PubRank

Detlef Bockenhauer

Author PubWeight™ 58.35‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy. N Engl J Med 2011 6.34
2 Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities. Nature 2012 4.26
3 Steroid-resistant nephrotic syndrome: impact of genetic testing. Ann Saudi Med 2014 2.02
4 Phospholipase A2 receptor (PLA2R1) sequence variants in idiopathic membranous nephropathy. J Am Soc Nephrol 2013 1.94
5 Bartter syndromes and other salt-losing tubulopathies. Nephron Physiol 2006 1.78
6 Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. J Med Genet 2010 1.76
7 The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3. Nephrol Dial Transplant 2012 1.71
8 Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum. Hum Mutat 2010 1.67
9 KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function. Proc Natl Acad Sci U S A 2010 1.64
10 Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome. Dev Med Child Neurol 2013 1.61
11 Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome. N Engl J Med 2014 1.53
12 Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder. Nat Genet 2004 1.45
13 A fatal case of cerebral oedema with hyponatraemia and massive polyuria after renal transplantation. Pediatr Nephrol 2009 1.45
14 Integrin α3 mutations with kidney, lung, and skin disease. N Engl J Med 2012 1.33
15 ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. Nat Genet 2013 1.32
16 Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations. Nephron Physiol 2013 1.31
17 HNF1B mutations associate with hypomagnesemia and renal magnesium wasting. J Am Soc Nephrol 2009 1.29
18 Ophthalmological aspects of Pierson syndrome. Am J Ophthalmol 2008 1.27
19 The salt-wasting phenotype of EAST syndrome, a disease with multifaceted symptoms linked to the KCNJ10 K+ channel. Pflugers Arch 2011 1.23
20 Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. Am J Hum Genet 2013 1.16
21 Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome. J Physiol 2011 1.12
22 KCNJ10 mutations disrupt function in patients with EAST syndrome. Nephron Physiol 2011 1.07
23 Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome. Dis Model Mech 2013 1.05
24 Congenital nephrotic syndrome responsive to angiotensin-converting enzyme inhibition. Pediatr Nephrol 2005 0.94
25 Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS). Nephrol Dial Transplant 2010 0.92
26 Unusual clinical presentation and possible rescue of a novel claudin-16 mutation. J Clin Endocrinol Metab 2006 0.91
27 Mutation analysis of NPHS1 in a worldwide cohort of congenital nephrotic syndrome patients. Nephron Clin Pract 2012 0.90
28 KCNJ10 mutations display differential sensitivity to heteromerisation with KCNJ16. Nephron Physiol 2013 0.89
29 Growth in PHEX-associated X-linked hypophosphatemic rickets: the importance of early treatment. Pediatr Nephrol 2011 0.89
30 Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome. Pediatr Nephrol 2011 0.88
31 Uncovering genomic causes of co-morbidity in epilepsy: gene-driven phenotypic characterization of rare microdeletions. PLoS One 2011 0.87
32 Clinico-pathological correlations of congenital and infantile nephrotic syndrome over twenty years. Pediatr Nephrol 2014 0.86
33 Renal malformations associated with mutations of developmental genes: messages from the clinic. Pediatr Nephrol 2010 0.86
34 Epilepsy in kcnj10 morphant zebrafish assessed with a novel method for long-term EEG recordings. PLoS One 2013 0.86
35 Long-term prognosis of patients with pediatric pheochromocytoma. Endocr Relat Cancer 2013 0.84
36 The risk of cardiovascular disease in adults who have had childhood nephrotic syndrome. Pediatr Nephrol 2004 0.82
37 Hepatocyte Nuclear Factor-4 Alfa Mutation Associated with Hyperinsulinaemic Hypoglycaemia and Atypical Renal Fanconi Syndrome: Expanding the Clinical Phenotype. Horm Res Paediatr 2016 0.81
38 Insulin Receptor and the Kidney: Nephrocalcinosis in Patients with Recessive INSR Mutations. Nephron Physiol 2014 0.80
39 Familial autosomal recessive renal tubular acidosis: importance of early diagnosis. Nephron Physiol 2011 0.80
40 Over- or underfill: not all nephrotic states are created equal. Pediatr Nephrol 2013 0.80
41 Steroid-resistant nephrotic syndrome in a child with dysmorphic features: answers. Pediatr Nephrol 2014 0.78
42 Segment-specific expression of 2P domain potassium channel genes in human nephron. Kidney Int 2004 0.78
43 Filtering the genes and sorting the glomerular filter: a new piece in the puzzle? Nephrol Dial Transplant 2011 0.77
44 Short course daily prednisolone therapy during an upper respiratory tract infection in children with relapsing steroid-sensitive nephrotic syndrome (PREDNOS 2): protocol for a randomised controlled trial. Trials 2014 0.77
45 Similar renal outcomes in children with ADPKD diagnosed by screening or presenting with symptoms. Pediatr Nephrol 2010 0.76
46 Pulse wave velocity, blood pressure and bicycle tyres. Pediatr Nephrol 2011 0.75
47 The blind kidney: disorders affecting kidneys and eyes. Pediatr Nephrol 2013 0.75
48 A patient with polyuria and hydronephrosis: question. Pediatr Nephrol 2011 0.75
49 Postmortem MRI of bladder agenesis. Pediatr Radiol 2010 0.75
50 Subcutaneous nodules in a child on long-term dialysis. Pediatr Nephrol 2013 0.75
51 Rapid head growth in a baby with autosomal dominant polycystic kidney disease (ADPKD): questions. Pediatr Nephrol 2013 0.75