H. Uhlig

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases

A. Pagnamenta, N. Popitsch, G. Lunter, 2023, Genome Medicine.

A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis

S. Holland, D. Schmidt-Arras, S. Twigg, 2017, The Journal of experimental medicine.

The impact of inversions across 33,924 families with rare disease from a national genome sequencing project

A. Pagnamenta, C. Shaw-Smith, N. Canham, 2024, American journal of human genetics.

Exploring the genetic architecture of inflammatory bowel disease 1 by whole genome sequencing identifies association at ADCY7 2

M. Tremelling, N. Prescott, L. Jostins, 2016 .

Exploring the genetic architecture of inflammatory bowel disease

Loukas Moutsianas, Alison Simmons, Joshua Randall, 2016 .

Exploring the genetic architecture of inflammatory bowel disease 1 by whole genome sequencing identifies association at ADCY7 2

M. Tremelling, N. Prescott, L. Jostins, 2016 .

The Human GP130 Cytokine Receptor and Its Expression—an Atlas and Functional Taxonomy of Genetic Variants

Yin-Huai Chen, H. Uhlig, Sarah van Zon, 2023, Journal of clinical immunology.