Jonathan D. Porath

FAT1 mutations cause a glomerulotubular nephropathy

Mutation of Growth Arrest Specific 8 Reveals a Role in Motile Cilia Function and Human Disease

SDCCAG8 Interacts with RAB Effector Proteins RABEP2 and ERC1 and Is Required for Hedgehog Signaling

A FANCD2/FANCI-Associated Nuclease 1-Knockout Model Develops Karyomegalic Interstitial Nephritis

TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone

Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity

Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate<i>ZIC3</i>and<i>FOXF1</i>in Human VATER/VACTERL Association

<i>IFT81</i>, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype

Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies

Fourteen Monogenic Genes Account for 15% of Nephrolithiasis/Nephrocalcinosis

DCDC2 Mutations Cause a Renal-Hepatic Ciliopathy by Disrupting Wnt Signaling

Mutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability

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

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

ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6

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

Mutations in SPAG1 Cause Primary Ciliary Dyskinesia Associated with Defective Outer and Inner Dynein Arms