Clinical Genetics

Papers
(The H4-Index of Clinical Genetics is 19. 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 2021-04-01 to 2025-04-01.)
ArticleCitations
52
The first case of a point pathogenic variant in the RREB1 gene in Noonan‐like Rasopathy34
Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene33
Octapeptide repeat alteration mutations of the prion protein gene in clinically diagnosed Alzheimer's disease and frontotemporal dementia30
Revealing Molecular Diagnosis With Whole Exome Sequencing in Patients With Inherited Retinal Disorders28
Issue Information26
Clinical and molecular characterization of patients affected by Beckwith‐Wiedemann spectrum conceived through assisted reproduction techniques26
Case Series of Eight Congenital Tufting Enteropathy Patients and Literature Review26
Genetic profile of Brazilian patients with LAMA2‐related dystrophies26
Issue Information25
Lymphedema is associated with CELSR1 in Phelan–McDermid syndrome24
Hypomorphic alleles pose challenges in rare disease genomic variant interpretation22
21
Novel homozygous variant in ARL2BP associated with retinitis pigmentosa, situs inversus, and male infertility in a Chinese patient21
Issue Information21
Skipping of Exon 20 in EP300: A Novel Variant Linked to Rubinstein–Taybi Syndrome With Atypical and Severe Clinical Manifestations19
19
A Novel De Novo Missense Variant in Netrin‐1 (NTN1) Associated With Chorioretinal Coloboma, Sensorineural Hearing Loss and Polydactyly19
Identification of Novel SCMC Gene Variants Associated With Early Embryonic Arrest19
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