Author

J. Sayer

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Review Open access Sep 2026

Renal and systemic complications in autosomal dominant hypocalcemia type 1: a case series from North East England

Abstract Context Autosomal dominant hypocalcemia type 1 (ADH1) is a rare genetic disorder caused by activating CASR variants, characterized by hypocalcemia, low/normal parathyroid hormone, and hypercalciuria. While managed with conservative calcium targets to prevent renal damage, the long-term systemic burden remains...

Deepika Manoharan, E. Wong, Holly R. Mabillard et al. · Journal of the Endocrine Soc... · 0 citations

Open access Oct 2026

Expanding the Phenotypic Spectrum of TXNDC15-Related Ciliopathies to Include Joubert Syndrome.

Biallelic loss-of-function variants in TXNDC15 are a known cause of the perinatally lethal ciliopathy Meckel syndrome (MKS). TXNDC15 encodes an endoplasmic reticulum (ER)-resident thioredoxin-domain protein required for ciliary transition zone integrity. Many ciliopathy genes show a spectrum of severity, producing a cl...

Z. Sentell, Rob Geraghty, Juliana E. Arcila-Galvis et al. · American Journal of Medical... · 0 citations

Open access Sep 2026

Digenic disease causing variants in a patient with severe nephrocalcinosis

Nephrocalcinosis and cystinuria are two distinct kidney disorders. Nephrocalcinosis is the abnormal, generalised deposition of calcium salts, primarily calcium phosphate or calcium oxalate, within the kidney's parenchyma, and has multiple causes including metabolic disorders, monogenic kidney diseases and medications....

Caitlin Pollock, R. Geraghty, Holly R. Mabillard et al. · Journal of Rare Diseases · 0 citations

Review Open access Oct 2026

GLP-1 receptor agonists—a potential therapy for chronic kidney disease?

Abstract Chronic kidney disease (CKD) represents a significant health burden worldwide, characterized by a gradual decline in kidney function and increased risk of cardiovascular events. Current therapeutic strategies like inhibition of the renin-angiotensin-aldosterone system or sodium-glucose cotransporter 2 inhibito...

Jan Boeckhaus, J. Sayer, Holly R. Mabillard · Clinical science · 0 citations

Open access Jul 2026

Resolving the classification rates and molecular architecture of early-onset chronic kidney disease with NephVar

The NephVar renal registry is established, which aims to be a molecular dictionary for nephrologists to classify variants and resolve their unique molecular effects, and it is demonstrated that variant effect prediction is effective for downgrading variants of unknown significance and classifying AR genes, but challeng...

Joshua Pillai, J. Sayer · medRxiv · 0 citations