Gerarda Cappuccio

Concepts (348)

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
1047
4.790
Why?
Phenotype
40
2025
4313
2.460
Why?
Abnormalities, Multiple
10
2025
966
2.290
Why?
Neurodevelopmental Disorders
16
2024
523
2.010
Why?
Hand Deformities, Congenital
4
2022
95
1.510
Why?
Microcephaly
4
2022
343
1.490
Why?
Mutation
26
2024
5933
1.360
Why?
Autism Spectrum Disorder
5
2024
420
1.340
Why?
Mutation, Missense
14
2025
889
1.300
Why?
Face
4
2021
186
1.120
Why?
Growth Disorders
4
2022
185
1.060
Why?
Cryptorchidism
3
2022
38
0.990
Why?
Nervous System Malformations
3
2022
119
0.970
Why?
Hydrocephalus
2
2019
277
0.940
Why?
Lysine-tRNA Ligase
2
2023
5
0.920
Why?
Blepharophimosis
2
2024
25
0.880
Why?
Chromosome Deletion
4
2024
642
0.880
Why?
Biomarkers
3
2025
3149
0.860
Why?
Neural Stem Cells
1
2025
130
0.850
Why?
Craniofacial Abnormalities
6
2024
252
0.800
Why?
Tetralogy of Fallot
2
2022
173
0.760
Why?
Child, Preschool
32
2025
14375
0.750
Why?
Intestinal Atresia
1
2022
20
0.750
Why?
Heart Defects, Congenital
5
2024
1840
0.740
Why?
Epilepsy
7
2024
846
0.740
Why?
Developmental Disabilities
7
2024
718
0.720
Why?
Hypotrichosis
2
2024
8
0.720
Why?
Facies
7
2024
156
0.720
Why?
DNA Helicases
2
2022
229
0.720
Why?
Malformations of Cortical Development
2
2019
54
0.710
Why?
Losartan
1
2020
34
0.680
Why?
Transcription Factors
7
2025
2357
0.680
Why?
Humans
80
2025
126134
0.670
Why?
Angiotensin II Type 1 Receptor Blockers
1
2020
56
0.660
Why?
Chromosomal Proteins, Non-Histone
1
2022
205
0.660
Why?
Multiple Sulfatase Deficiency Disease
1
2020
15
0.660
Why?
Computational Biology
1
2025
840
0.660
Why?
Sulfatases
1
2020
43
0.650
Why?
Microfilament Proteins
1
2022
264
0.650
Why?
Comparative Genomic Hybridization
5
2016
561
0.650
Why?
Receptor, Notch3
1
2020
11
0.650
Why?
Meningocele
1
2020
17
0.640
Why?
Receptors, N-Methyl-D-Aspartate
4
2024
130
0.630
Why?
DNA Methylation
7
2025
1036
0.630
Why?
Adolescent
27
2025
19986
0.620
Why?
Cyclin D2
1
2019
14
0.620
Why?
Pseudogenes
1
2019
50
0.610
Why?
Polydactyly
1
2019
18
0.610
Why?
Wolman Disease
1
2019
7
0.600
Why?
Sterol Esterase
1
2019
19
0.600
Why?
Chromosomes, Human, Pair 14
1
2019
96
0.590
Why?
Micrognathism
1
2019
65
0.580
Why?
Male
46
2025
62225
0.580
Why?
Class I Phosphatidylinositol 3-Kinases
2
2022
79
0.570
Why?
Hematologic Diseases
2
2021
73
0.570
Why?
Child
35
2024
25112
0.560
Why?
Codon, Nonsense
2
2020
140
0.560
Why?
Neck
1
2019
141
0.560
Why?
Vestibular Diseases
2
2021
64
0.550
Why?
Lipoblastoma
1
2017
6
0.550
Why?
Dystonin
1
2017
1
0.550
Why?
Monosaccharide Transport Proteins
1
2017
42
0.540
Why?
Spinocerebellar Ataxias
1
2020
250
0.540
Why?
Nuclear Proteins
3
2024
1220
0.540
Why?
Female
46
2025
68037
0.540
Why?
Diet, Ketogenic
1
2017
24
0.540
Why?
Fingers
1
2017
61
0.530
Why?
Rett Syndrome
2
2020
217
0.520
Why?
Membrane Glycoproteins
1
2019
415
0.520
Why?
Monocarboxylic Acid Transporters
3
2022
34
0.520
Why?
Vascular Malformations
2
2022
107
0.510
Why?
Limb Deformities, Congenital
1
2017
109
0.510
Why?
Symporters
3
2022
72
0.500
Why?
Gait
1
2017
142
0.500
Why?
Genetic Association Studies
8
2024
808
0.500
Why?
DNA-Binding Proteins
5
2022
1901
0.490
Why?
Sleep Wake Disorders
1
2018
188
0.480
Why?
Skin Diseases
1
2017
136
0.480
Why?
Lower Extremity
1
2017
180
0.470
Why?
Retina
1
2019
484
0.470
Why?
Gene Expression
1
2019
1489
0.440
Why?
Homocystinuria
1
2014
26
0.430
Why?
Methylenetetrahydrofolate Reductase (NADPH2)
1
2014
64
0.430
Why?
Neoplasm Proteins
2
2019
666
0.430
Why?
Langer-Giedion Syndrome
1
2013
3
0.430
Why?
Muscle Spasticity
1
2014
55
0.420
Why?
Pedigree
8
2025
1655
0.420
Why?
Beckwith-Wiedemann Syndrome
1
2013
16
0.410
Why?
Infant
15
2022
12803
0.410
Why?
Nervous System Diseases
1
2017
391
0.400
Why?
Young Adult
13
2022
9635
0.400
Why?
Klippel-Trenaunay-Weber Syndrome
1
2012
7
0.390
Why?
Translocation, Genetic
2
2013
348
0.380
Why?
Lipodystrophy
1
2012
32
0.380
Why?
DNA Copy Number Variations
2
2025
1005
0.370
Why?
Genetic Predisposition to Disease
8
2021
3260
0.370
Why?
Organoids
2
2024
282
0.350
Why?
Liver
1
2019
1761
0.350
Why?
Chromosome Disorders
2
2025
315
0.340
Why?
Fibroblasts
3
2019
825
0.330
Why?
Osteochondrodysplasias
2
2021
66
0.330
Why?
Syndrome
7
2022
1114
0.320
Why?
Follow-Up Studies
6
2022
5107
0.320
Why?
Smad4 Protein
2
2022
56
0.320
Why?
Muscle Hypotonia
2
2022
187
0.310
Why?
Heterozygote
4
2021
691
0.310
Why?
Brain
5
2024
3031
0.300
Why?
Epigenesis, Genetic
5
2025
712
0.290
Why?
Surveys and Questionnaires
1
2018
3895
0.290
Why?
Seizures
3
2022
853
0.280
Why?
DEAD-box RNA Helicases
2
2019
161
0.280
Why?
Exons
4
2020
758
0.280
Why?
Saccharomyces cerevisiae
2
2021
402
0.270
Why?
Infant, Newborn
7
2021
8381
0.250
Why?
Lung
1
2014
1524
0.240
Why?
Prognosis
5
2021
4697
0.240
Why?
Zebrafish
3
2023
400
0.240
Why?
Hereditary Central Nervous System Demyelinating Diseases
1
2025
17
0.230
Why?
Hearing Loss, Sensorineural
2
2020
154
0.230
Why?
Brain Diseases
3
2024
280
0.220
Why?
Smith-Magenis Syndrome
1
2025
107
0.220
Why?
Foot Deformities, Congenital
2
2024
16
0.220
Why?
Vacuolar Proton-Translocating ATPases
1
2024
20
0.220
Why?
Autophagosomes
1
2024
27
0.220
Why?
Contracture
1
2024
27
0.220
Why?
Chromosomes, Human, Pair 9
1
2024
109
0.210
Why?
Endoplasmic Reticulum-Associated Degradation
1
2024
22
0.210
Why?
Gene Deletion
2
2025
769
0.210
Why?
Amino Acyl-tRNA Synthetases
1
2023
26
0.210
Why?
Agammaglobulinemia
1
2023
43
0.200
Why?
Neurogenesis
1
2025
206
0.200
Why?
Serine
1
2024
161
0.200
Why?
Magnetic Resonance Imaging
4
2020
3593
0.200
Why?
Histone-Lysine N-Methyltransferase
1
2024
156
0.200
Why?
RNA Helicases
2
2022
73
0.190
Why?
Haploinsufficiency
5
2024
264
0.190
Why?
Nerve Tissue Proteins
4
2024
1097
0.190
Why?
Lysosomes
1
2024
250
0.190
Why?
Landau-Kleffner Syndrome
1
2022
7
0.190
Why?
Repressor Proteins
2
2024
765
0.190
Why?
Genotype
4
2022
2604
0.190
Why?
Single-Cell Analysis
1
2025
317
0.190
Why?
Chromosome Aberrations
2
2016
569
0.180
Why?
Migraine with Aura
1
2022
15
0.180
Why?
Triiodothyronine
1
2022
54
0.180
Why?
Forkhead Transcription Factors
1
2024
364
0.180
Why?
Musculoskeletal Abnormalities
1
2022
63
0.180
Why?
Adult
10
2022
30314
0.180
Why?
Induced Pluripotent Stem Cells
1
2023
209
0.180
Why?
Neural Crest
1
2022
53
0.180
Why?
Organisms, Genetically Modified
1
2021
11
0.180
Why?
Fused Kidney
1
2021
3
0.180
Why?
Eye Abnormalities
1
2022
101
0.180
Why?
Minor Histocompatibility Antigens
1
2021
37
0.180
Why?
Muscular Atrophy
1
2022
72
0.180
Why?
Brain Diseases, Metabolic, Inborn
1
2021
22
0.170
Why?
Autistic Disorder
2
2023
362
0.170
Why?
Methyl-CpG-Binding Protein 2
1
2023
271
0.170
Why?
Breast Neoplasms
1
2013
2588
0.170
Why?
SKP Cullin F-Box Protein Ligases
1
2020
16
0.170
Why?
Histone Acetyltransferases
1
2021
224
0.170
Why?
Myoclonic Epilepsies, Progressive
1
2020
13
0.170
Why?
Cytosol
1
2021
139
0.170
Why?
Sequence Deletion
2
2014
510
0.170
Why?
Rubinstein-Taybi Syndrome
1
2020
16
0.170
Why?
Isoenzymes
1
2021
209
0.170
Why?
Nicotinamide-Nucleotide Adenylyltransferase
1
2020
14
0.170
Why?
E1A-Associated p300 Protein
1
2020
49
0.170
Why?
Inositol
1
2020
14
0.170
Why?
Agenesis of Corpus Callosum
2
2022
44
0.170
Why?
Transcription Factors, TFII
1
2020
7
0.170
Why?
Leber Congenital Amaurosis
1
2020
34
0.160
Why?
RNA-Binding Proteins
2
2021
537
0.160
Why?
Inositol 1,4,5-Trisphosphate Receptors
1
2020
33
0.160
Why?
Arnold-Chiari Malformation
1
2020
47
0.160
Why?
Adenosine Triphosphatases
1
2021
193
0.160
Why?
Ubiquitin-Conjugating Enzymes
1
2020
31
0.160
Why?
Hippocampus
1
2025
775
0.160
Why?
Loss of Function Mutation
1
2021
151
0.160
Why?
Williams Syndrome
1
2020
41
0.160
Why?
Heart Septal Defects, Ventricular
1
2021
138
0.160
Why?
Language Development Disorders
1
2021
177
0.160
Why?
Cohort Studies
4
2021
4894
0.160
Why?
Genetic Diseases, X-Linked
1
2020
78
0.160
Why?
Genetics, Population
1
2020
190
0.160
Why?
Sphingomyelin Phosphodiesterase
1
2019
42
0.150
Why?
Arthrogryposis
1
2019
36
0.150
Why?
Muscular Diseases
1
2020
117
0.150
Why?
Spine
1
2020
136
0.150
Why?
DNA-Directed RNA Polymerases
1
2019
74
0.150
Why?
Chromosomes, Human, Pair 16
1
2020
146
0.150
Why?
Homozygote
1
2021
541
0.150
Why?
Adaptor Protein Complex sigma Subunits
1
2018
2
0.150
Why?
Spasms, Infantile
1
2020
165
0.150
Why?
Folic Acid Deficiency
1
2018
47
0.150
Why?
Italy
1
2018
133
0.140
Why?
Hospitals, University
1
2018
102
0.140
Why?
Survival Rate
2
2020
2055
0.140
Why?
Severity of Illness Index
2
2018
2926
0.140
Why?
Pupil Disorders
1
2017
12
0.140
Why?
Congenital Abnormalities
1
2021
300
0.140
Why?
Sex Distribution
1
2018
306
0.140
Why?
Statistics, Nonparametric
1
2018
418
0.140
Why?
Age Distribution
1
2018
415
0.140
Why?
Carbohydrate Metabolism, Inborn Errors
1
2017
39
0.130
Why?
Diffusion Tensor Imaging
1
2019
242
0.130
Why?
Age of Onset
2
2019
609
0.130
Why?
Gain of Function Mutation
1
2017
99
0.130
Why?
Mice
5
2025
17619
0.130
Why?
Cerebellum
1
2020
415
0.130
Why?
Analysis of Variance
1
2018
950
0.130
Why?
Cytogenetic Analysis
2
2014
79
0.130
Why?
Pilot Projects
1
2020
1385
0.130
Why?
Alleles
1
2021
1611
0.130
Why?
Skin
1
2019
516
0.120
Why?
Polymicrogyria
1
2016
2
0.120
Why?
Mitochondria
1
2021
722
0.120
Why?
Pain
1
2018
429
0.120
Why?
Animals
7
2025
33230
0.120
Why?
Fatty Acids
1
2017
352
0.110
Why?
Disease Progression
1
2021
2110
0.110
Why?
Transforming Growth Factor beta2
1
2014
11
0.110
Why?
Phosphatidylinositol 3-Kinases
1
2016
329
0.110
Why?
Wolf-Hirschhorn Syndrome
1
2013
8
0.110
Why?
Charcot-Marie-Tooth Disease
1
2015
219
0.110
Why?
Metabolomics
1
2017
457
0.100
Why?
Chromosome Banding
1
2013
136
0.100
Why?
Chromosomes, Human, Pair 4
1
2013
55
0.100
Why?
Chromosome Breakage
1
2014
158
0.100
Why?
Comorbidity
1
2018
1525
0.100
Why?
Case-Control Studies
4
2021
3307
0.100
Why?
Deafness
2
2024
82
0.100
Why?
Loeys-Dietz Syndrome
1
2014
40
0.100
Why?
Hyperplasia
1
2013
188
0.100
Why?
CpG Islands
2
2025
333
0.100
Why?
Buttocks
1
2012
5
0.100
Why?
Psychotic Disorders
1
2014
150
0.100
Why?
Mental Disorders
1
2020
854
0.100
Why?
Energy Metabolism
1
2017
761
0.100
Why?
Hypoglycemia
1
2014
176
0.090
Why?
Chromosome Duplication
2
2025
146
0.090
Why?
Nephrosis
1
2012
6
0.090
Why?
Thigh
1
2012
50
0.090
Why?
Hypoparathyroidism
1
2012
11
0.090
Why?
Ehlers-Danlos Syndrome
1
2012
48
0.090
Why?
Tricuspid Valve Insufficiency
1
2012
64
0.090
Why?
In Situ Hybridization, Fluorescence
1
2013
753
0.090
Why?
Chromosomes, Human, Pair 10
1
2012
66
0.090
Why?
Fibrosis
1
2013
394
0.090
Why?
Incontinentia Pigmenti
1
2011
16
0.090
Why?
Cells, Cultured
1
2017
2906
0.090
Why?
Polymorphism, Single Nucleotide
1
2020
2752
0.090
Why?
Heterogeneous-Nuclear Ribonucleoprotein U
2
2022
8
0.090
Why?
Chromosomes, Human, Pair 21
1
2011
26
0.090
Why?
Cross-Sectional Studies
1
2020
3658
0.090
Why?
Aortic Valve Insufficiency
1
2012
141
0.090
Why?
Incidence
1
2018
3193
0.090
Why?
Gene Silencing
1
2011
224
0.080
Why?
Chromosomes, Human, X
1
2011
151
0.080
Why?
International Agencies
2
2020
29
0.080
Why?
Mitral Valve Insufficiency
1
2012
179
0.080
Why?
Myelodysplastic Syndromes
1
2011
124
0.080
Why?
Brain Neoplasms
1
2019
1218
0.080
Why?
Retrospective Studies
4
2022
16831
0.080
Why?
Risk Assessment
1
2018
3422
0.080
Why?
Gene Rearrangement
1
2011
322
0.080
Why?
Homeodomain Proteins
2
2024
540
0.070
Why?
Mitochondrial Proteins
2
2023
272
0.070
Why?
Middle Aged
4
2022
27402
0.070
Why?
Aged, 80 and over
1
2019
6582
0.070
Why?
Genetic Variation
1
2014
1521
0.070
Why?
Aged
3
2022
20078
0.070
Why?
Skin Abnormalities
2
2020
35
0.060
Why?
Electroencephalography
2
2022
845
0.060
Why?
Histocompatibility Antigens
1
2024
15
0.060
Why?
Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
1
2024
66
0.060
Why?
Brain Chemistry
1
2024
111
0.050
Why?
Prosencephalon
1
2024
36
0.050
Why?
Molecular Imaging
1
2024
61
0.050
Why?
Chromosomes, Human, Pair 17
1
2025
361
0.050
Why?
United States
1
2019
11187
0.050
Why?
POU Domain Factors
1
2023
8
0.050
Why?
Mass Spectrometry
1
2024
351
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
28
0.050
Why?
p120 GTPase Activating Protein
1
2022
5
0.050
Why?
Trans-Activators
1
2025
676
0.050
Why?
Gene Duplication
1
2023
364
0.050
Why?
Sodium-Potassium-Exchanging ATPase
1
2022
61
0.050
Why?
DNA, Mitochondrial
1
2023
232
0.040
Why?
Ubiquitin-Protein Ligases
1
2024
354
0.040
Why?
Transcriptional Elongation Factors
1
2021
24
0.040
Why?
Pregnancy
1
2014
7395
0.040
Why?
Syringomyelia
1
2020
15
0.040
Why?
Protein Stability
1
2021
161
0.040
Why?
CCCTC-Binding Factor
1
2020
18
0.040
Why?
KCNQ3 Potassium Channel
1
2020
17
0.040
Why?
GTP-Binding Proteins
1
2021
159
0.040
Why?
Epileptic Syndromes
1
2020
36
0.040
Why?
Signal Transduction
2
2024
4472
0.040
Why?
NAD
1
2020
50
0.040
Why?
GTP-Binding Protein alpha Subunits, Gi-Go
1
2020
19
0.040
Why?
Cleavage And Polyadenylation Specificity Factor
1
2020
14
0.040
Why?
Chromosomes, Human, Pair 7
1
2020
75
0.040
Why?
Frameshift Mutation
1
2020
192
0.040
Why?
Heart Diseases
1
2024
485
0.040
Why?
Retinal Degeneration
1
2020
101
0.040
Why?
Gene Frequency
1
2021
739
0.040
Why?
Mitosis
1
2019
191
0.040
Why?
DNA Mutational Analysis
1
2020
780
0.040
Why?
Endoplasmic Reticulum
1
2019
200
0.040
Why?
Proteins
1
2024
1020
0.040
Why?
RNA Splicing
1
2019
231
0.040
Why?
Urogenital Abnormalities
1
2020
160
0.040
Why?
Transcription, Genetic
1
2023
1381
0.030
Why?
Cell Lineage
1
2019
325
0.030
Why?
Models, Molecular
1
2021
1067
0.030
Why?
HeLa Cells
1
2019
690
0.030
Why?
Diagnosis, Differential
2
2013
1823
0.030
Why?
Evolution, Molecular
1
2021
686
0.030
Why?
Treatment Outcome
2
2024
12393
0.030
Why?
Reproducibility of Results
1
2024
2877
0.030
Why?
Drug Resistant Epilepsy
1
2020
249
0.030
Why?
Family
1
2020
576
0.030
Why?
HEK293 Cells
1
2019
770
0.030
Why?
Amino Acid Sequence
1
2021
2555
0.030
Why?
DNA
1
2022
1430
0.030
Why?
Cell Differentiation
1
2023
1852
0.030
Why?
Mice, Knockout
1
2024
3716
0.030
Why?
Neurologic Examination
1
2015
191
0.030
Why?
High-Throughput Nucleotide Sequencing
1
2020
911
0.030
Why?
GTP Phosphohydrolases
1
2015
156
0.030
Why?
Quality of Life
1
2024
2014
0.030
Why?
Collagen Type I
1
2012
115
0.020
Why?
Gene Expression Profiling
1
2019
1783
0.020
Why?
Joint Instability
1
2012
57
0.020
Why?
GATA3 Transcription Factor
1
2012
41
0.020
Why?
I-kappa B Kinase
1
2011
56
0.020
Why?
Monosomy
1
2011
25
0.020
Why?
DiGeorge Syndrome
1
2012
80
0.020
Why?
Core Binding Factor Alpha 2 Subunit
1
2011
38
0.020
Why?
Trisomy
1
2011
107
0.020
Why?
Disease Models, Animal
1
2020
4433
0.020
Why?
Enzyme Inhibitors
1
2012
566
0.020
Why?
Histones
1
2011
507
0.020
Why?
RNA, Messenger
1
2011
2552
0.010
Why?
Obesity
1
2013
2328
0.010
Why?
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