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Genovese, Silvia
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1

A Case of CDKL5 Deficiency Due to an X Chromosome Pericentr..:

Lombardo, Antonietta ; Sinibaldi, Lorenzo ; Genovese, Silvia...
International Journal of Molecular Sciences.  25 (2024)  13 - p. 6912 , 2024
Link: https://doi.org/10.3390/..
 
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2

METB-04. UTILITY OF OPTICAL GENOME MAPPING IN THE CHARACTER..:

alesi, viola ; Genovese, Silvia ; Russo, Serena...
Neuro-Oncology.  26 (2024)  Supplement_4 - p. 0-0 , 2024
Link: https://doi.org/10.1093/..
 
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3

PATZ1-Rearranged Tumors of the Central Nervous System: Char..:

Rossi, Sabrina ; Barresi, Sabina ; Colafati, Giovanna Stefania...
Modern Pathology.  37 (2024)  2 - p. 100387 , 2024
Link: https://doi.org/10.1016/..
 
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4

Deep Intronic LINE-1 Insertions in NF1: Expanding the Spect..:

Alesi, Viola ; Genovese, Silvia ; Lepri, Francesca Romana...
Biomolecules.  13 (2023)  5 - p. 725 , 2023
Link: https://doi.org/10.3390/..
 
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5

HuR modulation counteracts lipopolysaccharide response in m..:

Bonomo, Isabelle ; Assoni, Giulia ; La Pietra, Valeria...
Disease Models & Mechanisms.  16 (2023)  3 - p. , 2023
Link: https://doi.org/10.1242/..
 
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6

A non‐hemispheric transtentorial ZFTA fusion‐positive epend..:

Cardoni, Antonello ; Barresi, Sabina ; Piccirilli, Eleonora...
Neuropathology and Applied Neurobiology.  49 (2023)  1 - p. , 2023
Link: https://doi.org/10.1111/..
 
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7

A Complex Genomic Rearrangement Resulting in Loss of Functi..:

Orlando, Valeria ; Di Tommaso, Silvia ; Alesi, Viola...
International Journal of Molecular Sciences.  23 (2022)  21 - p. 12900 , 2022
Link: https://doi.org/10.3390/..
 
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8

Intragenic inversions in NF1 gene as pathogenic mechanism i..:

Alesi, Viola ; Lepri, Francesca Romana ; Dentici, Maria Lisa...
European Journal of Human Genetics.  30 (2022)  11 - p. 1239-1243 , 2022
Link: https://doi.org/10.1038/..
 
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9

Cardiovascular Involvement in Pediatric FLNC Variants: A Ca..:

Baban, Anwar ; Alesi, Viola ; Magliozzi, Monia...
Journal of Cardiovascular Development and Disease.  9 (2022)  10 - p. 332 , 2022
Link: https://doi.org/10.3390/..
 
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10

"Atypical" Krabbe disease in two siblings harboring biallel..:

Nicita, Francesco ; Stregapede, Fabrizia ; Deodato, Federica...
European Journal of Human Genetics.  30 (2022)  8 - p. 984-988 , 2022
Link: https://doi.org/10.1038/..
 
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11

Reciprocal Xp11.4p11.3 microdeletion/microduplication spann..:

Catino, Giorgia ; Genovese, Silvia ; Di Tommaso, Silvia...
American Journal of Medical Genetics Part A.  188 (2022)  6 - p. 1836-1847 , 2022
Link: https://doi.org/10.1002/..
 
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12

A New Intronic Variant in ECEL1 in Two Patients with Distal..:

Alesi, Viola ; Sessini, Francesca ; Genovese, Silvia...
International Journal of Molecular Sciences.  22 (2021)  4 - p. 2106 , 2021
Link: https://doi.org/10.3390/..
 
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13

Homozygous HESX1 and COL1A1 Gene Variants in a Boy with Gro..:

Alesi, Viola ; Dentici, Maria Lisa ; Genovese, Silvia...
International Journal of Molecular Sciences.  22 (2021)  2 - p. 750 , 2021
Link: https://doi.org/10.3390/..
 
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14

TSPEAR variants are primarily associated with ectodermal dy..:

Bowles, Bradley ; Ferrer, Alejandro ; Nishimura, Carla J....
American Journal of Medical Genetics Part A.  185 (2021)  8 - p. 2417-2433 , 2021
Link: https://doi.org/10.1002/..
 
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15

Congenital heart defects in molecularly confirmed KBG syndr..:

Digilio, Maria Cristina ; Calcagni, Giulio ; Gnazzo, Maria...
American Journal of Medical Genetics Part A.  188 (2021)  4 - p. 1149-1159 , 2021
Link: https://doi.org/10.1002/..
 
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