|
| Adolescent | 12 | 2024 | 9550 | 0.230 |
Why?
|
| Myelodysplastic Syndromes | 2 | 2021 | 379 | 0.230 |
Why?
|
| Genomics | 5 | 2023 | 848 | 0.220 |
Why?
|
| Chromosomes, Human, Pair 6 | 1 | 2024 | 127 | 0.210 |
Why?
|
| Genetic Variation | 3 | 2020 | 1416 | 0.210 |
Why?
|
| Gastritis, Atrophic | 1 | 2023 | 4 | 0.200 |
Why?
|
| Gastritis | 1 | 2023 | 38 | 0.200 |
Why?
|
| Syndrome | 3 | 2020 | 432 | 0.190 |
Why?
|
| Microcephaly | 2 | 2013 | 77 | 0.190 |
Why?
|
| Genome, Human | 3 | 2019 | 823 | 0.180 |
Why?
|
| Programmed Cell Death 1 Ligand 2 Protein | 1 | 2022 | 11 | 0.180 |
Why?
|
| Introns | 2 | 2017 | 298 | 0.180 |
Why?
|
| Heterozygote | 2 | 2020 | 381 | 0.170 |
Why?
|
| Facies | 2 | 2020 | 29 | 0.170 |
Why?
|
| Pectus Carinatum | 1 | 2020 | 1 | 0.170 |
Why?
|
| Kallmann Syndrome | 1 | 2020 | 2 | 0.170 |
Why?
|
| Clubfoot | 1 | 2020 | 3 | 0.170 |
Why?
|
| Young Adult | 8 | 2021 | 6922 | 0.170 |
Why?
|
| Puberty, Delayed | 1 | 2020 | 18 | 0.170 |
Why?
|
| Anemia, Aplastic | 1 | 2021 | 31 | 0.170 |
Why?
|
| Cerebellar Ataxia | 1 | 2020 | 26 | 0.160 |
Why?
|
| Electrophysiological Phenomena | 1 | 2020 | 49 | 0.160 |
Why?
|
| Scoliosis | 1 | 2020 | 40 | 0.160 |
Why?
|
| Muscle Hypotonia | 1 | 2020 | 47 | 0.160 |
Why?
|
| Lymphoma | 1 | 2022 | 247 | 0.160 |
Why?
|
| Hematology | 1 | 2020 | 32 | 0.160 |
Why?
|
| Nerve Tissue Proteins | 2 | 2013 | 501 | 0.160 |
Why?
|
| DNA-Binding Proteins | 2 | 2018 | 1231 | 0.160 |
Why?
|
| Uniparental Disomy | 1 | 2020 | 5 | 0.160 |
Why?
|
| Gene Deletion | 2 | 2013 | 351 | 0.160 |
Why?
|
| Haploinsufficiency | 1 | 2020 | 69 | 0.160 |
Why?
|
| Telomerase | 1 | 2020 | 67 | 0.160 |
Why?
|
| Mesothelioma | 1 | 2023 | 331 | 0.160 |
Why?
|
| Chromosome Breakpoints | 2 | 2017 | 15 | 0.160 |
Why?
|
| Consanguinity | 3 | 2014 | 72 | 0.160 |
Why?
|
| Sulfonylurea Receptors | 1 | 2020 | 49 | 0.160 |
Why?
|
| Diagnostic Techniques and Procedures | 1 | 2020 | 24 | 0.160 |
Why?
|
| B7-H1 Antigen | 1 | 2022 | 305 | 0.150 |
Why?
|
| Cystic Fibrosis Transmembrane Conductance Regulator | 1 | 2020 | 57 | 0.150 |
Why?
|
| Patch-Clamp Techniques | 1 | 2020 | 378 | 0.150 |
Why?
|
| White Matter | 1 | 2020 | 96 | 0.150 |
Why?
|
| Glucokinase | 1 | 2019 | 61 | 0.150 |
Why?
|
| Diabetes Mellitus, Type 2 | 2 | 2019 | 1229 | 0.140 |
Why?
|
| Pedigree | 4 | 2013 | 962 | 0.140 |
Why?
|
| Histone Demethylases | 1 | 2018 | 34 | 0.140 |
Why?
|
| Vestibular Diseases | 1 | 2018 | 28 | 0.140 |
Why?
|
| United States | 4 | 2020 | 7581 | 0.140 |
Why?
|
| Ataxia | 1 | 2018 | 45 | 0.140 |
Why?
|
| Cellular Reprogramming | 1 | 2018 | 50 | 0.140 |
Why?
|
| GATA6 Transcription Factor | 1 | 2018 | 13 | 0.140 |
Why?
|
| Gene Editing | 1 | 2018 | 51 | 0.140 |
Why?
|
| Nucleic Acid Hybridization | 2 | 2009 | 194 | 0.140 |
Why?
|
| Lamin Type A | 1 | 2018 | 26 | 0.130 |
Why?
|
| X Chromosome Inactivation | 1 | 2017 | 30 | 0.130 |
Why?
|
| Face | 1 | 2018 | 108 | 0.130 |
Why?
|
| Hepatocyte Nuclear Factor 1-alpha | 1 | 2018 | 80 | 0.130 |
Why?
|
| Immune System Diseases | 1 | 2017 | 25 | 0.130 |
Why?
|
| Pathology, Molecular | 2 | 2018 | 34 | 0.130 |
Why?
|
| Adult | 9 | 2021 | 27849 | 0.130 |
Why?
|
| Diarrhea | 1 | 2017 | 176 | 0.120 |
Why?
|
| Forkhead Transcription Factors | 1 | 2017 | 174 | 0.120 |
Why?
|
| Insulin-Secreting Cells | 1 | 2020 | 441 | 0.120 |
Why?
|
| Pancreas | 1 | 2018 | 256 | 0.120 |
Why?
|
| Polymerase Chain Reaction | 2 | 2016 | 888 | 0.120 |
Why?
|
| Registries | 2 | 2019 | 995 | 0.120 |
Why?
|
| Prognosis | 3 | 2021 | 3890 | 0.110 |
Why?
|
| Chromosome Aberrations | 2 | 2006 | 348 | 0.110 |
Why?
|
| Cerebellar Diseases | 1 | 2015 | 22 | 0.110 |
Why?
|
| Neoplasm Proteins | 1 | 2018 | 537 | 0.110 |
Why?
|
| Leukemia | 1 | 2017 | 300 | 0.110 |
Why?
|
| Cell Cycle Proteins | 2 | 2013 | 409 | 0.110 |
Why?
|
| Arylsulfatases | 1 | 2014 | 2 | 0.100 |
Why?
|
| Polychondritis, Relapsing | 1 | 2014 | 5 | 0.100 |
Why?
|
| Hand Deformities, Congenital | 1 | 2014 | 15 | 0.100 |
Why?
|
| Chondrodysplasia Punctata | 1 | 2014 | 7 | 0.100 |
Why?
|
| Cartilage Diseases | 1 | 2014 | 12 | 0.100 |
Why?
|
| Pulmonary Valve Stenosis | 1 | 2014 | 17 | 0.100 |
Why?
|
| Glucosyltransferases | 1 | 2013 | 25 | 0.100 |
Why?
|
| Hirsutism | 1 | 2013 | 53 | 0.100 |
Why?
|
| Karyotype | 1 | 2013 | 34 | 0.100 |
Why?
|
| Extracellular Matrix Proteins | 1 | 2014 | 113 | 0.100 |
Why?
|
| Calcium-Binding Proteins | 1 | 2014 | 119 | 0.100 |
Why?
|
| Molecular Sequence Data | 2 | 2015 | 2889 | 0.100 |
Why?
|
| Hearing Loss | 1 | 2013 | 64 | 0.100 |
Why?
|
| Middle Aged | 5 | 2023 | 27535 | 0.090 |
Why?
|
| Retrospective Studies | 5 | 2022 | 10128 | 0.090 |
Why?
|
| Calcinosis | 1 | 2014 | 219 | 0.090 |
Why?
|
| Diabetes Mellitus, Type 1 | 1 | 2017 | 590 | 0.090 |
Why?
|
| Biology | 2 | 2023 | 51 | 0.090 |
Why?
|
| Case-Control Studies | 1 | 2016 | 1925 | 0.090 |
Why?
|
| T-Lymphocytes | 1 | 2018 | 1276 | 0.090 |
Why?
|
| Mucopolysaccharidosis II | 1 | 2011 | 2 | 0.090 |
Why?
|
| Segmental Duplications, Genomic | 1 | 2011 | 7 | 0.090 |
Why?
|
| Computational Biology | 2 | 2019 | 581 | 0.090 |
Why?
|
| Repetitive Sequences, Nucleic Acid | 1 | 2011 | 128 | 0.090 |
Why?
|
| Muscular Dystrophies, Limb-Girdle | 1 | 2010 | 15 | 0.080 |
Why?
|
| Reverse Transcriptase Polymerase Chain Reaction | 2 | 2009 | 885 | 0.080 |
Why?
|
| Genetic Loci | 1 | 2011 | 260 | 0.080 |
Why?
|
| Follow-Up Studies | 1 | 2016 | 3814 | 0.070 |
Why?
|
| Magnetic Resonance Imaging | 1 | 2020 | 3450 | 0.070 |
Why?
|
| Methods | 1 | 2008 | 135 | 0.070 |
Why?
|
| Prader-Willi Syndrome | 1 | 2008 | 8 | 0.070 |
Why?
|
| RNA, Small Nucleolar | 1 | 2008 | 8 | 0.070 |
Why?
|
| Chromosomes, Human, Pair 15 | 1 | 2008 | 65 | 0.070 |
Why?
|
| Folic Acid Deficiency | 1 | 2007 | 6 | 0.070 |
Why?
|
| Dyskinesias | 1 | 2007 | 7 | 0.070 |
Why?
|
| Epilepsy | 2 | 2012 | 434 | 0.070 |
Why?
|
| Alternative Splicing | 1 | 2009 | 220 | 0.070 |
Why?
|
| Chromosome Deletion | 1 | 2008 | 213 | 0.070 |
Why?
|
| Prospective Studies | 1 | 2016 | 4546 | 0.070 |
Why?
|
| Receptors, Cell Surface | 1 | 2008 | 291 | 0.060 |
Why?
|
| Biopsy | 2 | 2023 | 1172 | 0.060 |
Why?
|
| Pregnancy | 3 | 2009 | 3128 | 0.060 |
Why?
|
| Autistic Disorder | 1 | 2007 | 150 | 0.060 |
Why?
|
| Microarray Analysis | 1 | 2006 | 95 | 0.060 |
Why?
|
| Chromosomes, Human, X | 1 | 2006 | 56 | 0.060 |
Why?
|
| Prenatal Diagnosis | 1 | 2006 | 107 | 0.060 |
Why?
|
| Sensitivity and Specificity | 1 | 2008 | 1909 | 0.050 |
Why?
|
| Exodeoxyribonucleases | 1 | 2023 | 15 | 0.050 |
Why?
|
| Homozygote | 2 | 2013 | 206 | 0.050 |
Why?
|
| North America | 1 | 2023 | 197 | 0.050 |
Why?
|
| DNA Helicases | 1 | 2023 | 90 | 0.050 |
Why?
|
| Remission Induction | 1 | 2024 | 737 | 0.050 |
Why?
|
| Germ Cells | 1 | 2022 | 130 | 0.040 |
Why?
|
| Genes, Recessive | 2 | 2013 | 85 | 0.040 |
Why?
|
| Ligands | 1 | 2022 | 476 | 0.040 |
Why?
|
| Gain of Function Mutation | 1 | 2020 | 15 | 0.040 |
Why?
|
| Feasibility Studies | 1 | 2022 | 753 | 0.040 |
Why?
|
| Telomere | 1 | 2020 | 119 | 0.040 |
Why?
|
| Genotype | 2 | 2017 | 1866 | 0.040 |
Why?
|
| In Situ Hybridization, Fluorescence | 1 | 2020 | 360 | 0.040 |
Why?
|
| Laboratories | 1 | 2019 | 46 | 0.040 |
Why?
|
| Fibroblasts | 1 | 2022 | 752 | 0.040 |
Why?
|
| Interleukin-2 Receptor alpha Subunit | 1 | 2018 | 38 | 0.030 |
Why?
|
| Skull | 1 | 2020 | 267 | 0.030 |
Why?
|
| Canada | 1 | 2018 | 194 | 0.030 |
Why?
|
| Neoplasm Transplantation | 1 | 2018 | 399 | 0.030 |
Why?
|
| CRISPR-Cas Systems | 1 | 2018 | 98 | 0.030 |
Why?
|
| Brain | 1 | 2007 | 2337 | 0.030 |
Why?
|
| Rare Diseases | 1 | 2017 | 71 | 0.030 |
Why?
|
| Protein Engineering | 1 | 2018 | 148 | 0.030 |
Why?
|
| Genetic Diseases, Inborn | 1 | 2017 | 101 | 0.030 |
Why?
|
| Whole Genome Sequencing | 1 | 2017 | 109 | 0.030 |
Why?
|
| Autoimmunity | 1 | 2018 | 191 | 0.030 |
Why?
|
| Aged, 80 and over | 2 | 2018 | 7039 | 0.030 |
Why?
|
| Polymorphism, Single Nucleotide | 2 | 2017 | 2484 | 0.030 |
Why?
|
| Prevalence | 1 | 2020 | 1318 | 0.030 |
Why?
|
| Receptors, Antigen, T-Cell | 1 | 2018 | 424 | 0.030 |
Why?
|
| Acute Disease | 1 | 2017 | 838 | 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 | 38 | 0.030 |
Why?
|
| Chromosomes, Human | 1 | 2013 | 65 | 0.020 |
Why?
|
| Transgenes | 1 | 2013 | 171 | 0.020 |
Why?
|
| Cells, Cultured | 1 | 2018 | 2827 | 0.020 |
Why?
|
| Amino Acid Substitution | 1 | 2013 | 331 | 0.020 |
Why?
|
| Cytoskeletal Proteins | 1 | 2013 | 222 | 0.020 |
Why?
|
| 3' Untranslated Regions | 1 | 2012 | 98 | 0.020 |
Why?
|
| Mice | 2 | 2018 | 12230 | 0.020 |
Why?
|
| Chromosome Mapping | 1 | 2013 | 1051 | 0.020 |
Why?
|
| Mice, Transgenic | 1 | 2013 | 1581 | 0.020 |
Why?
|
| Aged | 2 | 2018 | 20395 | 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 | 18 | 0.020 |
Why?
|
| Craniofacial Abnormalities | 1 | 2008 | 34 | 0.020 |
Why?
|
| snRNP Core Proteins | 1 | 2008 | 9 | 0.020 |
Why?
|
| Chromosome Breakage | 1 | 2008 | 16 | 0.020 |
Why?
|
| Ribonucleoproteins, Small Nuclear | 1 | 2008 | 20 | 0.020 |
Why?
|
| Tetrahydrofolates | 1 | 2007 | 12 | 0.020 |
Why?
|
| Psychomotor Disorders | 1 | 2007 | 20 | 0.020 |
Why?
|
| DNA Primers | 1 | 2008 | 528 | 0.020 |
Why?
|
| Folic Acid | 1 | 2007 | 62 | 0.020 |
Why?
|
| Autoantigens | 1 | 2008 | 138 | 0.020 |
Why?
|
| Spine | 1 | 2008 | 147 | 0.020 |
Why?
|
| Muscle, Skeletal | 1 | 2010 | 473 | 0.020 |
Why?
|
| Chromosome Banding | 1 | 2006 | 66 | 0.020 |
Why?
|
| Chromosomes, Human, Pair 3 | 1 | 2006 | 54 | 0.020 |
Why?
|
| Animals | 2 | 2018 | 27973 | 0.020 |
Why?
|
| Reference Values | 1 | 2007 | 603 | 0.020 |
Why?
|
| Disease Models, Animal | 1 | 2013 | 2479 | 0.020 |
Why?
|
| Genetic Counseling | 1 | 2006 | 100 | 0.010 |
Why?
|
| Transcription, Genetic | 1 | 2008 | 1114 | 0.010 |
Why?
|
| RNA, Messenger | 1 | 2008 | 2020 | 0.010 |
Why?
|
| Decision Making | 1 | 2006 | 671 | 0.010 |
Why?
|