Fabio Sirchia

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The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders

U. Dianzani, I. Rabbone, G. Mandrile, 2022, Frontiers in Genetics.

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.

N. Guex, N. Brown, W. Chung, 2021, American journal of human genetics.

Variants in the degron of AFF3 cause a multi-system disorder with mesomelic dysplasia, horseshoe kidney and developmental and epileptic encephalopathy

N. Guex, N. Brown, W. Chung, 2019, bioRxiv.

When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort

T. Mazza, A. Pizzuti, M. Tartaglia, 2021, Genetics in Medicine.

Biallelic mutations in PSMC3IP are associated with secondary amenorrhea: expanding the spectrum of premature ovarian insufficiency

E. Valente, E. Giorgio, F. Sirchia, 2022, Journal of Assisted Reproduction and Genetics.

Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations

A. Morgan, M. Brumat, P. Gasparini, 2018, Front. Genet..

Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease

G. Rice, M. Frémond, A. Lepelley, 2024, Journal of clinical immunology.

Prevalence and phenotype of the c.1529C>T SPG7 variant in adult‐onset cerebellar ataxia in Italy

G. De Michele, A. Filla, A. Tessa, 2018, European journal of neurology.

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.

Expanding the Natural History of SNORD118-Related Ribosomopathy: Hints from an Early-Diagnosed Patient with Leukoencephalopathy with Calcifications and Cysts and Overview of the Literature

A. Pichiecchio, E. Rognone, F. Sirchia, 2023, Genes.

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 .

Clinical and molecular characterization of patients affected by Beckwith‐Wiedemann spectrum conceived through assisted reproduction techniques

C. Leoni, G. Ferrero, G. Cocchi, 2022, Clinical genetics.

Expanding the phenotype of Brunner syndrome from childhood to adulthood: Description of the second pediatric patient and his mother

E. Valente, V. Rizzo, F. Sirchia, 2023, American journal of medical genetics. Part A.

SETBP1 variants outside the degron disrupt DNA-binding and transcription independent of protein abundance to cause a heterogeneous neurodevelopmental disorder

I. Scheffer, B. D. de Vries, S. Fisher, 2022, medRxiv.