Human Mutation

Papers
(The H4-Index of Human Mutation is 24. 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 2020-03-01 to 2024-03-01.)
ArticleCitations
Variant interpretation using population databases: Lessons from gnomAD169
Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines99
A mutation update for the FLNC gene in myopathies and cardiomyopathies85
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation82
Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants70
Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9‐year period54
Benchmarking deep learning splice prediction tools using functional splice assays53
The human ATP‐binding cassette (ABC) transporter superfamily42
AutoPVS1: An automatic classification tool for PVS1 interpretation of null variants33
Identification and characterization of novel rapidly mutating Y‐chromosomal short tandem repeat markers32
Large‐scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasia30
Functional consequences of SLC1A3 mutations associated with episodic ataxia 630
Xdrop: Targeted sequencing of long DNA molecules from low input samples using droplet sorting30
Candidate genes for hereditary colorectal cancer: Mutational screening and systematic review29
Whole‐exome sequencing of non‐ BRCA1/BRCA2 mutation carrier cases at high‐risk for hereditary breast/ovarian cancer29
Large‐scale comparative evaluation of user‐friendly tools for predicting variant‐induced alterations of splicing regulatory elements28
GRIN database: A unified and manually curated repertoire of GRIN variants28
The X‐linked filaminopathies: Synergistic insights from clinical and molecular analysis27
GATA2 deficiency syndrome: A decade of discovery27
The EAHAD blood coagulation factor VII variant database27
The genetic profile of dysferlinopathy in a cohort of 209 cases: Genotype–phenotype relationship and a hotspot on the inner DysF domain26
Annotating and prioritizing genomic variants using the Ensembl Variant Effect Predictor—A tutorial25
Qatar genome: Insights on genomics from the Middle East25
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians25
Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: Strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars24
Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders24
A single NGS‐based assay covering the entire genomic sequence of the DMD gene facilitates diagnostic and newborn screening confirmatory testing24
seqr : A web‐based analysis and collaboration tool for rare disease genomics24
Incorporation of exome‐based CNV analysis makes trio‐WES a more powerful tool for clinical diagnosis in neurodevelopmental disorders: A retrospective study24
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