European Journal of Medical Genetics

Papers
(The H4-Index of European Journal of Medical Genetics is 16. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2020-11-01 to 2024-11-01.)
ArticleCitations
Impact of COVID-19 pandemic on patients with rare disease in Hong Kong42
von Hippel-Lindau disease: Updated guideline for diagnosis and surveillance35
The European Rare Disease Network for HHT Frameworks for management of hereditary haemorrhagic telangiectasia in general and speciality care32
Overview of hereditary breast and ovarian cancer (HBOC) guidelines across Europe32
Cancer predisposition and germline CTNNA1 variants26
Rare variants of primary liver cancer: Fibrolamellar, combined, and sarcomatoid hepatocellular carcinomas23
The genetic architecture of primary biliary cholangitis22
The spectrum of Progressive Familial Intrahepatic Cholestasis diseases: Update on pathophysiology and emerging treatments20
Pathophysiology of premature aging characteristics in Mendelian progeroid disorders19
A large cohort of disorders of sex development and their genetic characteristics: 6 novel mutations in known genes17
Clinical and genetic evaluation of Danish patients with pycnodysostosis17
Polycystic liver disease genes: Practical considerations for genetic testing17
Early-onset parkinsonism in PPP2R5D-related neurodevelopmental disorder17
NGLY1 deficiency: Novel variants and literature review16
European Reference Network for Rare Vascular Diseases (VASCERN): When and how to use intravenous bevacizumab in Hereditary Haemorrhagic Telangiectasia (HHT)?16
Expansion of the CCDC22 associated Ritscher-Schinzel/3C syndrome and review of the literature: Should the minimal diagnostic criteria be revised?16
Why does SARS-CoV-2 hit in different ways? Host genetic factors can influence the acquisition or the course of COVID-1916
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