Hanna Shalev

Author PubWeight™ 14.57‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia. Nat Genet 2002 2.63
2 CATSPER2, a human autosomal nonsyndromic male infertility gene. Eur J Hum Genet 2003 1.54
3 Elevated growth differentiation factor 15 expression in patients with congenital dyserythropoietic anemia type I. Blood 2008 1.43
4 Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1. Am J Hum Genet 2002 1.32
5 Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis. Ann Neurol 2006 1.19
6 Transient neonatal hyperkalemia in the antenatal (ROMK defective) Bartter syndrome. J Pediatr 2003 0.94
7 Two novel homozygous SLC2A9 mutations cause renal hypouricemia type 2. Nephrol Dial Transplant 2011 0.86
8 Inherited renal tubular dysgenesis may not be universally fatal. Pediatr Nephrol 2010 0.85
9 Transient severe metastatic calcification in acute renal failure. Pediatr Nephrol 2006 0.82
10 Familial steroid-sensitive nephrotic syndrome in Southern Israel: clinical and genetic observations. Pediatr Nephrol 2007 0.81
11 Identification and characterization of the first mutation (Arg776Cys) in the C-terminal domain of the Human Molybdenum Cofactor Sulfurase (HMCS) associated with type II classical xanthinuria. Mol Genet Metab 2007 0.80
12 Normal hemoglobin at the age of 1 year does not protect infants from developing iron deficiency anemia in the second year of life. J Pediatr Hematol Oncol 2011 0.76
13 Persistent pulmonary hypertension of the newborn associated with severe congenital anemia of various etiologies. J Pediatr Hematol Oncol 2015 0.75
14 [Childhood genetic renal diseases in southern Israel]. Harefuah 2010 0.75
15 Genetic kidney diseases in the pediatric population of southern Israel. Pediatr Nephrol 2006 0.75