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
1084
4.820
Why?
Phenotype
42
2025
4570
2.520
Why?
Abnormalities, Multiple
9
2022
977
2.300
Why?
Neurodevelopmental Disorders
16
2024
538
2.020
Why?
Hand Deformities, Congenital
4
2022
95
1.540
Why?
Microcephaly
4
2022
352
1.510
Why?
Autism Spectrum Disorder
5
2024
428
1.360
Why?
Mutation, Missense
15
2025
940
1.350
Why?
Mutation
26
2024
6316
1.340
Why?
Face
4
2021
189
1.140
Why?
Growth Disorders
4
2022
224
1.060
Why?
Cryptorchidism
3
2022
38
1.020
Why?
Nervous System Malformations
3
2022
132
0.980
Why?
Hydrocephalus
2
2019
276
0.950
Why?
Lysine-tRNA Ligase
2
2023
5
0.940
Why?
Blepharophimosis
2
2024
26
0.900
Why?
Chromosome Deletion
4
2024
666
0.890
Why?
Epilepsy
8
2024
895
0.870
Why?
Microfilament Proteins
2
2025
289
0.870
Why?
Neural Stem Cells
1
2025
152
0.860
Why?
Biomarkers
3
2025
3434
0.850
Why?
Craniofacial Abnormalities
6
2024
251
0.810
Why?
Child, Preschool
35
2025
14867
0.810
Why?
Genetic Association Studies
10
2025
854
0.810
Why?
Tetralogy of Fallot
2
2022
166
0.790
Why?
Intestinal Atresia
1
2022
20
0.770
Why?
Monocarboxylic Acid Transporters
4
2025
40
0.760
Why?
Heart Defects, Congenital
5
2024
1879
0.750
Why?
Hypotrichosis
2
2024
8
0.740
Why?
Facies
7
2024
154
0.730
Why?
Developmental Disabilities
7
2024
736
0.730
Why?
Symporters
4
2025
78
0.730
Why?
Malformations of Cortical Development
2
2019
54
0.730
Why?
DNA Helicases
2
2022
253
0.720
Why?
Losartan
1
2020
36
0.690
Why?
Chromosomal Proteins, Non-Histone
1
2022
207
0.680
Why?
Humans
83
2025
134083
0.680
Why?
Angiotensin II Type 1 Receptor Blockers
1
2020
57
0.680
Why?
Multiple Sulfatase Deficiency Disease
1
2020
15
0.680
Why?
Adolescent
30
2025
20609
0.670
Why?
Sulfatases
1
2020
44
0.670
Why?
Receptor, Notch3
1
2020
12
0.670
Why?
Comparative Genomic Hybridization
5
2016
577
0.660
Why?
Computational Biology
1
2025
888
0.660
Why?
Meningocele
1
2020
18
0.660
Why?
Receptors, N-Methyl-D-Aspartate
4
2024
152
0.630
Why?
Cyclin D2
1
2019
15
0.630
Why?
Transcription Factors
6
2024
2730
0.630
Why?
Pseudogenes
1
2019
53
0.630
Why?
Polydactyly
1
2019
17
0.620
Why?
Wolman Disease
1
2019
7
0.620
Why?
Sterol Esterase
1
2019
20
0.620
Why?
DNA Methylation
7
2024
1147
0.610
Why?
Chromosomes, Human, Pair 14
1
2019
102
0.600
Why?
Child
38
2025
25870
0.600
Why?
Micrognathism
1
2019
68
0.600
Why?
Male
48
2025
66092
0.590
Why?
Class I Phosphatidylinositol 3-Kinases
2
2022
81
0.580
Why?
Codon, Nonsense
2
2020
140
0.570
Why?
Hematologic Diseases
2
2021
82
0.570
Why?
Neck
1
2019
143
0.570
Why?
Vestibular Diseases
2
2021
68
0.560
Why?
Lipoblastoma
1
2017
6
0.560
Why?
Dystonin
1
2017
1
0.560
Why?
Monosaccharide Transport Proteins
1
2017
43
0.560
Why?
Female
48
2025
71892
0.550
Why?
Spinocerebellar Ataxias
1
2020
254
0.550
Why?
Diet, Ketogenic
1
2017
24
0.550
Why?
Fingers
1
2017
68
0.540
Why?
Nuclear Proteins
3
2024
1347
0.530
Why?
Membrane Glycoproteins
1
2019
433
0.530
Why?
Vascular Malformations
2
2022
111
0.520
Why?
Limb Deformities, Congenital
1
2017
110
0.520
Why?
Gait
1
2017
141
0.510
Why?
Rett Syndrome
2
2020
294
0.510
Why?
DNA-Binding Proteins
6
2024
2175
0.500
Why?
Sleep Wake Disorders
1
2018
187
0.500
Why?
DNA Copy Number Variations
2
2024
1025
0.490
Why?
Skin Diseases
1
2017
135
0.490
Why?
Lower Extremity
1
2017
188
0.480
Why?
Retina
1
2019
502
0.470
Why?
Pedigree
9
2025
1712
0.470
Why?
Infant
18
2025
13230
0.470
Why?
Gene Expression
1
2019
1621
0.440
Why?
Homocystinuria
1
2014
27
0.440
Why?
Methylenetetrahydrofolate Reductase (NADPH2)
1
2014
71
0.440
Why?
Langer-Giedion Syndrome
1
2013
3
0.440
Why?
Muscle Spasticity
1
2014
61
0.430
Why?
Neoplasm Proteins
2
2019
718
0.430
Why?
Beckwith-Wiedemann Syndrome
1
2013
16
0.420
Why?
Young Adult
14
2022
9935
0.410
Why?
Nervous System Diseases
1
2017
410
0.400
Why?
Hereditary Central Nervous System Demyelinating Diseases
2
2025
19
0.400
Why?
Klippel-Trenaunay-Weber Syndrome
1
2012
8
0.400
Why?
Muscular Atrophy
2
2025
90
0.390
Why?
Translocation, Genetic
2
2013
363
0.390
Why?
Lipodystrophy
1
2012
34
0.390
Why?
Genetic Predisposition to Disease
8
2021
3495
0.370
Why?
Muscle Hypotonia
3
2025
197
0.370
Why?
Heterozygote
5
2025
724
0.360
Why?
Liver
1
2019
1879
0.360
Why?
Organoids
2
2024
299
0.350
Why?
Osteochondrodysplasias
2
2021
67
0.340
Why?
Smad4 Protein
2
2022
58
0.320
Why?
Fibroblasts
3
2019
926
0.320
Why?
Brain
6
2025
3223
0.320
Why?
Syndrome
7
2022
1161
0.320
Why?
Follow-Up Studies
6
2022
5477
0.320
Why?
Surveys and Questionnaires
1
2018
3999
0.290
Why?
DEAD-box RNA Helicases
2
2019
149
0.290
Why?
Seizures
3
2022
890
0.280
Why?
Exons
4
2020
837
0.280
Why?
Saccharomyces cerevisiae
2
2021
440
0.270
Why?
Infant, Newborn
7
2021
8617
0.260
Why?
Epigenesis, Genetic
4
2022
773
0.250
Why?
Lung
1
2014
1576
0.250
Why?
Zebrafish
3
2023
420
0.240
Why?
Prognosis
5
2021
5086
0.240
Why?
Hearing Loss, Sensorineural
2
2020
159
0.230
Why?
Foot Deformities, Congenital
2
2024
16
0.230
Why?
Genotype
5
2025
2811
0.230
Why?
Autophagosomes
1
2024
30
0.230
Why?
Vacuolar Proton-Translocating ATPases
1
2024
23
0.220
Why?
Brain Diseases
3
2024
310
0.220
Why?
Contracture
1
2024
26
0.220
Why?
Magnetic Resonance Imaging
5
2020
3855
0.220
Why?
Loss of Function Mutation
2
2025
161
0.220
Why?
Chromosomes, Human, Pair 9
1
2024
115
0.220
Why?
Endoplasmic Reticulum-Associated Degradation
1
2024
21
0.220
Why?
Amino Acyl-tRNA Synthetases
1
2023
26
0.210
Why?
Gene Deletion
2
2025
810
0.210
Why?
Agammaglobulinemia
1
2023
43
0.210
Why?
Neurogenesis
1
2025
223
0.210
Why?
Serine
1
2024
185
0.210
Why?
Adult
12
2025
31930
0.200
Why?
Histone-Lysine N-Methyltransferase
1
2024
176
0.200
Why?
Haploinsufficiency
5
2024
274
0.200
Why?
RNA Helicases
2
2022
73
0.200
Why?
Lysosomes
1
2024
265
0.190
Why?
Landau-Kleffner Syndrome
1
2022
7
0.190
Why?
Migraine with Aura
1
2022
16
0.190
Why?
Single-Cell Analysis
1
2025
358
0.190
Why?
Triiodothyronine
1
2022
73
0.190
Why?
Chromosome Aberrations
2
2016
627
0.190
Why?
Forkhead Transcription Factors
1
2024
390
0.190
Why?
Repressor Proteins
2
2024
872
0.180
Why?
Musculoskeletal Abnormalities
1
2022
71
0.180
Why?
Neural Crest
1
2022
56
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
102
0.180
Why?
Induced Pluripotent Stem Cells
1
2023
232
0.180
Why?
Brain Diseases, Metabolic, Inborn
1
2021
22
0.180
Why?
Autistic Disorder
2
2023
373
0.180
Why?
Trans-Activators
1
2025
839
0.180
Why?
SKP Cullin F-Box Protein Ligases
1
2020
21
0.180
Why?
Methyl-CpG-Binding Protein 2
1
2023
312
0.170
Why?
Myoclonic Epilepsies, Progressive
1
2020
13
0.170
Why?
Cytosol
1
2021
169
0.170
Why?
Sequence Deletion
2
2014
538
0.170
Why?
Rubinstein-Taybi Syndrome
1
2020
17
0.170
Why?
Breast Neoplasms
1
2013
2771
0.170
Why?
Histone Acetyltransferases
1
2021
319
0.170
Why?
Isoenzymes
1
2021
231
0.170
Why?
Inositol
1
2020
14
0.170
Why?
Nicotinamide-Nucleotide Adenylyltransferase
1
2020
14
0.170
Why?
Transcription Factors, TFII
1
2020
7
0.170
Why?
Agenesis of Corpus Callosum
2
2022
44
0.170
Why?
Age of Onset
3
2019
637
0.170
Why?
E1A-Associated p300 Protein
1
2020
58
0.170
Why?
Alleles
2
2025
1716
0.170
Why?
Inositol 1,4,5-Trisphosphate Receptors
1
2020
34
0.170
Why?
Leber Congenital Amaurosis
1
2020
34
0.170
Why?
Heart Septal Defects, Ventricular
1
2021
134
0.170
Why?
Adenosine Triphosphatases
1
2021
214
0.170
Why?
Ubiquitin-Conjugating Enzymes
1
2020
42
0.170
Why?
Arnold-Chiari Malformation
1
2020
51
0.160
Why?
Severity of Illness Index
3
2019
3114
0.160
Why?
Williams Syndrome
1
2020
42
0.160
Why?
Arginine-tRNA Ligase
1
2019
9
0.160
Why?
Language Development Disorders
1
2021
179
0.160
Why?
Genetic Diseases, X-Linked
1
2020
79
0.160
Why?
Genetics, Population
1
2020
198
0.160
Why?
RNA-Binding Proteins
2
2021
621
0.160
Why?
Hippocampus
1
2025
863
0.160
Why?
Sphingomyelin Phosphodiesterase
1
2019
43
0.160
Why?
Muscular Diseases
1
2020
115
0.160
Why?
Arthrogryposis
1
2019
40
0.160
Why?
Cohort Studies
4
2021
5217
0.160
Why?
Spine
1
2020
147
0.160
Why?
Chromosomes, Human, Pair 16
1
2020
149
0.160
Why?
Homozygote
1
2021
565
0.160
Why?
DNA-Directed RNA Polymerases
1
2019
120
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
55
0.150
Why?
Italy
1
2018
130
0.150
Why?
Hospitals, University
1
2018
106
0.150
Why?
Survival Rate
2
2020
2218
0.140
Why?
Congenital Abnormalities
1
2021
295
0.140
Why?
Pupil Disorders
1
2017
19
0.140
Why?
Chromosome Disorders
1
2020
315
0.140
Why?
Sex Distribution
1
2018
331
0.140
Why?
Statistics, Nonparametric
1
2018
454
0.140
Why?
Age Distribution
1
2018
444
0.140
Why?
Carbohydrate Metabolism, Inborn Errors
1
2017
39
0.140
Why?
Diffusion Tensor Imaging
1
2019
251
0.140
Why?
Gain of Function Mutation
1
2017
115
0.130
Why?
Cytogenetic Analysis
2
2014
82
0.130
Why?
Analysis of Variance
1
2018
1044
0.130
Why?
Polymicrogyria
1
2016
2
0.130
Why?
Mice
5
2025
19047
0.130
Why?
Cerebellum
1
2020
465
0.130
Why?
Pilot Projects
1
2020
1492
0.130
Why?
Nerve Tissue Proteins
2
2024
1165
0.130
Why?
Skin
1
2019
545
0.120
Why?
Mitochondria
1
2021
756
0.120
Why?
Pain
1
2018
476
0.120
Why?
Fatty Acids
1
2017
372
0.120
Why?
Animals
7
2025
36545
0.120
Why?
Disease Progression
1
2021
2266
0.110
Why?
Cross-Sectional Studies
2
2020
3754
0.110
Why?
Transforming Growth Factor beta2
1
2014
11
0.110
Why?
Phosphatidylinositol 3-Kinases
1
2016
352
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
238
0.110
Why?
Chromosomes, Human, Pair 4
1
2013
59
0.110
Why?
Metabolomics
1
2017
470
0.110
Why?
Chromosome Breakage
1
2014
167
0.100
Why?
Deafness
2
2024
87
0.100
Why?
Loeys-Dietz Syndrome
1
2014
42
0.100
Why?
Comorbidity
1
2018
1625
0.100
Why?
Hyperplasia
1
2013
204
0.100
Why?
Case-Control Studies
4
2021
3667
0.100
Why?
Buttocks
1
2012
6
0.100
Why?
Psychotic Disorders
1
2014
149
0.100
Why?
Mental Disorders
1
2020
887
0.100
Why?
Nephrosis
1
2012
6
0.100
Why?
Thigh
1
2012
52
0.100
Why?
Hypoglycemia
1
2014
193
0.100
Why?
Hypoparathyroidism
1
2012
11
0.100
Why?
Energy Metabolism
1
2017
814
0.100
Why?
Tricuspid Valve Insufficiency
1
2012
64
0.100
Why?
Ehlers-Danlos Syndrome
1
2012
53
0.090
Why?
In Situ Hybridization, Fluorescence
1
2013
793
0.090
Why?
Chromosomes, Human, Pair 10
1
2012
72
0.090
Why?
Incontinentia Pigmenti
1
2011
16
0.090
Why?
Fibrosis
1
2013
463
0.090
Why?
Heterogeneous-Nuclear Ribonucleoprotein U
2
2022
8
0.090
Why?
Polymorphism, Single Nucleotide
1
2020
2941
0.090
Why?
Cells, Cultured
1
2017
3187
0.090
Why?
Chromosomes, Human, Pair 21
1
2011
44
0.090
Why?
Aortic Valve Insufficiency
1
2012
158
0.090
Why?
Chromosomes, Human, X
1
2011
161
0.090
Why?
Gene Silencing
1
2011
247
0.090
Why?
International Agencies
2
2020
31
0.090
Why?
Incidence
1
2018
3416
0.090
Why?
Mitral Valve Insufficiency
1
2012
182
0.080
Why?
Myelodysplastic Syndromes
1
2011
128
0.080
Why?
Retrospective Studies
4
2022
17538
0.080
Why?
Gene Rearrangement
1
2011
331
0.080
Why?
Brain Neoplasms
1
2019
1409
0.080
Why?
Homeodomain Proteins
2
2024
585
0.080
Why?
Risk Assessment
1
2018
3742
0.080
Why?
Mitochondrial Proteins
2
2023
251
0.070
Why?
Middle Aged
4
2022
29394
0.070
Why?
Aged, 80 and over
1
2019
7216
0.070
Why?
Genetic Variation
1
2014
1626
0.070
Why?
Skin Abnormalities
2
2020
35
0.070
Why?
Aged
3
2022
21772
0.070
Why?
Electroencephalography
2
2022
897
0.060
Why?
Microtubules
1
2025
133
0.060
Why?
Thyroid Hormones
1
2025
71
0.060
Why?
Histocompatibility Antigens
1
2024
20
0.060
Why?
Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
1
2024
71
0.060
Why?
Brain Chemistry
1
2024
125
0.060
Why?
Protein Isoforms
1
2025
433
0.050
Why?
Prosencephalon
1
2024
43
0.050
Why?
Molecular Imaging
1
2024
65
0.050
Why?
POU Domain Factors
1
2023
10
0.050
Why?
United States
1
2019
11762
0.050
Why?
Mass Spectrometry
1
2024
370
0.050
Why?
DNA, Intergenic
1
2022
19
0.050
Why?
RNA Recognition Motif Proteins
1
2022
19
0.050
Why?
Poly-ADP-Ribose Binding Proteins
1
2022
32
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
103
0.050
Why?
DNA, Mitochondrial
1
2023
244
0.050
Why?
Transcriptional Elongation Factors
1
2021
30
0.040
Why?
CpG Islands
1
2022
347
0.040
Why?
Ubiquitin-Protein Ligases
1
2024
392
0.040
Why?
Pregnancy
1
2014
7570
0.040
Why?
Syringomyelia
1
2020
17
0.040
Why?
CCCTC-Binding Factor
1
2020
24
0.040
Why?
Protein Stability
1
2021
174
0.040
Why?
KCNQ3 Potassium Channel
1
2020
19
0.040
Why?
GTP-Binding Proteins
1
2021
188
0.040
Why?
Epileptic Syndromes
1
2020
32
0.040
Why?
NAD
1
2020
51
0.040
Why?
GTP-Binding Protein alpha Subunits, Gi-Go
1
2020
21
0.040
Why?
Cleavage And Polyadenylation Specificity Factor
1
2020
15
0.040
Why?
Chromosomes, Human, Pair 7
1
2020
78
0.040
Why?
Signal Transduction
2
2024
4934
0.040
Why?
Frameshift Mutation
1
2020
199
0.040
Why?
Chromosome Duplication
1
2020
149
0.040
Why?
Heart Diseases
1
2024
526
0.040
Why?
Gene Frequency
1
2021
779
0.040
Why?
Retinal Degeneration
1
2020
104
0.040
Why?
Mitosis
1
2019
205
0.040
Why?
DNA Mutational Analysis
1
2020
842
0.040
Why?
Endoplasmic Reticulum
1
2019
230
0.040
Why?
Urogenital Abnormalities
1
2020
161
0.040
Why?
Proteins
1
2024
1099
0.040
Why?
Basic Helix-Loop-Helix Transcription Factors
1
2020
406
0.040
Why?
RNA Splicing
1
2019
251
0.040
Why?
Drug Resistant Epilepsy
1
2020
222
0.030
Why?
Cell Lineage
1
2019
370
0.030
Why?
Models, Molecular
1
2021
1147
0.030
Why?
Evolution, Molecular
1
2021
710
0.030
Why?
HeLa Cells
1
2019
838
0.030
Why?
Genetic Testing
1
2024
1095
0.030
Why?
Diagnosis, Differential
2
2013
1978
0.030
Why?
Transcription, Genetic
1
2023
1761
0.030
Why?
Reproducibility of Results
1
2024
3043
0.030
Why?
Family
1
2020
592
0.030
Why?
Treatment Outcome
2
2024
13073
0.030
Why?
HEK293 Cells
1
2019
824
0.030
Why?
Amino Acid Sequence
1
2021
2794
0.030
Why?
Genomics
1
2025
1673
0.030
Why?
DNA
1
2022
1681
0.030
Why?
Cell Differentiation
1
2023
2044
0.030
Why?
Mice, Knockout
1
2024
4015
0.030
Why?
Neurologic Examination
1
2015
204
0.030
Why?
High-Throughput Nucleotide Sequencing
1
2020
962
0.030
Why?
GTP Phosphohydrolases
1
2015
157
0.030
Why?
Quality of Life
1
2024
2160
0.030
Why?
Collagen Type I
1
2012
130
0.020
Why?
Joint Instability
1
2012
59
0.020
Why?
Gene Expression Profiling
1
2019
1923
0.020
Why?
GATA3 Transcription Factor
1
2012
44
0.020
Why?
I-kappa B Kinase
1
2011
62
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
40
0.020
Why?
Trisomy
1
2011
112
0.020
Why?
Enzyme Inhibitors
1
2012
609
0.020
Why?
Disease Models, Animal
1
2020
4807
0.020
Why?
Histones
1
2011
573
0.020
Why?
RNA, Messenger
1
2011
2911
0.010
Why?
Obesity
1
2013
2446
0.010
Why?
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