<span class="vcard">John Joseph</span>
John Joseph

A novel homozygous c.301T > C, p.Y101H variant in the GNA11 gene is implicated in familial hypocalciuric hypercalcemia type 2 in a proband with the heterozygous variant present in mother and father – A case report

Scand J Clin Lab Invest. 2025 Nov 15:1-5. doi: 10.1080/00365513.2025.2588772. Online ahead of print. ABSTRACT Familial hypocalciuric hypercalcemia (FHH) is a genetically heterogeneous autosomal dominant …

Combined somatic mutation and transcriptome analysis reveals region-specific differences in clonal architecture in human cortex

Cell Rep. 2025 Nov 13;44(11):116458. doi: 10.1016/j.celrep.2025.116458. Online ahead of print. ABSTRACT The human cerebral cortex is specialized into regions, but little is known about …

Efficacy of probiotics and synbiotics combined with phototherapy vs phototherapy alone in neonatal hyperbilirubinemia: a systematic review and meta-analysis of randomized controlled trials

Eur J Pediatr. 2025 Nov 15;184(12):765. doi: 10.1007/s00431-025-06627-2. ABSTRACT The current gold standard for neonatal hyperbilirubinemia is phototherapy. However, phototherapy for a longer duration has …

Per- and Polyfluoroalkyl Substances Induce Cardiotoxicity and Alter Protein Profiles of Extracellular Matrix, Metabolism, and Mitochondrial Function in Human Cardiomyocytes

Chem Res Toxicol. 2025 Nov 15. doi: 10.1021/acs.chemrestox.5c00267. Online ahead of print. ABSTRACT Per- and polyfluoroalkyl substances (PFAS), common environmental contaminants, can cause cardiotoxic effects …

Overlapping Esophageal Disorders: A Population-Based Comparative Study of Eosinophilic Esophagitis Patients Also Diagnosed With Achalasia

Neurogastroenterol Motil. 2025 Nov 15:e70208. doi: 10.1111/nmo.70208. Online ahead of print. ABSTRACT BACKGROUND: Eosinophilic Esophagitis (EoE) and achalasia are distinct esophageal disorders with overlapping symptoms, …