Gerarda Cappuccio

Concepts (344)

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
5.000
Why?
Phenotype
39
2024
4225
2.570
Why?
Abnormalities, Multiple
9
2022
962
2.370
Why?
Neurodevelopmental Disorders
16
2024
492
2.160
Why?
Hand Deformities, Congenital
4
2022
89
1.600
Why?
Microcephaly
4
2022
330
1.560
Why?
Autism Spectrum Disorder
5
2024
377
1.440
Why?
Mutation
26
2024
5766
1.440
Why?
Mutation, Missense
13
2024
851
1.340
Why?
Face
4
2021
180
1.190
Why?
Growth Disorders
4
2022
208
1.100
Why?
Cryptorchidism
3
2022
37
1.060
Why?
Nervous System Malformations
3
2022
128
1.010
Why?
Hydrocephalus
2
2019
242
1.010
Why?
Lysine-tRNA Ligase
2
2023
4
0.980
Why?
Blepharophimosis
2
2024
26
0.930
Why?
Chromosome Deletion
4
2024
640
0.920
Why?
Epilepsy
8
2024
857
0.920
Why?
Craniofacial Abnormalities
6
2024
242
0.850
Why?
Child, Preschool
33
2024
13928
0.820
Why?
Tetralogy of Fallot
2
2022
161
0.810
Why?
Intestinal Atresia
1
2022
19
0.800
Why?
Heart Defects, Congenital
5
2024
1803
0.780
Why?
Hypotrichosis
2
2024
6
0.770
Why?
DNA Helicases
2
2022
224
0.760
Why?
Developmental Disabilities
7
2024
704
0.760
Why?
Facies
7
2024
155
0.760
Why?
Malformations of Cortical Development
2
2019
53
0.760
Why?
Losartan
1
2020
33
0.720
Why?
Angiotensin II Type 1 Receptor Blockers
1
2020
51
0.710
Why?
Chromosomal Proteins, Non-Histone
1
2022
213
0.700
Why?
Multiple Sulfatase Deficiency Disease
1
2020
15
0.700
Why?
Sulfatases
1
2020
44
0.690
Why?
Receptor, Notch3
1
2020
12
0.690
Why?
Microfilament Proteins
1
2022
275
0.690
Why?
Comparative Genomic Hybridization
5
2016
573
0.690
Why?
Humans
79
2024
123288
0.680
Why?
Adolescent
28
2024
19129
0.680
Why?
Meningocele
1
2020
19
0.680
Why?
DNA Methylation
7
2024
989
0.660
Why?
Transcription Factors
6
2024
2591
0.660
Why?
Genetic Association Studies
9
2024
760
0.660
Why?
Receptors, N-Methyl-D-Aspartate
4
2024
148
0.660
Why?
Cyclin D2
1
2019
14
0.660
Why?
Pseudogenes
1
2019
53
0.650
Why?
Polydactyly
1
2019
17
0.650
Why?
Wolman Disease
1
2019
7
0.640
Why?
Sterol Esterase
1
2019
17
0.640
Why?
Chromosomes, Human, Pair 14
1
2019
100
0.630
Why?
Micrognathism
1
2019
65
0.620
Why?
Child
37
2024
24269
0.620
Why?
Male
45
2024
60346
0.610
Why?
Class I Phosphatidylinositol 3-Kinases
2
2022
73
0.610
Why?
Hematologic Diseases
2
2021
78
0.600
Why?
Neck
1
2019
138
0.590
Why?
Codon, Nonsense
2
2020
131
0.590
Why?
Vestibular Diseases
2
2021
67
0.580
Why?
Lipoblastoma
1
2017
6
0.580
Why?
Dystonin
1
2017
1
0.580
Why?
Monosaccharide Transport Proteins
1
2017
39
0.580
Why?
Diet, Ketogenic
1
2017
23
0.570
Why?
Spinocerebellar Ataxias
1
2020
253
0.570
Why?
Female
45
2024
65630
0.570
Why?
Nuclear Proteins
3
2024
1268
0.560
Why?
Fingers
1
2017
65
0.560
Why?
Vascular Malformations
2
2022
81
0.560
Why?
Monocarboxylic Acid Transporters
3
2022
30
0.550
Why?
Membrane Glycoproteins
1
2019
412
0.540
Why?
Limb Deformities, Congenital
1
2017
105
0.540
Why?
DNA-Binding Proteins
6
2024
2053
0.530
Why?
Symporters
3
2022
66
0.530
Why?
Gait
1
2017
146
0.530
Why?
Rett Syndrome
2
2020
290
0.520
Why?
Sleep Wake Disorders
1
2018
178
0.520
Why?
DNA Copy Number Variations
2
2024
940
0.520
Why?
Skin Diseases
1
2017
124
0.520
Why?
Retina
1
2019
454
0.500
Why?
Lower Extremity
1
2017
183
0.500
Why?
Infant
17
2024
12371
0.470
Why?
Homocystinuria
1
2014
21
0.460
Why?
Gene Expression
1
2019
1567
0.460
Why?
Methylenetetrahydrofolate Reductase (NADPH2)
1
2014
70
0.460
Why?
Langer-Giedion Syndrome
1
2013
3
0.450
Why?
Neoplasm Proteins
2
2019
668
0.450
Why?
Muscle Spasticity
1
2014
73
0.450
Why?
Young Adult
14
2022
8871
0.450
Why?
Beckwith-Wiedemann Syndrome
1
2013
16
0.440
Why?
Nervous System Diseases
1
2017
376
0.430
Why?
Klippel-Trenaunay-Weber Syndrome
1
2012
8
0.410
Why?
Genetic Predisposition to Disease
8
2021
3087
0.410
Why?
Lipodystrophy
1
2012
34
0.400
Why?
Translocation, Genetic
2
2013
351
0.400
Why?
Pedigree
7
2021
1581
0.400
Why?
Biomarkers
2
2020
2955
0.400
Why?
Liver
1
2019
1743
0.380
Why?
Organoids
2
2024
277
0.380
Why?
Osteochondrodysplasias
2
2021
68
0.350
Why?
Fibroblasts
3
2019
884
0.340
Why?
Follow-Up Studies
6
2022
5061
0.340
Why?
Smad4 Protein
2
2022
55
0.340
Why?
Syndrome
7
2022
1115
0.330
Why?
Muscle Hypotonia
2
2022
185
0.330
Why?
Heterozygote
4
2021
678
0.330
Why?
Brain
5
2024
2964
0.320
Why?
Surveys and Questionnaires
1
2018
3681
0.310
Why?
DEAD-box RNA Helicases
2
2019
120
0.300
Why?
Seizures
3
2022
875
0.290
Why?
Exons
4
2020
794
0.290
Why?
Saccharomyces cerevisiae
2
2021
424
0.280
Why?
Epigenesis, Genetic
4
2022
664
0.270
Why?
Infant, Newborn
7
2021
8116
0.270
Why?
Lung
1
2014
1465
0.260
Why?
Prognosis
5
2021
4518
0.250
Why?
Zebrafish
3
2023
384
0.250
Why?
Hearing Loss, Sensorineural
2
2020
138
0.240
Why?
Foot Deformities, Congenital
2
2024
16
0.240
Why?
Autophagosomes
1
2024
24
0.230
Why?
Magnetic Resonance Imaging
5
2020
3553
0.230
Why?
Vacuolar Proton-Translocating ATPases
1
2024
21
0.230
Why?
Brain Diseases
3
2024
298
0.230
Why?
Contracture
1
2024
24
0.230
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
0.220
Why?
Agammaglobulinemia
1
2023
39
0.220
Why?
Serine
1
2024
173
0.220
Why?
Histone-Lysine N-Methyltransferase
1
2024
153
0.210
Why?
Haploinsufficiency
5
2024
247
0.210
Why?
RNA Helicases
2
2022
63
0.210
Why?
Adult
11
2022
29093
0.210
Why?
Lysosomes
1
2024
232
0.200
Why?
Landau-Kleffner Syndrome
1
2022
7
0.200
Why?
Genotype
4
2022
2539
0.200
Why?
Triiodothyronine
1
2022
64
0.200
Why?
Migraine with Aura
1
2022
16
0.190
Why?
Repressor Proteins
2
2024
815
0.190
Why?
Forkhead Transcription Factors
1
2024
365
0.190
Why?
Chromosome Aberrations
2
2016
620
0.190
Why?
Induced Pluripotent Stem Cells
1
2023
190
0.190
Why?
Musculoskeletal Abnormalities
1
2022
72
0.190
Why?
Minor Histocompatibility Antigens
1
2021
35
0.190
Why?
Neural Crest
1
2022
50
0.190
Why?
Autistic Disorder
2
2023
345
0.190
Why?
Organisms, Genetically Modified
1
2021
11
0.190
Why?
Fused Kidney
1
2021
3
0.190
Why?
Breast Neoplasms
1
2013
2478
0.190
Why?
Eye Abnormalities
1
2022
106
0.190
Why?
Brain Diseases, Metabolic, Inborn
1
2021
23
0.190
Why?
Muscular Atrophy
1
2022
74
0.190
Why?
Mental Retardation, X-Linked
1
2022
77
0.180
Why?
SKP Cullin F-Box Protein Ligases
1
2020
19
0.180
Why?
Cytosol
1
2021
158
0.180
Why?
Myoclonic Epilepsies, Progressive
1
2020
13
0.180
Why?
Methyl-CpG-Binding Protein 2
1
2023
308
0.180
Why?
Sequence Deletion
2
2014
528
0.180
Why?
Rubinstein-Taybi Syndrome
1
2020
16
0.180
Why?
Histone Acetyltransferases
1
2021
313
0.180
Why?
Nicotinamide-Nucleotide Adenylyltransferase
1
2020
13
0.180
Why?
Inositol
1
2020
13
0.180
Why?
Agenesis of Corpus Callosum
2
2022
38
0.180
Why?
Age of Onset
3
2019
581
0.180
Why?
Isoenzymes
1
2021
225
0.180
Why?
Transcription Factors, TFII
1
2020
7
0.180
Why?
E1A-Associated p300 Protein
1
2020
52
0.180
Why?
Severity of Illness Index
3
2019
2861
0.170
Why?
Leber Congenital Amaurosis
1
2020
30
0.170
Why?
Inositol 1,4,5-Trisphosphate Receptors
1
2020
35
0.170
Why?
Ubiquitin-Conjugating Enzymes
1
2020
35
0.170
Why?
Heart Septal Defects, Ventricular
1
2021
133
0.170
Why?
Adenosine Triphosphatases
1
2021
208
0.170
Why?
Loss of Function Mutation
1
2021
142
0.170
Why?
Arnold-Chiari Malformation
1
2020
51
0.170
Why?
Williams Syndrome
1
2020
39
0.170
Why?
RNA-Binding Proteins
2
2021
575
0.170
Why?
Arginine-tRNA Ligase
1
2019
9
0.170
Why?
Hereditary Central Nervous System Demyelinating Diseases
1
2019
17
0.170
Why?
Genetic Diseases, X-Linked
1
2020
65
0.170
Why?
Cohort Studies
4
2021
4692
0.170
Why?
Genetics, Population
1
2020
185
0.170
Why?
Language Development Disorders
1
2021
173
0.170
Why?
Muscular Diseases
1
2020
102
0.170
Why?
Sphingomyelin Phosphodiesterase
1
2019
41
0.160
Why?
Arthrogryposis
1
2019
33
0.160
Why?
Homozygote
1
2021
532
0.160
Why?
Spine
1
2020
143
0.160
Why?
Chromosomes, Human, Pair 16
1
2020
150
0.160
Why?
Adaptor Protein Complex sigma Subunits
1
2018
2
0.160
Why?
DNA-Directed RNA Polymerases
1
2019
121
0.160
Why?
Spasms, Infantile
1
2020
171
0.160
Why?
Italy
1
2018
111
0.150
Why?
Folic Acid Deficiency
1
2018
53
0.150
Why?
Hospitals, University
1
2018
96
0.150
Why?
Survival Rate
2
2020
2005
0.150
Why?
Congenital Abnormalities
1
2021
254
0.150
Why?
Pupil Disorders
1
2017
18
0.150
Why?
Sex Distribution
1
2018
294
0.150
Why?
Statistics, Nonparametric
1
2018
424
0.140
Why?
Chromosome Disorders
1
2020
310
0.140
Why?
Age Distribution
1
2018
410
0.140
Why?
Carbohydrate Metabolism, Inborn Errors
1
2017
36
0.140
Why?
Diffusion Tensor Imaging
1
2019
238
0.140
Why?
Gain of Function Mutation
1
2017
105
0.140
Why?
Cytogenetic Analysis
2
2014
79
0.130
Why?
Cerebellum
1
2020
416
0.130
Why?
Analysis of Variance
1
2018
1012
0.130
Why?
Alleles
1
2021
1601
0.130
Why?
Pilot Projects
1
2020
1389
0.130
Why?
Polymicrogyria
1
2016
2
0.130
Why?
Mitochondria
1
2021
676
0.130
Why?
Nerve Tissue Proteins
2
2024
1110
0.130
Why?
Skin
1
2019
507
0.130
Why?
Pain
1
2018
470
0.120
Why?
Fatty Acids
1
2017
338
0.120
Why?
Disease Progression
1
2021
2031
0.120
Why?
Cross-Sectional Studies
2
2020
3385
0.120
Why?
Charcot-Marie-Tooth Disease
1
2015
199
0.110
Why?
Transforming Growth Factor beta2
1
2014
8
0.110
Why?
Metabolomics
1
2017
409
0.110
Why?
Wolf-Hirschhorn Syndrome
1
2013
8
0.110
Why?
Phosphatidylinositol 3-Kinases
1
2016
340
0.110
Why?
Chromosome Banding
1
2013
139
0.110
Why?
Chromosomes, Human, Pair 4
1
2013
57
0.110
Why?
Case-Control Studies
4
2021
3236
0.110
Why?
Comorbidity
1
2018
1497
0.110
Why?
Chromosome Breakage
1
2014
168
0.110
Why?
Deafness
2
2024
81
0.110
Why?
Loeys-Dietz Syndrome
1
2014
37
0.110
Why?
Hyperplasia
1
2013
209
0.110
Why?
Mental Disorders
1
2020
818
0.100
Why?
Psychotic Disorders
1
2014
136
0.100
Why?
Buttocks
1
2012
6
0.100
Why?
Energy Metabolism
1
2017
774
0.100
Why?
Nephrosis
1
2012
4
0.100
Why?
Thigh
1
2012
50
0.100
Why?
Hypoglycemia
1
2014
191
0.100
Why?
Hypoparathyroidism
1
2012
11
0.100
Why?
Ehlers-Danlos Syndrome
1
2012
44
0.100
Why?
Tricuspid Valve Insufficiency
1
2012
63
0.100
Why?
In Situ Hybridization, Fluorescence
1
2013
756
0.100
Why?
Chromosomes, Human, Pair 10
1
2012
65
0.100
Why?
Polymorphism, Single Nucleotide
1
2020
2588
0.100
Why?
Incontinentia Pigmenti
1
2011
16
0.100
Why?
Fibrosis
1
2013
429
0.100
Why?
Heterogeneous-Nuclear Ribonucleoprotein U
2
2022
6
0.090
Why?
Cells, Cultured
1
2017
3045
0.090
Why?
Chromosomes, Human, Pair 21
1
2011
40
0.090
Why?
Aortic Valve Insufficiency
1
2012
140
0.090
Why?
Incidence
1
2018
3055
0.090
Why?
Mitral Valve Insufficiency
1
2012
156
0.090
Why?
Gene Silencing
1
2011
236
0.090
Why?
Chromosomes, Human, X
1
2011
157
0.090
Why?
International Agencies
2
2020
28
0.090
Why?
Retrospective Studies
4
2022
16081
0.090
Why?
Myelodysplastic Syndromes
1
2011
138
0.080
Why?
Brain Neoplasms
1
2019
1236
0.080
Why?
Gene Rearrangement
1
2011
320
0.080
Why?
Risk Assessment
1
2018
3341
0.080
Why?
Homeodomain Proteins
2
2024
542
0.080
Why?
Mitochondrial Proteins
2
2023
239
0.080
Why?
Middle Aged
4
2022
26095
0.080
Why?
Aged, 80 and over
1
2019
6390
0.070
Why?
Genetic Variation
1
2014
1479
0.070
Why?
Aged
3
2022
19180
0.070
Why?
Skin Abnormalities
2
2020
32
0.070
Why?
Animals
6
2024
33853
0.070
Why?
Electroencephalography
2
2022
857
0.070
Why?
Mice
4
2024
17557
0.060
Why?
Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
1
2024
59
0.060
Why?
Histocompatibility Antigens
1
2024
18
0.060
Why?
Prosencephalon
1
2024
40
0.060
Why?
Brain Chemistry
1
2024
122
0.060
Why?
Molecular Imaging
1
2024
61
0.060
Why?
United States
1
2019
10657
0.050
Why?
POU Domain Factors
1
2023
10
0.050
Why?
Mass Spectrometry
1
2024
329
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
359
0.050
Why?
DNA, Mitochondrial
1
2023
211
0.050
Why?
Sodium-Potassium-Exchanging ATPase
1
2022
98
0.050
Why?
CpG Islands
1
2022
320
0.050
Why?
Transcriptional Elongation Factors
1
2021
25
0.050
Why?
Ubiquitin-Protein Ligases
1
2024
352
0.050
Why?
Pregnancy
1
2014
7129
0.050
Why?
Syringomyelia
1
2020
17
0.050
Why?
CCCTC-Binding Factor
1
2020
18
0.050
Why?
Protein Stability
1
2021
165
0.040
Why?
KCNQ3 Potassium Channel
1
2020
19
0.040
Why?
GTP-Binding Proteins
1
2021
171
0.040
Why?
Epileptic Syndromes
1
2020
30
0.040
Why?
NAD
1
2020
48
0.040
Why?
Signal Transduction
2
2024
4498
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
176
0.040
Why?
Chromosomes, Human, Pair 7
1
2020
73
0.040
Why?
Heart Diseases
1
2024
481
0.040
Why?
Retinal Degeneration
1
2020
91
0.040
Why?
Gene Frequency
1
2021
716
0.040
Why?
Chromosome Duplication
1
2020
147
0.040
Why?
Mitosis
1
2019
238
0.040
Why?
Endoplasmic Reticulum
1
2019
211
0.040
Why?
DNA Mutational Analysis
1
2020
788
0.040
Why?
Proteins
1
2024
1040
0.040
Why?
RNA Splicing
1
2019
224
0.040
Why?
Basic Helix-Loop-Helix Transcription Factors
1
2020
382
0.040
Why?
Genetic Testing
1
2024
999
0.040
Why?
Drug Resistant Epilepsy
1
2020
206
0.040
Why?
Urogenital Abnormalities
1
2020
169
0.040
Why?
Models, Molecular
1
2021
1069
0.040
Why?
Cell Lineage
1
2019
341
0.040
Why?
Evolution, Molecular
1
2021
672
0.040
Why?
Diagnosis, Differential
2
2013
1878
0.040
Why?
HeLa Cells
1
2019
807
0.040
Why?
Transcription, Genetic
1
2023
1701
0.040
Why?
Reproducibility of Results
1
2024
2845
0.040
Why?
Treatment Outcome
2
2024
12176
0.040
Why?
Family
1
2020
567
0.030
Why?
HEK293 Cells
1
2019
738
0.030
Why?
DNA
1
2022
1596
0.030
Why?
Amino Acid Sequence
1
2021
2696
0.030
Why?
Cell Differentiation
1
2023
1915
0.030
Why?
Mice, Knockout
1
2024
3735
0.030
Why?
High-Throughput Nucleotide Sequencing
1
2020
862
0.030
Why?
Neurologic Examination
1
2015
195
0.030
Why?
GTP Phosphohydrolases
1
2015
142
0.030
Why?
Quality of Life
1
2024
1936
0.030
Why?
Gene Expression Profiling
1
2019
1682
0.030
Why?
Collagen Type I
1
2012
111
0.030
Why?
Joint Instability
1
2012
42
0.030
Why?
GATA3 Transcription Factor
1
2012
39
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
34
0.020
Why?
Trisomy
1
2011
103
0.020
Why?
Gene Deletion
1
2014
793
0.020
Why?
Disease Models, Animal
1
2020
4300
0.020
Why?
Enzyme Inhibitors
1
2012
576
0.020
Why?
Histones
1
2011
528
0.020
Why?
RNA, Messenger
1
2011
2816
0.010
Why?
Obesity
1
2013
2235
0.010
Why?
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