Clinical Genetics

Papers
(The H4-Index of Clinical Genetics is 20. 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
De novo variants in neurodevelopmental disorders—experiences from a tertiary care center73
Description of neurodevelopmental phenotypes associated with 10 genetic neurodevelopmental disorders: A scoping review47
A review on age‐related cancer risks in PTEN hamartoma tumor syndrome45
Molecular intrinsic versus clinical subtyping in breast cancer: A comprehensive review45
Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease37
Novel loss‐of‐function variants in DNAH17 cause multiple morphological abnormalities of the sperm flagella in humans and mice35
The sodium/proton exchanger SLC9C1 (sNHE) is essential for human sperm motility and fertility30
The Thai reference exome (T‐REx) variant database28
Out‐of‐pocket and private pay in clinical genetic testing: A scoping review27
ANKRD11 variants: KBG syndrome and beyond26
Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients25
Clinical and molecular delineation of PUS3‐associated neurodevelopmental disorders24
A standard of care for individuals with PIK3CA‐related disorders: An international expert consensus statement24
Novel pathogenic variants in NLRP7, NLRP5, and PADI6 in patients with recurrent hydatidiform moles and reproductive failure24
Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole‐exome sequencing23
Tooth agenesis: What do we know and is there a connection to cancer?23
Genetic diagnosis of infantile‐onset epilepsy in the clinic: Application of whole‐exome sequencing following epilepsy gene panel testing22
Vestibular phenotype‐genotype correlation in a cohort of 90 patients with Usher syndrome22
FARS1‐related disorders caused by bi‐allelic mutations in cytosolic phenylalanyl‐tRNA synthetase genes: Look beyond the lungs!22
The evolution of the nosology of osteogenesis imperfecta20
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet‐Biedl syndrome20
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