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 · 655 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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 · 243 citations · Full text

Medicine, Genetics, Molecular Genetics +11

Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy

Jan Halbritter, Jonathan D. Porath, Katrina A. Diaz et al. · Human Genetics · 2013 · 236 citations

Medicine, Genetics, Nephrology +10

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 · 231 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

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 · 229 citations

Life Sciences, Genetics, Molecular Genetics +14