Gerarda Cappuccio

Concepts (353)

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
1093
4.740
Why?
Phenotype
42
2025
4541
2.490
Why?
Abnormalities, Multiple
9
2022
982
2.260
Why?
Neurodevelopmental Disorders
16
2024
553
1.990
Why?
Hand Deformities, Congenital
4
2022
94
1.520
Why?
Microcephaly
4
2022
354
1.490
Why?
Autism Spectrum Disorder
5
2024
430
1.340
Why?
Mutation, Missense
15
2025
938
1.330
Why?
Mutation
26
2024
6249
1.330
Why?
Face
4
2021
189
1.120
Why?
Growth Disorders
4
2022
191
1.080
Why?
Cryptorchidism
3
2022
37
1.000
Why?
Nervous System Malformations
3
2022
132
0.960
Why?
Hydrocephalus
2
2019
276
0.940
Why?
Lysine-tRNA Ligase
2
2023
5
0.920
Why?
Blepharophimosis
2
2024
26
0.880
Why?
Chromosome Deletion
4
2024
657
0.880
Why?
Epilepsy
8
2024
891
0.860
Why?
Microfilament Proteins
2
2025
285
0.860
Why?
Neural Stem Cells
1
2025
151
0.850
Why?
Biomarkers
3
2025
3380
0.840
Why?
Child, Preschool
35
2025
14718
0.800
Why?
Craniofacial Abnormalities
6
2024
254
0.800
Why?
Genetic Association Studies
10
2025
856
0.800
Why?
Tetralogy of Fallot
2
2022
171
0.770
Why?
Intestinal Atresia
1
2022
20
0.760
Why?
Monocarboxylic Acid Transporters
4
2025
37
0.740
Why?
Heart Defects, Congenital
5
2024
1867
0.740
Why?
Hypotrichosis
2
2024
8
0.730
Why?
Facies
7
2024
156
0.720
Why?
Symporters
4
2025
77
0.720
Why?
Developmental Disabilities
7
2024
749
0.720
Why?
DNA Helicases
2
2022
241
0.720
Why?
Malformations of Cortical Development
2
2019
54
0.710
Why?
Losartan
1
2020
35
0.680
Why?
Humans
83
2025
132105
0.680
Why?
Chromosomal Proteins, Non-Histone
1
2022
201
0.670
Why?
Angiotensin II Type 1 Receptor Blockers
1
2020
57
0.670
Why?
Multiple Sulfatase Deficiency Disease
1
2020
15
0.660
Why?
Adolescent
30
2025
20532
0.660
Why?
Sulfatases
1
2020
44
0.660
Why?
Receptor, Notch3
1
2020
12
0.660
Why?
Comparative Genomic Hybridization
5
2016
578
0.650
Why?
Computational Biology
1
2025
873
0.650
Why?
Meningocele
1
2020
18
0.650
Why?
Transcription Factors
6
2024
2494
0.640
Why?
Receptors, N-Methyl-D-Aspartate
4
2024
149
0.630
Why?
Cyclin D2
1
2019
15
0.620
Why?
Pseudogenes
1
2019
51
0.620
Why?
Polydactyly
1
2019
18
0.610
Why?
Wolman Disease
1
2019
7
0.610
Why?
Sterol Esterase
1
2019
21
0.610
Why?
DNA Methylation
7
2024
1130
0.610
Why?
Chromosomes, Human, Pair 14
1
2019
98
0.590
Why?
Child
38
2025
25758
0.590
Why?
Male
48
2025
64918
0.590
Why?
Micrognathism
1
2019
67
0.590
Why?
Class I Phosphatidylinositol 3-Kinases
2
2022
85
0.570
Why?
Hematologic Diseases
2
2021
82
0.560
Why?
Neck
1
2019
142
0.560
Why?
Codon, Nonsense
2
2020
144
0.560
Why?
Vestibular Diseases
2
2021
67
0.560
Why?
Lipoblastoma
1
2017
6
0.550
Why?
Dystonin
1
2017
1
0.550
Why?
Female
48
2025
70680
0.550
Why?
Monosaccharide Transport Proteins
1
2017
43
0.550
Why?
Spinocerebellar Ataxias
1
2020
254
0.540
Why?
Diet, Ketogenic
1
2017
25
0.540
Why?
Fingers
1
2017
67
0.530
Why?
Nuclear Proteins
3
2024
1285
0.530
Why?
Membrane Glycoproteins
1
2019
421
0.520
Why?
Vascular Malformations
2
2022
112
0.510
Why?
Limb Deformities, Congenital
1
2017
112
0.510
Why?
DNA-Binding Proteins
6
2024
1997
0.510
Why?
Gait
1
2017
140
0.500
Why?
Rett Syndrome
2
2020
290
0.500
Why?
Sleep Wake Disorders
1
2018
197
0.490
Why?
Skin Diseases
1
2017
137
0.480
Why?
DNA Copy Number Variations
2
2024
1035
0.480
Why?
Lower Extremity
1
2017
188
0.470
Why?
Retina
1
2019
492
0.470
Why?
Infant
18
2025
13039
0.460
Why?
Pedigree
9
2025
1725
0.460
Why?
Gene Expression
1
2019
1564
0.440
Why?
Homocystinuria
1
2014
26
0.430
Why?
Methylenetetrahydrofolate Reductase (NADPH2)
1
2014
64
0.430
Why?
Langer-Giedion Syndrome
1
2013
3
0.430
Why?
Neoplasm Proteins
2
2019
701
0.420
Why?
Muscle Spasticity
1
2014
61
0.420
Why?
Beckwith-Wiedemann Syndrome
1
2013
16
0.420
Why?
Young Adult
14
2022
9940
0.410
Why?
Nervous System Diseases
1
2017
411
0.400
Why?
Hereditary Central Nervous System Demyelinating Diseases
2
2025
19
0.390
Why?
Klippel-Trenaunay-Weber Syndrome
1
2012
8
0.390
Why?
Muscular Atrophy
2
2025
90
0.390
Why?
Translocation, Genetic
2
2013
359
0.380
Why?
Lipodystrophy
1
2012
33
0.380
Why?
Genetic Predisposition to Disease
8
2021
3358
0.370
Why?
Muscle Hypotonia
3
2025
199
0.370
Why?
Heterozygote
5
2025
716
0.360
Why?
Liver
1
2019
1806
0.360
Why?
Organoids
2
2024
301
0.350
Why?
Osteochondrodysplasias
2
2021
68
0.330
Why?
Fibroblasts
3
2019
877
0.330
Why?
Brain
6
2025
3201
0.320
Why?
Smad4 Protein
2
2022
58
0.320
Why?
Follow-Up Studies
6
2022
5399
0.320
Why?
Syndrome
7
2022
1173
0.310
Why?
Surveys and Questionnaires
1
2018
3982
0.290
Why?
DEAD-box RNA Helicases
2
2019
147
0.280
Why?
Seizures
3
2022
895
0.280
Why?
Exons
4
2020
802
0.270
Why?
Saccharomyces cerevisiae
2
2021
417
0.270
Why?
Infant, Newborn
7
2021
8538
0.260
Why?
Epigenesis, Genetic
4
2022
757
0.250
Why?
Lung
1
2014
1556
0.240
Why?
Prognosis
5
2021
5008
0.230
Why?
Zebrafish
3
2023
420
0.230
Why?
Hearing Loss, Sensorineural
2
2020
156
0.230
Why?
Genotype
5
2025
2706
0.220
Why?
Foot Deformities, Congenital
2
2024
16
0.220
Why?
Autophagosomes
1
2024
30
0.220
Why?
Brain Diseases
3
2024
307
0.220
Why?
Vacuolar Proton-Translocating ATPases
1
2024
23
0.220
Why?
Magnetic Resonance Imaging
5
2020
3854
0.220
Why?
Contracture
1
2024
27
0.220
Why?
Loss of Function Mutation
2
2025
160
0.210
Why?
Chromosomes, Human, Pair 9
1
2024
109
0.210
Why?
Endoplasmic Reticulum-Associated Degradation
1
2024
22
0.210
Why?
Amino Acyl-tRNA Synthetases
1
2023
26
0.210
Why?
Gene Deletion
2
2025
795
0.210
Why?
Agammaglobulinemia
1
2023
44
0.200
Why?
Neurogenesis
1
2025
221
0.200
Why?
Serine
1
2024
166
0.200
Why?
Adult
12
2025
31557
0.200
Why?
Histone-Lysine N-Methyltransferase
1
2024
172
0.200
Why?
Haploinsufficiency
5
2024
270
0.200
Why?
RNA Helicases
2
2022
70
0.200
Why?
Lysosomes
1
2024
261
0.190
Why?
Landau-Kleffner Syndrome
1
2022
7
0.190
Why?
Chromosome Aberrations
2
2016
591
0.190
Why?
Repressor Proteins
2
2024
815
0.190
Why?
Single-Cell Analysis
1
2025
353
0.190
Why?
Migraine with Aura
1
2022
16
0.180
Why?
Triiodothyronine
1
2022
59
0.180
Why?
Forkhead Transcription Factors
1
2024
387
0.180
Why?
Trans-Activators
1
2025
714
0.180
Why?
Musculoskeletal Abnormalities
1
2022
72
0.180
Why?
Neural Crest
1
2022
55
0.180
Why?
Minor Histocompatibility Antigens
1
2021
39
0.180
Why?
Organisms, Genetically Modified
1
2021
11
0.180
Why?
Fused Kidney
1
2021
3
0.180
Why?
Eye Abnormalities
1
2022
104
0.180
Why?
Induced Pluripotent Stem Cells
1
2023
228
0.180
Why?
Brain Diseases, Metabolic, Inborn
1
2021
22
0.180
Why?
Autistic Disorder
2
2023
387
0.170
Why?
Methyl-CpG-Binding Protein 2
1
2023
305
0.170
Why?
SKP Cullin F-Box Protein Ligases
1
2020
21
0.170
Why?
Histone Acetyltransferases
1
2021
227
0.170
Why?
Breast Neoplasms
1
2013
2683
0.170
Why?
Myoclonic Epilepsies, Progressive
1
2020
13
0.170
Why?
Cytosol
1
2021
144
0.170
Why?
Sequence Deletion
2
2014
527
0.170
Why?
Rubinstein-Taybi Syndrome
1
2020
17
0.170
Why?
Isoenzymes
1
2021
222
0.170
Why?
Inositol
1
2020
14
0.170
Why?
Nicotinamide-Nucleotide Adenylyltransferase
1
2020
14
0.170
Why?
E1A-Associated p300 Protein
1
2020
52
0.170
Why?
Agenesis of Corpus Callosum
2
2022
44
0.170
Why?
Transcription Factors, TFII
1
2020
7
0.170
Why?
Alleles
2
2025
1684
0.170
Why?
Age of Onset
3
2019
626
0.170
Why?
Leber Congenital Amaurosis
1
2020
34
0.160
Why?
Inositol 1,4,5-Trisphosphate Receptors
1
2020
34
0.160
Why?
Severity of Illness Index
3
2019
3083
0.160
Why?
Heart Septal Defects, Ventricular
1
2021
134
0.160
Why?
Adenosine Triphosphatases
1
2021
198
0.160
Why?
Arnold-Chiari Malformation
1
2020
50
0.160
Why?
Ubiquitin-Conjugating Enzymes
1
2020
39
0.160
Why?
Williams Syndrome
1
2020
42
0.160
Why?
Hippocampus
1
2025
819
0.160
Why?
Arginine-tRNA Ligase
1
2019
9
0.160
Why?
Language Development Disorders
1
2021
179
0.160
Why?
Genetics, Population
1
2020
188
0.160
Why?
Genetic Diseases, X-Linked
1
2020
79
0.160
Why?
RNA-Binding Proteins
2
2021
605
0.160
Why?
Cohort Studies
4
2021
5150
0.160
Why?
Sphingomyelin Phosphodiesterase
1
2019
43
0.150
Why?
Arthrogryposis
1
2019
39
0.150
Why?
Muscular Diseases
1
2020
117
0.150
Why?
Spine
1
2020
147
0.150
Why?
Chromosomes, Human, Pair 16
1
2020
150
0.150
Why?
DNA-Directed RNA Polymerases
1
2019
82
0.150
Why?
Homozygote
1
2021
549
0.150
Why?
Adaptor Protein Complex sigma Subunits
1
2018
2
0.150
Why?
Spasms, Infantile
1
2020
175
0.150
Why?
Folic Acid Deficiency
1
2018
51
0.150
Why?
Italy
1
2018
130
0.150
Why?
Hospitals, University
1
2018
106
0.140
Why?
Survival Rate
2
2020
2186
0.140
Why?
Congenital Abnormalities
1
2021
300
0.140
Why?
Pupil Disorders
1
2017
19
0.140
Why?
Chromosome Disorders
1
2020
312
0.140
Why?
Sex Distribution
1
2018
324
0.140
Why?
Statistics, Nonparametric
1
2018
439
0.140
Why?
Age Distribution
1
2018
433
0.140
Why?
Carbohydrate Metabolism, Inborn Errors
1
2017
39
0.130
Why?
Diffusion Tensor Imaging
1
2019
253
0.130
Why?
Gain of Function Mutation
1
2017
111
0.130
Why?
Cytogenetic Analysis
2
2014
81
0.130
Why?
Analysis of Variance
1
2018
1008
0.130
Why?
Mice
5
2025
18566
0.130
Why?
Cerebellum
1
2020
463
0.130
Why?
Pilot Projects
1
2020
1451
0.120
Why?
Polymicrogyria
1
2016
2
0.120
Why?
Nerve Tissue Proteins
2
2024
1132
0.120
Why?
Skin
1
2019
538
0.120
Why?
Mitochondria
1
2021
752
0.120
Why?
Pain
1
2018
462
0.120
Why?
Animals
7
2025
34953
0.120
Why?
Fatty Acids
1
2017
357
0.110
Why?
Disease Progression
1
2021
2227
0.110
Why?
Cross-Sectional Studies
2
2020
3738
0.110
Why?
Transforming Growth Factor beta2
1
2014
11
0.110
Why?
Phosphatidylinositol 3-Kinases
1
2016
343
0.110
Why?
Wolf-Hirschhorn Syndrome
1
2013
8
0.110
Why?
Chromosome Banding
1
2013
140
0.110
Why?
Charcot-Marie-Tooth Disease
1
2015
239
0.100
Why?
Chromosomes, Human, Pair 4
1
2013
55
0.100
Why?
Metabolomics
1
2017
473
0.100
Why?
Chromosome Breakage
1
2014
158
0.100
Why?
Case-Control Studies
4
2021
3418
0.100
Why?
Deafness
2
2024
85
0.100
Why?
Comorbidity
1
2018
1606
0.100
Why?
Loeys-Dietz Syndrome
1
2014
42
0.100
Why?
Hyperplasia
1
2013
196
0.100
Why?
Buttocks
1
2012
6
0.100
Why?
Psychotic Disorders
1
2014
150
0.100
Why?
Mental Disorders
1
2020
893
0.100
Why?
Energy Metabolism
1
2017
784
0.100
Why?
Nephrosis
1
2012
6
0.090
Why?
Hypoglycemia
1
2014
183
0.090
Why?
Thigh
1
2012
51
0.090
Why?
Hypoparathyroidism
1
2012
11
0.090
Why?
Tricuspid Valve Insufficiency
1
2012
65
0.090
Why?
Ehlers-Danlos Syndrome
1
2012
52
0.090
Why?
In Situ Hybridization, Fluorescence
1
2013
775
0.090
Why?
Chromosomes, Human, Pair 10
1
2012
71
0.090
Why?
Incontinentia Pigmenti
1
2011
16
0.090
Why?
Fibrosis
1
2013
428
0.090
Why?
Polymorphism, Single Nucleotide
1
2020
2851
0.090
Why?
Heterogeneous-Nuclear Ribonucleoprotein U
2
2022
8
0.090
Why?
Cells, Cultured
1
2017
3061
0.090
Why?
Chromosomes, Human, Pair 21
1
2011
42
0.090
Why?
Aortic Valve Insufficiency
1
2012
157
0.090
Why?
Chromosomes, Human, X
1
2011
158
0.080
Why?
Gene Silencing
1
2011
240
0.080
Why?
Incidence
1
2018
3365
0.080
Why?
International Agencies
2
2020
30
0.080
Why?
Mitral Valve Insufficiency
1
2012
185
0.080
Why?
Myelodysplastic Syndromes
1
2011
127
0.080
Why?
Retrospective Studies
4
2022
17374
0.080
Why?
Gene Rearrangement
1
2011
328
0.080
Why?
Brain Neoplasms
1
2019
1411
0.080
Why?
Homeodomain Proteins
2
2024
573
0.070
Why?
Risk Assessment
1
2018
3714
0.070
Why?
Mitochondrial Proteins
2
2023
259
0.070
Why?
Middle Aged
4
2022
28936
0.070
Why?
Aged, 80 and over
1
2019
7119
0.070
Why?
Genetic Variation
1
2014
1581
0.070
Why?
Aged
3
2022
21413
0.070
Why?
Skin Abnormalities
2
2020
35
0.070
Why?
Electroencephalography
2
2022
908
0.060
Why?
Microtubules
1
2025
131
0.060
Why?
Thyroid Hormones
1
2025
56
0.060
Why?
Histocompatibility Antigens
1
2024
18
0.060
Why?
Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
1
2024
69
0.060
Why?
Brain Chemistry
1
2024
118
0.050
Why?
Protein Isoforms
1
2025
422
0.050
Why?
Prosencephalon
1
2024
42
0.050
Why?
Molecular Imaging
1
2024
63
0.050
Why?
POU Domain Factors
1
2023
8
0.050
Why?
United States
1
2019
11627
0.050
Why?
Mass Spectrometry
1
2024
356
0.050
Why?
DNA, Intergenic
1
2022
19
0.050
Why?
RNA Recognition Motif Proteins
1
2022
18
0.050
Why?
Poly-ADP-Ribose Binding Proteins
1
2022
29
0.050
Why?
p120 GTPase Activating Protein
1
2022
5
0.050
Why?
Gene Duplication
1
2023
371
0.050
Why?
Sodium-Potassium-Exchanging ATPase
1
2022
71
0.050
Why?
DNA, Mitochondrial
1
2023
243
0.040
Why?
Transcriptional Elongation Factors
1
2021
28
0.040
Why?
CpG Islands
1
2022
345
0.040
Why?
Ubiquitin-Protein Ligases
1
2024
377
0.040
Why?
Pregnancy
1
2014
7551
0.040
Why?
Protein Stability
1
2021
167
0.040
Why?
Syringomyelia
1
2020
18
0.040
Why?
CCCTC-Binding Factor
1
2020
20
0.040
Why?
KCNQ3 Potassium Channel
1
2020
19
0.040
Why?
GTP-Binding Proteins
1
2021
173
0.040
Why?
Epileptic Syndromes
1
2020
32
0.040
Why?
NAD
1
2020
52
0.040
Why?
GTP-Binding Protein alpha Subunits, Gi-Go
1
2020
19
0.040
Why?
Cleavage And Polyadenylation Specificity Factor
1
2020
12
0.040
Why?
Signal Transduction
2
2024
4725
0.040
Why?
Chromosomes, Human, Pair 7
1
2020
76
0.040
Why?
Frameshift Mutation
1
2020
201
0.040
Why?
Heart Diseases
1
2024
511
0.040
Why?
Chromosome Duplication
1
2020
149
0.040
Why?
Gene Frequency
1
2021
751
0.040
Why?
Retinal Degeneration
1
2020
103
0.040
Why?
Mitosis
1
2019
201
0.040
Why?
DNA Mutational Analysis
1
2020
825
0.040
Why?
Endoplasmic Reticulum
1
2019
221
0.040
Why?
Proteins
1
2024
1038
0.040
Why?
Urogenital Abnormalities
1
2020
167
0.040
Why?
Basic Helix-Loop-Helix Transcription Factors
1
2020
381
0.040
Why?
Transcription, Genetic
1
2023
1425
0.030
Why?
RNA Splicing
1
2019
243
0.030
Why?
Cell Lineage
1
2019
359
0.030
Why?
HeLa Cells
1
2019
732
0.030
Why?
Models, Molecular
1
2021
1118
0.030
Why?
Drug Resistant Epilepsy
1
2020
235
0.030
Why?
Evolution, Molecular
1
2021
698
0.030
Why?
Genetic Testing
1
2024
1098
0.030
Why?
Diagnosis, Differential
2
2013
1966
0.030
Why?
Reproducibility of Results
1
2024
3021
0.030
Why?
Treatment Outcome
2
2024
13017
0.030
Why?
Family
1
2020
594
0.030
Why?
HEK293 Cells
1
2019
796
0.030
Why?
Amino Acid Sequence
1
2021
2674
0.030
Why?
Genomics
1
2025
1651
0.030
Why?
DNA
1
2022
1483
0.030
Why?
Cell Differentiation
1
2023
1975
0.030
Why?
Mice, Knockout
1
2024
3873
0.030
Why?
Neurologic Examination
1
2015
202
0.030
Why?
High-Throughput Nucleotide Sequencing
1
2020
946
0.030
Why?
GTP Phosphohydrolases
1
2015
156
0.030
Why?
Quality of Life
1
2024
2152
0.030
Why?
Collagen Type I
1
2012
123
0.020
Why?
Gene Expression Profiling
1
2019
1879
0.020
Why?
Joint Instability
1
2012
59
0.020
Why?
GATA3 Transcription Factor
1
2012
43
0.020
Why?
I-kappa B Kinase
1
2011
58
0.020
Why?
Monosomy
1
2011
25
0.020
Why?
DiGeorge Syndrome
1
2012
82
0.020
Why?
Core Binding Factor Alpha 2 Subunit
1
2011
38
0.020
Why?
Trisomy
1
2011
112
0.020
Why?
Enzyme Inhibitors
1
2012
589
0.020
Why?
Disease Models, Animal
1
2020
4694
0.020
Why?
Histones
1
2011
538
0.020
Why?
RNA, Messenger
1
2011
2679
0.010
Why?
Obesity
1
2013
2396
0.010
Why?
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