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Human Mutation|April 14, 2025
Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of PGAP2 Variants in Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3)Seda Susgun, Afif Ben-Mahmoud, Franz Rüschendorf, et al.
Human Mutation|April 14, 2025
Characterisation of a LINE-1 Insertion in the RP1 Gene by Targeted Adaptive Nanopore Sequencing in a Family with Retinitis PigmentosaMichael P Backlund, Pauliina Repo, Harri Kangas, et al.
Human Mutation|April 14, 2025
Exonic Deletions and Deep Intronic Variants of the SLC26A4 Gene Contribute to the Genetic Diagnosis of Unsolved Patients With Enlarged Vestibular AqueductYongan Tian, Mengli Liu, Yu Lu, et al.
Human Mutation|April 14, 2025
Practical Recommendations for the Selection of Patients for Individualized Splice-Switching ASO-Based TreatmentsBianca Zardetto, Marlen C Lauffer, Willeke van Roon-Mom, et al.
Human Mutation|April 14, 2025
Genome Sequencing of Rare Disease Patients Through the Korean Regional Rare Disease Diagnostic Support ProgramRin Khang, Hane Lee, Jihye Kim, et al.
Human Mutation|April 14, 2025
RNA Panel Sequencing Is an Effective Tool to Help Classify Splice Variants for Clinical Oncogenetic DiagnosisMaud Privat, Flora Ponelle-Chachuat, Sandrine Viala, et al.
Human Mutation|April 14, 2025
Heterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, ATP9A, Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual DisabilityAmélie Cordovado, Yvan Hérenger, Coline Cormier, et al.
Human Mutation|April 14, 2025
Long-Read Sequencing Identified a Large Novel δ/β-Globin Gene Deletion in a Chinese FamilyJianlong Zhuang, Yu Zheng, Yuying Jiang, et al.
Human Mutation|April 14, 2025
Combination of Synonymous and Missense Mutations in JAK3 Gene Contributes to Severe Combined Immunodeficiency in One ChildXingcui Wang, Rujin Tian, Haozheng Zhang, et al.
Human Mutation|April 14, 2025
The Common PKD1 p.(Ile3167Phe) Variant Is Hypomorphic and Associated with Very Early Onset, Biallelic Polycystic Kidney DiseaseMiranda Durkie, Christopher M Watson, Peter Winship, et al.
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