A. Calcia

发表

Two families with novel missense mutations in COL4A1: When diagnosis can be missed

E. Gregorio, G. Vaula, L. Pinessi, 2015, Journal of the Neurological Sciences.

Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH

A. Brusco, G. Ferrero, E. Giorgio, 2014, Molecular Cytogenetics.

A New Case of 13q12.2q13.1 Microdeletion Syndrome Contributes to Phenotype Delineation

A. Brusco, G. Mandrile, D. Giachino, 2014, Case reports in genetics.

A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity

A. Brusco, G. Ferrero, E. Giorgio, 2016, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

CNVs analysis in a cohort of isolated and syndromic DD / ID reveals novel genomic disorders , position effects and candidate disease genes

Naretto, J. Buxbaum, M. Spielmann, 2022 .

Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes

J. Buxbaum, M. Spielmann, P. Provero, 2017, Clinical genetics.

Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof‐of‐concept examples

V. Caputo, A. Bruselles, M. Tartaglia, 2016, American journal of medical genetics. Part A.

Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications

B. Pasini, E. Gregorio, A. Brusco, 2016 .

Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications

B. Pasini, A. Brusco, G. Ferrero, 2015, Cytogenetic and Genome Research.

Bilaterally cleft lip and bilateral thumb polydactyly with triphalangeal component in a patient with two De novo deletions of HSA 4q32 and 4q34 involving PDGFC, GRIA2, and FBXO8 genes

A. Brusco, N. Migone, E. Grosso, 2013, American journal of medical genetics. Part A.

790 Kb microduplication in chromosome band 17p13.1 associated with intellectual disability, afebrile seizures, dysmorphic features, diabetes, and hypothyroidism.

A. Brusco, G. Ferrero, M. Silengo, 2012, European journal of medical genetics.

Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes.

V. Caputo, A. Bruselles, M. Tartaglia, 2017, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

ELOVL5 mutations cause spinocerebellar ataxia 38.

F. Tempia, A. Durr, M. Papotti, 2014, American journal of human genetics.

REPORT ELOVL5 Mutations Cause Spinocerebellar Ataxia 38

F. Tempia, A. Durr, M. Papotti, 2014 .

A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia

F. Tempia, A. Durr, S. Forlani, 2013, Journal of Medical Genetics.