January 2026
1. HAO L, Huang N, Tao Y, Li H, et al
   ALPL Mutations With Dominant-Negative Effect in Infantile Hypophosphatasia Monozygotic Twins.
   Hum Mutat. 2026;2026:9913394.
   

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2. MEHTA NH, Dennis E, Allington G, Mekbib KY, et al
   De Novo TRIO Missense Variants Disrupt Ras-GEF Domains and Cause Congenital Ventriculomegaly and Hydrocephalus.
   Hum Mutat. 2026;2026:8870037.
   

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3. QI JL, Chen HX, Hou HT, Yang Q, et al
   Pathophysiological Significance of Variants of the HAND1 Gene Promoter in Congenital Atrial Septal Defects: A Study in 632 Chinese Subjects.
   Hum Mutat. 2026;2026:8840490.
   

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4. ZHUANG J, Huang N, Chen YE, Lou H, et al
   Identification of Two Novel Variants in CRYGD and OCRL Genes in the Chinese Population With Hereditary Congenital Cataracts Using Whole Exome Sequencing.
   Hum Mutat. 2026;2026:3884362.
   

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5. LING J, Pindwarawala M, Gregory-Evans CY, Kirby M, et al
   Expanding the Genotypic Landscape of Congenital Stationary Night Blindness in an Ethnically Diverse Canadian Population.
   Hum Mutat. 2026;2026:6564149.
   

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   January 2025
6. XU Y, Gao J, An Y, Zou C, et al
   Clinic Examination and Gene Diagnosis for a Birt-Hogg-Dube Syndrome Family With a Novel flcn Frameshift Mutation Causing Nonsense-Mediated mRNA Degradation.
   Hum Mutat. 2025;2025:7194418.
   

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7. XIE T, Huang Z, Chen X, Jin Z, et al
   Key Genes Associated With Functional Specialization of Neonatal Peripheral Monocytes.
   Hum Mutat. 2025;2025:3009253.
   

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8. ZHOU W, Liu F, Li S, Wu D, et al
   Novel Algorithm for Monogenic Noninvasive Prenatal Testing With Highly Similar Parental Pathogenic Haplotypes: A Representative Case of Congenital Adrenal Hyperplasia Pedigree.
   Hum Mutat. 2025;2025:9990873.
   

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9. WARD A, Mauleon R, Ooi CY, Rosic N, et al
   Identification of Novel Modifier Genes Associated With Pain in Cystic Fibrosis: An In Silico Gene Discovery.
   Hum Mutat. 2025;2025:7570437.
   

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10. ALTIN N, Mamchaoui K, Ohana J, Bigot A, et al
    The Emerging TNNT3 Spectrum: From Distal Arthrogryposis to Congenital Myopathy.
    Hum Mutat. 2025;2025:1785045.
    

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11. LI X, Gan Y, Tan L, Lin Y, et al
    Metabolic and Immune Adaptations in Preterm Neonates at Early Postnatal Period: Integrated Analysis of Key Metabolites and Pathways.
    Hum Mutat. 2025;2025:9978047.
    

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    January 2024
12. WARD A, Mauleon R, Ooi CY, Rosic N, et al
    Impact of Gene Modifiers on Cystic Fibrosis Phenotypic Profiles: A Systematic Review.
    Hum Mutat. 2024;2024:6165547.
    

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