F. Cristofoli

发表

Novel STIL Compound Heterozygous Mutations Cause Severe Fetal Microcephaly and Centriolar Lengthening

J. Vermeesch, H. Van Esch, L. de Catte, 2017, Molecular Syndromology.

Integration of VarSome API in an existing bioinformatic pipeline for automated ACMG interpretation of clinical variants.

S. Paolacci, G. Marceddu, C. Modena, 2021, European review for medical and pharmacological sciences.

Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type.

Martin W. Breuss, D. Keays, J. Vermeesch, 2015, American journal of human genetics.

Coffin–Siris and Nicolaides–Baraitser syndromes are a common well recognizable cause of intellectual disability

J. Vermeesch, P. Rubegni, M. Fimiani, 2015, Brain and Development.

Genetic testing in vascular and lymphatic malformations

E. Manara, S. Michelini, M. Bertelli, 2021 .

Optic Nerve Hypoplasia Is a Pervasive Subcortical Pathology of Visual System in Neonates

H. Van Esch, K. Mukherjee, C. Liang, 2017, Investigative ophthalmology & visual science.

Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

Kali T. Witherspoon, Bradley P. Coe, R Bernier, 2016, Molecular Psychiatry.

CREBBP mutations in individuals without Rubinstein–Taybi syndrome phenotype

R. Pfundt, H. Peeters, D. Horn, 2016, American journal of medical genetics. Part A.

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

T. de Ravel, K. Devriendt, H. Van Esch, 2015, Orphanet Journal of Rare Diseases.

Bacteriophages presence in nature and their role in the natural selection of bacterial populations

T. Beccari, P. Maltese, M. Bertelli, 2020, Acta bio-medica : Atenei Parmensis.

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

K. Devriendt, J. Vermeesch, B. Gener, 2013, Human molecular genetics.

Variant Selection and Interpretation: An Example of Modified VarSome Classifier of ACMG Guidelines in the Diagnostic Setting

P. Chiurazzi, M. Castori, P. Maltese, 2021, Genes.

Polymerase specific error rates and profiles identified by single molecule sequencing.

J. Vermeesch, M. Hestand, J. Van Houdt, 2016, Mutation research.

Genotypic and phenotypic variation in six patients with solitary median maxillary central incisor syndrome

K. Devriendt, J. Vermeesch, A. Verdonck, 2015, American journal of medical genetics. Part A.

Novel CASK mutations in cases with syndromic microcephaly

K. Devriendt, J. Vermeesch, H. Van Esch, 2018, Human mutation.

De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity.

K. Devriendt, J. Vermeesch, M. Bollen, 2020, American journal of human genetics.

Spectral-Domain Optical Coherence Tomography Analysis in Syndromic and Nonsyndromic Forms of Retinitis Pigmentosa due to USH2A Genetic Variants

M. Castori, P. Maltese, M. Bertelli, 2021, Ophthalmic Research.

A simultaneous next-generation sequencing approach to the diagnosis of couple infertility.

V. Precone, M. Castori, Angelantonio Notarangelo, 2021, Minerva endocrinology.

MAGI-ACMG: Algorithm for the Classification of Variants According to ACMG and ACGS Recommendations

V. Gatta, P. Chiurazzi, P. Maltese, 2023, Genes.

CNV analysis in a diagnostic setting using target panel.

M. Daja, S. Paolacci, G. Marceddu, 2021, European review for medical and pharmacological sciences.

SD-OCT analysis in syndromic and non-syndromic forms of retinitis pigmentosa due to USH2A gene mutations.

M. Castori, P. Maltese, M. Bertelli, 2021, Ophthalmic research.