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Maurizio Genuardi

Explore the profile of Maurizio Genuardi including associated specialties, affiliations and a list of published articles. Areas
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Articles 144
Citations 3359
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Recent Articles
1.
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.
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.
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.
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.
Battistuzzi L, Puccini A, Sciallero S, Genuardi M
J Clin Oncol . 2024 Sep; 42(36):4352-4353. PMID: 39288353
No abstract available.
6.
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.
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.
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.
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.
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),...