Jan Halbritter

A Single-Gene Cause in 29.5% of Cases of Steroid-Resistant Nephrotic Syndrome

Carolin E. Sadowski, Svjetlana Lovric, Shazia Ashraf et al. · Journal of the American Society of Nephrology · 2014 · 637 citations · Full text

Genetics, Renal Pathology, Genetic Epidemiology +19

Fourteen Monogenic Genes Account for 15% of Nephrolithiasis/Nephrocalcinosis

Jan Halbritter, Michelle A. Baum, Ann Marie Hynes et al. · Journal of the American Society of Nephrology · 2014 · 228 citations · Full text

Monogenic Causes, Genetics, Renal Pathology +16

Mutations in <i>RSPH1</i> Cause Primary Ciliary Dyskinesia with a Unique Clinical and Ciliary Phenotype

Michael R. Knowles, Lawrence E. Ostrowski, Margaret W. Leigh et al. · American Journal of Respiratory and Critical Care Medicine · 2014 · 226 citations · Full text

Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans

Jan Halbritter, Albane A. Bizet, Miriam Schmidts et al. · The American Journal of Human Genetics · 2013 · 225 citations · Full text

ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6

Maimoona A. Zariwala, Heon Yung Gee, Małgorzata Kurkowiak et al. · The American Journal of Human Genetics · 2013 · 201 citations · Full text

Pathology, Neuropathology, Medicine +4