Jan Halbritter

Author PubWeight™ 13.51^‹?›

Top papers

Rank	Title	Journal	Year	PubWeight™‹?›
1	Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia.	Am J Hum Genet	2013	1.90
2	Mutation of the Mg2+ transporter SLC41A1 results in a nephronophthisis-like phenotype.	J Am Soc Nephrol	2013	1.52
3	ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3.	Nat Genet	2013	1.32
4	ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.	Am J Hum Genet	2013	1.24
5	Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms.	Am J Hum Genet	2013	1.19
6	Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype.	Am J Respir Crit Care Med	2014	1.14
7	Genetic and evolutionary analyses of the human bone morphogenetic protein receptor 2 (BMPR2) in the pathophysiology of obesity.	PLoS One	2011	0.90
8	Role of genetic variation in the human sodium-glucose cotransporter 2 gene (SGLT2) in glucose homeostasis.	Pharmacogenomics	2011	0.77
9	THOC5: a novel gene involved in HDL-cholesterol metabolism.	J Lipid Res	2013	0.77
10	Phenotype of a patient with a de novo mutation in the hepatocyte nuclear factor 1beta/maturity-onset diabetes of the young type 5 gene.	Metabolism	2008	0.76
11	Effects of SLC10A2 variant rs9514089 on gallstone risk and serum cholesterol levels- meta-analysis of three independent cohorts.	BMC Med Genet	2011	0.76
12	Successful simultaneous pancreas kidney transplantation in maturity-onset diabetes of the young type 5.	Transplantation	2011	0.75
13	Isolated renal relapse of sarcoidosis under low-dose glucocorticoid therapy.	J Gen Intern Med	2008	0.75
14	Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.	Am J Hum Genet	2017	0.75