Jole Costanza

A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability: a case report

S. Orcesi, D. Milani, M. Miozzo, 2020, Italian Journal of Pediatrics.

Assessment of pregnancy dietary intake and association with maternal and neonatal outcomes

E. Ferrazzi, F. Parazzini, F. Mosca, 2021, Pediatric Research.

Novel Pathogenetic Variants in PTHLH and TRPS1 Genes Causing Syndromic Brachydactyly

P. Messa, M. Arosio, D. Milani, 2021, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

A HS6ST2 gene variant associated with X‐linked intellectual disability and severe myopia in two male twins

D. Milani, L. Riboni, M. Chetta, 2018, Clinical genetics.

Extensive Placental Methylation Profiling in Normal Pregnancies

E. Ferrazzi, S. Bosari, D. Gentilini, 2021, International journal of molecular sciences.

Pitfalls of whole exome sequencing in undefined clinical conditions with a suspected genetic etiology

G. Scuvera, M. Bedeschi, D. Milani, 2022, Genes & Genomics.

The Genetic Landscape of Human Glioblastoma and Matched Primary Cancer Stem Cells Reveals Intratumour Similarity and Intertumour Heterogeneity

A. Terrasi, M. Miozzo, M. Locatelli, 2019, Stem cells international.

(Epi)genetic profiling of extraembryonic and postnatal tissues from female monozygotic twins discordant for Beckwith–Wiedemann syndrome

Matteo Porro, M. Bedeschi, M. Miozzo, 2020, Molecular genetics & genomic medicine.

PTEN Expression as a Complementary Biomarker for Mismatch Repair Testing in Breast Cancer

S. Maggi, M. Noale, S. Bosari, 2020, International journal of molecular sciences.

Analysis of BRCA1 and RAD51C Promoter Methylation in Italian Families at High-Risk of Breast and Ovarian Cancer

S. Manoukian, B. Peissel, M. Miozzo, 2020, Cancers.

Rare Atg7 Genetic Variants Predispose to Severe Fatty Liver Disease

L. N. Valenti, H. Reeves, J. Pihlajamäki, 2021 .

Molecular Insights into the Classification of Luminal Breast Cancers: The Genomic Heterogeneity of Progesterone-Negative Tumors

M. Miozzo, L. Fontana, G. Lopez, 2019, International journal of molecular sciences.