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Gerarda Cappuccio
Gerarda Cappuccio
Federico II University
Verified email at unina.it
Title
Cited by
Cited by
Year
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
T Wang, K Hoekzema, D Vecchio, H Wu, A Sulovari, BP Coe, ...
Nature communications 11 (1), 4932, 2020
1482020
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders
MA Levy, H McConkey, J Kerkhof, M Barat-Houari, S Bargiacchi, ...
Human Genetics and Genomics Advances 3 (1), 2022
1052022
Paralog studies augment gene discovery: DDX and DHX genes
I Paine, JE Posey, CM Grochowski, SN Jhangiani, S Rosenheck, ...
The American Journal of Human Genetics 105 (2), 302-316, 2019
642019
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study
S Groeneweg, FS van Geest, A Abacı, A Alcantud, GP Ambegaonkar, ...
The Lancet Diabetes & Endocrinology 8 (7), 594-605, 2020
612020
Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum
TR Donti, G Cappuccio, L Hubert, J Neira, PS Atwal, MJ Miller, AL Cardon, ...
Molecular genetics and metabolism reports 8, 61-66, 2016
582016
De novo heterozygous POLR2A variants cause a neurodevelopmental syndrome with profound infantile-onset hypotonia
HA Haijes, MJE Koster, H Rehmann, D Li, H Hakonarson, G Cappuccio, ...
The American Journal of Human Genetics 105 (2), 283-301, 2019
542019
Loss of SMPD4 causes a developmental disorder characterized by microcephaly and congenital arthrogryposis
P Magini, DJ Smits, L Vandervore, R Schot, M Columbaro, E Kasteleijn, ...
The American Journal of Human Genetics 105 (4), 689-705, 2019
512019
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature
D Rots, E Chater-Diehl, AJM Dingemans, SJ Goodman, MT Siu, ...
The American Journal of Human Genetics 108 (6), 1053-1068, 2021
442021
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct …
G Cappuccio, C Sayou, PL Tanno, E Tisserant, AL Bruel, SE Kennani, ...
Genetics in Medicine 22 (11), 1838-1850, 2020
442020
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females
M Scala, A Torella, M Severino, G Morana, R Castello, A Accogli, ...
European Journal of Human Genetics 27 (8), 1254-1259, 2019
402019
DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome
LC Schenkel, E Aref-Eshghi, K Rooney, J Kerkhof, MA Levy, H McConkey, ...
Clinical epigenetics 13, 1-17, 2021
372021
New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants
G Cappuccio, F Vitiello, A Casertano, P Fontana, R Genesio, D Bruzzese, ...
Italian journal of pediatrics 42, 1-11, 2016
362016
De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia
G Terrone, N Voisin, A Abdullah Alfaiz, G Cappuccio, G Vitiello, N Guex, ...
European Journal of Human Genetics 24 (9), 1359-1362, 2016
332016
Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders
MA Levy, R Relator, H McConkey, E Pranckeviciene, J Kerkhof, ...
Human mutation 43 (11), 1609-1628, 2022
322022
Rare and de novo coding variants in chromodomain genes in Chiari I malformation
B Sadler, J Wilborn, L Antunes, T Kuensting, AT Hale, SR Gannon, ...
The American Journal of Human Genetics 108 (1), 100-114, 2021
312021
Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet
G Cappuccio, M Pinelli, M Alagia, T Donti, DL Day-Salvatore, P Veggiotti, ...
PLoS One 12 (9), e0184022, 2017
312017
A case of 14q11. 2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf–Hirschhorn syndrome
G Terrone, G Cappuccio, R Genesio, A Esposito, V Fiorentino, M Riccitelli, ...
American Journal of Medical Genetics Part A 164 (1), 190-193, 2014
302014
Clinical description of a patient carrying the smallest reported deletion involving 10p14 region
D Melis, R Genesio, P Boemio, E Del Giudice, G Cappuccio, A Mormile, ...
American Journal of Medical Genetics Part A 158 (4), 832-835, 2012
302012
Expanding the phenotype of DST‐related disorder: A case report suggesting a genotype/phenotype correlation
G Cappuccio, M Pinelli, A Torella, M Alagia, R Auricchio, A Staiano, ...
American Journal of Medical Genetics Part A 173 (10), 2743-2746, 2017
292017
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes
M Scala, M Nishikawa, H Ito, H Tabata, T Khan, A Accogli, L Davids, ...
Brain 145 (9), 3308-3327, 2022
272022
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