| Name |
Number of Publications
|
Most Recent Publication
|
Publications by All Authors
|
Concept Score
|
Why?
|
|---|
| Genetic Testing | 7 | 2024 | 990 | 0.970 |
Why?
|
| Learning | 1 | 2023 | 357 | 0.690 |
Why?
|
| Craniofacial Abnormalities | 2 | 2017 | 243 | 0.620 |
Why?
|
| Chromosomes, Human, Pair 17 | 3 | 2015 | 370 | 0.610 |
Why?
|
| Primary Myelofibrosis | 1 | 2018 | 50 | 0.600 |
Why?
|
| Phenotype | 12 | 2022 | 4207 | 0.590 |
Why?
|
| Myopathies, Nemaline | 1 | 2017 | 8 | 0.580 |
Why?
|
| Vesicular Transport Proteins | 1 | 2018 | 117 | 0.570 |
Why?
|
| Chromosome Duplication | 2 | 2015 | 147 | 0.550 |
Why?
|
| Genetic Counseling | 7 | 2021 | 221 | 0.540 |
Why?
|
| Abnormalities, Multiple | 7 | 2021 | 974 | 0.520 |
Why?
|
| Developmental Disabilities | 3 | 2018 | 692 | 0.480 |
Why?
|
| Genetic Diseases, Inborn | 6 | 2024 | 440 | 0.460 |
Why?
|
| Ectodermal Dysplasia | 3 | 2023 | 43 | 0.440 |
Why?
|
| Heart Defects, Congenital | 6 | 2023 | 1801 | 0.440 |
Why?
|
| Costello Syndrome | 2 | 2023 | 17 | 0.420 |
Why?
|
| Smith-Magenis Syndrome | 1 | 2013 | 105 | 0.420 |
Why?
|
| Noonan Syndrome | 2 | 2023 | 29 | 0.420 |
Why?
|
| Mononuclear Phagocyte System | 1 | 2012 | 10 | 0.400 |
Why?
|
| 1,4-alpha-Glucan Branching Enzyme | 1 | 2012 | 6 | 0.400 |
Why?
|
| Glycogen Storage Disease Type IV | 1 | 2012 | 7 | 0.400 |
Why?
|
| Carnitine | 1 | 2012 | 78 | 0.400 |
Why?
|
| Fanconi Anemia Complementation Group Proteins | 1 | 2011 | 10 | 0.400 |
Why?
|
| Fanconi Anemia | 1 | 2011 | 49 | 0.380 |
Why?
|
| Chromosome Aberrations | 2 | 2012 | 617 | 0.380 |
Why?
|
| Metabolism, Inborn Errors | 1 | 2012 | 104 | 0.380 |
Why?
|
| Mutation | 8 | 2019 | 5749 | 0.380 |
Why?
|
| Chromosomes, Human, Pair 15 | 1 | 2012 | 159 | 0.370 |
Why?
|
| Limb Deformities, Congenital | 1 | 2011 | 104 | 0.370 |
Why?
|
| Intellectual Disability | 4 | 2018 | 1042 | 0.340 |
Why?
|
| Counselors | 2 | 2021 | 22 | 0.330 |
Why?
|
| Infant | 16 | 2024 | 12289 | 0.310 |
Why?
|
| Haploinsufficiency | 3 | 2019 | 248 | 0.310 |
Why?
|
| Gene Deletion | 1 | 2011 | 799 | 0.310 |
Why?
|
| Facies | 4 | 2017 | 155 | 0.300 |
Why?
|
| Pedigree | 5 | 2018 | 1575 | 0.280 |
Why?
|
| ras Proteins | 3 | 2023 | 136 | 0.260 |
Why?
|
| Humans | 37 | 2024 | 121743 | 0.240 |
Why?
|
| Chromosome Deletion | 3 | 2017 | 636 | 0.240 |
Why?
|
| Fatal Outcome | 2 | 2018 | 352 | 0.230 |
Why?
|
| Child, Preschool | 14 | 2024 | 13771 | 0.230 |
Why?
|
| Failure to Thrive | 2 | 2014 | 91 | 0.220 |
Why?
|
| Exome | 6 | 2021 | 1037 | 0.220 |
Why?
|
| Comparative Genomic Hybridization | 3 | 2015 | 576 | 0.210 |
Why?
|
| Writing | 1 | 2023 | 56 | 0.210 |
Why?
|
| Whole Genome Sequencing | 1 | 2024 | 280 | 0.210 |
Why?
|
| Chromosome Disorders | 2 | 2015 | 311 | 0.200 |
Why?
|
| Transcription Factors | 3 | 2019 | 2586 | 0.200 |
Why?
|
| Rare Diseases | 1 | 2024 | 185 | 0.200 |
Why?
|
| Epileptic Syndromes | 1 | 2022 | 30 | 0.200 |
Why?
|
| Micrognathism | 1 | 2021 | 65 | 0.190 |
Why?
|
| Actins | 2 | 2021 | 340 | 0.190 |
Why?
|
| Hand Deformities, Congenital | 1 | 2021 | 89 | 0.180 |
Why?
|
| Transition to Adult Care | 1 | 2023 | 118 | 0.180 |
Why?
|
| Male | 20 | 2024 | 59138 | 0.180 |
Why?
|
| Child | 14 | 2024 | 24035 | 0.180 |
Why?
|
| Genes, Developmental | 1 | 2020 | 3 | 0.180 |
Why?
|
| Spasms, Infantile | 1 | 2022 | 167 | 0.180 |
Why?
|
| Infant, Newborn | 8 | 2021 | 8088 | 0.170 |
Why?
|
| Genetic Carrier Screening | 1 | 2020 | 76 | 0.170 |
Why?
|
| Intestinal Pseudo-Obstruction | 1 | 2019 | 27 | 0.170 |
Why?
|
| Mitogen-Activated Protein Kinase Kinases | 1 | 2019 | 83 | 0.170 |
Why?
|
| Syndrome | 3 | 2018 | 1117 | 0.170 |
Why?
|
| Female | 21 | 2024 | 64492 | 0.160 |
Why?
|
| Tumor Necrosis Factor Receptor-Associated Peptides and Proteins | 1 | 2018 | 13 | 0.160 |
Why?
|
| Gonadal Dysgenesis, 46,XY | 1 | 2018 | 17 | 0.160 |
Why?
|
| Amino Acid Substitution | 1 | 2019 | 389 | 0.160 |
Why?
|
| Sulfite Reductase (Ferredoxin) | 1 | 2017 | 2 | 0.150 |
Why?
|
| Ferredoxins | 1 | 2017 | 4 | 0.150 |
Why?
|
| Consanguinity | 1 | 2018 | 106 | 0.150 |
Why?
|
| Hypertrichosis | 1 | 2017 | 5 | 0.150 |
Why?
|
| Antiporters | 1 | 2017 | 32 | 0.150 |
Why?
|
| Arginine | 1 | 2019 | 303 | 0.150 |
Why?
|
| Heterogeneous-Nuclear Ribonucleoprotein U | 1 | 2017 | 6 | 0.150 |
Why?
|
| Carbidopa | 1 | 2017 | 18 | 0.150 |
Why?
|
| Congenital Abnormalities | 1 | 2020 | 242 | 0.150 |
Why?
|
| Aromatic-L-Amino-Acid Decarboxylases | 1 | 2017 | 17 | 0.150 |
Why?
|
| Optic Atrophy | 1 | 2017 | 47 | 0.140 |
Why?
|
| Levodopa | 1 | 2017 | 89 | 0.140 |
Why?
|
| Dopamine Agonists | 1 | 2017 | 79 | 0.140 |
Why?
|
| Amino Acid Metabolism, Inborn Errors | 1 | 2017 | 101 | 0.130 |
Why?
|
| Parents | 1 | 2023 | 1014 | 0.130 |
Why?
|
| Calcium-Binding Proteins | 1 | 2017 | 324 | 0.130 |
Why?
|
| Mitochondrial Proteins | 1 | 2017 | 240 | 0.130 |
Why?
|
| Genetic Association Studies | 1 | 2019 | 756 | 0.130 |
Why?
|
| Mitochondria | 2 | 2017 | 666 | 0.130 |
Why?
|
| Ubiquitin Thiolesterase | 1 | 2016 | 53 | 0.130 |
Why?
|
| Ductus Arteriosus, Patent | 1 | 2017 | 142 | 0.130 |
Why?
|
| Language Development Disorders | 1 | 2017 | 173 | 0.130 |
Why?
|
| Sequence Analysis, DNA | 2 | 2019 | 1758 | 0.130 |
Why?
|
| Myelin Proteins | 1 | 2015 | 76 | 0.130 |
Why?
|
| Craniosynostoses | 1 | 2017 | 131 | 0.130 |
Why?
|
| Bone Marrow Transplantation | 1 | 2018 | 577 | 0.130 |
Why?
|
| Precision Medicine | 1 | 2018 | 307 | 0.120 |
Why?
|
| Genetic Predisposition to Disease | 3 | 2020 | 3066 | 0.120 |
Why?
|
| Disease Management | 2 | 2017 | 511 | 0.120 |
Why?
|
| Adult | 9 | 2024 | 28623 | 0.120 |
Why?
|
| Ubiquitin-Protein Ligases | 1 | 2017 | 347 | 0.120 |
Why?
|
| Charcot-Marie-Tooth Disease | 1 | 2015 | 199 | 0.120 |
Why?
|
| Chromosomes, Human, Pair 5 | 1 | 2014 | 112 | 0.120 |
Why?
|
| Metabolomics | 1 | 2017 | 389 | 0.110 |
Why?
|
| Gene Duplication | 1 | 2015 | 358 | 0.110 |
Why?
|
| Mutation, Missense | 1 | 2018 | 834 | 0.110 |
Why?
|
| Gene Rearrangement | 1 | 2015 | 316 | 0.110 |
Why?
|
| Intensive Care Units, Pediatric | 1 | 2017 | 468 | 0.110 |
Why?
|
| Muscle Hypotonia | 1 | 2014 | 186 | 0.110 |
Why?
|
| Membrane Proteins | 2 | 2019 | 1524 | 0.110 |
Why?
|
| MAP Kinase Kinase 2 | 1 | 2013 | 8 | 0.110 |
Why?
|
| Chromosomes, Human, Pair 19 | 1 | 2013 | 59 | 0.110 |
Why?
|
| Neurodevelopmental Disorders | 1 | 2017 | 458 | 0.100 |
Why?
|
| Practice Guidelines as Topic | 2 | 2020 | 1240 | 0.100 |
Why?
|
| Receptors, Glycine | 1 | 2011 | 16 | 0.100 |
Why?
|
| Muscle Weakness | 1 | 2012 | 82 | 0.100 |
Why?
|
| Autism Spectrum Disorder | 1 | 2017 | 373 | 0.100 |
Why?
|
| Carrier Proteins | 1 | 2017 | 1022 | 0.100 |
Why?
|
| Anal Canal | 1 | 2011 | 79 | 0.100 |
Why?
|
| Chromosome Breakage | 1 | 2011 | 168 | 0.090 |
Why?
|
| Neoplasms | 2 | 2023 | 2748 | 0.090 |
Why?
|
| DNA-Binding Proteins | 2 | 2021 | 2036 | 0.090 |
Why?
|
| Spine | 1 | 2011 | 148 | 0.090 |
Why?
|
| Diagnosis, Differential | 2 | 2014 | 1872 | 0.090 |
Why?
|
| Young Adult | 4 | 2020 | 8712 | 0.090 |
Why?
|
| Prenatal Diagnosis | 2 | 2020 | 580 | 0.090 |
Why?
|
| Trachea | 1 | 2011 | 193 | 0.090 |
Why?
|
| Esophagus | 1 | 2011 | 207 | 0.090 |
Why?
|
| Hematopoietic Stem Cell Transplantation | 1 | 2018 | 1168 | 0.080 |
Why?
|
| Signal Transduction | 3 | 2022 | 4504 | 0.080 |
Why?
|
| MAP Kinase Signaling System | 2 | 2023 | 317 | 0.080 |
Why?
|
| Seizures | 1 | 2014 | 874 | 0.080 |
Why?
|
| Adolescent | 7 | 2024 | 18879 | 0.080 |
Why?
|
| Chromosomes, Human, Pair 22 | 1 | 2008 | 102 | 0.080 |
Why?
|
| Cardiovascular Abnormalities | 1 | 2008 | 51 | 0.080 |
Why?
|
| Nucleic Acid Hybridization | 1 | 2008 | 397 | 0.070 |
Why?
|
| High-Throughput Nucleotide Sequencing | 1 | 2012 | 864 | 0.070 |
Why?
|
| Prognosis | 2 | 2015 | 4477 | 0.070 |
Why?
|
| Down Syndrome | 1 | 2008 | 194 | 0.060 |
Why?
|
| Base Sequence | 3 | 2016 | 3114 | 0.060 |
Why?
|
| Genomics | 2 | 2015 | 1473 | 0.060 |
Why?
|
| Kidney | 1 | 2011 | 1323 | 0.060 |
Why?
|
| Oligonucleotide Array Sequence Analysis | 1 | 2008 | 999 | 0.060 |
Why?
|
| Amino Acid Sequence | 2 | 2019 | 2677 | 0.050 |
Why?
|
| Cohort Studies | 3 | 2017 | 4635 | 0.050 |
Why?
|
| Surveys and Questionnaires | 2 | 2023 | 3619 | 0.050 |
Why?
|
| Mitogen-Activated Protein Kinases | 1 | 2022 | 207 | 0.050 |
Why?
|
| DNA Copy Number Variations | 2 | 2017 | 943 | 0.050 |
Why?
|
| Pregnancy | 3 | 2021 | 7071 | 0.050 |
Why?
|
| Genotype | 2 | 2019 | 2533 | 0.040 |
Why?
|
| Chromosomal Proteins, Non-Histone | 1 | 2021 | 214 | 0.040 |
Why?
|
| Molecular Sequence Data | 2 | 2016 | 3870 | 0.040 |
Why?
|
| Molecular Diagnostic Techniques | 1 | 2019 | 146 | 0.040 |
Why?
|
| Urinary Bladder | 1 | 2019 | 242 | 0.040 |
Why?
|
| Health Personnel | 1 | 2023 | 500 | 0.040 |
Why?
|
| Iron-Sulfur Proteins | 1 | 2017 | 5 | 0.040 |
Why?
|
| Sequence Homology, Amino Acid | 1 | 2019 | 654 | 0.040 |
Why?
|
| Cutis Laxa | 1 | 2017 | 9 | 0.040 |
Why?
|
| Progeria | 1 | 2017 | 16 | 0.040 |
Why?
|
| Electron Transport | 1 | 2017 | 54 | 0.040 |
Why?
|
| Infant Care | 1 | 2017 | 46 | 0.040 |
Why?
|
| Mitochondrial Membranes | 1 | 2017 | 31 | 0.040 |
Why?
|
| Membrane Potential, Mitochondrial | 1 | 2017 | 49 | 0.040 |
Why?
|
| Germ-Line Mutation | 1 | 2019 | 312 | 0.040 |
Why?
|
| Vanilmandelic Acid | 1 | 2017 | 8 | 0.040 |
Why?
|
| Edetic Acid | 1 | 2017 | 23 | 0.040 |
Why?
|
| Musculoskeletal Abnormalities | 1 | 2018 | 73 | 0.040 |
Why?
|
| DNA Mutational Analysis | 1 | 2019 | 791 | 0.040 |
Why?
|
| Oxidoreductases | 1 | 2017 | 92 | 0.040 |
Why?
|
| Hydrogen Peroxide | 1 | 2017 | 111 | 0.040 |
Why?
|
| Colon | 1 | 2019 | 347 | 0.040 |
Why?
|
| Inpatients | 1 | 2021 | 487 | 0.040 |
Why?
|
| Adenosine Triphosphate | 1 | 2017 | 288 | 0.030 |
Why?
|
| Mutagenesis | 1 | 2017 | 352 | 0.030 |
Why?
|
| Drug Combinations | 1 | 2017 | 263 | 0.030 |
Why?
|
| DNA, Mitochondrial | 1 | 2017 | 209 | 0.030 |
Why?
|
| Metabolic Networks and Pathways | 1 | 2017 | 184 | 0.030 |
Why?
|
| Choanal Atresia | 1 | 2016 | 18 | 0.030 |
Why?
|
| X Chromosome Inactivation | 1 | 2016 | 63 | 0.030 |
Why?
|
| Growth Disorders | 1 | 2017 | 209 | 0.030 |
Why?
|
| Genes, X-Linked | 1 | 2016 | 59 | 0.030 |
Why?
|
| Dopamine | 1 | 2017 | 272 | 0.030 |
Why?
|
| Fetal Growth Retardation | 1 | 2017 | 216 | 0.030 |
Why?
|
| Amino Acids | 1 | 2018 | 661 | 0.030 |
Why?
|
| Iron | 1 | 2017 | 263 | 0.030 |
Why?
|
| Recombination, Genetic | 1 | 2015 | 447 | 0.030 |
Why?
|
| Oncogene Protein p21(ras) | 1 | 2013 | 10 | 0.030 |
Why?
|
| Algorithms | 1 | 2020 | 1573 | 0.030 |
Why?
|
| Fibroblasts | 1 | 2017 | 874 | 0.030 |
Why?
|
| Alleles | 1 | 2017 | 1594 | 0.030 |
Why?
|
| Caenorhabditis elegans | 1 | 2014 | 221 | 0.030 |
Why?
|
| NAV1.4 Voltage-Gated Sodium Channel | 1 | 2012 | 4 | 0.030 |
Why?
|
| Models, Genetic | 1 | 2015 | 747 | 0.030 |
Why?
|
| Calcium Channels, L-Type | 1 | 2012 | 53 | 0.030 |
Why?
|
| Oxidative Stress | 1 | 2017 | 787 | 0.030 |
Why?
|
| Length of Stay | 1 | 2017 | 1250 | 0.020 |
Why?
|
| Critical Care | 1 | 2017 | 643 | 0.020 |
Why?
|
| Retrospective Studies | 2 | 2021 | 15601 | 0.020 |
Why?
|
| Severity of Illness Index | 1 | 2020 | 2794 | 0.020 |
Why?
|
| Chromosome Mapping | 1 | 2014 | 1068 | 0.020 |
Why?
|
| Calcium Channels | 1 | 2012 | 160 | 0.020 |
Why?
|
| Trans-Activators | 1 | 2015 | 802 | 0.020 |
Why?
|
| Phosphoproteins | 1 | 2013 | 401 | 0.020 |
Why?
|
| Sequence Deletion | 1 | 2013 | 526 | 0.020 |
Why?
|
| Blotting, Western | 1 | 2013 | 1102 | 0.020 |
Why?
|
| Brain | 1 | 2022 | 2944 | 0.020 |
Why?
|
| Exons | 1 | 2012 | 794 | 0.020 |
Why?
|
| Texas | 1 | 2017 | 3521 | 0.020 |
Why?
|
| Genome, Human | 1 | 2015 | 1251 | 0.020 |
Why?
|
| Follow-Up Studies | 1 | 2015 | 4987 | 0.020 |
Why?
|
| Reproduction | 1 | 2008 | 238 | 0.020 |
Why?
|
| United States | 1 | 2021 | 10415 | 0.020 |
Why?
|
| Animals | 2 | 2017 | 33670 | 0.020 |
Why?
|
| Mice | 1 | 2017 | 17494 | 0.010 |
Why?
|