| Name |
Number of Publications
|
Most Recent Publication
|
Publications by All Authors
|
Concept Score
|
Why?
|
|---|
| Neonatal Screening | 15 | 2024 | 98 | 2.590 |
Why?
|
| Homocystinuria | 2 | 2023 | 5 | 1.150 |
Why?
|
| Metabolism, Inborn Errors | 5 | 2022 | 20 | 0.790 |
Why?
|
| Infant, Newborn | 18 | 2024 | 1362 | 0.750 |
Why?
|
| Tandem Mass Spectrometry | 4 | 2013 | 147 | 0.520 |
Why?
|
| Congenital Hypothyroidism | 2 | 2014 | 13 | 0.510 |
Why?
|
| Adrenal Hyperplasia, Congenital | 2 | 2014 | 5 | 0.500 |
Why?
|
| Neurodevelopmental Disorders | 3 | 2023 | 41 | 0.490 |
Why?
|
| Hyperhomocysteinemia | 1 | 2014 | 6 | 0.450 |
Why?
|
| Methylenetetrahydrofolate Reductase (NADPH2) | 1 | 2014 | 8 | 0.440 |
Why?
|
| Microcephaly | 1 | 2014 | 14 | 0.440 |
Why?
|
| Growth Hormone | 1 | 2014 | 18 | 0.430 |
Why?
|
| Liver Failure, Acute | 2 | 2011 | 24 | 0.420 |
Why?
|
| Thyroxine | 1 | 2014 | 54 | 0.420 |
Why?
|
| Genetic Diseases, Inborn | 2 | 2010 | 38 | 0.410 |
Why?
|
| Venous Thrombosis | 1 | 2014 | 112 | 0.410 |
Why?
|
| Acyl-CoA Dehydrogenase, Long-Chain | 1 | 2010 | 9 | 0.340 |
Why?
|
| Health Plan Implementation | 1 | 2010 | 40 | 0.330 |
Why?
|
| Leukoencephalopathies | 1 | 2010 | 25 | 0.330 |
Why?
|
| Cutis Laxa | 2 | 2023 | 7 | 0.330 |
Why?
|
| Hyperammonemia | 2 | 2020 | 4 | 0.290 |
Why?
|
| Quality Assurance, Health Care | 1 | 2010 | 254 | 0.290 |
Why?
|
| Infant | 9 | 2025 | 1654 | 0.290 |
Why?
|
| Humans | 32 | 2025 | 63518 | 0.260 |
Why?
|
| Severe Combined Immunodeficiency | 2 | 2021 | 54 | 0.250 |
Why?
|
| Mutation, Missense | 2 | 2018 | 185 | 0.250 |
Why?
|
| Brain | 1 | 2014 | 1556 | 0.240 |
Why?
|
| Leukodystrophy, Globoid Cell | 1 | 2005 | 4 | 0.240 |
Why?
|
| Homozygote | 3 | 2024 | 124 | 0.230 |
Why?
|
| Mitochondrial Diseases | 1 | 2025 | 22 | 0.230 |
Why?
|
| Iduronidase | 1 | 2024 | 5 | 0.230 |
Why?
|
| Mucopolysaccharidosis I | 1 | 2024 | 7 | 0.220 |
Why?
|
| Hearing Loss | 1 | 2025 | 62 | 0.220 |
Why?
|
| Male | 18 | 2025 | 29928 | 0.210 |
Why?
|
| Adrenoleukodystrophy | 1 | 2023 | 8 | 0.210 |
Why?
|
| Adrenal Insufficiency | 1 | 2023 | 10 | 0.210 |
Why?
|
| Spinal Diseases | 1 | 2023 | 49 | 0.200 |
Why?
|
| Mutation | 5 | 2023 | 2615 | 0.200 |
Why?
|
| Child | 8 | 2025 | 4541 | 0.200 |
Why?
|
| Joint Instability | 1 | 2023 | 53 | 0.200 |
Why?
|
| Multiple Sclerosis | 1 | 2005 | 219 | 0.190 |
Why?
|
| Epilepsy | 1 | 2023 | 111 | 0.190 |
Why?
|
| Child, Preschool | 7 | 2025 | 1999 | 0.180 |
Why?
|
| Genetic Predisposition to Disease | 1 | 2005 | 719 | 0.180 |
Why?
|
| Hearing Loss, Sensorineural | 1 | 2022 | 48 | 0.180 |
Why?
|
| Mass Spectrometry | 1 | 2023 | 301 | 0.180 |
Why?
|
| Phenotype | 6 | 2024 | 1207 | 0.170 |
Why?
|
| Lipid Metabolism, Inborn Errors | 2 | 2011 | 14 | 0.170 |
Why?
|
| Liver Diseases | 1 | 2022 | 155 | 0.170 |
Why?
|
| Urea Cycle Disorders, Inborn | 1 | 2020 | 2 | 0.170 |
Why?
|
| Metabolic Diseases | 2 | 2011 | 58 | 0.160 |
Why?
|
| Sensitivity and Specificity | 3 | 2014 | 1151 | 0.160 |
Why?
|
| Optic Atrophy | 1 | 2020 | 6 | 0.160 |
Why?
|
| Chorea | 1 | 2020 | 10 | 0.160 |
Why?
|
| Spastic Paraplegia, Hereditary | 1 | 2020 | 11 | 0.160 |
Why?
|
| Membrane Transport Proteins | 2 | 2011 | 135 | 0.160 |
Why?
|
| Female | 15 | 2025 | 32939 | 0.150 |
Why?
|
| Jumonji Domain-Containing Histone Demethylases | 1 | 2019 | 17 | 0.150 |
Why?
|
| Megalencephaly | 1 | 2018 | 5 | 0.150 |
Why?
|
| Mi-2 Nucleosome Remodeling and Deacetylase Complex | 1 | 2018 | 17 | 0.150 |
Why?
|
| Speech Disorders | 1 | 2018 | 17 | 0.150 |
Why?
|
| Language Disorders | 1 | 2018 | 25 | 0.150 |
Why?
|
| Diagnosis, Differential | 4 | 2014 | 981 | 0.140 |
Why?
|
| Protein Domains | 1 | 2018 | 149 | 0.140 |
Why?
|
| Retrospective Studies | 7 | 2025 | 6620 | 0.140 |
Why?
|
| Hematopoietic Stem Cell Transplantation | 1 | 2021 | 356 | 0.140 |
Why?
|
| Developmental Disabilities | 1 | 2018 | 116 | 0.130 |
Why?
|
| DNA Helicases | 1 | 2018 | 190 | 0.130 |
Why?
|
| Genetic Variation | 1 | 2019 | 384 | 0.130 |
Why?
|
| Intellectual Disability | 2 | 2018 | 168 | 0.130 |
Why?
|
| Pedigree | 3 | 2020 | 193 | 0.120 |
Why?
|
| Ornithine-Oxo-Acid Transaminase | 1 | 2015 | 1 | 0.120 |
Why?
|
| Corneal Opacity | 1 | 2015 | 4 | 0.120 |
Why?
|
| Brain Diseases | 1 | 2016 | 78 | 0.110 |
Why?
|
| Cyanosis | 1 | 2014 | 7 | 0.110 |
Why?
|
| Hematologic Tests | 1 | 2014 | 16 | 0.110 |
Why?
|
| Adolescent | 4 | 2025 | 6258 | 0.110 |
Why?
|
| Nerve Fibers, Myelinated | 1 | 2014 | 30 | 0.110 |
Why?
|
| 17-alpha-Hydroxyprogesterone | 1 | 2014 | 3 | 0.110 |
Why?
|
| Proteins | 1 | 2020 | 750 | 0.110 |
Why?
|
| Carcinoma, Hepatocellular | 1 | 2016 | 179 | 0.110 |
Why?
|
| Ectodermal Dysplasia | 1 | 2013 | 5 | 0.100 |
Why?
|
| Clinical Laboratory Techniques | 1 | 2014 | 45 | 0.100 |
Why?
|
| Craniosynostoses | 1 | 2013 | 11 | 0.100 |
Why?
|
| Heptanoates | 1 | 2013 | 3 | 0.100 |
Why?
|
| Liver Neoplasms | 1 | 2016 | 301 | 0.100 |
Why?
|
| Magnetic Resonance Imaging | 3 | 2014 | 2184 | 0.100 |
Why?
|
| Tyrosinemias | 1 | 2013 | 20 | 0.100 |
Why?
|
| Incidence | 2 | 2014 | 1374 | 0.100 |
Why?
|
| Bone and Bones | 1 | 2013 | 139 | 0.100 |
Why?
|
| Software | 2 | 2012 | 388 | 0.090 |
Why?
|
| Public Health Practice | 1 | 2010 | 16 | 0.090 |
Why?
|
| False Negative Reactions | 1 | 2010 | 41 | 0.090 |
Why?
|
| India | 1 | 2011 | 159 | 0.080 |
Why?
|
| Pilot Projects | 2 | 2011 | 1015 | 0.080 |
Why?
|
| Fusobacterium Infections | 1 | 2010 | 1 | 0.080 |
Why?
|
| Brain Abscess | 1 | 2010 | 7 | 0.080 |
Why?
|
| Death, Sudden | 1 | 2010 | 30 | 0.080 |
Why?
|
| Telangiectasia, Hereditary Hemorrhagic | 1 | 2010 | 20 | 0.080 |
Why?
|
| New England | 1 | 2010 | 269 | 0.080 |
Why?
|
| Fatty Liver | 1 | 2011 | 109 | 0.080 |
Why?
|
| Arteriovenous Malformations | 1 | 2010 | 44 | 0.080 |
Why?
|
| Genotype | 2 | 2024 | 662 | 0.080 |
Why?
|
| Gyrus Cinguli | 1 | 2010 | 57 | 0.080 |
Why?
|
| Streptococcal Infections | 1 | 2010 | 80 | 0.080 |
Why?
|
| Anemia, Megaloblastic | 1 | 2009 | 1 | 0.080 |
Why?
|
| Vitamin B Complex | 1 | 2009 | 15 | 0.080 |
Why?
|
| Thiamine | 1 | 2009 | 21 | 0.080 |
Why?
|
| Glucosephosphate Dehydrogenase Deficiency | 1 | 2009 | 3 | 0.080 |
Why?
|
| Hemoglobinopathies | 1 | 2009 | 7 | 0.080 |
Why?
|
| Amino Acid Metabolism, Inborn Errors | 1 | 2009 | 11 | 0.070 |
Why?
|
| Lysosomal Storage Diseases | 1 | 2009 | 14 | 0.070 |
Why?
|
| Blood Chemical Analysis | 1 | 2009 | 22 | 0.070 |
Why?
|
| Heterozygote | 1 | 2009 | 170 | 0.070 |
Why?
|
| Paper | 1 | 2009 | 13 | 0.070 |
Why?
|
| Hypothyroidism | 1 | 2009 | 42 | 0.070 |
Why?
|
| Follow-Up Studies | 2 | 2011 | 2464 | 0.070 |
Why?
|
| Evidence-Based Medicine | 1 | 2010 | 460 | 0.070 |
Why?
|
| Adult | 6 | 2025 | 16891 | 0.070 |
Why?
|
| Cystic Fibrosis | 1 | 2009 | 121 | 0.070 |
Why?
|
| Liver | 1 | 2011 | 860 | 0.060 |
Why?
|
| Infant, Newborn, Diseases | 1 | 2005 | 30 | 0.060 |
Why?
|
| Fatal Outcome | 1 | 2005 | 125 | 0.060 |
Why?
|
| Massachusetts | 3 | 2021 | 2074 | 0.060 |
Why?
|
| Severity of Illness Index | 2 | 2011 | 1553 | 0.060 |
Why?
|
| Genetic Association Studies | 1 | 2024 | 120 | 0.050 |
Why?
|
| Cohort Studies | 3 | 2019 | 2572 | 0.050 |
Why?
|
| Early Diagnosis | 1 | 2023 | 99 | 0.050 |
Why?
|
| Alleles | 1 | 2024 | 447 | 0.050 |
Why?
|
| Young Adult | 2 | 2025 | 4712 | 0.050 |
Why?
|
| Histiocytosis | 1 | 2022 | 4 | 0.050 |
Why?
|
| Carboxylic Ester Hydrolases | 1 | 2022 | 11 | 0.050 |
Why?
|
| Contracture | 1 | 2022 | 9 | 0.050 |
Why?
|
| Cervical Vertebrae | 1 | 2023 | 115 | 0.050 |
Why?
|
| Syndrome | 1 | 2022 | 180 | 0.050 |
Why?
|
| International Cooperation | 2 | 2012 | 90 | 0.040 |
Why?
|
| False Positive Reactions | 2 | 2012 | 78 | 0.040 |
Why?
|
| Ammonia | 1 | 2020 | 14 | 0.040 |
Why?
|
| Urea | 1 | 2020 | 37 | 0.040 |
Why?
|
| Age of Onset | 1 | 2020 | 174 | 0.040 |
Why?
|
| Glutarates | 1 | 2020 | 10 | 0.040 |
Why?
|
| Siblings | 1 | 2020 | 43 | 0.040 |
Why?
|
| Seizures | 1 | 2020 | 143 | 0.040 |
Why?
|
| Receptors, Antigen, T-Cell | 1 | 2021 | 287 | 0.040 |
Why?
|
| Infant, Premature | 1 | 2021 | 185 | 0.040 |
Why?
|
| Survival Analysis | 1 | 2020 | 584 | 0.040 |
Why?
|
| Cross-Sectional Studies | 1 | 2025 | 2584 | 0.040 |
Why?
|
| Whole Genome Sequencing | 1 | 2018 | 82 | 0.040 |
Why?
|
| Predictive Value of Tests | 2 | 2012 | 1092 | 0.030 |
Why?
|
| Tomography, X-Ray Computed | 1 | 2005 | 1641 | 0.030 |
Why?
|
| Adenosine Triphosphatases | 1 | 2018 | 255 | 0.030 |
Why?
|
| Chromatin Assembly and Disassembly | 1 | 2018 | 231 | 0.030 |
Why?
|
| HEK293 Cells | 1 | 2018 | 622 | 0.030 |
Why?
|
| Ornithine Carbamoyltransferase Deficiency Disease | 1 | 2016 | 2 | 0.030 |
Why?
|
| Organoplatinum Compounds | 1 | 2016 | 21 | 0.030 |
Why?
|
| Deoxycytidine | 1 | 2016 | 42 | 0.030 |
Why?
|
| Genes, Dominant | 1 | 2015 | 57 | 0.030 |
Why?
|
| Proline | 1 | 2015 | 44 | 0.030 |
Why?
|
| Gene Expression | 1 | 2018 | 840 | 0.030 |
Why?
|
| Prognosis | 1 | 2020 | 1744 | 0.030 |
Why?
|
| Species Specificity | 1 | 2015 | 334 | 0.030 |
Why?
|
| Sequence Alignment | 1 | 2015 | 299 | 0.030 |
Why?
|
| Models, Molecular | 1 | 2018 | 1151 | 0.030 |
Why?
|
| Sequence Analysis, DNA | 1 | 2015 | 417 | 0.030 |
Why?
|
| Comparative Genomic Hybridization | 1 | 2013 | 20 | 0.030 |
Why?
|
| Karyotyping | 1 | 2013 | 47 | 0.030 |
Why?
|
| DNA Mutational Analysis | 1 | 2013 | 197 | 0.020 |
Why?
|
| Base Sequence | 1 | 2015 | 1329 | 0.020 |
Why?
|
| Chromatography, Liquid | 1 | 2013 | 131 | 0.020 |
Why?
|
| Skin | 1 | 2015 | 374 | 0.020 |
Why?
|
| Amino Acid Sequence | 1 | 2015 | 1590 | 0.020 |
Why?
|
| Minnesota | 1 | 2012 | 41 | 0.020 |
Why?
|
| Molecular Sequence Data | 1 | 2015 | 1991 | 0.020 |
Why?
|
| Metabolome | 1 | 2012 | 31 | 0.020 |
Why?
|
| Pattern Recognition, Automated | 1 | 2012 | 53 | 0.020 |
Why?
|
| Carnitine | 1 | 2011 | 19 | 0.020 |
Why?
|
| Genes, Recessive | 1 | 2011 | 52 | 0.020 |
Why?
|
| Data Interpretation, Statistical | 1 | 2012 | 194 | 0.020 |
Why?
|
| Abdomen | 1 | 2011 | 92 | 0.020 |
Why?
|
| Diarrhea | 1 | 2011 | 76 | 0.020 |
Why?
|
| Up-Regulation | 1 | 2011 | 373 | 0.020 |
Why?
|
| Acyl-CoA Dehydrogenase | 1 | 2010 | 9 | 0.020 |
Why?
|
| Genes, T-Cell Receptor | 1 | 2010 | 7 | 0.020 |
Why?
|
| Blood Specimen Collection | 1 | 2010 | 20 | 0.020 |
Why?
|
| Fusobacterium nucleatum | 1 | 2010 | 4 | 0.020 |
Why?
|
| Streptococcus anginosus | 1 | 2010 | 2 | 0.020 |
Why?
|
| Epistaxis | 1 | 2010 | 5 | 0.020 |
Why?
|
| Reference Values | 1 | 2011 | 331 | 0.020 |
Why?
|
| Pulmonary Veins | 1 | 2010 | 37 | 0.020 |
Why?
|
| Muscle Weakness | 1 | 2010 | 33 | 0.020 |
Why?
|
| Amino Acids | 1 | 2011 | 147 | 0.020 |
Why?
|
| Computational Biology | 1 | 2012 | 354 | 0.020 |
Why?
|
| Multivariate Analysis | 1 | 2012 | 931 | 0.020 |
Why?
|
| Biopsy | 1 | 2011 | 446 | 0.020 |
Why?
|
| Pulmonary Artery | 1 | 2010 | 96 | 0.020 |
Why?
|
| Program Development | 1 | 2010 | 207 | 0.020 |
Why?
|
| Ultrasonography | 1 | 2011 | 483 | 0.020 |
Why?
|
| Deafness | 1 | 2009 | 41 | 0.020 |
Why?
|
| Databases, Factual | 1 | 2012 | 846 | 0.020 |
Why?
|
| Program Evaluation | 1 | 2010 | 487 | 0.020 |
Why?
|
| Quality Indicators, Health Care | 1 | 2010 | 333 | 0.020 |
Why?
|
| Practice Guidelines as Topic | 1 | 2010 | 721 | 0.020 |
Why?
|
| Reproducibility of Results | 1 | 2010 | 1665 | 0.010 |
Why?
|
| DNA | 1 | 2010 | 838 | 0.010 |
Why?
|
| Algorithms | 1 | 2010 | 1005 | 0.010 |
Why?
|
| Aged | 1 | 2020 | 14454 | 0.010 |
Why?
|
| Diabetes Mellitus | 1 | 2009 | 541 | 0.010 |
Why?
|
| Middle Aged | 1 | 2020 | 17654 | 0.010 |
Why?
|