Title	Publication Date	Language	Citations
Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile	2024/02/21	English
Novel variant in LRP6 associated with unusual and severe clinical presentation: Case report	2024/02/22	English
Severe manifestation of Rauch‐Azzarello syndrome associated with biallelic deletion of CTNND2	2024/04/11	English
Genotypic and phenotypic features of 39 Chinese patients with glycogen storage diseases type I, VI, and IX	2024/04/05	English
Issue Information	2024/04/03	English
Featured Cover	2024/04/03	English
Expanding the understanding of telomere biology disorder with reports from two families harboring variants in ZCCHC8 and TERC	2024/04/12	English
Shifting the landscape: Dominant C‐terminal rare missense FOXL2 variants in non‐syndromic primary ovarian failure etiology	2024/04/01	English
Kinesin family member 12‐related hepatopathy: A generally indolent disorder with elevated gamma‐glutamyl‐transferase activity	2024/03/29	English
Beyond the phenotype: Exploring inherited retinal diseases with targeted next‐generation sequencing in a Turkish cohort	2024/04/04	English
Simplified detection of genetic background admixture using artificial intelligence	2024/04/01	English
Possible incomplete penetrance of Xq28 int22h‐1/int22h‐2 duplication	2024/04/01	English
Issue Information	2023/12/13	English
Diagnostic exome identifies a novel PRKG2 mutation in a proband with skeletal dysplasia	2023/12/10	English
Therapeutic strategies for aberrant splicing in cancer and genetic disorders	2024/01/02	English
CCDC88C variants are associated with focal epilepsy and genotype–phenotype correlation	2024/01/03	English
CATSHL syndrome, a new family and phenotypic expansion	2023/11/22	English
Exome sequencing identifies homozygous variants in MBOAT7 associated with neurodevelopmental disorder	2023/12/13	English
Parental request for familial carrier testing in early childhood: The genetic counseling perspective	2023/11/23	English
Inheritance of c.628‐6G>A GNB5 hypomorphic allele uncovers another challenge in the pathogenic prediction of genomic variants	2023/11/22	English
A mother and her daughter carrying a pathogenic expansion of the HTT gene with a phenotype encompassing motor neuron disease and Huntington's disease	2023/12/13	English
LRRC23 deficiency causes male infertility with idiopathic asthenozoospermia by disrupting the assembly of radial spokes	2023/10/07	English
RIPOR2: A new gene of non‐syndromic cochleovestibular dysfunction, discrepancy between human pathology and animal models	2023/10/21	English
The third case of Marbach‐Rustad progeroid syndrome caused by a de novo LEMD2 variant	2023/10/23	English
Issue Information	2023/11/07	English
Digenic inheritance accounts for phenotypic variability in amelogenesis imperfecta	2023/11/08	English
Novel copy number variations and phenotypes of infantile epileptic spasms syndrome	2024/03/28	English
Clinical exome sequencing uncovers genetic disorders in neonates with suspected hypoxic–ischemic encephalopathy: A retrospective analysis	2024/03/28	English
De novo start‐loss variant in HIRA in patient with DiGeorge‐like syndrome	2024/03/21	English
BRCA1‐associated protein 1: Tumor predisposition syndrome and Kury‐Isidor syndrome, from genotype–phenotype correlation to clinical management	2024/03/20	English