A Novel Approach to Interrogating Whole Genome Sequencing Data to Optimise Clinical Utility
Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.Pre‐classification variant selection and reanalysis of undiagnosed cases are critical to optimise the quality improvement in the clinical delivery of whole genome sequencing in rare disease. Variant selection via virtual panels can expedite interpretation but may miss clinically relevant findings, leaving cases undiagnosed for rare disease.
Sarah Sonner +9 more
wiley +1 more source
Oncofetal Biology: From Fundamental Mechanisms to Emerging Therapeutic Opportunities
MedComm – Oncology, Volume 5, Issue 2, June 2026.Oncofetal biology provides a transformative framework for understanding cancer initiation, progression, and therapeutic intervention. This review synthesizes the core molecular mechanisms connecting embryonic development and tumorigenesis from a multidisciplinary standpoint and outlines future research trajectories and clinical applications, and we aim
Yang Liu +3 more
wiley +1 more source
Dermatoscopic Features of Hyperpigmented Dermatoses. [PDF]
Clin Cosmet Investig DermatolHua Y, Xie B, Shen Y, Song X.
europepmc +1 more source
MedComm – Oncology, Volume 5, Issue 2, June 2026.Endometrial cancer (EC), a major gynecologic malignancy and a representative “cold tumor”, exhibits a tumor immune microenvironment (TIME) influenced by a broad range of cellular and molecular elements, immunosuppressive signals, and pathways of immune evasion.
Jingxuan Ye +4 more
wiley +1 more source
Nerve Ultrasound Detects Peripheral Nerve Enlargement in Cerebrotendinous Xanthomatosis
Muscle &Nerve, Volume 73, Issue 6, Page 1082-1088, June 2026.ABSTRACT Introduction/Aims Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by variants in the CYP27A1 gene, resulting in cholestanol accumulation in various tissues, including peripheral nerves. Polyneuropathy is common but often under‐recognized in CTX.
Antonio Edvan Camelo‐Filho +8 more
wiley +1 more source
Transcatheter Embolotherapy of Maternal Pulmonary Arteriovenous Malformation During Twin Pregnancy With Hereditary Hemorrhagic Telangiectasia: A Case Report. [PDF]
CureusTakashima A +4 more
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Human Absorption, Metabolism, and Excretion (hAME) Mass Balance Studies in Patients With Cancer
Clinical and Translational Science, Volume 19, Issue 6, June 2026.ABSTRACT Radiolabeled mass balance human studies are a critical component of clinical pharmacology programs supporting the development of new investigational drugs. These studies provide information about absorption, metabolism, and excretion (AME) of the parent drug and metabolite(s) in the human body and are normally conducted in healthy volunteers ...
Begoña de las Heras +9 more
wiley +1 more source
Unmasking a Rare Genetic Puzzle: Hereditary Hemorrhagic Telangiectasia in a Black Kenyan Woman: A Case Report. [PDF]
Case Rep Gastrointest MedOtom L +3 more
europepmc +1 more source
European Journal of Haematology, Volume 116, Issue 6, Page 771-784, June 2026.ABSTRACT Primary refractory Diffuse Large B‐Cell Lymphoma is associated with poor outcomes and limited responsiveness to conventional salvage therapies. Although CAR T‐cell therapy represents the standard of care in this setting, a substantial proportion of patients cannot receive it despite meeting disease‐related criteria. In this review, “unsuitable”
Santino Caserta +12 more
wiley +1 more source
Correction: Ficany et al. Epistaxis Prevention, Treatment, and Future Perspectives for Hereditary Hemorrhagic Telangiectasia. <i>J. Clin. Med.</i> 2025, <i>14</i>, 7724. [PDF]
J Clin MedFicany A +4 more
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