Gerarda Cappuccio

Concepts (354)

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?
Intellectual Disability
29
2024
1087
4.660
Why?
Phenotype
42
2025
4472
2.430
Why?
Abnormalities, Multiple
10
2025
964
2.240
Why?
Neurodevelopmental Disorders
16
2024
628
1.840
Why?
Hand Deformities, Congenital
4
2022
95
1.470
Why?
Microcephaly
4
2022
348
1.440
Why?
Mutation
26
2024
6098
1.310
Why?
Mutation, Missense
15
2025
922
1.300
Why?
Autism Spectrum Disorder
5
2024
450
1.290
Why?
Face
4
2021
189
1.080
Why?
Growth Disorders
4
2022
183
1.040
Why?
Cryptorchidism
3
2022
37
0.970
Why?
Hydrocephalus
2
2019
242
0.930
Why?
Nervous System Malformations
3
2022
136
0.930
Why?
Lysine-tRNA Ligase
2
2023
5
0.890
Why?
Blepharophimosis
2
2024
25
0.850
Why?
Chromosome Deletion
4
2024
654
0.850
Why?
Epilepsy
8
2024
863
0.850
Why?
Microfilament Proteins
2
2025
269
0.840
Why?
Neural Stem Cells
1
2025
130
0.830
Why?
Biomarkers
3
2025
3385
0.820
Why?
Genetic Association Studies
10
2025
822
0.780
Why?
Craniofacial Abnormalities
6
2024
251
0.780
Why?
Child, Preschool
35
2025
14943
0.770
Why?
DNA Methylation
8
2025
1073
0.740
Why?
Tetralogy of Fallot
2
2022
169
0.740
Why?
Intestinal Atresia
1
2022
22
0.730
Why?
Monocarboxylic Acid Transporters
4
2025
38
0.720
Why?
Heart Defects, Congenital
5
2024
1872
0.710
Why?
Hypotrichosis
2
2024
8
0.700
Why?
Facies
7
2024
157
0.700
Why?
DNA Helicases
2
2022
236
0.690
Why?
Symporters
4
2025
80
0.690
Why?
Malformations of Cortical Development
2
2019
60
0.690
Why?
Developmental Disabilities
7
2024
780
0.680
Why?
Humans
84
2025
130436
0.670
Why?
Losartan
1
2020
36
0.660
Why?
Transcription Factors
7
2025
2423
0.650
Why?
Angiotensin II Type 1 Receptor Blockers
1
2020
56
0.650
Why?
Multiple Sulfatase Deficiency Disease
1
2020
15
0.640
Why?
Chromosomal Proteins, Non-Histone
1
2022
211
0.640
Why?
Adolescent
30
2025
20725
0.640
Why?
Comparative Genomic Hybridization
5
2016
567
0.640
Why?
Receptor, Notch3
1
2020
11
0.630
Why?
Sulfatases
1
2020
46
0.630
Why?
Computational Biology
1
2025
862
0.630
Why?
Meningocele
1
2020
18
0.630
Why?
Receptors, N-Methyl-D-Aspartate
4
2024
124
0.620
Why?
Cyclin D2
1
2019
14
0.600
Why?
Pseudogenes
1
2019
50
0.600
Why?
Polydactyly
1
2019
18
0.590
Why?
Wolman Disease
1
2019
7
0.590
Why?
Sterol Esterase
1
2019
20
0.590
Why?
Male
49
2025
64471
0.580
Why?
Chromosomes, Human, Pair 14
1
2019
94
0.580
Why?
Child
38
2025
26094
0.570
Why?
Spinocerebellar Ataxias
1
2020
152
0.570
Why?
Micrognathism
1
2019
64
0.570
Why?
Class I Phosphatidylinositol 3-Kinases
2
2022
78
0.560
Why?
Neck
1
2019
140
0.550
Why?
Hematologic Diseases
2
2021
82
0.540
Why?
Codon, Nonsense
2
2020
138
0.540
Why?
Female
49
2025
70351
0.540
Why?
Vestibular Diseases
2
2021
67
0.540
Why?
Lipoblastoma
1
2017
6
0.530
Why?
Dystonin
1
2017
1
0.530
Why?
Monosaccharide Transport Proteins
1
2017
43
0.530
Why?
Nuclear Proteins
3
2024
1218
0.520
Why?
Diet, Ketogenic
1
2017
26
0.520
Why?
Fingers
1
2017
63
0.520
Why?
DNA Copy Number Variations
3
2025
1021
0.510
Why?
Membrane Glycoproteins
1
2019
409
0.510
Why?
Rett Syndrome
2
2020
229
0.510
Why?
Vascular Malformations
2
2022
103
0.500
Why?
DNA-Binding Proteins
6
2024
1948
0.500
Why?
Limb Deformities, Congenital
1
2017
114
0.490
Why?
Gait
1
2017
141
0.490
Why?
Skin Diseases
1
2017
143
0.470
Why?
Retina
1
2019
441
0.460
Why?
Sleep Wake Disorders
1
2018
202
0.460
Why?
Lower Extremity
1
2017
184
0.460
Why?
Pedigree
9
2025
1673
0.450
Why?
Infant
18
2025
13228
0.440
Why?
Gene Expression
1
2019
1486
0.430
Why?
Methylenetetrahydrofolate Reductase (NADPH2)
1
2014
63
0.420
Why?
Homocystinuria
1
2014
26
0.420
Why?
Muscle Spasticity
1
2014
51
0.410
Why?
Langer-Giedion Syndrome
1
2013
3
0.410
Why?
Neoplasm Proteins
2
2019
679
0.410
Why?
Beckwith-Wiedemann Syndrome
1
2013
20
0.400
Why?
Young Adult
14
2022
9993
0.390
Why?
Nervous System Diseases
1
2017
395
0.390
Why?
Hereditary Central Nervous System Demyelinating Diseases
2
2025
20
0.380
Why?
Klippel-Trenaunay-Weber Syndrome
1
2012
6
0.380
Why?
Muscular Atrophy
2
2025
83
0.380
Why?
Translocation, Genetic
2
2013
344
0.370
Why?
Lipodystrophy
1
2012
37
0.370
Why?
Genetic Predisposition to Disease
8
2021
3406
0.360
Why?
Muscle Hypotonia
3
2025
194
0.360
Why?
Heterozygote
5
2025
725
0.340
Why?
Liver
1
2019
1790
0.340
Why?
Organoids
2
2024
301
0.340
Why?
Chromosome Disorders
2
2025
316
0.330
Why?
Osteochondrodysplasias
2
2021
68
0.320
Why?
Fibroblasts
3
2019
852
0.320
Why?
Follow-Up Studies
6
2022
5153
0.310
Why?
Brain
6
2025
3174
0.310
Why?
Smad4 Protein
2
2022
57
0.310
Why?
Syndrome
7
2022
1158
0.310
Why?
Epigenesis, Genetic
5
2025
756
0.280
Why?
Surveys and Questionnaires
1
2018
4035
0.280
Why?
DEAD-box RNA Helicases
2
2019
160
0.270
Why?
Exons
4
2020
760
0.270
Why?
Seizures
3
2022
876
0.270
Why?
Saccharomyces cerevisiae
2
2021
398
0.260
Why?
Infant, Newborn
7
2021
8519
0.250
Why?
Lung
1
2014
1534
0.230
Why?
Prognosis
5
2021
4861
0.230
Why?
Zebrafish
3
2023
417
0.230
Why?
Trans-Activators
2
2025
701
0.220
Why?
Hearing Loss, Sensorineural
2
2020
156
0.220
Why?
Genotype
5
2025
2589
0.220
Why?
Smith-Magenis Syndrome
1
2025
107
0.220
Why?
Foot Deformities, Congenital
2
2024
16
0.220
Why?
Brain Diseases
3
2024
298
0.210
Why?
Autophagosomes
1
2024
28
0.210
Why?
Vacuolar Proton-Translocating ATPases
1
2024
23
0.210
Why?
Magnetic Resonance Imaging
5
2020
3749
0.210
Why?
Contracture
1
2024
26
0.210
Why?
Chromosomes, Human, Pair 9
1
2024
109
0.210
Why?
Endoplasmic Reticulum-Associated Degradation
1
2024
22
0.200
Why?
Loss of Function Mutation
2
2025
170
0.200
Why?
Gene Deletion
2
2025
767
0.200
Why?
Amino Acyl-tRNA Synthetases
1
2023
26
0.200
Why?
Agammaglobulinemia
1
2023
43
0.200
Why?
Neurogenesis
1
2025
213
0.200
Why?
Serine
1
2024
161
0.200
Why?
Adult
12
2025
31120
0.200
Why?
Histone-Lysine N-Methyltransferase
1
2024
168
0.200
Why?
RNA Helicases
2
2022
76
0.190
Why?
Nerve Tissue Proteins
4
2024
1082
0.190
Why?
Haploinsufficiency
5
2024
265
0.190
Why?
Repressor Proteins
2
2024
763
0.180
Why?
Landau-Kleffner Syndrome
1
2022
6
0.180
Why?
Lysosomes
1
2024
268
0.180
Why?
Chromosome Aberrations
2
2016
573
0.180
Why?
Single-Cell Analysis
1
2025
352
0.180
Why?
Migraine with Aura
1
2022
16
0.180
Why?
Triiodothyronine
1
2022
54
0.180
Why?
Forkhead Transcription Factors
1
2024
373
0.180
Why?
Musculoskeletal Abnormalities
1
2022
67
0.180
Why?
Neural Crest
1
2022
50
0.170
Why?
Organisms, Genetically Modified
1
2021
10
0.170
Why?
Fused Kidney
1
2021
2
0.170
Why?
Minor Histocompatibility Antigens
1
2021
38
0.170
Why?
Eye Abnormalities
1
2022
104
0.170
Why?
Induced Pluripotent Stem Cells
1
2023
247
0.170
Why?
Brain Diseases, Metabolic, Inborn
1
2021
25
0.170
Why?
Breast Neoplasms
1
2013
2599
0.170
Why?
Methyl-CpG-Binding Protein 2
1
2023
284
0.170
Why?
Autistic Disorder
2
2023
395
0.170
Why?
SKP Cullin F-Box Protein Ligases
1
2020
17
0.170
Why?
Histone Acetyltransferases
1
2021
228
0.170
Why?
Cytosol
1
2021
135
0.170
Why?
Myoclonic Epilepsies, Progressive
1
2020
13
0.170
Why?
Sequence Deletion
2
2014
517
0.160
Why?
Rubinstein-Taybi Syndrome
1
2020
16
0.160
Why?
Isoenzymes
1
2021
211
0.160
Why?
Nicotinamide-Nucleotide Adenylyltransferase
1
2020
13
0.160
Why?
Inositol
1
2020
14
0.160
Why?
E1A-Associated p300 Protein
1
2020
50
0.160
Why?
Alleles
2
2025
1675
0.160
Why?
Age of Onset
3
2019
595
0.160
Why?
Leber Congenital Amaurosis
1
2020
24
0.160
Why?
Agenesis of Corpus Callosum
2
2022
49
0.160
Why?
Transcription Factors, TFII
1
2020
8
0.160
Why?
Severity of Illness Index
3
2019
3029
0.160
Why?
Adenosine Triphosphatases
1
2021
190
0.160
Why?
Inositol 1,4,5-Trisphosphate Receptors
1
2020
27
0.160
Why?
RNA-Binding Proteins
2
2021
538
0.160
Why?
Ubiquitin-Conjugating Enzymes
1
2020
37
0.160
Why?
Arnold-Chiari Malformation
1
2020
51
0.160
Why?
Hippocampus
1
2025
798
0.160
Why?
Williams Syndrome
1
2020
42
0.160
Why?
Heart Septal Defects, Ventricular
1
2021
133
0.160
Why?
Arginine-tRNA Ligase
1
2019
9
0.150
Why?
Language Development Disorders
1
2021
176
0.150
Why?
Cohort Studies
4
2021
5034
0.150
Why?
Genetics, Population
1
2020
177
0.150
Why?
Genetic Diseases, X-Linked
1
2020
83
0.150
Why?
Sphingomyelin Phosphodiesterase
1
2019
42
0.150
Why?
Arthrogryposis
1
2019
37
0.150
Why?
Homozygote
1
2021
535
0.150
Why?
Chromosomes, Human, Pair 16
1
2020
148
0.150
Why?
Muscular Diseases
1
2020
124
0.150
Why?
DNA-Directed RNA Polymerases
1
2019
85
0.150
Why?
Adaptor Protein Complex sigma Subunits
1
2018
2
0.150
Why?
Spine
1
2020
150
0.150
Why?
Spasms, Infantile
1
2020
165
0.140
Why?
Folic Acid Deficiency
1
2018
45
0.140
Why?
Italy
1
2018
114
0.140
Why?
Hospitals, University
1
2018
103
0.140
Why?
Survival Rate
2
2020
2112
0.140
Why?
Pupil Disorders
1
2017
18
0.130
Why?
Sex Distribution
1
2018
317
0.130
Why?
Statistics, Nonparametric
1
2018
424
0.130
Why?
Age Distribution
1
2018
421
0.130
Why?
Congenital Abnormalities
1
2021
323
0.130
Why?
Carbohydrate Metabolism, Inborn Errors
1
2017
39
0.130
Why?
Diffusion Tensor Imaging
1
2019
251
0.130
Why?
Gain of Function Mutation
1
2017
116
0.120
Why?
Analysis of Variance
1
2018
934
0.120
Why?
Mice
5
2025
18229
0.120
Why?
Cytogenetic Analysis
2
2014
78
0.120
Why?
Pilot Projects
1
2020
1444
0.120
Why?
Cerebellum
1
2020
440
0.120
Why?
Polymicrogyria
1
2016
1
0.120
Why?
Skin
1
2019
536
0.120
Why?
Pain
1
2018
429
0.120
Why?
Mitochondria
1
2021
776
0.110
Why?
Animals
7
2025
33857
0.110
Why?
Fatty Acids
1
2017
373
0.110
Why?
Disease Progression
1
2021
2194
0.110
Why?
Cross-Sectional Studies
2
2020
3798
0.110
Why?
Phosphatidylinositol 3-Kinases
1
2016
336
0.100
Why?
Transforming Growth Factor beta2
1
2014
12
0.100
Why?
Wolf-Hirschhorn Syndrome
1
2013
8
0.100
Why?
Chromosome Banding
1
2013
135
0.100
Why?
Charcot-Marie-Tooth Disease
1
2015
237
0.100
Why?
Chromosomes, Human, Pair 4
1
2013
53
0.100
Why?
Chromosome Breakage
1
2014
154
0.100
Why?
Deafness
2
2024
79
0.100
Why?
Case-Control Studies
4
2021
3355
0.100
Why?
Comorbidity
1
2018
1583
0.100
Why?
Metabolomics
1
2017
501
0.100
Why?
Loeys-Dietz Syndrome
1
2014
42
0.100
Why?
Hyperplasia
1
2013
189
0.100
Why?
CpG Islands
2
2025
334
0.090
Why?
Buttocks
1
2012
5
0.090
Why?
Psychotic Disorders
1
2014
146
0.090
Why?
Energy Metabolism
1
2017
801
0.090
Why?
Chromosome Duplication
2
2025
146
0.090
Why?
Hypoglycemia
1
2014
183
0.090
Why?
Thigh
1
2012
50
0.090
Why?
Nephrosis
1
2012
6
0.090
Why?
Mental Disorders
1
2020
903
0.090
Why?
Tricuspid Valve Insufficiency
1
2012
61
0.090
Why?
Hypoparathyroidism
1
2012
10
0.090
Why?
Ehlers-Danlos Syndrome
1
2012
52
0.090
Why?
In Situ Hybridization, Fluorescence
1
2013
742
0.090
Why?
Chromosomes, Human, Pair 10
1
2012
67
0.090
Why?
Cells, Cultured
1
2017
2894
0.090
Why?
Incontinentia Pigmenti
1
2011
16
0.090
Why?
Fibrosis
1
2013
418
0.090
Why?
Polymorphism, Single Nucleotide
1
2020
2826
0.090
Why?
Heterogeneous-Nuclear Ribonucleoprotein U
2
2022
8
0.090
Why?
Chromosomes, Human, Pair 21
1
2011
34
0.090
Why?
Aortic Valve Insufficiency
1
2012
146
0.080
Why?
Chromosomes, Human, X
1
2011
154
0.080
Why?
Gene Silencing
1
2011
231
0.080
Why?
Incidence
1
2018
3313
0.080
Why?
International Agencies
2
2020
28
0.080
Why?
Mitral Valve Insufficiency
1
2012
178
0.080
Why?
Myelodysplastic Syndromes
1
2011
125
0.080
Why?
Retrospective Studies
4
2022
17510
0.080
Why?
Brain Neoplasms
1
2019
1319
0.070
Why?
Gene Rearrangement
1
2011
322
0.070
Why?
Risk Assessment
1
2018
3675
0.070
Why?
Homeodomain Proteins
2
2024
562
0.070
Why?
Mitochondrial Proteins
2
2023
285
0.070
Why?
Aged, 80 and over
1
2019
6788
0.070
Why?
Middle Aged
4
2022
28395
0.070
Why?
Genetic Variation
1
2014
1541
0.070
Why?
Aged
3
2022
20888
0.060
Why?
Skin Abnormalities
2
2020
34
0.060
Why?
Electroencephalography
2
2022
849
0.060
Why?
Microtubules
1
2025
131
0.050
Why?
Thyroid Hormones
1
2025
54
0.050
Why?
Histocompatibility Antigens
1
2024
17
0.050
Why?
Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
1
2024
65
0.050
Why?
Brain Chemistry
1
2024
111
0.050
Why?
Protein Isoforms
1
2025
423
0.050
Why?
Prosencephalon
1
2024
40
0.050
Why?
Molecular Imaging
1
2024
60
0.050
Why?
Chromosomes, Human, Pair 17
1
2025
363
0.050
Why?
POU Domain Factors
1
2023
8
0.050
Why?
United States
1
2019
11874
0.050
Why?
Mass Spectrometry
1
2024
358
0.050
Why?
DNA, Intergenic
1
2022
18
0.050
Why?
RNA Recognition Motif Proteins
1
2022
20
0.050
Why?
Poly-ADP-Ribose Binding Proteins
1
2022
29
0.050
Why?
p120 GTPase Activating Protein
1
2022
7
0.050
Why?
Gene Duplication
1
2023
358
0.040
Why?
Sodium-Potassium-Exchanging ATPase
1
2022
64
0.040
Why?
DNA, Mitochondrial
1
2023
231
0.040
Why?
Pregnancy
1
2014
7394
0.040
Why?
Ubiquitin-Protein Ligases
1
2024
356
0.040
Why?
Transcriptional Elongation Factors
1
2021
28
0.040
Why?
Protein Stability
1
2021
165
0.040
Why?
CCCTC-Binding Factor
1
2020
14
0.040
Why?
Syringomyelia
1
2020
18
0.040
Why?
GTP-Binding Proteins
1
2021
157
0.040
Why?
KCNQ3 Potassium Channel
1
2020
18
0.040
Why?
Epileptic Syndromes
1
2020
35
0.040
Why?
NAD
1
2020
52
0.040
Why?
GTP-Binding Protein alpha Subunits, Gi-Go
1
2020
22
0.040
Why?
Cleavage And Polyadenylation Specificity Factor
1
2020
15
0.040
Why?
Signal Transduction
2
2024
4670
0.040
Why?
Chromosomes, Human, Pair 7
1
2020
77
0.040
Why?
Frameshift Mutation
1
2020
202
0.040
Why?
Retinal Degeneration
1
2020
91
0.040
Why?
Heart Diseases
1
2024
499
0.040
Why?
Gene Frequency
1
2021
731
0.040
Why?
Mitosis
1
2019
192
0.040
Why?
DNA Mutational Analysis
1
2020
779
0.040
Why?
Proteins
1
2024
1008
0.040
Why?
Endoplasmic Reticulum
1
2019
209
0.040
Why?
Urogenital Abnormalities
1
2020
154
0.030
Why?
RNA Splicing
1
2019
237
0.030
Why?
Transcription, Genetic
1
2023
1367
0.030
Why?
Evolution, Molecular
1
2021
645
0.030
Why?
Models, Molecular
1
2021
1061
0.030
Why?
HeLa Cells
1
2019
691
0.030
Why?
Cell Lineage
1
2019
341
0.030
Why?
Diagnosis, Differential
2
2013
1875
0.030
Why?
Genetic Testing
1
2024
1107
0.030
Why?
Reproducibility of Results
1
2024
2896
0.030
Why?
Amino Acid Sequence
1
2021
2397
0.030
Why?
Treatment Outcome
2
2024
12834
0.030
Why?
Drug Resistant Epilepsy
1
2020
273
0.030
Why?
Family
1
2020
585
0.030
Why?
DNA
1
2022
1400
0.030
Why?
HEK293 Cells
1
2019
805
0.030
Why?
Genomics
1
2025
1618
0.030
Why?
Cell Differentiation
1
2023
1920
0.030
Why?
Mice, Knockout
1
2024
3830
0.030
Why?
High-Throughput Nucleotide Sequencing
1
2020
891
0.030
Why?
Neurologic Examination
1
2015
187
0.030
Why?
GTP Phosphohydrolases
1
2015
157
0.030
Why?
Quality of Life
1
2024
2074
0.030
Why?
Gene Expression Profiling
1
2019
1807
0.020
Why?
Collagen Type I
1
2012
110
0.020
Why?
Joint Instability
1
2012
55
0.020
Why?
GATA3 Transcription Factor
1
2012
44
0.020
Why?
I-kappa B Kinase
1
2011
55
0.020
Why?
Monosomy
1
2011
24
0.020
Why?
DiGeorge Syndrome
1
2012
83
0.020
Why?
Core Binding Factor Alpha 2 Subunit
1
2011
40
0.020
Why?
Trisomy
1
2011
111
0.020
Why?
Enzyme Inhibitors
1
2012
559
0.020
Why?
Disease Models, Animal
1
2020
4667
0.020
Why?
Histones
1
2011
545
0.020
Why?
RNA, Messenger
1
2011
2551
0.010
Why?
Obesity
1
2013
2383
0.010
Why?
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