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Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation

R. Tenconi, S. Furini, A. Pinto, 2016, Brain and Development.

Expanding the genetic and clinical characteristics of Protocadherin 19 gene mutations

P. Striano, A. Verrotti, P. Prontera, 2022, BMC Medical Genomics.

Schilbach–Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene

G. Merla, A. Mencarelli, P. Prontera, 2019, European Journal of Human Genetics.

Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype

M. Digilio, C. Leoni, A. Novelli, 2021, American journal of medical genetics. Part A.

Compound Heterozygous Missense and Deep Intronic Variants in NDUFAF6 Unraveled by Exome Sequencing and mRNA Analysis

E. Bertini, R. Carrozzo, M. Zeviani, 2018, Journal of Human Genetics.

A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in LTBP3

A. Bruselles, M. Tartaglia, G. Merla, 2021, Genes.

iPSC‐derived neurons profiling reveals GABAergic circuit disruption and acetylated &agr;‐tubulin defect which improves after iHDAC6 treatment in Rett syndrome

F. Vaccarino, Flaminia C Lorenzetti, S. Furini, 2018, Experimental cell research.

Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of BRCA1/2 Variants of Uncertain Significance

P. Radice, S. Manoukian, E. Trevisson, 2019, Cancers.

Evidence of predisposing epimutation in retinoblastoma

T. Hadjistilianou, D. Galimberti, A. Pinto, 2018, Human mutation.

Identification of a DNA Methylation Episignature in the 22q11.2 Deletion Syndrome

G. Merla, A. Mencarelli, B. Sadikovic, 2021, International journal of molecular sciences.

Urine‐derived podocytes‐lineage cells: A promising tool for precision medicine in Alport Syndrome

G. Garosi, A. Pinto, C. Fallerini, 2018, Human mutation.

Potentially Treatable Disorder Diagnosed Post Mortem by Exome Analysis in a Boy with Respiratory Distress

S. Furini, C. Fallerini, A. Renieri, 2016, International journal of molecular sciences.

Combined ultrasound and exome sequencing approach recognizes Opitz G/BBB syndrome in two malformed fetuses.

S. Furini, A. Pinto, A. Renieri, 2017, Clinical dysmorphology.

Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene.

M. Zeviani, S. Furini, A. Renieri, 2016, Molecular genetics and metabolism.

Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism

T. Hadjistilianou, D. Galimberti, A. Renieri, 2015, European Journal of Human Genetics.

Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma

T. Hadjistilianou, V. Capra, E. Trevisson, 2018, European Journal of Human Genetics.

Schilbach–Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene

G. Merla, A. Mencarelli, P. Prontera, 2019, European Journal of Human Genetics.

IRF2BPL: A new genotype for progressive myoclonus epilepsies

S. Berkovic, S. Franceschetti, C. Calvello, 2023, Epilepsia.

Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation

R. Tenconi, S. Furini, A. Pinto, 2016, Brain and Development.

iPSC‐derived neurons profiling reveals GABAergic circuit disruption and acetylated &agr;‐tubulin defect which improves after iHDAC6 treatment in Rett syndrome

F. Vaccarino, Flaminia C Lorenzetti, S. Furini, 2018, Experimental cell research.