Concepts (126)
Concepts are derived automatically from a person's publications.
Concepts are listed by decreasing relevance which is based on many factors, including how many publications the person wrote about that topic, how long ago those publications were written, and how many publications other people have written on that same topic.
| Name |
Number of Publications
|
Most Recent Publication
|
Publications by All Authors
|
Concept Score
|
Why?
|
|---|
| Cleft Lip | 3 | 2023 | 24 | 1.410 |
Why?
|
| Cleft Palate | 3 | 2023 | 40 | 1.380 |
Why?
|
| Holoprosencephaly | 1 | 2023 | 2 | 0.830 |
Why?
|
| Genetic Predisposition to Disease | 6 | 2021 | 727 | 0.720 |
Why?
|
| Mucopolysaccharidosis I | 1 | 2021 | 7 | 0.700 |
Why?
|
| Intellectual Disability | 4 | 2023 | 172 | 0.600 |
Why?
|
| Glycogen Storage Disease Type II | 2 | 2019 | 8 | 0.510 |
Why?
|
| alpha-Glucosidases | 2 | 2019 | 10 | 0.500 |
Why?
|
| Phenotype | 5 | 2021 | 1222 | 0.490 |
Why?
|
| Genetic Association Studies | 5 | 2021 | 120 | 0.390 |
Why?
|
| Neurodevelopmental Disorders | 2 | 2021 | 41 | 0.330 |
Why?
|
| Abnormalities, Multiple | 3 | 2021 | 54 | 0.310 |
Why?
|
| Mutation | 4 | 2021 | 2629 | 0.300 |
Why?
|
| Prenatal Diagnosis | 2 | 2023 | 40 | 0.290 |
Why?
|
| Infant, Newborn | 6 | 2021 | 1375 | 0.270 |
Why?
|
| Von Hippel-Lindau Tumor Suppressor Protein | 1 | 2006 | 8 | 0.250 |
Why?
|
| von Hippel-Lindau Disease | 1 | 2006 | 4 | 0.250 |
Why?
|
| Genotype | 4 | 2021 | 668 | 0.240 |
Why?
|
| Germ-Line Mutation | 1 | 2006 | 45 | 0.240 |
Why?
|
| Pheochromocytoma | 1 | 2006 | 31 | 0.240 |
Why?
|
| Electron Transport Complex III | 2 | 2021 | 5 | 0.240 |
Why?
|
| Adrenal Gland Neoplasms | 1 | 2006 | 47 | 0.240 |
Why?
|
| Gangliosidoses, GM2 | 1 | 2025 | 19 | 0.230 |
Why?
|
| Sandhoff Disease | 1 | 2025 | 36 | 0.230 |
Why?
|
| ATPases Associated with Diverse Cellular Activities | 2 | 2021 | 29 | 0.220 |
Why?
|
| Tay-Sachs Disease | 1 | 2025 | 46 | 0.220 |
Why?
|
| Infant | 8 | 2025 | 1664 | 0.220 |
Why?
|
| Hand Deformities, Congenital | 1 | 2023 | 4 | 0.210 |
Why?
|
| Amniocentesis | 1 | 2023 | 5 | 0.210 |
Why?
|
| Syndrome | 2 | 2021 | 180 | 0.200 |
Why?
|
| Fingers | 1 | 2023 | 48 | 0.200 |
Why?
|
| Child, Preschool | 7 | 2025 | 2019 | 0.200 |
Why?
|
| Humans | 20 | 2025 | 64252 | 0.190 |
Why?
|
| Genetic Variation | 2 | 2021 | 387 | 0.180 |
Why?
|
| CDX2 Transcription Factor | 1 | 2021 | 5 | 0.180 |
Why?
|
| Sacrococcygeal Region | 1 | 2021 | 8 | 0.180 |
Why?
|
| Muscle Spasticity | 1 | 2021 | 4 | 0.180 |
Why?
|
| Cerebral Palsy | 1 | 2021 | 19 | 0.180 |
Why?
|
| Child | 8 | 2025 | 4583 | 0.180 |
Why?
|
| Mitochondrial Diseases | 1 | 2021 | 22 | 0.180 |
Why?
|
| Glucose-6-Phosphate | 1 | 2021 | 2 | 0.180 |
Why?
|
| Pregnancy | 2 | 2023 | 2370 | 0.180 |
Why?
|
| Phosphotransferases | 1 | 2021 | 23 | 0.170 |
Why?
|
| Hypertrichosis | 1 | 2021 | 4 | 0.170 |
Why?
|
| Myeloid-Lymphoid Leukemia Protein | 1 | 2021 | 6 | 0.170 |
Why?
|
| Microcephaly | 1 | 2021 | 14 | 0.170 |
Why?
|
| Histone-Lysine N-Methyltransferase | 1 | 2021 | 32 | 0.170 |
Why?
|
| Female | 14 | 2025 | 33360 | 0.170 |
Why?
|
| Growth Disorders | 1 | 2021 | 29 | 0.170 |
Why?
|
| Rare Diseases | 1 | 2021 | 44 | 0.170 |
Why?
|
| Spasms, Infantile | 1 | 2020 | 2 | 0.170 |
Why?
|
| N-Acetylglucosaminyltransferases | 1 | 2020 | 8 | 0.170 |
Why?
|
| Congenital Disorders of Glycosylation | 1 | 2020 | 7 | 0.170 |
Why?
|
| Hearing Loss | 1 | 2021 | 64 | 0.160 |
Why?
|
| Mutation, Missense | 2 | 2015 | 185 | 0.160 |
Why?
|
| Epilepsy | 1 | 2021 | 110 | 0.160 |
Why?
|
| Leukemoid Reaction | 1 | 2020 | 4 | 0.160 |
Why?
|
| Twins, Monozygotic | 1 | 2020 | 71 | 0.160 |
Why?
|
| Diseases in Twins | 1 | 2020 | 55 | 0.160 |
Why?
|
| Young Adult | 4 | 2023 | 4780 | 0.150 |
Why?
|
| Alleles | 4 | 2021 | 448 | 0.150 |
Why?
|
| Down Syndrome | 1 | 2020 | 46 | 0.150 |
Why?
|
| Hypokalemia | 1 | 2019 | 13 | 0.150 |
Why?
|
| Genetic Vectors | 1 | 2025 | 889 | 0.150 |
Why?
|
| Dependovirus | 1 | 2025 | 721 | 0.150 |
Why?
|
| Genetic Therapy | 1 | 2025 | 802 | 0.140 |
Why?
|
| Matrix Attachment Region Binding Proteins | 1 | 2018 | 3 | 0.140 |
Why?
|
| Gene Rearrangement | 1 | 2016 | 41 | 0.130 |
Why?
|
| Congenital Abnormalities | 1 | 2016 | 25 | 0.130 |
Why?
|
| Adolescent | 6 | 2025 | 6304 | 0.130 |
Why?
|
| Adult | 6 | 2023 | 17121 | 0.130 |
Why?
|
| Genetic Markers | 1 | 2016 | 130 | 0.120 |
Why?
|
| Chromosome Aberrations | 1 | 2016 | 67 | 0.120 |
Why?
|
| Noonan Syndrome | 1 | 2015 | 2 | 0.120 |
Why?
|
| Neurofibromin 1 | 1 | 2015 | 14 | 0.120 |
Why?
|
| Codon | 1 | 2015 | 57 | 0.110 |
Why?
|
| Amino Acid Substitution | 1 | 2015 | 239 | 0.110 |
Why?
|
| Genome-Wide Association Study | 1 | 2016 | 361 | 0.110 |
Why?
|
| Bottle Feeding | 1 | 2014 | 5 | 0.110 |
Why?
|
| Ultrasonography, Prenatal | 1 | 2014 | 45 | 0.100 |
Why?
|
| Male | 11 | 2025 | 30305 | 0.100 |
Why?
|
| Hypertension | 1 | 2019 | 593 | 0.100 |
Why?
|
| Pedigree | 2 | 2021 | 195 | 0.100 |
Why?
|
| Fatal Outcome | 2 | 2011 | 125 | 0.100 |
Why?
|
| Enzyme Replacement Therapy | 1 | 2011 | 12 | 0.090 |
Why?
|
| Serologic Tests | 1 | 2011 | 37 | 0.090 |
Why?
|
| Cross Reactions | 1 | 2011 | 134 | 0.090 |
Why?
|
| Patient Care Team | 1 | 2014 | 340 | 0.090 |
Why?
|
| Diagnosis, Differential | 1 | 2014 | 984 | 0.090 |
Why?
|
| Treatment Failure | 1 | 2011 | 200 | 0.080 |
Why?
|
| Glycosylation | 2 | 2021 | 138 | 0.080 |
Why?
|
| Transcription Factors | 1 | 2018 | 1540 | 0.080 |
Why?
|
| Recombinant Proteins | 1 | 2011 | 704 | 0.080 |
Why?
|
| beta-Hexosaminidase alpha Chain | 1 | 2025 | 14 | 0.060 |
Why?
|
| DNA Mutational Analysis | 1 | 2006 | 197 | 0.060 |
Why?
|
| Risk Factors | 1 | 2014 | 5339 | 0.050 |
Why?
|
| Intestines | 1 | 2005 | 169 | 0.050 |
Why?
|
| Liver Transplantation | 1 | 2005 | 217 | 0.050 |
Why?
|
| Failure to Thrive | 1 | 2021 | 8 | 0.040 |
Why?
|
| Age of Onset | 1 | 2021 | 175 | 0.040 |
Why?
|
| Eukaryotic Initiation Factor-3 | 1 | 2021 | 4 | 0.040 |
Why?
|
| Constipation | 1 | 2021 | 15 | 0.040 |
Why?
|
| Loss of Function Mutation | 1 | 2021 | 23 | 0.040 |
Why?
|
| Diet, Ketogenic | 1 | 2020 | 2 | 0.040 |
Why?
|
| Genetic Testing | 1 | 2021 | 140 | 0.040 |
Why?
|
| Transferrin | 1 | 2020 | 70 | 0.040 |
Why?
|
| Mineralocorticoids | 1 | 2019 | 2 | 0.040 |
Why?
|
| 11-beta-Hydroxysteroid Dehydrogenase Type 2 | 1 | 2019 | 2 | 0.040 |
Why?
|
| Retrospective Studies | 2 | 2021 | 6732 | 0.040 |
Why?
|
| Genetic Loci | 1 | 2019 | 116 | 0.040 |
Why?
|
| Databases, Genetic | 1 | 2019 | 90 | 0.040 |
Why?
|
| Facies | 1 | 2018 | 9 | 0.040 |
Why?
|
| Global Health | 1 | 2019 | 183 | 0.030 |
Why?
|
| Inheritance Patterns | 1 | 2018 | 19 | 0.030 |
Why?
|
| Rats | 1 | 2021 | 2005 | 0.030 |
Why?
|
| Hydrocortisone | 1 | 2019 | 193 | 0.030 |
Why?
|
| Dwarfism | 1 | 2015 | 15 | 0.030 |
Why?
|
| Prognosis | 1 | 2020 | 1769 | 0.030 |
Why?
|
| Registries | 1 | 2019 | 885 | 0.030 |
Why?
|
| Polymorphism, Single Nucleotide | 1 | 2018 | 497 | 0.030 |
Why?
|
| Biomarkers | 1 | 2020 | 1431 | 0.030 |
Why?
|
| Middle Aged | 2 | 2015 | 17906 | 0.030 |
Why?
|
| Cohort Studies | 1 | 2015 | 2604 | 0.020 |
Why?
|
| Multiple Organ Failure | 1 | 2005 | 45 | 0.010 |
Why?
|
| Tissue Donors | 1 | 2005 | 154 | 0.010 |
Why?
|
| Animals | 1 | 2021 | 20961 | 0.010 |
Why?
|