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Nigro, Vincenzo
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1

Biallelic loss-of-function variants in CACHD1 cause a novel..:

Scala, Marcello ; Khan, Kamal ; Beneteau, Claire...
Genetics in Medicine.  26 (2024)  4 - p. 101057 , 2024
Link: https://doi.org/10.1016/..
 
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2

Bi-allelic variants in CELSR3 are implicated in central ner..:

Stegmann, Jil D. ; Kalanithy, Jeshurun C. ; Dworschak, Gabriel C....
npj Genomic Medicine.  9 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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3

Structural variant calling and clinical interpretation in 6..:

Demidov, German ; Laurie, Steven ; Torella, Annalaura...
European Journal of Human Genetics.  32 (2024)  8 - p. 998-1004 , 2024
Link: https://doi.org/10.1038/..
 
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4

Biallelic loss-of-function variants of SLC12A9 cause lysoso..:

Accogli, Andrea ; Park, Young N. ; Lenk, Guy M....
Genetics in Medicine.  26 (2024)  5 - p. 101097 , 2024
Link: https://doi.org/10.1016/..
 
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5

Joint contractures is a recurrent clinical feature of indiv..:

Peduto, Cristina ; Cappuccio, Gerarda ; Zeuli, Roberta...
American Journal of Medical Genetics Part A.  , 2024
Link: https://doi.org/10.1002/..
 
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6

Phenotypic Variability of Andersen–Tawil Syndrome Due to Al..:

Onore, Maria Elena ; Picillo, Esther ; D'Ambrosio, Paola...
Biomolecules.  14 (2024)  4 - p. 507 , 2024
Link: https://doi.org/10.3390/..
 
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7

Clustered de novo start-loss variants in GLUL result in a d..:

Jones, Amy G. ; Aquilino, Matilde ; Tinker, Rory J....
The American Journal of Human Genetics.  111 (2024)  4 - p. 729-741 , 2024
Link: https://doi.org/10.1016/..
 
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8

Model matchmaking via the Solve-RD Rare Disease Models & Me..:

Ellwanger, Kornelia ; Brill, Julie A. ; de Boer, Elke...
Lab Animal.  53 (2024)  7 - p. 161-165 , 2024
Link: https://doi.org/10.1038/..
 
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9

DAG1 haploinsufficiency is associated with sporadic and fam..:

Traverso, Monica ; Baratto, Serena ; Iacomino, Michele...
European Journal of Human Genetics.  , 2024
Link: https://doi.org/10.1038/..
 
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10

CHAMP1-related disorders: pathomechanisms triggered by diff..:

Amenta, Simona ; Marangi, Giuseppe ; Orteschi, Daniela...
European Journal of Human Genetics.  31 (2023)  6 - p. 648-653 , 2023
Link: https://doi.org/10.1038/..
 
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11

A novel in‐frame deletion in MYOT causes an early adult ons..:

Guglielmi, Valeria ; Pancheri, Elia ; Cannone, Elena...
Clinical Genetics.  104 (2023)  6 - p. 705-710 , 2023
Link: https://doi.org/10.1111/..
 
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12

Dissecting genetics of spectrum of epilepsies with eyelid m..:

Coppola, Antonietta ; Krithika, S. ; Iacomino, Michele...
Epilepsia.  65 (2023)  3 - p. 779-791 , 2023
Link: https://doi.org/10.1111/..
 
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13

Next-Generation Sequencing (NGS) Analysis Illustrates the P..:

Zacchia, Miriam ; Capolongo, Giovanna ; Del Vecchio Blanco, Francesca...
Genes.  14 (2023)  3 - p. 764 , 2023
Link: https://doi.org/10.3390/..
 
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14

Two Cases of Myofibrillar Myopathies: Genetic and Quality o..:

Angelini, Corrado ; Ceolin, Chiara ; Rodriguez, Alicia Aurora.
Muscles.  2 (2023)  2 - p. 177-186 , 2023
Link: https://doi.org/10.3390/..
 
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15

Novel variants in genes related to vesicle-mediated-transpo..:

Goldstein, Orly ; Gana-Weisz, Mali ; Banfi, Sandro...
Molecular Genetics and Metabolism.  139 (2023)  2 - p. 107608 , 2023
Link: https://doi.org/10.1016/..
 
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