| Name |
Number of Publications
|
Most Recent Publication
|
Publications by All Authors
|
Concept Score
|
Why?
|
|---|
| Genetic Testing | 6 | 2023 | 1589 | 0.760 |
Why?
|
| Learning | 1 | 2023 | 403 | 0.720 |
Why?
|
| Craniofacial Abnormalities | 2 | 2017 | 239 | 0.660 |
Why?
|
| Myopathies, Nemaline | 1 | 2017 | 9 | 0.610 |
Why?
|
| Vesicular Transport Proteins | 1 | 2018 | 135 | 0.590 |
Why?
|
| Chromosome Duplication | 2 | 2015 | 157 | 0.570 |
Why?
|
| Genetic Counseling | 7 | 2021 | 380 | 0.540 |
Why?
|
| Abnormalities, Multiple | 7 | 2021 | 998 | 0.540 |
Why?
|
| Developmental Disabilities | 3 | 2018 | 674 | 0.500 |
Why?
|
| Phenotype | 11 | 2022 | 6295 | 0.500 |
Why?
|
| Chromosomes, Human, Pair 17 | 2 | 2015 | 641 | 0.490 |
Why?
|
| Costello Syndrome | 2 | 2023 | 18 | 0.450 |
Why?
|
| Noonan Syndrome | 2 | 2023 | 26 | 0.450 |
Why?
|
| Smith-Magenis Syndrome | 1 | 2013 | 126 | 0.440 |
Why?
|
| Genetic Diseases, Inborn | 5 | 2020 | 442 | 0.430 |
Why?
|
| 1,4-alpha-Glucan Branching Enzyme | 1 | 2012 | 7 | 0.430 |
Why?
|
| Glycogen Storage Disease Type IV | 1 | 2012 | 10 | 0.420 |
Why?
|
| Mononuclear Phagocyte System | 1 | 2012 | 12 | 0.420 |
Why?
|
| Carnitine | 1 | 2012 | 94 | 0.420 |
Why?
|
| Fanconi Anemia Complementation Group Proteins | 1 | 2011 | 40 | 0.410 |
Why?
|
| Metabolism, Inborn Errors | 1 | 2012 | 108 | 0.400 |
Why?
|
| Fanconi Anemia | 1 | 2011 | 88 | 0.390 |
Why?
|
| Limb Deformities, Congenital | 1 | 2011 | 112 | 0.380 |
Why?
|
| Chromosomes, Human, Pair 15 | 1 | 2012 | 231 | 0.380 |
Why?
|
| Primary Myelofibrosis | 1 | 2018 | 831 | 0.370 |
Why?
|
| Counselors | 2 | 2021 | 18 | 0.360 |
Why?
|
| Ectodermal Dysplasia | 2 | 2023 | 39 | 0.360 |
Why?
|
| Heart Defects, Congenital | 4 | 2023 | 1697 | 0.360 |
Why?
|
| Intellectual Disability | 4 | 2018 | 1032 | 0.350 |
Why?
|
| Haploinsufficiency | 3 | 2019 | 294 | 0.320 |
Why?
|
| Chromosome Aberrations | 2 | 2012 | 1960 | 0.290 |
Why?
|
| Facies | 3 | 2017 | 149 | 0.290 |
Why?
|
| Pedigree | 5 | 2018 | 1890 | 0.290 |
Why?
|
| Gene Deletion | 1 | 2011 | 1442 | 0.280 |
Why?
|
| Infant | 13 | 2020 | 13310 | 0.280 |
Why?
|
| Mutation | 8 | 2019 | 15179 | 0.250 |
Why?
|
| Fatal Outcome | 2 | 2018 | 829 | 0.220 |
Why?
|
| Exome | 6 | 2021 | 1239 | 0.220 |
Why?
|
| ras Proteins | 3 | 2023 | 770 | 0.210 |
Why?
|
| Epileptic Syndromes | 1 | 2022 | 26 | 0.210 |
Why?
|
| Comparative Genomic Hybridization | 3 | 2015 | 691 | 0.210 |
Why?
|
| Writing | 1 | 2023 | 104 | 0.210 |
Why?
|
| Chromosome Disorders | 2 | 2015 | 417 | 0.210 |
Why?
|
| Micrognathism | 1 | 2021 | 66 | 0.200 |
Why?
|
| Transition to Adult Care | 1 | 2023 | 97 | 0.200 |
Why?
|
| Chromosome Deletion | 2 | 2017 | 1005 | 0.200 |
Why?
|
| Hand Deformities, Congenital | 1 | 2021 | 87 | 0.190 |
Why?
|
| Child, Preschool | 11 | 2020 | 16273 | 0.190 |
Why?
|
| Genes, Developmental | 1 | 2020 | 12 | 0.190 |
Why?
|
| Spasms, Infantile | 1 | 2022 | 165 | 0.190 |
Why?
|
| Actins | 2 | 2021 | 608 | 0.190 |
Why?
|
| Genetic Carrier Screening | 1 | 2020 | 92 | 0.180 |
Why?
|
| Intestinal Pseudo-Obstruction | 1 | 2019 | 39 | 0.180 |
Why?
|
| Infant, Newborn | 7 | 2021 | 8223 | 0.170 |
Why?
|
| Humans | 34 | 2023 | 261506 | 0.170 |
Why?
|
| Syndrome | 3 | 2018 | 1351 | 0.170 |
Why?
|
| Tumor Necrosis Factor Receptor-Associated Peptides and Proteins | 1 | 2018 | 23 | 0.160 |
Why?
|
| Gonadal Dysgenesis, 46,XY | 1 | 2018 | 26 | 0.160 |
Why?
|
| Child | 13 | 2023 | 29154 | 0.160 |
Why?
|
| Sulfite Reductase (Ferredoxin) | 1 | 2017 | 2 | 0.160 |
Why?
|
| Ferredoxins | 1 | 2017 | 5 | 0.160 |
Why?
|
| Transcription Factors | 3 | 2019 | 5270 | 0.160 |
Why?
|
| Hypertrichosis | 1 | 2017 | 7 | 0.160 |
Why?
|
| Consanguinity | 1 | 2018 | 114 | 0.160 |
Why?
|
| Heterogeneous-Nuclear Ribonucleoprotein U | 1 | 2017 | 8 | 0.160 |
Why?
|
| Amino Acid Substitution | 1 | 2019 | 644 | 0.160 |
Why?
|
| Carbidopa | 1 | 2017 | 17 | 0.150 |
Why?
|
| Aromatic-L-Amino-Acid Decarboxylases | 1 | 2017 | 17 | 0.150 |
Why?
|
| Optic Atrophy | 1 | 2017 | 46 | 0.150 |
Why?
|
| Mitogen-Activated Protein Kinase Kinases | 1 | 2019 | 371 | 0.150 |
Why?
|
| Antiporters | 1 | 2017 | 71 | 0.150 |
Why?
|
| Congenital Abnormalities | 1 | 2020 | 260 | 0.150 |
Why?
|
| Levodopa | 1 | 2017 | 92 | 0.150 |
Why?
|
| Dopamine Agonists | 1 | 2017 | 85 | 0.150 |
Why?
|
| Arginine | 1 | 2019 | 500 | 0.140 |
Why?
|
| Amino Acid Metabolism, Inborn Errors | 1 | 2017 | 105 | 0.140 |
Why?
|
| Parents | 1 | 2023 | 998 | 0.140 |
Why?
|
| Craniosynostoses | 1 | 2017 | 98 | 0.140 |
Why?
|
| Ductus Arteriosus, Patent | 1 | 2017 | 137 | 0.130 |
Why?
|
| Language Development Disorders | 1 | 2017 | 167 | 0.130 |
Why?
|
| Myelin Proteins | 1 | 2015 | 90 | 0.130 |
Why?
|
| Mitochondrial Proteins | 1 | 2017 | 369 | 0.130 |
Why?
|
| Genetic Association Studies | 1 | 2019 | 1084 | 0.130 |
Why?
|
| Calcium-Binding Proteins | 1 | 2017 | 545 | 0.130 |
Why?
|
| Male | 17 | 2022 | 123000 | 0.120 |
Why?
|
| Ubiquitin Thiolesterase | 1 | 2016 | 216 | 0.120 |
Why?
|
| Charcot-Marie-Tooth Disease | 1 | 2015 | 192 | 0.120 |
Why?
|
| Failure to Thrive | 1 | 2014 | 91 | 0.120 |
Why?
|
| Intensive Care Units, Pediatric | 1 | 2017 | 441 | 0.120 |
Why?
|
| Sequence Analysis, DNA | 2 | 2019 | 2483 | 0.120 |
Why?
|
| Muscle Hypotonia | 1 | 2014 | 180 | 0.120 |
Why?
|
| Mitochondria | 2 | 2017 | 1282 | 0.120 |
Why?
|
| Metabolomics | 1 | 2017 | 478 | 0.120 |
Why?
|
| Gene Duplication | 1 | 2015 | 421 | 0.120 |
Why?
|
| Chromosomes, Human, Pair 5 | 1 | 2014 | 259 | 0.110 |
Why?
|
| Female | 19 | 2022 | 141928 | 0.110 |
Why?
|
| Bone Marrow Transplantation | 1 | 2018 | 1581 | 0.110 |
Why?
|
| Mutation, Missense | 1 | 2018 | 1152 | 0.110 |
Why?
|
| Disease Management | 2 | 2017 | 1052 | 0.110 |
Why?
|
| Neurodevelopmental Disorders | 1 | 2017 | 413 | 0.110 |
Why?
|
| Receptors, Glycine | 1 | 2011 | 22 | 0.100 |
Why?
|
| Autism Spectrum Disorder | 1 | 2017 | 363 | 0.100 |
Why?
|
| Gene Rearrangement | 1 | 2015 | 783 | 0.100 |
Why?
|
| Muscle Weakness | 1 | 2012 | 116 | 0.100 |
Why?
|
| Ubiquitin-Protein Ligases | 1 | 2017 | 854 | 0.100 |
Why?
|
| Chromosome Breakage | 1 | 2011 | 226 | 0.100 |
Why?
|
| Anal Canal | 1 | 2011 | 238 | 0.090 |
Why?
|
| Precision Medicine | 1 | 2018 | 1154 | 0.090 |
Why?
|
| Prenatal Diagnosis | 2 | 2020 | 590 | 0.090 |
Why?
|
| Spine | 1 | 2011 | 293 | 0.090 |
Why?
|
| Trachea | 1 | 2011 | 259 | 0.090 |
Why?
|
| Genetic Predisposition to Disease | 2 | 2020 | 5539 | 0.090 |
Why?
|
| Seizures | 1 | 2014 | 989 | 0.080 |
Why?
|
| Practice Guidelines as Topic | 2 | 2020 | 2403 | 0.080 |
Why?
|
| Carrier Proteins | 1 | 2017 | 2022 | 0.080 |
Why?
|
| Membrane Proteins | 1 | 2019 | 2819 | 0.080 |
Why?
|
| Cardiovascular Abnormalities | 1 | 2008 | 54 | 0.080 |
Why?
|
| Esophagus | 1 | 2011 | 553 | 0.080 |
Why?
|
| Chromosomes, Human, Pair 22 | 1 | 2008 | 169 | 0.080 |
Why?
|
| MAP Kinase Signaling System | 2 | 2023 | 848 | 0.070 |
Why?
|
| Nucleic Acid Hybridization | 1 | 2008 | 542 | 0.070 |
Why?
|
| Diagnosis, Differential | 2 | 2014 | 4744 | 0.070 |
Why?
|
| Adult | 8 | 2023 | 77950 | 0.070 |
Why?
|
| DNA-Binding Proteins | 2 | 2021 | 4821 | 0.070 |
Why?
|
| Down Syndrome | 1 | 2008 | 226 | 0.070 |
Why?
|
| Young Adult | 4 | 2020 | 21445 | 0.070 |
Why?
|
| Base Sequence | 3 | 2016 | 4917 | 0.060 |
Why?
|
| High-Throughput Nucleotide Sequencing | 1 | 2012 | 2291 | 0.060 |
Why?
|
| Kidney | 1 | 2011 | 2146 | 0.050 |
Why?
|
| Genomics | 2 | 2015 | 2738 | 0.050 |
Why?
|
| Oligonucleotide Array Sequence Analysis | 1 | 2008 | 2508 | 0.050 |
Why?
|
| Amino Acid Sequence | 2 | 2019 | 4233 | 0.050 |
Why?
|
| Adolescent | 5 | 2020 | 31252 | 0.050 |
Why?
|
| Pregnancy | 3 | 2021 | 7573 | 0.050 |
Why?
|
| Hematopoietic Stem Cell Transplantation | 1 | 2018 | 6550 | 0.050 |
Why?
|
| Surveys and Questionnaires | 2 | 2023 | 5687 | 0.040 |
Why?
|
| Neoplasms | 2 | 2023 | 15193 | 0.040 |
Why?
|
| Mitogen-Activated Protein Kinases | 1 | 2022 | 639 | 0.040 |
Why?
|
| Chromosomal Proteins, Non-Histone | 1 | 2021 | 362 | 0.040 |
Why?
|
| Prognosis | 2 | 2015 | 21713 | 0.040 |
Why?
|
| Genotype | 2 | 2019 | 4109 | 0.040 |
Why?
|
| Cutis Laxa | 1 | 2017 | 9 | 0.040 |
Why?
|
| Progeria | 1 | 2017 | 18 | 0.040 |
Why?
|
| Iron-Sulfur Proteins | 1 | 2017 | 22 | 0.040 |
Why?
|
| Infant Care | 1 | 2017 | 48 | 0.040 |
Why?
|
| Electron Transport | 1 | 2017 | 79 | 0.040 |
Why?
|
| Mitochondrial Membranes | 1 | 2017 | 58 | 0.040 |
Why?
|
| Molecular Sequence Data | 2 | 2016 | 6089 | 0.040 |
Why?
|
| Vanilmandelic Acid | 1 | 2017 | 10 | 0.040 |
Why?
|
| Health Personnel | 1 | 2023 | 625 | 0.040 |
Why?
|
| Musculoskeletal Abnormalities | 1 | 2018 | 82 | 0.040 |
Why?
|
| Membrane Potential, Mitochondrial | 1 | 2017 | 133 | 0.040 |
Why?
|
| Sequence Homology, Amino Acid | 1 | 2019 | 997 | 0.040 |
Why?
|
| Molecular Diagnostic Techniques | 1 | 2019 | 332 | 0.040 |
Why?
|
| Edetic Acid | 1 | 2017 | 73 | 0.040 |
Why?
|
| Oxidoreductases | 1 | 2017 | 171 | 0.040 |
Why?
|
| Hydrogen Peroxide | 1 | 2017 | 217 | 0.040 |
Why?
|
| Urinary Bladder | 1 | 2019 | 575 | 0.040 |
Why?
|
| Choanal Atresia | 1 | 2016 | 16 | 0.030 |
Why?
|
| Mutagenesis | 1 | 2017 | 483 | 0.030 |
Why?
|
| Fetal Growth Retardation | 1 | 2017 | 194 | 0.030 |
Why?
|
| X Chromosome Inactivation | 1 | 2016 | 73 | 0.030 |
Why?
|
| Genes, X-Linked | 1 | 2016 | 66 | 0.030 |
Why?
|
| Growth Disorders | 1 | 2017 | 218 | 0.030 |
Why?
|
| DNA, Mitochondrial | 1 | 2017 | 311 | 0.030 |
Why?
|
| Colon | 1 | 2019 | 670 | 0.030 |
Why?
|
| Dopamine | 1 | 2017 | 312 | 0.030 |
Why?
|
| Inpatients | 1 | 2021 | 678 | 0.030 |
Why?
|
| Adenosine Triphosphate | 1 | 2017 | 571 | 0.030 |
Why?
|
| Drug Combinations | 1 | 2017 | 621 | 0.030 |
Why?
|
| Metabolic Networks and Pathways | 1 | 2017 | 336 | 0.030 |
Why?
|
| Amino Acids | 1 | 2018 | 728 | 0.030 |
Why?
|
| Iron | 1 | 2017 | 376 | 0.030 |
Why?
|
| Germ-Line Mutation | 1 | 2019 | 1046 | 0.030 |
Why?
|
| Cohort Studies | 2 | 2017 | 9244 | 0.030 |
Why?
|
| DNA Mutational Analysis | 1 | 2019 | 2283 | 0.030 |
Why?
|
| NAV1.4 Voltage-Gated Sodium Channel | 1 | 2012 | 5 | 0.030 |
Why?
|
| Recombination, Genetic | 1 | 2015 | 613 | 0.030 |
Why?
|
| Signal Transduction | 2 | 2022 | 11965 | 0.030 |
Why?
|
| Caenorhabditis elegans | 1 | 2014 | 268 | 0.030 |
Why?
|
| Calcium Channels, L-Type | 1 | 2012 | 76 | 0.030 |
Why?
|
| Critical Care | 1 | 2017 | 770 | 0.030 |
Why?
|
| Alleles | 1 | 2017 | 2437 | 0.030 |
Why?
|
| Models, Genetic | 1 | 2015 | 1113 | 0.020 |
Why?
|
| Calcium Channels | 1 | 2012 | 197 | 0.020 |
Why?
|
| Oxidative Stress | 1 | 2017 | 1129 | 0.020 |
Why?
|
| Chromosome Mapping | 1 | 2014 | 1471 | 0.020 |
Why?
|
| Length of Stay | 1 | 2017 | 1900 | 0.020 |
Why?
|
| Fibroblasts | 1 | 2017 | 1682 | 0.020 |
Why?
|
| DNA Copy Number Variations | 1 | 2017 | 1516 | 0.020 |
Why?
|
| Severity of Illness Index | 1 | 2020 | 4320 | 0.020 |
Why?
|
| Trans-Activators | 1 | 2015 | 1555 | 0.020 |
Why?
|
| Algorithms | 1 | 2020 | 3890 | 0.020 |
Why?
|
| Brain | 1 | 2022 | 4113 | 0.020 |
Why?
|
| Exons | 1 | 2012 | 1328 | 0.020 |
Why?
|
| Retrospective Studies | 2 | 2021 | 37905 | 0.020 |
Why?
|
| Genome, Human | 1 | 2015 | 1869 | 0.020 |
Why?
|
| Texas | 1 | 2017 | 6311 | 0.020 |
Why?
|
| Reproduction | 1 | 2008 | 253 | 0.020 |
Why?
|
| United States | 1 | 2021 | 15433 | 0.010 |
Why?
|
| Animals | 2 | 2017 | 59536 | 0.010 |
Why?
|
| Follow-Up Studies | 1 | 2015 | 14889 | 0.010 |
Why?
|
| Mice | 1 | 2017 | 34495 | 0.010 |
Why?
|