Jonathan D. Porath

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

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 · 204 citations · Full text

Medicine, Neuroscience, Pathology +7

Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia

Christina Austin‐Tse, Jan Halbritter, Maimoona A. Zariwala et al. · The American Journal of Human Genetics · 2013 · 201 citations · Full text

Life Sciences, Molecular Genetics, Neuroscience +6