Thomas J Neuhaus

Author PubWeight™ 38.93‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet 2011 3.06
2 Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. Am J Hum Genet 2008 2.74
3 SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. Proc Natl Acad Sci U S A 2004 2.41
4 Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. J Med Genet 2010 1.76
5 Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD). Kidney Int 2005 1.55
6 Latex allergy in children with urological malformation and chronic renal failure. J Urol 2004 1.42
7 ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. Nat Genet 2013 1.32
8 Health-related quality of life and psychosocial adjustment in steroid-sensitive nephrotic syndrome. J Pediatr 2004 1.26
9 Children with steroid-sensitive nephrotic syndrome come of age: long-term outcome. J Pediatr 2005 1.25
10 Ocular involvement in paediatric haemolytic uraemic syndrome. Acta Ophthalmol 2010 1.12
11 Antenatal oligohydramnios of renal origin: long-term outcome. Nephrol Dial Transplant 2006 1.06
12 Renal tubular dysgenesis, a not uncommon autosomal recessive disorder leading to oligohydramnios: Role of the Renin-Angiotensin system. J Am Soc Nephrol 2006 1.06
13 Reduced systolic myocardial function in children with chronic renal insufficiency. J Am Soc Nephrol 2007 1.06
14 Neuropsychologic side-effects of tacrolimus in pediatric renal transplantation. Clin Transplant 2003 0.98
15 Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS). Nephrol Dial Transplant 2010 0.92
16 Recovery of renal function after long-term dialysis in hemolytic uremic syndrome. Pediatr Nephrol 2003 0.91
17 Siblings with infantile cerebral stroke and delayed multivessel involvement--a new hereditary vasculopathy? Eur J Paediatr Neurol 2007 0.87
18 Hyperuricemia and gout following pediatric renal transplantation. Pediatr Nephrol 2006 0.87
19 Inherited renal tubular dysgenesis: the first patients surviving the neonatal period. Eur J Pediatr 2007 0.86
20 Angiotensin-converting enzyme inhibitor fetopathy: long-term outcome. Arch Dis Child Fetal Neonatal Ed 2007 0.84
21 Neurodevelopmental long-term outcome in children after hemolytic uremic syndrome. Pediatr Nephrol 2014 0.83
22 Intellectual and motor performance, quality of life and psychosocial adjustment in children with cystinosis. Pediatr Nephrol 2009 0.82
23 Outcome after renal transplantation. Part II: quality of life and psychosocial adjustment. Pediatr Nephrol 2008 0.82
24 Angiotensin converting enzyme gene polymorphisms do not predict the course of idiopathic nephrotic syndrome in Swiss children. Nephrology (Carlton) 2006 0.80
25 Metabolic and orthopedic management of X-linked vitamin D-resistant hypophosphatemic rickets. J Child Orthop 2008 0.80
26 Open and laparoscopic living donor nephrectomy in Switzerland: a retrospective assessment of clinical outcomes and the motivation to donate. Nephrol Dial Transplant 2006 0.79
27 Selective late steroid withdrawal after renal transplantation. Pediatr Nephrol 2007 0.78
28 Efficacy and safety of basiliximab in pediatric renal transplant patients receiving cyclosporine, mycophenolate mofetil, and steroids. Transplantation 2008 0.77
29 Detection of a novel variant human hemoglobin by electrospray ionization mass spectrometry. Biochem Biophys Res Commun 2002 0.77
30 Immunization in children with chronic renal failure. Pediatr Nephrol 2002 0.77
31 Recurrence of severe steroid dependency in cyclosporin A-treated childhood idiopathic nephrotic syndrome. Nephrol Dial Transplant 2004 0.77
32 Outcome after renal transplantation. Part I: intellectual and motor performance. Pediatr Nephrol 2008 0.76
33 Successful long-term outcome after renal transplantation in a patient with atypical haemolytic uremic syndrome with combined membrane cofactor protein CD46 and complement factor I mutations. Pediatr Nephrol 2013 0.76
34 Boy with autosomal recessive polycystic kidney and autosomal dominant polycystic liver disease. Pediatr Nephrol 2012 0.75
35 Influence of family structure on course of steroid-sensitive nephrotic syndrome. Pediatr Nephrol 2002 0.75
36 Severe acute abdominal pain in idiopathic nephrotic syndrome. Pediatr Nephrol 2003 0.75
37 Obesity and other clinical endpoints in steroid-sensitive nephrotic syndrome. Pediatr Nephrol 2006 0.75
38 Weight dosing of steroids in nephrotic syndrome. Pediatr Nephrol 2011 0.75
39 Behavioural abnormalities in children with nephrotic syndrome--an underappreciated complication of a standard treatment? Nephrol Dial Transplant 2010 0.75
40 Transplantation of infant en bloc kidneys into paediatric recipients. Pediatr Nephrol 2005 0.75
41 An 8-year old boy with recurrent macroscopic hematuria, weight loss, and kidney failure. J Pediatr 2003 0.75
42 Cardiac rhythm disturbances in children on hemodialysis. Pediatr Nephrol 2002 0.75
43 Analbuminemia in a Swiss family is caused by a C --> T transition at nucleotide 4446 of the albumin gene. Clin Biochem 2005 0.75
44 [Nursing needs of renal transplanted adolescents, a descriptive cross sectional study in a Swiss hospital]. Pflege 2009 0.75
45 [Renal transplanted adolescents' perception of the relationship to the interdisciplinary health care team]. Pflege 2009 0.75
46 Hyperammonaemic encephalopathy in a 13-year-old boy. Eur J Pediatr 2002 0.75
47 The child with initially refractory skin infection after renal transplantation. Nephrol Dial Transplant 2002 0.75