Gerarda Cappuccio

Concepts (346)

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
1056
4.920
Why?
Phenotype
41
2025
4263
2.600
Why?
Abnormalities, Multiple
9
2022
960
2.340
Why?
Neurodevelopmental Disorders
16
2024
503
2.100
Why?
Hand Deformities, Congenital
4
2022
88
1.580
Why?
Microcephaly
4
2022
331
1.540
Why?
Mutation
26
2024
5848
1.420
Why?
Autism Spectrum Disorder
5
2024
390
1.410
Why?
Mutation, Missense
14
2025
875
1.350
Why?
Face
4
2021
179
1.170
Why?
Growth Disorders
4
2022
209
1.080
Why?
Cryptorchidism
3
2022
37
1.040
Why?
Nervous System Malformations
3
2022
130
1.000
Why?
Hydrocephalus
2
2019
242
0.990
Why?
Lysine-tRNA Ligase
2
2023
4
0.960
Why?
Blepharophimosis
2
2024
26
0.920
Why?
Chromosome Deletion
4
2024
647
0.910
Why?
Epilepsy
8
2024
874
0.900
Why?
Craniofacial Abnormalities
6
2024
240
0.840
Why?
Child, Preschool
34
2025
14004
0.830
Why?
Tetralogy of Fallot
2
2022
163
0.800
Why?
Intestinal Atresia
1
2022
19
0.780
Why?
Monocarboxylic Acid Transporters
4
2025
31
0.780
Why?
Heart Defects, Congenital
5
2024
1823
0.770
Why?
Hypotrichosis
2
2024
8
0.750
Why?
Symporters
4
2025
69
0.750
Why?
Developmental Disabilities
7
2024
711
0.750
Why?
Facies
7
2024
153
0.750
Why?
DNA Helicases
2
2022
231
0.740
Why?
Malformations of Cortical Development
2
2019
52
0.740
Why?
Losartan
1
2020
36
0.710
Why?
Chromosomal Proteins, Non-Histone
1
2022
209
0.700
Why?
Angiotensin II Type 1 Receptor Blockers
1
2020
56
0.690
Why?
Multiple Sulfatase Deficiency Disease
1
2020
15
0.690
Why?
Humans
81
2025
125085
0.690
Why?
Sulfatases
1
2020
44
0.680
Why?
Receptor, Notch3
1
2020
11
0.680
Why?
Microfilament Proteins
1
2022
276
0.680
Why?
Comparative Genomic Hybridization
5
2016
572
0.680
Why?
Adolescent
28
2024
19349
0.670
Why?
Meningocele
1
2020
19
0.670
Why?
Transcription Factors
6
2024
2588
0.650
Why?
Receptors, N-Methyl-D-Aspartate
4
2024
148
0.650
Why?
Genetic Association Studies
9
2024
779
0.650
Why?
DNA Methylation
7
2024
1008
0.650
Why?
Cyclin D2
1
2019
14
0.640
Why?
Pseudogenes
1
2019
53
0.640
Why?
Polydactyly
1
2019
17
0.640
Why?
Wolman Disease
1
2019
7
0.630
Why?
Sterol Esterase
1
2019
19
0.630
Why?
Child
38
2025
24384
0.630
Why?
Male
47
2025
61465
0.620
Why?
Chromosomes, Human, Pair 14
1
2019
101
0.620
Why?
Micrognathism
1
2019
65
0.610
Why?
Class I Phosphatidylinositol 3-Kinases
2
2022
74
0.600
Why?
Neck
1
2019
135
0.590
Why?
Codon, Nonsense
2
2020
131
0.580
Why?
Hematologic Diseases
2
2021
79
0.580
Why?
Female
47
2025
66744
0.580
Why?
Vestibular Diseases
2
2021
67
0.570
Why?
Lipoblastoma
1
2017
6
0.570
Why?
Dystonin
1
2017
1
0.570
Why?
Monosaccharide Transport Proteins
1
2017
41
0.570
Why?
Spinocerebellar Ataxias
1
2020
252
0.560
Why?
Diet, Ketogenic
1
2017
22
0.560
Why?
Nuclear Proteins
3
2024
1265
0.560
Why?
Fingers
1
2017
65
0.550
Why?
Vascular Malformations
2
2022
88
0.540
Why?
Membrane Glycoproteins
1
2019
411
0.540
Why?
Limb Deformities, Congenital
1
2017
106
0.530
Why?
DNA-Binding Proteins
6
2024
2047
0.530
Why?
Gait
1
2017
146
0.520
Why?
Sleep Wake Disorders
1
2018
167
0.520
Why?
Rett Syndrome
2
2020
291
0.520
Why?
DNA Copy Number Variations
2
2024
950
0.510
Why?
Skin Diseases
1
2017
130
0.500
Why?
Retina
1
2019
450
0.500
Why?
Lower Extremity
1
2017
187
0.490
Why?
Infant
17
2024
12475
0.470
Why?
Gene Expression
1
2019
1561
0.450
Why?
Homocystinuria
1
2014
24
0.450
Why?
Methylenetetrahydrofolate Reductase (NADPH2)
1
2014
70
0.450
Why?
Langer-Giedion Syndrome
1
2013
3
0.440
Why?
Neoplasm Proteins
2
2019
670
0.440
Why?
Muscle Spasticity
1
2014
73
0.440
Why?
Pedigree
8
2025
1605
0.440
Why?
Young Adult
14
2022
9052
0.440
Why?
Beckwith-Wiedemann Syndrome
1
2013
16
0.430
Why?
Nervous System Diseases
1
2017
375
0.420
Why?
Hereditary Central Nervous System Demyelinating Diseases
2
2025
18
0.410
Why?
Muscular Atrophy
2
2025
75
0.410
Why?
Klippel-Trenaunay-Weber Syndrome
1
2012
8
0.400
Why?
Lipodystrophy
1
2012
33
0.400
Why?
Translocation, Genetic
2
2013
358
0.390
Why?
Genetic Predisposition to Disease
8
2021
3156
0.390
Why?
Biomarkers
2
2020
3081
0.390
Why?
Muscle Hypotonia
3
2025
187
0.380
Why?
Liver
1
2019
1743
0.380
Why?
Organoids
2
2024
281
0.370
Why?
Osteochondrodysplasias
2
2021
66
0.340
Why?
Fibroblasts
3
2019
879
0.330
Why?
Follow-Up Studies
6
2022
5174
0.330
Why?
Syndrome
7
2022
1120
0.330
Why?
Smad4 Protein
2
2022
57
0.330
Why?
Heterozygote
4
2021
671
0.320
Why?
Brain
5
2024
2998
0.310
Why?
Surveys and Questionnaires
1
2018
3728
0.300
Why?
DEAD-box RNA Helicases
2
2019
121
0.300
Why?
Seizures
3
2022
870
0.290
Why?
Exons
4
2020
798
0.290
Why?
Saccharomyces cerevisiae
2
2021
426
0.280
Why?
Infant, Newborn
7
2021
8205
0.270
Why?
Epigenesis, Genetic
4
2022
676
0.270
Why?
Lung
1
2014
1498
0.250
Why?
Prognosis
5
2021
4637
0.250
Why?
Zebrafish
3
2023
379
0.250
Why?
Hearing Loss, Sensorineural
2
2020
142
0.240
Why?
Foot Deformities, Congenital
2
2024
16
0.230
Why?
Autophagosomes
1
2024
24
0.230
Why?
Magnetic Resonance Imaging
5
2020
3570
0.230
Why?
Brain Diseases
3
2024
300
0.230
Why?
Vacuolar Proton-Translocating ATPases
1
2024
22
0.230
Why?
Contracture
1
2024
24
0.230
Why?
Loss of Function Mutation
2
2025
149
0.220
Why?
Chromosomes, Human, Pair 9
1
2024
106
0.220
Why?
Endoplasmic Reticulum-Associated Degradation
1
2024
22
0.220
Why?
Amino Acyl-tRNA Synthetases
1
2023
26
0.210
Why?
Agammaglobulinemia
1
2023
40
0.210
Why?
Gene Deletion
2
2025
788
0.210
Why?
Serine
1
2024
175
0.210
Why?
Histone-Lysine N-Methyltransferase
1
2024
156
0.210
Why?
Haploinsufficiency
5
2024
258
0.200
Why?
RNA Helicases
2
2022
63
0.200
Why?
Adult
11
2022
29628
0.200
Why?
Lysosomes
1
2024
237
0.200
Why?
Landau-Kleffner Syndrome
1
2022
7
0.200
Why?
Genotype
4
2022
2562
0.200
Why?
Triiodothyronine
1
2022
62
0.190
Why?
Repressor Proteins
2
2024
813
0.190
Why?
Migraine with Aura
1
2022
16
0.190
Why?
Forkhead Transcription Factors
1
2024
355
0.190
Why?
Chromosome Aberrations
2
2016
613
0.190
Why?
Induced Pluripotent Stem Cells
1
2023
194
0.190
Why?
Musculoskeletal Abnormalities
1
2022
71
0.190
Why?
Minor Histocompatibility Antigens
1
2021
36
0.190
Why?
Neural Crest
1
2022
56
0.190
Why?
Organisms, Genetically Modified
1
2021
11
0.190
Why?
Fused Kidney
1
2021
3
0.190
Why?
Autistic Disorder
2
2023
350
0.180
Why?
Breast Neoplasms
1
2013
2512
0.180
Why?
Eye Abnormalities
1
2022
104
0.180
Why?
Brain Diseases, Metabolic, Inborn
1
2021
22
0.180
Why?
Mental Retardation, X-Linked
1
2022
71
0.180
Why?
SKP Cullin F-Box Protein Ligases
1
2020
19
0.180
Why?
Methyl-CpG-Binding Protein 2
1
2023
309
0.180
Why?
Myoclonic Epilepsies, Progressive
1
2020
13
0.180
Why?
Cytosol
1
2021
162
0.180
Why?
Sequence Deletion
2
2014
525
0.180
Why?
Rubinstein-Taybi Syndrome
1
2020
16
0.180
Why?
Histone Acetyltransferases
1
2021
314
0.170
Why?
Nicotinamide-Nucleotide Adenylyltransferase
1
2020
13
0.170
Why?
Inositol
1
2020
13
0.170
Why?
Isoenzymes
1
2021
231
0.170
Why?
Age of Onset
3
2019
592
0.170
Why?
Transcription Factors, TFII
1
2020
7
0.170
Why?
Agenesis of Corpus Callosum
2
2022
42
0.170
Why?
E1A-Associated p300 Protein
1
2020
53
0.170
Why?
Severity of Illness Index
3
2019
2905
0.170
Why?
Leber Congenital Amaurosis
1
2020
29
0.170
Why?
Inositol 1,4,5-Trisphosphate Receptors
1
2020
34
0.170
Why?
Adenosine Triphosphatases
1
2021
201
0.170
Why?
Ubiquitin-Conjugating Enzymes
1
2020
38
0.170
Why?
Arnold-Chiari Malformation
1
2020
49
0.170
Why?
Heart Septal Defects, Ventricular
1
2021
133
0.170
Why?
Williams Syndrome
1
2020
40
0.170
Why?
RNA-Binding Proteins
2
2021
573
0.170
Why?
Genetic Diseases, X-Linked
1
2020
64
0.170
Why?
Arginine-tRNA Ligase
1
2019
9
0.170
Why?
Genetics, Population
1
2020
188
0.160
Why?
Language Development Disorders
1
2021
174
0.160
Why?
Cohort Studies
4
2021
4814
0.160
Why?
Muscular Diseases
1
2020
103
0.160
Why?
Sphingomyelin Phosphodiesterase
1
2019
41
0.160
Why?
Arthrogryposis
1
2019
35
0.160
Why?
Spine
1
2020
142
0.160
Why?
Homozygote
1
2021
547
0.160
Why?
Chromosomes, Human, Pair 16
1
2020
150
0.160
Why?
DNA-Directed RNA Polymerases
1
2019
121
0.160
Why?
Adaptor Protein Complex sigma Subunits
1
2018
2
0.160
Why?
Spasms, Infantile
1
2020
171
0.150
Why?
Italy
1
2018
100
0.150
Why?
Folic Acid Deficiency
1
2018
53
0.150
Why?
Hospitals, University
1
2018
97
0.150
Why?
Congenital Abnormalities
1
2021
255
0.150
Why?
Survival Rate
2
2020
2061
0.150
Why?
Pupil Disorders
1
2017
19
0.140
Why?
Sex Distribution
1
2018
306
0.140
Why?
Chromosome Disorders
1
2020
311
0.140
Why?
Statistics, Nonparametric
1
2018
435
0.140
Why?
Age Distribution
1
2018
417
0.140
Why?
Carbohydrate Metabolism, Inborn Errors
1
2017
36
0.140
Why?
Diffusion Tensor Imaging
1
2019
234
0.140
Why?
Gain of Function Mutation
1
2017
106
0.130
Why?
Cytogenetic Analysis
2
2014
80
0.130
Why?
Cerebellum
1
2020
415
0.130
Why?
Analysis of Variance
1
2018
1020
0.130
Why?
Pilot Projects
1
2020
1398
0.130
Why?
Alleles
1
2021
1616
0.130
Why?
Polymicrogyria
1
2016
2
0.130
Why?
Nerve Tissue Proteins
2
2024
1112
0.130
Why?
Mitochondria
1
2021
680
0.130
Why?
Skin
1
2019
518
0.130
Why?
Pain
1
2018
450
0.120
Why?
Fatty Acids
1
2017
343
0.120
Why?
Disease Progression
1
2021
2062
0.120
Why?
Cross-Sectional Studies
2
2020
3423
0.120
Why?
Charcot-Marie-Tooth Disease
1
2015
199
0.110
Why?
Transforming Growth Factor beta2
1
2014
8
0.110
Why?
Phosphatidylinositol 3-Kinases
1
2016
335
0.110
Why?
Wolf-Hirschhorn Syndrome
1
2013
8
0.110
Why?
Metabolomics
1
2017
423
0.110
Why?
Chromosome Banding
1
2013
138
0.110
Why?
Chromosomes, Human, Pair 4
1
2013
57
0.110
Why?
Case-Control Studies
4
2021
3298
0.110
Why?
Chromosome Breakage
1
2014
167
0.110
Why?
Comorbidity
1
2018
1533
0.110
Why?
Deafness
2
2024
82
0.110
Why?
Loeys-Dietz Syndrome
1
2014
39
0.110
Why?
Hyperplasia
1
2013
208
0.100
Why?
Mental Disorders
1
2020
826
0.100
Why?
Psychotic Disorders
1
2014
138
0.100
Why?
Buttocks
1
2012
6
0.100
Why?
Energy Metabolism
1
2017
766
0.100
Why?
Nephrosis
1
2012
4
0.100
Why?
Thigh
1
2012
51
0.100
Why?
Hypoglycemia
1
2014
189
0.100
Why?
Hypoparathyroidism
1
2012
10
0.100
Why?
Ehlers-Danlos Syndrome
1
2012
46
0.100
Why?
Tricuspid Valve Insufficiency
1
2012
62
0.100
Why?
In Situ Hybridization, Fluorescence
1
2013
763
0.100
Why?
Chromosomes, Human, Pair 10
1
2012
64
0.100
Why?
Polymorphism, Single Nucleotide
1
2020
2634
0.100
Why?
Incontinentia Pigmenti
1
2011
16
0.100
Why?
Fibrosis
1
2013
434
0.090
Why?
Cells, Cultured
1
2017
3054
0.090
Why?
Heterogeneous-Nuclear Ribonucleoprotein U
2
2022
7
0.090
Why?
Chromosomes, Human, Pair 21
1
2011
40
0.090
Why?
Aortic Valve Insufficiency
1
2012
141
0.090
Why?
Incidence
1
2018
3141
0.090
Why?
Mitral Valve Insufficiency
1
2012
160
0.090
Why?
Gene Silencing
1
2011
235
0.090
Why?
Chromosomes, Human, X
1
2011
157
0.090
Why?
International Agencies
2
2020
29
0.090
Why?
Retrospective Studies
4
2022
16326
0.080
Why?
Myelodysplastic Syndromes
1
2011
140
0.080
Why?
Brain Neoplasms
1
2019
1214
0.080
Why?
Gene Rearrangement
1
2011
320
0.080
Why?
Risk Assessment
1
2018
3456
0.080
Why?
Homeodomain Proteins
2
2024
548
0.080
Why?
Mitochondrial Proteins
2
2023
228
0.070
Why?
Middle Aged
4
2022
26919
0.070
Why?
Aged, 80 and over
1
2019
6596
0.070
Why?
Genetic Variation
1
2014
1501
0.070
Why?
Aged
3
2022
19859
0.070
Why?
Skin Abnormalities
2
2020
33
0.070
Why?
Animals
6
2024
34219
0.070
Why?
Electroencephalography
2
2022
865
0.070
Why?
Mice
4
2024
17634
0.060
Why?
Thyroid Hormones
1
2025
67
0.060
Why?
Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
1
2024
60
0.060
Why?
Histocompatibility Antigens
1
2024
19
0.060
Why?
Brain Chemistry
1
2024
125
0.060
Why?
Prosencephalon
1
2024
39
0.060
Why?
Molecular Imaging
1
2024
63
0.060
Why?
United States
1
2019
10913
0.050
Why?
POU Domain Factors
1
2023
10
0.050
Why?
Mass Spectrometry
1
2024
330
0.050
Why?
DNA, Intergenic
1
2022
17
0.050
Why?
RNA Recognition Motif Proteins
1
2022
16
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
362
0.050
Why?
DNA, Mitochondrial
1
2023
211
0.050
Why?
Sodium-Potassium-Exchanging ATPase
1
2022
102
0.050
Why?
CpG Islands
1
2022
324
0.050
Why?
Transcriptional Elongation Factors
1
2021
25
0.050
Why?
Ubiquitin-Protein Ligases
1
2024
356
0.050
Why?
Pregnancy
1
2014
7193
0.050
Why?
Syringomyelia
1
2020
16
0.040
Why?
CCCTC-Binding Factor
1
2020
18
0.040
Why?
Protein Stability
1
2021
161
0.040
Why?
KCNQ3 Potassium Channel
1
2020
19
0.040
Why?
GTP-Binding Proteins
1
2021
179
0.040
Why?
Epileptic Syndromes
1
2020
29
0.040
Why?
NAD
1
2020
45
0.040
Why?
Signal Transduction
2
2024
4534
0.040
Why?
GTP-Binding Protein alpha Subunits, Gi-Go
1
2020
17
0.040
Why?
Cleavage And Polyadenylation Specificity Factor
1
2020
15
0.040
Why?
Frameshift Mutation
1
2020
180
0.040
Why?
Chromosomes, Human, Pair 7
1
2020
73
0.040
Why?
Heart Diseases
1
2024
493
0.040
Why?
Retinal Degeneration
1
2020
93
0.040
Why?
Gene Frequency
1
2021
724
0.040
Why?
Chromosome Duplication
1
2020
147
0.040
Why?
Mitosis
1
2019
237
0.040
Why?
Endoplasmic Reticulum
1
2019
217
0.040
Why?
DNA Mutational Analysis
1
2020
794
0.040
Why?
Proteins
1
2024
1036
0.040
Why?
RNA Splicing
1
2019
226
0.040
Why?
Urogenital Abnormalities
1
2020
154
0.040
Why?
Basic Helix-Loop-Helix Transcription Factors
1
2020
388
0.040
Why?
Genetic Testing
1
2024
1002
0.040
Why?
Drug Resistant Epilepsy
1
2020
206
0.040
Why?
Evolution, Molecular
1
2021
668
0.040
Why?
Cell Lineage
1
2019
346
0.040
Why?
Models, Molecular
1
2021
1080
0.040
Why?
HeLa Cells
1
2019
806
0.040
Why?
Diagnosis, Differential
2
2013
1894
0.040
Why?
Transcription, Genetic
1
2023
1701
0.040
Why?
Reproducibility of Results
1
2024
2890
0.030
Why?
Treatment Outcome
2
2024
12388
0.030
Why?
Family
1
2020
567
0.030
Why?
Genomics
1
2025
1502
0.030
Why?
HEK293 Cells
1
2019
735
0.030
Why?
DNA
1
2022
1611
0.030
Why?
Amino Acid Sequence
1
2021
2715
0.030
Why?
Cell Differentiation
1
2023
1896
0.030
Why?
Mice, Knockout
1
2024
3745
0.030
Why?
Neurologic Examination
1
2015
193
0.030
Why?
High-Throughput Nucleotide Sequencing
1
2020
881
0.030
Why?
GTP Phosphohydrolases
1
2015
147
0.030
Why?
Quality of Life
1
2024
1939
0.030
Why?
Gene Expression Profiling
1
2019
1710
0.020
Why?
Joint Instability
1
2012
42
0.020
Why?
Collagen Type I
1
2012
111
0.020
Why?
GATA3 Transcription Factor
1
2012
35
0.020
Why?
I-kappa B Kinase
1
2011
61
0.020
Why?
Monosomy
1
2011
24
0.020
Why?
DiGeorge Syndrome
1
2012
79
0.020
Why?
Core Binding Factor Alpha 2 Subunit
1
2011
39
0.020
Why?
Trisomy
1
2011
101
0.020
Why?
Disease Models, Animal
1
2020
4392
0.020
Why?
Enzyme Inhibitors
1
2012
581
0.020
Why?
Histones
1
2011
523
0.020
Why?
RNA, Messenger
1
2011
2821
0.010
Why?
Obesity
1
2013
2247
0.010
Why?
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