Alpha 2.0
Login Register
» Authors » Maurizio Genuardi

Maurizio Genuardi

Explore the profile of Maurizio Genuardi including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 144
Citations 3359
Followers 0
Related Specialties
Genetics
Oncology
Gastroenterology
Top 10 Co-Authors
Laura Papi
Emanuela Lucci-Cordisco
Stefan Aretz
Maurizio Ponz de Leon
Alessandra Viel
Gabriel Capella
Liliana Varesco
Francesca Gensini
D Gareth Evans
Marta Pineda
Published In
Eur J Hum Genet
Hum Mutat
Genet Med
Genes (Basel)
Am J Med Genet A
Affiliations
Soon will be listed here.
Recent Articles
1.
Exome-based cancer predisposition gene testing can provide a genetic diagnosis for individuals with heterogeneous tumor phenotypes
Hinic S, Mensenkamp A, Schuurs-Hoeijmakers J, Brugnoletti F, Vreede L, van Veen E, et al.
Eur J Hum Genet . 2025 Feb; PMID: 39979679
The development of multiple primary tumors is one of the hallmarks of hereditary cancer. The phenotypic presentation of individuals with multiple primary tumors is often heterogeneous, which hampers the establishment...
2.
Environmental maternal exposures and the risk of premature birth and intrauterine growth restriction: The Generation Gemelli study protocol of newborn exposome
Villani L, Pezzullo A, Pastorino R, Maio A, Stollagli F, Tirone C, et al.
PLoS One . 2025 Jan; 20(1):e0317458. PMID: 39820939
Background: The study of women exposures and child outcomes occurring in the first 1,000 days of life since conception enhances understanding of the relationships between environmental factors, epigenetic changes, and...
3.
Bridging the educational gaps of health professionals in oncogenomics: results from a pilot e-learning course
Stellacci E, Martinelli S, Carbone P, Demuru E, Genuardi M, Ghiorzo P, et al.
Front Med (Lausanne) . 2024 Dec; 11:1422163. PMID: 39640978
Background: Genetic and genomic literacy of health professionals is of utmost importance to realize the full potential of personalized medicine. As part of a European Union project, we piloted an...
4.
Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS
Yin X, Richardson M, Laner A, Shi X, Ognedal E, Vasta V, et al.
Am J Hum Genet . 2024 Oct; 111(11):2427-2443. PMID: 39357517
Pathogenic constitutional APC variants underlie familial adenomatous polyposis, the most common hereditary gastrointestinal polyposis syndrome. To improve variant classification and resolve the interpretative challenges of variants of uncertain significance (VUSs),...
5.
Routinely Updating Patients With Cancer About Variant of Uncertain Significance Reclassifications: A Premature Responsibility for Community Oncologists
Battistuzzi L, Puccini A, Sciallero S, Genuardi M
J Clin Oncol . 2024 Sep; 42(36):4352-4353. PMID: 39288353
No abstract available.
6.
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules
Mastromoro G, Santoro C, Motta M, Sorrentino U, Daniele P, Peduto C, et al.
Genet Med . 2024 Aug; 26(11):101241. PMID: 39140257
Purpose: Pathogenic LZTR1 variants cause schwannomatosis and dominant/recessive Noonan syndrome (NS). We aim to establish an association between heterozygous loss-of-function LZTR1 alleles and isolated multiple café-au-lait macules (CaLMs). Methods: A...
7.
ERN GENTURIS clinical practice guidelines for the diagnosis, surveillance and management of people with Birt-Hogg-Dubé syndrome
Geilswijk M, Genuardi M, Woodward E, Nightingale K, Huber J, Madsen M, et al.
Eur J Hum Genet . 2024 Jul; 32(12):1542-1550. PMID: 39085584
Birt-Hogg-Dubé syndrome (BHD syndrome) is an autosomal dominant multisystem disorder with variable expression due to pathogenic constitutional variants in the FLCN gene. Patients with BHD syndrome are predisposed to benign...
8.
Multigenic panels in breast cancer: Clinical utility and management of patients with pathogenic variants other than BRCA1/2
Fabi A, Cortesi L, Duranti S, Cordisco E, Di Leone A, Terribile D, et al.
Crit Rev Oncol Hematol . 2024 Jul; 201:104431. PMID: 38977141
Multigene panels can analyze high and moderate/intermediate penetrance genes that predispose to breast cancer (BC), providing an opportunity to identify at-risk individuals within affected families. However, considering the complexity of...
9.
Genetic counselling legislation and practice in cancer in EU Member States
McCrary J, Van Valckenborgh E, Poirel H, de Putter R, van Rooij J, Horgan D, et al.
Eur J Public Health . 2024 Jun; 34(4):666-675. PMID: 38905592
Background: Somatic and germline genetic alterations are significant drivers of cancer. Increasing integration of new technologies which profile these alterations requires timely, equitable and high-quality genetic counselling to facilitate accurate...
10.
Systematic large-scale application of ClinGen InSiGHT -specific ACMG/AMP variant classification criteria substantially alleviates the burden of variants of uncertain significance in ClinVar and LOVD databases
Yin X, Richardson M, Laner A, Shi X, Ognedal E, Vasta V, et al.
medRxiv . 2024 May; PMID: 38746299
Background: Pathogenic constitutional variants underlie familial adenomatous polyposis, the most common hereditary gastrointestinal polyposis syndrome. To improve variant classification and resolve the interpretative challenges of variants of uncertain significance (VUS),...