Molecular Genetics & Genomic Medicine

Papers
(The H4-Index of Molecular Genetics & Genomic Medicine is 13. 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 2021-05-01 to 2025-05-01.)
ArticleCitations
Cover91
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Exome sequencing and RNA analysis identify two novel CPLANE1 variants causing Joubert syndrome30
Clinical findings from the landmark MEF2C‐related disorders natural history study30
Sequential application of copy number variation sequencing and quantitative fluorescence polymerase chain reaction in genetic analysis of miscarriage and stillbirth16
Homozygous TREM2 c.549del; p.(Leu184Serfs*5) variant causing Nasu‐Hakola disease in three siblings in a consanguineous Iraqi family: Case report and review of literature16
Congenital adrenal hyperplasia due to two rare CYP21A2 variant alleles, including a novel attenuated CYP21A1P/CYP21A2 chimera15
Issue Information14
Diagnosis and treatment of MN1 C‐terminal truncation syndrome14
Ten‐year follow‐up of Nicolaides–Baraitser syndrome with a de novo mutation and analysis of 58 gene loci of SMARCA2‐associated NCBRS14
Two novel presentations of KCNMA1‐related pathology––Expanding the clinical phenotype of a rare channelopathy14
Autism spectrum disorder profiles in RASopathies: A systematic review14
COPA syndrome caused by a novel p.Arg227Cys COPA gene variant14
Three de novo variants in KMT2A (MLL) identified by whole exome sequencing in patients with Wiedemann–Steiner syndrome13
Development of a Tagmentation‐Based Next‐Generation Sequencing Clinical Assay as an Alternative to Capillary Electrophoresis‐Based Sequencing13
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