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Mary-Alice Abbott

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
25
1.470
Why?
Cleft Palate
3
2023
42
1.440
Why?
Holoprosencephaly
1
2023
2
0.870
Why?
Genetic Predisposition to Disease
6
2021
716
0.750
Why?
Mucopolysaccharidosis I
1
2021
7
0.730
Why?
Intellectual Disability
4
2023
167
0.630
Why?
Glycogen Storage Disease Type II
2
2019
8
0.530
Why?
alpha-Glucosidases
2
2019
10
0.530
Why?
Phenotype
5
2021
1198
0.510
Why?
Genetic Association Studies
5
2021
121
0.410
Why?
Neurodevelopmental Disorders
2
2021
40
0.350
Why?
Abnormalities, Multiple
3
2021
54
0.330
Why?
Mutation
4
2021
2599
0.310
Why?
Prenatal Diagnosis
2
2023
39
0.300
Why?
Infant, Newborn
6
2021
1348
0.280
Why?
Von Hippel-Lindau Tumor Suppressor Protein
1
2006
7
0.260
Why?
von Hippel-Lindau Disease
1
2006
4
0.260
Why?
Germ-Line Mutation
1
2006
45
0.250
Why?
Genotype
4
2021
666
0.250
Why?
Pheochromocytoma
1
2006
26
0.250
Why?
Electron Transport Complex III
2
2021
5
0.250
Why?
Adrenal Gland Neoplasms
1
2006
43
0.250
Why?
Gangliosidoses, GM2
1
2025
18
0.240
Why?
Sandhoff Disease
1
2025
35
0.240
Why?
ATPases Associated with Diverse Cellular Activities
2
2021
27
0.230
Why?
Tay-Sachs Disease
1
2025
45
0.230
Why?
Infant
8
2025
1623
0.230
Why?
Hand Deformities, Congenital
1
2023
4
0.220
Why?
Amniocentesis
1
2023
5
0.220
Why?
Syndrome
2
2021
179
0.210
Why?
Fingers
1
2023
46
0.210
Why?
Child, Preschool
7
2025
1962
0.210
Why?
Humans
20
2025
62870
0.190
Why?
Genetic Variation
2
2021
385
0.190
Why?
CDX2 Transcription Factor
1
2021
5
0.190
Why?
Sacrococcygeal Region
1
2021
8
0.190
Why?
Muscle Spasticity
1
2021
4
0.190
Why?
Cerebral Palsy
1
2021
19
0.190
Why?
Child
8
2025
4478
0.180
Why?
Mitochondrial Diseases
1
2021
22
0.180
Why?
Glucose-6-Phosphate
1
2021
2
0.180
Why?
Pregnancy
2
2023
2326
0.180
Why?
Hypertrichosis
1
2021
4
0.180
Why?
Phosphotransferases
1
2021
23
0.180
Why?
Myeloid-Lymphoid Leukemia Protein
1
2021
6
0.180
Why?
Microcephaly
1
2021
14
0.180
Why?
Histone-Lysine N-Methyltransferase
1
2021
32
0.180
Why?
Female
14
2025
32569
0.180
Why?
Growth Disorders
1
2021
29
0.180
Why?
Rare Diseases
1
2021
42
0.180
Why?
Spasms, Infantile
1
2020
2
0.170
Why?
N-Acetylglucosaminyltransferases
1
2020
6
0.170
Why?
Congenital Disorders of Glycosylation
1
2020
7
0.170
Why?
Hearing Loss
1
2021
61
0.170
Why?
Mutation, Missense
2
2015
187
0.170
Why?
Leukemoid Reaction
1
2020
4
0.170
Why?
Epilepsy
1
2021
110
0.170
Why?
Twins, Monozygotic
1
2020
70
0.160
Why?
Diseases in Twins
1
2020
55
0.160
Why?
Young Adult
4
2023
4655
0.160
Why?
Alleles
4
2021
449
0.160
Why?
Down Syndrome
1
2020
47
0.160
Why?
Genetic Vectors
1
2025
852
0.160
Why?
Hypokalemia
1
2019
13
0.160
Why?
Dependovirus
1
2025
695
0.150
Why?
Genetic Therapy
1
2025
772
0.150
Why?
Matrix Attachment Region Binding Proteins
1
2018
3
0.150
Why?
Congenital Abnormalities
1
2016
26
0.130
Why?
Gene Rearrangement
1
2016
41
0.130
Why?
Adolescent
6
2025
6196
0.130
Why?
Adult
6
2023
16673
0.130
Why?
Genetic Markers
1
2016
127
0.130
Why?
Chromosome Aberrations
1
2016
68
0.130
Why?
Noonan Syndrome
1
2015
2
0.120
Why?
Neurofibromin 1
1
2015
14
0.120
Why?
Codon
1
2015
56
0.120
Why?
Amino Acid Substitution
1
2015
240
0.110
Why?
Genome-Wide Association Study
1
2016
364
0.110
Why?
Bottle Feeding
1
2014
5
0.110
Why?
Ultrasonography, Prenatal
1
2014
43
0.110
Why?
Male
11
2025
29555
0.110
Why?
Hypertension
1
2019
590
0.100
Why?
Pedigree
2
2021
193
0.100
Why?
Fatal Outcome
2
2011
123
0.100
Why?
Enzyme Replacement Therapy
1
2011
12
0.090
Why?
Serologic Tests
1
2011
37
0.090
Why?
Cross Reactions
1
2011
131
0.090
Why?
Patient Care Team
1
2014
337
0.090
Why?
Diagnosis, Differential
1
2014
964
0.090
Why?
Treatment Failure
1
2011
199
0.090
Why?
Glycosylation
2
2021
138
0.090
Why?
Transcription Factors
1
2018
1508
0.080
Why?
Recombinant Proteins
1
2011
700
0.080
Why?
beta-Hexosaminidase alpha Chain
1
2025
13
0.060
Why?
DNA Mutational Analysis
1
2006
196
0.060
Why?
Risk Factors
1
2014
5309
0.050
Why?
Intestines
1
2005
166
0.050
Why?
Liver Transplantation
1
2005
215
0.050
Why?
Failure to Thrive
1
2021
8
0.050
Why?
Age of Onset
1
2021
175
0.050
Why?
Eukaryotic Initiation Factor-3
1
2021
4
0.050
Why?
Loss of Function Mutation
1
2021
23
0.040
Why?
Constipation
1
2021
16
0.040
Why?
Diet, Ketogenic
1
2020
2
0.040
Why?
Genetic Testing
1
2021
131
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
6545
0.040
Why?
Databases, Genetic
1
2019
89
0.040
Why?
Genetic Loci
1
2019
118
0.040
Why?
Facies
1
2018
9
0.040
Why?
Global Health
1
2019
182
0.040
Why?
Inheritance Patterns
1
2018
19
0.040
Why?
Rats
1
2021
1980
0.040
Why?
Hydrocortisone
1
2019
193
0.030
Why?
Dwarfism
1
2015
15
0.030
Why?
Prognosis
1
2020
1729
0.030
Why?
Registries
1
2019
877
0.030
Why?
Polymorphism, Single Nucleotide
1
2018
495
0.030
Why?
Biomarkers
1
2020
1388
0.030
Why?
Middle Aged
2
2015
17394
0.030
Why?
Cohort Studies
1
2015
2549
0.020
Why?
Multiple Organ Failure
1
2005
43
0.010
Why?
Tissue Donors
1
2005
153
0.010
Why?
Animals
1
2021
20624
0.010
Why?
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Concepts (126)
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