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Neonatology

Free Subscription Articles published in Hum Mutat Retrieve available abstracts of 10 articles: HTML format

Single Articles

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.
   PubMed     Abstract available
   
   
   
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.
   PubMed     Abstract available
   
   
   
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.
   PubMed     Abstract available
   
   
   January 2025
4. 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.
   PubMed     Abstract available
   
   
   
5. 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.
   PubMed     Abstract available
   
   
   
6. 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.
   PubMed     Abstract available
   
   
   
7. 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.
   PubMed     Abstract available
   
   
   
8. 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.
   PubMed     Abstract available
   
   
   
9. 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.
   PubMed     Abstract available
   
   
   January 2024
10. 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.
    PubMed     Abstract available
    
    

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