Clinical exome sequencing for diagnosing severe cryptogenic liver disease in adults: A case series-Reference-Cited by-同舟云学术

Clinical exome sequencing for diagnosing severe cryptogenic liver disease in adults: A case series

Published:2022-02-15 Issue:4 Volume:42 Page:864-870
ISSN:1478-3223
Container-title:Liver International
language:en
Short-container-title:Liver International

Author:

Pelusi Serena¹,Ronzoni Luisa¹^ORCID,Malvestiti Francesco²,Bianco Cristiana¹,Marini Ilaria¹,D'Ambrosio Roberta³^ORCID,Giannotta Juri Alessandro⁴,Soardo Giorgio⁵,Maggioni Marco⁶,Prati Daniele¹^ORCID,Valenti Luca¹²^ORCID

Affiliation:

1. Precision Medicine ‐ Department of Transfusion Medicine and Hematology Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano Milan Italy

2. Department of Pathophysiology and Transplantation Università degli Studi di Milano Milan Italy

3. Division of Gastroenterology and Hepatology, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano Milan Italy

4. Hematology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano Milan Italy

5. Clinic of Internal Medicine‐Liver Unit, Department of Medical Area (DAME) Università degli Studi di Udine Udine Italy

6. Department of Pathology Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano Milan Italy

Publisher

Wiley

Subject

Hepatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/liv.15185

Reference20 articles.

1. Clinical utility of genomic analysis in adults with idiopathic liver disease

2. Rare Pathogenic Variants Predispose to Hepatocellular Carcinoma in Nonalcoholic Fatty Liver Disease

3. Causal relationship of hepatic fat with liver damage and insulin resistance in nonalcoholic fatty liver

4. Non-invasive stratification of hepatocellular carcinoma risk in non-alcoholic fatty liver using polygenic risk scores

5. Variable expressivity and co‐occurrence of LDLR and LDLRAP1 mutations in familial hypercholesterolemia: failure of the dominant and recessive dichotomy

Cited by 12 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. EASL–EASD–EASO Clinical Practice Guidelines on the management of metabolic dysfunction-associated steatotic liver disease (MASLD);Journal of Hepatology;2024-09

2. Whole‐exome sequencing for genetic diagnosis of idiopathic liver injury in children;Journal of Cellular and Molecular Medicine;2024-06

3. The contribution of genetics and epigenetics to MAFLD susceptibility;Hepatology International;2024-04-25

4. EASL-EASD-EASO Clinical Practice Guidelines on the Management of Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD);Obesity Facts;2024

5. The diagnostic yield of exome sequencing in liver diseases from a curated gene panel;Scientific Reports;2023-12-06