European Journal of Medical Genetics

Papers
(The H4-Index of European Journal of Medical Genetics is 17. 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 2020-03-01 to 2024-03-01.)
ArticleCitations
Familial hypercholesterolemia: A complex genetic disease with variable phenotypes48
Impact of COVID-19 pandemic on patients with rare disease in Hong Kong41
A longitudinal perspective on the pharmacotherapy of 24 adult patients with Phelan McDermid syndrome29
The European Rare Disease Network for HHT Frameworks for management of hereditary haemorrhagic telangiectasia in general and speciality care28
Biallelic variants in four genes underlying recessive osteogenesis imperfecta25
A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy24
Clinical and molecular characterization of pediatric mitochondrial disorders in south of China23
von Hippel-Lindau disease: Updated guideline for diagnosis and surveillance23
Natural human chimeras: A review22
Clinical error rates of next generation sequencing and array comparative genomic hybridization with single thawed euploid embryo transfer22
Overview of hereditary breast and ovarian cancer (HBOC) guidelines across Europe21
A retrospective analysis the clinic data and follow-up of non-invasive prenatal test in detection of fetal chromosomal aneuploidy in more than 40,000 cases in a single prenatal diagnosis center20
Cancer predisposition and germline CTNNA1 variants20
Rare variants of primary liver cancer: Fibrolamellar, combined, and sarcomatoid hepatocellular carcinomas19
Revised Danish guidelines for the cancer surveillance of patients with Cowden Syndrome18
Genetics of developmental dysplasia of the hip18
The genetic architecture of primary biliary cholangitis18
The spectrum of Progressive Familial Intrahepatic Cholestasis diseases: Update on pathophysiology and emerging treatments17
0.089071989059448