Gerarda Cappuccio

Concepts (354)

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
1088
4.620
Why?
Phenotype
42
2025
4461
2.410
Why?
Abnormalities, Multiple
10
2025
962
2.230
Why?
Neurodevelopmental Disorders
16
2024
629
1.830
Why?
Hand Deformities, Congenital
4
2022
95
1.460
Why?
Microcephaly
4
2022
346
1.440
Why?
Mutation
26
2024
6059
1.310
Why?
Mutation, Missense
15
2025
918
1.300
Why?
Autism Spectrum Disorder
5
2024
450
1.280
Why?
Face
4
2021
191
1.070
Why?
Growth Disorders
4
2022
181
1.040
Why?
Cryptorchidism
3
2022
37
0.960
Why?
Hydrocephalus
2
2019
245
0.930
Why?
Nervous System Malformations
3
2022
135
0.920
Why?
Lysine-tRNA Ligase
2
2023
5
0.890
Why?
Blepharophimosis
2
2024
25
0.850
Why?
Chromosome Deletion
4
2024
653
0.840
Why?
Epilepsy
8
2024
874
0.840
Why?
Microfilament Proteins
2
2025
269
0.830
Why?
Neural Stem Cells
1
2025
128
0.820
Why?
Biomarkers
3
2025
3366
0.820
Why?
Genetic Association Studies
10
2025
818
0.780
Why?
Craniofacial Abnormalities
6
2024
251
0.770
Why?
Child, Preschool
35
2025
15029
0.760
Why?
DNA Methylation
8
2025
1076
0.740
Why?
Tetralogy of Fallot
2
2022
170
0.730
Why?
Intestinal Atresia
1
2022
22
0.720
Why?
Monocarboxylic Acid Transporters
4
2025
38
0.710
Why?
Heart Defects, Congenital
5
2024
1876
0.710
Why?
Hypotrichosis
2
2024
8
0.700
Why?
Facies
7
2024
157
0.690
Why?
Symporters
4
2025
80
0.690
Why?
Malformations of Cortical Development
2
2019
60
0.680
Why?
DNA Helicases
2
2022
239
0.680
Why?
Developmental Disabilities
7
2024
780
0.680
Why?
Humans
84
2025
130534
0.660
Why?
Losartan
1
2020
36
0.660
Why?
Transcription Factors
7
2025
2403
0.650
Why?
Angiotensin II Type 1 Receptor Blockers
1
2020
56
0.640
Why?
Chromosomal Proteins, Non-Histone
1
2022
209
0.640
Why?
Multiple Sulfatase Deficiency Disease
1
2020
15
0.640
Why?
Comparative Genomic Hybridization
5
2016
566
0.630
Why?
Adolescent
30
2025
20879
0.630
Why?
Receptor, Notch3
1
2020
11
0.630
Why?
Sulfatases
1
2020
46
0.630
Why?
Computational Biology
1
2025
861
0.630
Why?
Meningocele
1
2020
18
0.620
Why?
Receptors, N-Methyl-D-Aspartate
4
2024
124
0.620
Why?
Cyclin D2
1
2019
14
0.600
Why?
Pseudogenes
1
2019
50
0.590
Why?
Polydactyly
1
2019
18
0.590
Why?
Wolman Disease
1
2019
7
0.580
Why?
Sterol Esterase
1
2019
20
0.580
Why?
Male
49
2025
64598
0.580
Why?
Chromosomes, Human, Pair 14
1
2019
94
0.570
Why?
Child
38
2025
26237
0.570
Why?
Spinocerebellar Ataxias
1
2020
152
0.570
Why?
Micrognathism
1
2019
64
0.570
Why?
Class I Phosphatidylinositol 3-Kinases
2
2022
77
0.550
Why?
Neck
1
2019
139
0.540
Why?
Hematologic Diseases
2
2021
82
0.540
Why?
Codon, Nonsense
2
2020
136
0.540
Why?
Female
49
2025
70563
0.540
Why?
Vestibular Diseases
2
2021
67
0.530
Why?
Lipoblastoma
1
2017
6
0.530
Why?
Dystonin
1
2017
1
0.530
Why?
Monosaccharide Transport Proteins
1
2017
43
0.520
Why?
Nuclear Proteins
3
2024
1210
0.520
Why?
Diet, Ketogenic
1
2017
26
0.520
Why?
Fingers
1
2017
62
0.510
Why?
DNA Copy Number Variations
3
2025
1027
0.510
Why?
Membrane Glycoproteins
1
2019
405
0.510
Why?
Rett Syndrome
2
2020
229
0.500
Why?
Vascular Malformations
2
2022
103
0.500
Why?
DNA-Binding Proteins
6
2024
1936
0.500
Why?
Limb Deformities, Congenital
1
2017
116
0.490
Why?
Gait
1
2017
141
0.480
Why?
Skin Diseases
1
2017
141
0.460
Why?
Retina
1
2019
423
0.460
Why?
Sleep Wake Disorders
1
2018
202
0.460
Why?
Lower Extremity
1
2017
185
0.460
Why?
Pedigree
9
2025
1669
0.450
Why?
Infant
18
2025
13295
0.440
Why?
Gene Expression
1
2019
1482
0.430
Why?
Methylenetetrahydrofolate Reductase (NADPH2)
1
2014
63
0.420
Why?
Homocystinuria
1
2014
26
0.420
Why?
Muscle Spasticity
1
2014
51
0.410
Why?
Neoplasm Proteins
2
2019
679
0.410
Why?
Langer-Giedion Syndrome
1
2013
3
0.410
Why?
Beckwith-Wiedemann Syndrome
1
2013
22
0.400
Why?
Young Adult
14
2022
10036
0.390
Why?
Nervous System Diseases
1
2017
394
0.390
Why?
Hereditary Central Nervous System Demyelinating Diseases
2
2025
20
0.380
Why?
Klippel-Trenaunay-Weber Syndrome
1
2012
6
0.380
Why?
Muscular Atrophy
2
2025
84
0.370
Why?
Translocation, Genetic
2
2013
344
0.370
Why?
Lipodystrophy
1
2012
37
0.360
Why?
Genetic Predisposition to Disease
8
2021
3422
0.350
Why?
Muscle Hypotonia
3
2025
194
0.350
Why?
Heterozygote
5
2025
721
0.340
Why?
Liver
1
2019
1788
0.340
Why?
Organoids
2
2024
300
0.340
Why?
Chromosome Disorders
2
2025
316
0.330
Why?
Osteochondrodysplasias
2
2021
68
0.320
Why?
Fibroblasts
3
2019
849
0.310
Why?
Brain
6
2025
3165
0.310
Why?
Follow-Up Studies
6
2022
5184
0.310
Why?
Smad4 Protein
2
2022
59
0.300
Why?
Syndrome
7
2022
1154
0.300
Why?
Epigenesis, Genetic
5
2025
756
0.280
Why?
Surveys and Questionnaires
1
2018
4057
0.280
Why?
DEAD-box RNA Helicases
2
2019
160
0.270
Why?
Exons
4
2020
759
0.270
Why?
Seizures
3
2022
889
0.260
Why?
Saccharomyces cerevisiae
2
2021
399
0.260
Why?
Infant, Newborn
7
2021
8606
0.240
Why?
Lung
1
2014
1531
0.230
Why?
Prognosis
5
2021
4866
0.230
Why?
Zebrafish
3
2023
416
0.230
Why?
Trans-Activators
2
2025
695
0.220
Why?
Hearing Loss, Sensorineural
2
2020
156
0.220
Why?
Genotype
5
2025
2589
0.220
Why?
Smith-Magenis Syndrome
1
2025
107
0.220
Why?
Foot Deformities, Congenital
2
2024
16
0.210
Why?
Brain Diseases
3
2024
298
0.210
Why?
Autophagosomes
1
2024
27
0.210
Why?
Vacuolar Proton-Translocating ATPases
1
2024
23
0.210
Why?
Magnetic Resonance Imaging
5
2020
3751
0.210
Why?
Contracture
1
2024
26
0.210
Why?
Chromosomes, Human, Pair 9
1
2024
109
0.200
Why?
Endoplasmic Reticulum-Associated Degradation
1
2024
22
0.200
Why?
Loss of Function Mutation
2
2025
177
0.200
Why?
Gene Deletion
2
2025
767
0.200
Why?
Amino Acyl-tRNA Synthetases
1
2023
25
0.200
Why?
Neurogenesis
1
2025
206
0.200
Why?
Agammaglobulinemia
1
2023
42
0.200
Why?
Serine
1
2024
161
0.200
Why?
Adult
12
2025
31121
0.190
Why?
Histone-Lysine N-Methyltransferase
1
2024
167
0.190
Why?
RNA Helicases
2
2022
73
0.190
Why?
Nerve Tissue Proteins
4
2024
1075
0.190
Why?
Haploinsufficiency
5
2024
265
0.190
Why?
Repressor Proteins
2
2024
759
0.180
Why?
Landau-Kleffner Syndrome
1
2022
6
0.180
Why?
Lysosomes
1
2024
267
0.180
Why?
Chromosome Aberrations
2
2016
573
0.180
Why?
Single-Cell Analysis
1
2025
348
0.180
Why?
Triiodothyronine
1
2022
50
0.180
Why?
Migraine with Aura
1
2022
16
0.180
Why?
Forkhead Transcription Factors
1
2024
370
0.180
Why?
Musculoskeletal Abnormalities
1
2022
67
0.170
Why?
Minor Histocompatibility Antigens
1
2021
37
0.170
Why?
Neural Crest
1
2022
51
0.170
Why?
Organisms, Genetically Modified
1
2021
10
0.170
Why?
Fused Kidney
1
2021
2
0.170
Why?
Eye Abnormalities
1
2022
104
0.170
Why?
Induced Pluripotent Stem Cells
1
2023
236
0.170
Why?
Brain Diseases, Metabolic, Inborn
1
2021
26
0.170
Why?
Breast Neoplasms
1
2013
2601
0.170
Why?
Methyl-CpG-Binding Protein 2
1
2023
284
0.170
Why?
Autistic Disorder
2
2023
397
0.170
Why?
SKP Cullin F-Box Protein Ligases
1
2020
18
0.170
Why?
Histone Acetyltransferases
1
2021
226
0.170
Why?
Cytosol
1
2021
135
0.170
Why?
Myoclonic Epilepsies, Progressive
1
2020
13
0.160
Why?
Sequence Deletion
2
2014
515
0.160
Why?
Rubinstein-Taybi Syndrome
1
2020
16
0.160
Why?
Isoenzymes
1
2021
211
0.160
Why?
Nicotinamide-Nucleotide Adenylyltransferase
1
2020
13
0.160
Why?
Inositol
1
2020
13
0.160
Why?
Age of Onset
3
2019
591
0.160
Why?
Alleles
2
2025
1673
0.160
Why?
E1A-Associated p300 Protein
1
2020
50
0.160
Why?
Leber Congenital Amaurosis
1
2020
22
0.160
Why?
Agenesis of Corpus Callosum
2
2022
49
0.160
Why?
Transcription Factors, TFII
1
2020
8
0.160
Why?
Severity of Illness Index
3
2019
3040
0.160
Why?
RNA-Binding Proteins
2
2021
531
0.160
Why?
Adenosine Triphosphatases
1
2021
189
0.160
Why?
Inositol 1,4,5-Trisphosphate Receptors
1
2020
27
0.160
Why?
Ubiquitin-Conjugating Enzymes
1
2020
37
0.160
Why?
Hippocampus
1
2025
793
0.160
Why?
Arnold-Chiari Malformation
1
2020
51
0.160
Why?
Williams Syndrome
1
2020
42
0.160
Why?
Heart Septal Defects, Ventricular
1
2021
132
0.150
Why?
Arginine-tRNA Ligase
1
2019
9
0.150
Why?
Language Development Disorders
1
2021
177
0.150
Why?
Genetic Diseases, X-Linked
1
2020
81
0.150
Why?
Cohort Studies
4
2021
5048
0.150
Why?
Genetics, Population
1
2020
177
0.150
Why?
Sphingomyelin Phosphodiesterase
1
2019
42
0.150
Why?
Arthrogryposis
1
2019
37
0.150
Why?
Homozygote
1
2021
533
0.150
Why?
Muscular Diseases
1
2020
118
0.150
Why?
Chromosomes, Human, Pair 16
1
2020
147
0.150
Why?
DNA-Directed RNA Polymerases
1
2019
85
0.150
Why?
Adaptor Protein Complex sigma Subunits
1
2018
2
0.150
Why?
Spine
1
2020
151
0.140
Why?
Spasms, Infantile
1
2020
165
0.140
Why?
Italy
1
2018
109
0.140
Why?
Folic Acid Deficiency
1
2018
45
0.140
Why?
Hospitals, University
1
2018
103
0.140
Why?
Survival Rate
2
2020
2109
0.140
Why?
Pupil Disorders
1
2017
18
0.130
Why?
Sex Distribution
1
2018
318
0.130
Why?
Statistics, Nonparametric
1
2018
421
0.130
Why?
Age Distribution
1
2018
421
0.130
Why?
Congenital Abnormalities
1
2021
328
0.130
Why?
Carbohydrate Metabolism, Inborn Errors
1
2017
39
0.130
Why?
Diffusion Tensor Imaging
1
2019
255
0.130
Why?
Gain of Function Mutation
1
2017
115
0.120
Why?
Analysis of Variance
1
2018
927
0.120
Why?
Mice
5
2025
18203
0.120
Why?
Cytogenetic Analysis
2
2014
78
0.120
Why?
Pilot Projects
1
2020
1440
0.120
Why?
Cerebellum
1
2020
441
0.120
Why?
Polymicrogyria
1
2016
1
0.120
Why?
Skin
1
2019
543
0.120
Why?
Pain
1
2018
437
0.120
Why?
Mitochondria
1
2021
775
0.110
Why?
Animals
7
2025
33739
0.110
Why?
Fatty Acids
1
2017
375
0.110
Why?
Disease Progression
1
2021
2192
0.110
Why?
Cross-Sectional Studies
2
2020
3815
0.100
Why?
Phosphatidylinositol 3-Kinases
1
2016
335
0.100
Why?
Transforming Growth Factor beta2
1
2014
10
0.100
Why?
Wolf-Hirschhorn Syndrome
1
2013
8
0.100
Why?
Charcot-Marie-Tooth Disease
1
2015
227
0.100
Why?
Chromosome Banding
1
2013
135
0.100
Why?
Chromosomes, Human, Pair 4
1
2013
53
0.100
Why?
Deafness
2
2024
77
0.100
Why?
Chromosome Breakage
1
2014
154
0.100
Why?
Case-Control Studies
4
2021
3351
0.100
Why?
Comorbidity
1
2018
1589
0.100
Why?
Metabolomics
1
2017
500
0.100
Why?
Loeys-Dietz Syndrome
1
2014
43
0.100
Why?
Hyperplasia
1
2013
189
0.100
Why?
CpG Islands
2
2025
336
0.090
Why?
Buttocks
1
2012
5
0.090
Why?
Psychotic Disorders
1
2014
146
0.090
Why?
Energy Metabolism
1
2017
803
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?
Mental Disorders
1
2020
907
0.090
Why?
Tricuspid Valve Insufficiency
1
2012
61
0.090
Why?
Hypoparathyroidism
1
2012
10
0.090
Why?
Hypoglycemia
1
2014
189
0.090
Why?
In Situ Hybridization, Fluorescence
1
2013
741
0.090
Why?
Ehlers-Danlos Syndrome
1
2012
52
0.090
Why?
Chromosomes, Human, Pair 10
1
2012
67
0.090
Why?
Cells, Cultured
1
2017
2883
0.090
Why?
Incontinentia Pigmenti
1
2011
16
0.090
Why?
Fibrosis
1
2013
424
0.090
Why?
Polymorphism, Single Nucleotide
1
2020
2827
0.090
Why?
Heterogeneous-Nuclear Ribonucleoprotein U
2
2022
8
0.090
Why?
Chromosomes, Human, Pair 21
1
2011
34
0.080
Why?
Aortic Valve Insufficiency
1
2012
149
0.080
Why?
Gene Silencing
1
2011
229
0.080
Why?
Chromosomes, Human, X
1
2011
154
0.080
Why?
Incidence
1
2018
3336
0.080
Why?
International Agencies
2
2020
28
0.080
Why?
Mitral Valve Insufficiency
1
2012
178
0.080
Why?
Myelodysplastic Syndromes
1
2011
125
0.080
Why?
Retrospective Studies
4
2022
17653
0.080
Why?
Brain Neoplasms
1
2019
1306
0.070
Why?
Gene Rearrangement
1
2011
322
0.070
Why?
Risk Assessment
1
2018
3687
0.070
Why?
Homeodomain Proteins
2
2024
555
0.070
Why?
Mitochondrial Proteins
2
2023
283
0.070
Why?
Aged, 80 and over
1
2019
6772
0.070
Why?
Middle Aged
4
2022
28424
0.070
Why?
Genetic Variation
1
2014
1555
0.060
Why?
Aged
3
2022
20899
0.060
Why?
Skin Abnormalities
2
2020
34
0.060
Why?
Electroencephalography
2
2022
859
0.060
Why?
Microtubules
1
2025
132
0.050
Why?
Thyroid Hormones
1
2025
54
0.050
Why?
Histocompatibility Antigens
1
2024
17
0.050
Why?
Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
1
2024
64
0.050
Why?
Brain Chemistry
1
2024
110
0.050
Why?
Protein Isoforms
1
2025
423
0.050
Why?
Prosencephalon
1
2024
39
0.050
Why?
Molecular Imaging
1
2024
58
0.050
Why?
Chromosomes, Human, Pair 17
1
2025
363
0.050
Why?
POU Domain Factors
1
2023
9
0.050
Why?
United States
1
2019
12009
0.050
Why?
Mass Spectrometry
1
2024
358
0.050
Why?
DNA, Intergenic
1
2022
18
0.050
Why?
RNA Recognition Motif Proteins
1
2022
19
0.050
Why?
Poly-ADP-Ribose Binding Proteins
1
2022
28
0.050
Why?
p120 GTPase Activating Protein
1
2022
7
0.050
Why?
Gene Duplication
1
2023
358
0.040
Why?
Sodium-Potassium-Exchanging ATPase
1
2022
64
0.040
Why?
DNA, Mitochondrial
1
2023
232
0.040
Why?
Ubiquitin-Protein Ligases
1
2024
354
0.040
Why?
Transcriptional Elongation Factors
1
2021
28
0.040
Why?
Pregnancy
1
2014
7475
0.040
Why?
Protein Stability
1
2021
165
0.040
Why?
CCCTC-Binding Factor
1
2020
14
0.040
Why?
Syringomyelia
1
2020
17
0.040
Why?
GTP-Binding Proteins
1
2021
156
0.040
Why?
KCNQ3 Potassium Channel
1
2020
18
0.040
Why?
Epileptic Syndromes
1
2020
35
0.040
Why?
NAD
1
2020
52
0.040
Why?
GTP-Binding Protein alpha Subunits, Gi-Go
1
2020
21
0.040
Why?
Signal Transduction
2
2024
4664
0.040
Why?
Cleavage And Polyadenylation Specificity Factor
1
2020
15
0.040
Why?
Chromosomes, Human, Pair 7
1
2020
77
0.040
Why?
Retinal Degeneration
1
2020
84
0.040
Why?
Frameshift Mutation
1
2020
199
0.040
Why?
Heart Diseases
1
2024
494
0.040
Why?
Gene Frequency
1
2021
728
0.040
Why?
Mitosis
1
2019
191
0.040
Why?
DNA Mutational Analysis
1
2020
775
0.040
Why?
Proteins
1
2024
1006
0.030
Why?
Endoplasmic Reticulum
1
2019
208
0.030
Why?
Urogenital Abnormalities
1
2020
154
0.030
Why?
RNA Splicing
1
2019
236
0.030
Why?
Transcription, Genetic
1
2023
1362
0.030
Why?
Evolution, Molecular
1
2021
645
0.030
Why?
Models, Molecular
1
2021
1061
0.030
Why?
HeLa Cells
1
2019
688
0.030
Why?
Cell Lineage
1
2019
344
0.030
Why?
Diagnosis, Differential
2
2013
1874
0.030
Why?
Genetic Testing
1
2024
1105
0.030
Why?
Reproducibility of Results
1
2024
2897
0.030
Why?
Amino Acid Sequence
1
2021
2392
0.030
Why?
Treatment Outcome
2
2024
12854
0.030
Why?
Drug Resistant Epilepsy
1
2020
287
0.030
Why?
Family
1
2020
587
0.030
Why?
DNA
1
2022
1397
0.030
Why?
HEK293 Cells
1
2019
802
0.030
Why?
Genomics
1
2025
1620
0.030
Why?
Cell Differentiation
1
2023
1918
0.030
Why?
Mice, Knockout
1
2024
3820
0.030
Why?
High-Throughput Nucleotide Sequencing
1
2020
889
0.030
Why?
Neurologic Examination
1
2015
185
0.030
Why?
GTP Phosphohydrolases
1
2015
155
0.030
Why?
Quality of Life
1
2024
2076
0.030
Why?
Gene Expression Profiling
1
2019
1800
0.020
Why?
Collagen Type I
1
2012
110
0.020
Why?
Joint Instability
1
2012
55
0.020
Why?
GATA3 Transcription Factor
1
2012
43
0.020
Why?
I-kappa B Kinase
1
2011
54
0.020
Why?
Monosomy
1
2011
24
0.020
Why?
DiGeorge Syndrome
1
2012
83
0.020
Why?
Core Binding Factor Alpha 2 Subunit
1
2011
40
0.020
Why?
Trisomy
1
2011
111
0.020
Why?
Enzyme Inhibitors
1
2012
560
0.020
Why?
Disease Models, Animal
1
2020
4650
0.020
Why?
Histones
1
2011
541
0.020
Why?
RNA, Messenger
1
2011
2544
0.010
Why?
Obesity
1
2013
2416
0.010
Why?
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