Human Mutation

Papers
(The H4-Index of Human Mutation is 18. 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 2022-06-01 to 2026-06-01.)
ArticleCitations
A Comprehensive Review of Gene Mutations in Inherited Blood Disorders Among the Saudi Population150
Adaptation of ACMG/AMP Guidelines for Clinical Classification of BMPR2 Variants in Pulmonary Arterial Hypertension Resolves Variants of Unclear Pathogenicity in ClinVar83
Molecular Landscape and Predictive Significance of Programmed Cell Death‐Related Genes in Sepsis70
Biallelic loss‐of‐function mutations in SEPTIN4 ( C17ORF47 ), encoding a conserved annulus protein, cause thin midpiece spermatozoa and ma63
Multiomics Analysis of Nucleotide Metabolism Highlights the Important Role of Adenylate Kinase 4 in Pancreatic Cancer36
A Propionate Metabolism‐Based Gene Signature Reveals Immunogenomic and Transcriptomic Determinants of Prognosis in Glioblastoma Through Multiomics Integration33
Heterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, ATP9A, Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual Disability32
A Novel MAP3K7 Variant Causing Loss of Function Identified in a Family With Cardiospondylocarpofacial Syndrome: Functional Validation and Molecular Insig30
Genome‐Wide Cross‐Trait Analysis Dissects the Shared Genetic Architecture Between Type 2 Diabetes Mellitus and Metabolic Dysfunction–Associated Steatotic Liver Disease29
Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency29
Human Mutation special issue on innovations in genomic diagnostics27
From Variant to Biomarker in NSCLC Immunotherapy Resistance: Multiomics Evidence Chains and Accountable AI Integration24
TRMT10A ‐Related Neurodevelopmental Disorder Without Metabolic Findings24
A Mitoxyperilysis‐Related Single‐Cell and Machine‐Learning Framework Defines an Immune‐Cold Melanoma Phenotype and a Robust Prognostic Signature24
Evaluation of a whole‐exome sequencing pipeline and benchmarking of causal germline variant prioritizers23
Study on the Mechanism of Hearing Loss Induced by USH2A Gene Knockout23
HSPB6: A Potential Prognostic Biomarker, Inhibiting the Epithelial–Mesenchymal Transition (EMT) Process Through the PI3K/Akt Signaling Pathway Based on the Machine Learning and Experimental Validation21
A Single‐Cell Multiomics Pipeline Maps YBX1 as a Functional Biomarker for Immune Evasion and Therapeutic Resistance in Prostate Adenocarcinoma20
A Tertiary Lymphoid Structure–Derived Prognostic Signature Integrates Immune Microenvironment and Mutational Landscapes in Clear Cell Renal Cell Carcinoma18
Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting18
Integrative Systems Biology and Experimental Validation Unveil GALNT14 as a Novel Diagnostic Biomarker and Therapeutic Target for Sepsis18
Unraveling Signaling Pathways in Immune Microenvironment Crosstalk to Overcome Immunotherapy Resistance in Colorectal Cancer18
In silico Analysis of CHD4 Mutations Reveals Domain‐Specific Impacts on Cardiovascular Disorders Among Patients With Rare Dise18
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