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
1042
5.020
Why?
Phenotype
39
2024
4227
2.570
Why?
Abnormalities, Multiple
9
2022
964
2.380
Why?
Neurodevelopmental Disorders
16
2024
485
2.190
Why?
Hand Deformities, Congenital
4
2022
89
1.610
Why?
Microcephaly
4
2022
328
1.570
Why?
Autism Spectrum Disorder
5
2024
378
1.450
Why?
Mutation
26
2024
5772
1.440
Why?
Mutation, Missense
13
2024
846
1.350
Why?
Face
4
2021
180
1.200
Why?
Growth Disorders
4
2022
207
1.100
Why?
Cryptorchidism
3
2022
37
1.060
Why?
Nervous System Malformations
3
2022
128
1.020
Why?
Hydrocephalus
2
2019
241
1.020
Why?
Lysine-tRNA Ligase
2
2023
4
0.980
Why?
Blepharophimosis
2
2024
26
0.940
Why?
Chromosome Deletion
4
2024
638
0.930
Why?
Epilepsy
8
2024
858
0.920
Why?
Craniofacial Abnormalities
6
2024
244
0.850
Why?
Child, Preschool
33
2024
13884
0.830
Why?
Tetralogy of Fallot
2
2022
161
0.820
Why?
Intestinal Atresia
1
2022
19
0.800
Why?
Heart Defects, Congenital
5
2024
1806
0.780
Why?
Hypotrichosis
2
2024
6
0.770
Why?
Developmental Disabilities
7
2024
699
0.770
Why?
DNA Helicases
2
2022
224
0.770
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
214
0.710
Why?
Multiple Sulfatase Deficiency Disease
1
2020
15
0.700
Why?
Sulfatases
1
2020
44
0.700
Why?
Receptor, Notch3
1
2020
12
0.700
Why?
Microfilament Proteins
1
2022
276
0.690
Why?
Comparative Genomic Hybridization
5
2016
574
0.690
Why?
Humans
79
2024
123092
0.690
Why?
Adolescent
28
2024
19104
0.690
Why?
Meningocele
1
2020
20
0.680
Why?
Transcription Factors
6
2024
2585
0.660
Why?
Genetic Association Studies
9
2024
761
0.660
Why?
DNA Methylation
7
2024
987
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
52
0.650
Why?
Polydactyly
1
2019
17
0.650
Why?
Wolman Disease
1
2019
7
0.650
Why?
Sterol Esterase
1
2019
17
0.650
Why?
Chromosomes, Human, Pair 14
1
2019
100
0.630
Why?
Micrognathism
1
2019
65
0.630
Why?
Child
37
2024
24231
0.620
Why?
Male
45
2024
60091
0.610
Why?
Class I Phosphatidylinositol 3-Kinases
2
2022
74
0.610
Why?
Hematologic Diseases
2
2021
78
0.600
Why?
Neck
1
2019
138
0.600
Why?
Codon, Nonsense
2
2020
131
0.600
Why?
Vestibular Diseases
2
2021
67
0.590
Why?
Lipoblastoma
1
2017
6
0.590
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
65538
0.570
Why?
Nuclear Proteins
3
2024
1265
0.570
Why?
Fingers
1
2017
65
0.560
Why?
Vascular Malformations
2
2022
81
0.560
Why?
Monocarboxylic Acid Transporters
3
2022
32
0.550
Why?
Membrane Glycoproteins
1
2019
412
0.550
Why?
Limb Deformities, Congenital
1
2017
105
0.540
Why?
DNA-Binding Proteins
6
2024
2054
0.540
Why?
Symporters
3
2022
66
0.540
Why?
Gait
1
2017
145
0.530
Why?
Rett Syndrome
2
2020
289
0.530
Why?
Sleep Wake Disorders
1
2018
173
0.530
Why?
DNA Copy Number Variations
2
2024
941
0.520
Why?
Skin Diseases
1
2017
124
0.520
Why?
Retina
1
2019
456
0.510
Why?
Lower Extremity
1
2017
179
0.510
Why?
Infant
17
2024
12357
0.480
Why?
Homocystinuria
1
2014
21
0.470
Why?
Gene Expression
1
2019
1566
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
667
0.450
Why?
Muscle Spasticity
1
2014
73
0.450
Why?
Young Adult
14
2022
8839
0.450
Why?
Beckwith-Wiedemann Syndrome
1
2013
16
0.440
Why?
Nervous System Diseases
1
2017
372
0.430
Why?
Klippel-Trenaunay-Weber Syndrome
1
2012
8
0.410
Why?
Genetic Predisposition to Disease
8
2021
3077
0.410
Why?
Lipodystrophy
1
2012
34
0.400
Why?
Translocation, Genetic
2
2013
352
0.400
Why?
Pedigree
7
2021
1581
0.400
Why?
Biomarkers
2
2020
2943
0.400
Why?
Liver
1
2019
1736
0.380
Why?
Organoids
2
2024
277
0.380
Why?
Osteochondrodysplasias
2
2021
68
0.350
Why?
Fibroblasts
3
2019
880
0.340
Why?
Follow-Up Studies
6
2022
5047
0.340
Why?
Smad4 Protein
2
2022
55
0.340
Why?
Syndrome
7
2022
1115
0.340
Why?
Muscle Hypotonia
2
2022
185
0.330
Why?
Heterozygote
4
2021
672
0.330
Why?
Brain
5
2024
2961
0.320
Why?
Surveys and Questionnaires
1
2018
3665
0.310
Why?
DEAD-box RNA Helicases
2
2019
118
0.300
Why?
Seizures
3
2022
872
0.300
Why?
Exons
4
2020
794
0.290
Why?
Saccharomyces cerevisiae
2
2021
422
0.280
Why?
Epigenesis, Genetic
4
2022
666
0.270
Why?
Infant, Newborn
7
2021
8111
0.270
Why?
Lung
1
2014
1461
0.260
Why?
Prognosis
5
2021
4513
0.260
Why?
Zebrafish
3
2023
386
0.250
Why?
Hearing Loss, Sensorineural
2
2020
141
0.250
Why?
Foot Deformities, Congenital
2
2024
16
0.240
Why?
Autophagosomes
1
2024
24
0.240
Why?
Vacuolar Proton-Translocating ATPases
1
2024
21
0.230
Why?
Magnetic Resonance Imaging
5
2020
3544
0.230
Why?
Brain Diseases
3
2024
296
0.230
Why?
Contracture
1
2024
24
0.230
Why?
Chromosomes, Human, Pair 9
1
2024
106
0.230
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
172
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
29018
0.210
Why?
Lysosomes
1
2024
232
0.210
Why?
Landau-Kleffner Syndrome
1
2022
7
0.200
Why?
Genotype
4
2022
2535
0.200
Why?
Triiodothyronine
1
2022
63
0.200
Why?
Migraine with Aura
1
2022
16
0.200
Why?
Repressor Proteins
2
2024
810
0.200
Why?
Chromosome Aberrations
2
2016
614
0.190
Why?
Forkhead Transcription Factors
1
2024
367
0.190
Why?
Induced Pluripotent Stem Cells
1
2023
190
0.190
Why?
Musculoskeletal Abnormalities
1
2022
73
0.190
Why?
Minor Histocompatibility Antigens
1
2021
35
0.190
Why?
Neural Crest
1
2022
51
0.190
Why?
Autistic Disorder
2
2023
346
0.190
Why?
Organisms, Genetically Modified
1
2021
11
0.190
Why?
Fused Kidney
1
2021
3
0.190
Why?
Breast Neoplasms
1
2013
2479
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
0.190
Why?
SKP Cullin F-Box Protein Ligases
1
2020
19
0.180
Why?
Cytosol
1
2021
159
0.180
Why?
Myoclonic Epilepsies, Progressive
1
2020
13
0.180
Why?
Methyl-CpG-Binding Protein 2
1
2023
306
0.180
Why?
Sequence Deletion
2
2014
527
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?
Isoenzymes
1
2021
223
0.180
Why?
Transcription Factors, TFII
1
2020
7
0.180
Why?
Age of Onset
3
2019
581
0.180
Why?
E1A-Associated p300 Protein
1
2020
53
0.180
Why?
Severity of Illness Index
3
2019
2846
0.180
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
577
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?
Genetics, Population
1
2020
185
0.170
Why?
Cohort Studies
4
2021
4703
0.170
Why?
Language Development Disorders
1
2021
173
0.170
Why?
Muscular Diseases
1
2020
102
0.170
Why?
Sphingomyelin Phosphodiesterase
1
2019
42
0.160
Why?
Arthrogryposis
1
2019
33
0.160
Why?
Homozygote
1
2021
534
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?
Folic Acid Deficiency
1
2018
51
0.150
Why?
Italy
1
2018
111
0.150
Why?
Hospitals, University
1
2018
96
0.150
Why?
Congenital Abnormalities
1
2021
249
0.150
Why?
Survival Rate
2
2020
1997
0.150
Why?
Pupil Disorders
1
2017
18
0.150
Why?
Sex Distribution
1
2018
294
0.150
Why?
Statistics, Nonparametric
1
2018
423
0.150
Why?
Chromosome Disorders
1
2020
309
0.140
Why?
Age Distribution
1
2018
409
0.140
Why?
Carbohydrate Metabolism, Inborn Errors
1
2017
36
0.140
Why?
Diffusion Tensor Imaging
1
2019
239
0.140
Why?
Gain of Function Mutation
1
2017
105
0.140
Why?
Cytogenetic Analysis
2
2014
79
0.130
Why?
Cerebellum
1
2020
414
0.130
Why?
Analysis of Variance
1
2018
1008
0.130
Why?
Pilot Projects
1
2020
1389
0.130
Why?
Alleles
1
2021
1604
0.130
Why?
Polymicrogyria
1
2016
2
0.130
Why?
Mitochondria
1
2021
677
0.130
Why?
Nerve Tissue Proteins
2
2024
1114
0.130
Why?
Skin
1
2019
506
0.130
Why?
Pain
1
2018
470
0.120
Why?
Fatty Acids
1
2017
338
0.120
Why?
Disease Progression
1
2021
2024
0.120
Why?
Cross-Sectional Studies
2
2020
3370
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
408
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
3240
0.110
Why?
Chromosome Breakage
1
2014
168
0.110
Why?
Comorbidity
1
2018
1495
0.110
Why?
Deafness
2
2024
81
0.110
Why?
Loeys-Dietz Syndrome
1
2014
37
0.110
Why?
Hyperplasia
1
2013
210
0.110
Why?
Mental Disorders
1
2020
821
0.100
Why?
Buttocks
1
2012
6
0.100
Why?
Psychotic Disorders
1
2014
140
0.100
Why?
Energy Metabolism
1
2017
770
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
45
0.100
Why?
Tricuspid Valve Insufficiency
1
2012
63
0.100
Why?
In Situ Hybridization, Fluorescence
1
2013
757
0.100
Why?
Chromosomes, Human, Pair 10
1
2012
65
0.100
Why?
Incontinentia Pigmenti
1
2011
16
0.100
Why?
Polymorphism, Single Nucleotide
1
2020
2582
0.100
Why?
Fibrosis
1
2013
429
0.100
Why?
Heterogeneous-Nuclear Ribonucleoprotein U
2
2022
6
0.100
Why?
Cells, Cultured
1
2017
3042
0.090
Why?
Chromosomes, Human, Pair 21
1
2011
40
0.090
Why?
Aortic Valve Insufficiency
1
2012
138
0.090
Why?
Incidence
1
2018
3043
0.090
Why?
Mitral Valve Insufficiency
1
2012
156
0.090
Why?
Gene Silencing
1
2011
237
0.090
Why?
Chromosomes, Human, X
1
2011
157
0.090
Why?
International Agencies
2
2020
28
0.090
Why?
Retrospective Studies
4
2022
16037
0.090
Why?
Myelodysplastic Syndromes
1
2011
137
0.090
Why?
Brain Neoplasms
1
2019
1236
0.080
Why?
Gene Rearrangement
1
2011
327
0.080
Why?
Risk Assessment
1
2018
3316
0.080
Why?
Homeodomain Proteins
2
2024
545
0.080
Why?
Mitochondrial Proteins
2
2023
239
0.080
Why?
Middle Aged
4
2022
25993
0.080
Why?
Aged, 80 and over
1
2019
6369
0.070
Why?
Aged
3
2022
19092
0.070
Why?
Genetic Variation
1
2014
1477
0.070
Why?
Skin Abnormalities
2
2020
32
0.070
Why?
Animals
6
2024
33794
0.070
Why?
Electroencephalography
2
2022
860
0.070
Why?
Mice
4
2024
17541
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
10645
0.060
Why?
POU Domain Factors
1
2023
10
0.050
Why?
Mass Spectrometry
1
2024
326
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
358
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
321
0.050
Why?
Transcriptional Elongation Factors
1
2021
25
0.050
Why?
Ubiquitin-Protein Ligases
1
2024
352
0.050
Why?
Pregnancy
1
2014
7162
0.050
Why?
Syringomyelia
1
2020
17
0.050
Why?
CCCTC-Binding Factor
1
2020
18
0.050
Why?
Protein Stability
1
2021
164
0.050
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
4490
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
175
0.040
Why?
Chromosomes, Human, Pair 7
1
2020
73
0.040
Why?
Retinal Degeneration
1
2020
91
0.040
Why?
Heart Diseases
1
2024
482
0.040
Why?
Gene Frequency
1
2021
713
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
793
0.040
Why?
Proteins
1
2024
1038
0.040
Why?
RNA Splicing
1
2019
223
0.040
Why?
Basic Helix-Loop-Helix Transcription Factors
1
2020
382
0.040
Why?
Genetic Testing
1
2024
996
0.040
Why?
Drug Resistant Epilepsy
1
2020
200
0.040
Why?
Urogenital Abnormalities
1
2020
169
0.040
Why?
Models, Molecular
1
2021
1070
0.040
Why?
Cell Lineage
1
2019
340
0.040
Why?
Evolution, Molecular
1
2021
672
0.040
Why?
Diagnosis, Differential
2
2013
1877
0.040
Why?
HeLa Cells
1
2019
809
0.040
Why?
Transcription, Genetic
1
2023
1702
0.040
Why?
Reproducibility of Results
1
2024
2826
0.040
Why?
Treatment Outcome
2
2024
12119
0.040
Why?
Family
1
2020
570
0.040
Why?
HEK293 Cells
1
2019
741
0.030
Why?
DNA
1
2022
1591
0.030
Why?
Amino Acid Sequence
1
2021
2696
0.030
Why?
Cell Differentiation
1
2023
1909
0.030
Why?
Mice, Knockout
1
2024
3720
0.030
Why?
Neurologic Examination
1
2015
195
0.030
Why?
High-Throughput Nucleotide Sequencing
1
2020
861
0.030
Why?
GTP Phosphohydrolases
1
2015
142
0.030
Why?
Quality of Life
1
2024
1929
0.030
Why?
Gene Expression Profiling
1
2019
1680
0.030
Why?
Collagen Type I
1
2012
110
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
4285
0.020
Why?
Enzyme Inhibitors
1
2012
571
0.020
Why?
Histones
1
2011
527
0.020
Why?
RNA, Messenger
1
2011
2809
0.010
Why?
Obesity
1
2013
2227
0.010
Why?
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