Human Mutation

Papers
(The H4-Index of Human Mutation is 23. 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
Variant interpretation using population databases: Lessons from gnomAD265
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation94
Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants92
Benchmarking deep learning splice prediction tools using functional splice assays64
The human ATP‐binding cassette (ABC) transporter superfamily62
seqr : A web‐based analysis and collaboration tool for rare disease genomics39
Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders38
GATA2 deficiency syndrome: A decade of discovery37
Qatar genome: Insights on genomics from the Middle East37
Annotating and prioritizing genomic variants using the Ensembl Variant Effect Predictor—A tutorial37
GRIN database: A unified and manually curated repertoire of GRIN variants35
Whole‐exome sequencing of non‐ BRCA1/BRCA2 mutation carrier cases at high‐risk for hereditary breast/ovarian cancer35
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians32
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing31
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development30
A single NGS‐based assay covering the entire genomic sequence of the DMD gene facilitates diagnostic and newborn screening confirmatory testing29
New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV29
Clinical exome sequencing—Mistakes and caveats28
Incorporation of exome‐based CNV analysis makes trio‐WES a more powerful tool for clinical diagnosis in neurodevelopmental disorders: A retrospective study27
Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients26
EFEMP1 rare variants cause familial juvenile‐onset open‐angle glaucoma26
Utilizing ClinGen gene‐disease validity and dosage sensitivity curations to inform variant classification26
Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy23
De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy23
Clinical, biochemical, and genotype‐phenotype correlations of 118 patients with Niemann‐Pick disease Types A/B23
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