Biallelic TMEM72 Variants in Patients with a Nephronophthisis-Like Phenotype
Laura R. Claus(Utrecht University), Albertien M. van Eerde(University Medical Center Utrecht), Verena Klämbt(Boston Children's Hospital), Roel Broekhuizen(Utrecht University), Walter J. Brummelhuis(University Medical Center Utrecht), Marius Ueffing(STZ eyetrial), Alexandre Karras(Hôpital Européen Georges-Pompidou), Martin Elferink(University Medical Center Utrecht), Karsten Boldt, Siebren Faber(Radboud University Nijmegen), John A. Sayer(Newcastle upon Tyne Hospitals NHS Foundation Trust), Gisela G. Slaats(University of Cologne), Edith Peters(University Medical Center Utrecht), Marijn F. Stokman(Inserm), Maarten B. Rookmaaker(University Medical Center Utrecht), Laure Raymond(Sorbonne Université), Sanne M. C. Savelberg(Utrecht University), Ruxandra Neatu(Newcastle University), Elena Sendino Garví(Utrecht University), Ronald Roepman(Radboud University Nijmegen), Daniel P. Gale(University of Groningen), Cyril Mousseaux(University Medical Center Groningen), Eric Olinger(University of Zurich), Tri Q. Nguyen(Utrecht University), Nine V.A.M. Knoers(University Medical Center Groningen), Omid Sadeghi‐Alavijeh(Genomics England), Rozemarijn Snoek(University Medical Center Utrecht), Laurent Mesnard(Sorbonne Université), Bert van der Zwaag(University Medical Center Utrecht), Karen Duran(University Medical Center Utrecht), Friedhelm Hildebrandt(NIHR Newcastle Biomedical Research Centre), Suzanne W. van der Veen(Utrecht University), Gijs van Haaften, Aurelius J.C. Roskothen-Shevchuk(University Medical Center Utrecht), Federico Tessadori(Utrecht University)
Cited by 0
Related Papers
Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer
|Nature Genetics|2009|788
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4
|Nature Genetics|2006|572
The Parkinson disease causing LRRK2 mutation I2020T is associated with increased kinase activity
|Human Molecular Genetics|2005|477
Genetic loci influencing kidney function and chronic kidney disease
|Nature Genetics|2010|269