Jan Halbritter
Jan Halbritter
Professor of Genetic Kidney Diseases, Center for Rare Kidney Diseases (CeRKiD), Charité
Verified email at - Homepage
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A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome
CE Sadowski, S Lovric, S Ashraf, WL Pabst, HY Gee, S Kohl, ...
Journal of the American society of nephrology 26 (6), 1279-1289, 2015
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy
J Halbritter, JD Porath, KA Diaz, DA Braun, S Kohl, M Chaki, SJ Allen, ...
Human genetics 132, 865-884, 2013
Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans
J Halbritter, AA Bizet, M Schmidts, JD Porath, DA Braun, HY Gee, ...
The American Journal of Human Genetics 93 (5), 915-925, 2013
Zebrafish ciliopathy screen plus human mutational analysis identifies C21orf59 and CCDC65 defects as causing primary ciliary dyskinesia
C Austin-Tse, J Halbritter, MA Zariwala, RM Gilberti, HY Gee, N Hellman, ...
The American Journal of Human Genetics 93 (4), 672-686, 2013
Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis
J Halbritter, M Baum, AM Hynes, SJ Rice, DT Thwaites, ZS Gucev, ...
Journal of the American Society of Nephrology 26 (3), 543-551, 2015
Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with a Unique Clinical and Ciliary Phenotype
MR Knowles, LE Ostrowski, MW Leigh, PR Sears, SD Davis, WE Wolf, ...
American journal of respiratory and critical care medicine 189 (6), 707-717, 2014
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3
S Hoff, J Halbritter, D Epting, V Frank, TMT Nguyen, J Van Reeuwijk, ...
Nature genetics 45 (8), 951-956, 2013
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6
MA Zariwala, HY Gee, M Kurkowiak, DA Al-Mutairi, MW Leigh, TW Hurd, ...
The American Journal of Human Genetics 93 (2), 336-345, 2013
Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis
A Daga, AJ Majmundar, DA Braun, HY Gee, JA Lawson, S Shril, ...
Kidney international 93 (1), 204-213, 2018
Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms
MR Knowles, LE Ostrowski, NT Loges, T Hurd, MW Leigh, L Huang, ...
The American Journal of Human Genetics 93 (4), 711-720, 2013
High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation …
J Halbritter, K Diaz, M Chaki, JD Porath, B Tarrier, C Fu, JL Innis, SJ Allen, ...
Journal of medical genetics 49 (12), 756-767, 2012
Prevalence of monogenic causes in pediatric patients with nephrolithiasis or nephrocalcinosis
DA Braun, JA Lawson, HY Gee, J Halbritter, S Shril, W Tan, D Stein, ...
Clinical Journal of the American Society of Nephrology 11 (4), 664-672, 2016
DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling
M Schueler, DA Braun, G Chandrasekar, HY Gee, TD Klasson, J Halbritter, ...
The American Journal of Human Genetics 96 (1), 81-92, 2015
Mutations of CEP83 cause infantile nephronophthisis and intellectual disability
M Failler, HY Gee, P Krug, K Joo, J Halbritter, L Belkacem, E Filhol, ...
The American Journal of Human Genetics 94 (6), 905-914, 2014
FAT1 mutations cause a glomerulotubular nephropathy
HY Gee, CE Sadowski, PK Aggarwal, JD Porath, TA Yakulov, M Schueler, ...
Nature communications 7 (1), 10822, 2016
TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone
EC Roberson, WE Dowdle, A Ozanturk, FR Garcia-Gonzalo, C Li, ...
Journal of Cell Biology 209 (1), 129-142, 2015
Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization
AA Bizet, A Becker-Heck, R Ryan, K Weber, E Filhol, P Krug, J Halbritter, ...
Nature communications 6 (1), 8666, 2015
Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity
DA Braun, M Schueler, J Halbritter, HY Gee, JD Porath, JA Lawson, ...
Kidney international 89 (2), 468-475, 2016
Mutations in CSPP1 lead to classical Joubert syndrome
N Akizu, JL Silhavy, RO Rosti, E Scott, AG Fenstermaker, J Schroth, ...
The American Journal of Human Genetics 94 (1), 80-86, 2014
Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome
S Lovric, H Fang, V Vega-Warner, CE Sadowski, HY Gee, J Halbritter, ...
Clinical Journal of the American Society of Nephrology 9 (6), 1109-1116, 2014
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