PubRank

Maria Syrrou

Author PubWeight™ 17.28‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family. Nat Genet 2002 3.90
2 CpG methylation analysis of the MEG3 and SNRPN imprinted genes in acute myeloid leukemia and myelodysplastic syndromes. Leuk Res 2010 2.02
3 Novel TRPM6 mutations in 21 families with primary hypomagnesemia and secondary hypocalcemia. J Am Soc Nephrol 2005 1.52
4 Promoter hypermethylation of the MEG3 (DLK1/MEG3) imprinted gene in multiple myeloma. Clin Lymphoma Myeloma 2008 1.04
5 Retrotransposon RNA expression and evidence for retrotransposition events in human oocytes. Hum Mol Genet 2009 0.99
6 Genetic and epigenetic risks of intracytoplasmic sperm injection method. Asian J Androl 2006 0.95
7 Allelic imbalance of expression and epigenetic regulation within the alpha-synuclein wild-type and p.Ala53Thr alleles in Parkinson disease. Hum Mutat 2010 0.83
8 An interstitial 4q31.21q31.22 microdeletion associated with developmental delay: case report and literature review. Cytogenet Genome Res 2014 0.83
9 Mosaic trisomy r(14) associated with epilepsy and mental retardation. J Child Neurol 2007 0.82
10 Methylation status of the SNRPN and HUMARA genes in testicular biopsy samples. Fertil Steril 2007 0.81
11 A gene for nonsyndromic X-linked mental retardation (MRX77) maps to Xq12-Xq21.33. Am J Med Genet A 2003 0.80
12 Absence of methylation-dependent transcriptional silencing in TP73 irrespective of the methylation status of the CDKN2A CpG island in plasma cell neoplasia. Leuk Res 2009 0.80
13 Refining the locus of branchio-otic syndrome 2 (BOS2) to a 5.25 Mb locus on chromosome 1q31.3q32.1. Eur J Med Genet 2009 0.77
14 The absence of CDKN1C (p57KIP2) promoter methylation in myeloid malignancies also characterizes plasma cell neoplasms. Br J Haematol 2008 0.75
15 Abnormal DLK1/MEG3 imprinting correlates with decreased HERV-K methylation after assisted reproduction and preimplantation genetic diagnosis. Stress 2013 0.75
16 Angiotensin II type 2 receptor gene polymorphism in Caucasian children with a wide spectrum of congenital anomalies of the kidney and urinary tract. Pediatr Res 2007 0.75
17 Kennedy disease: avoiding misdiagnosis. Arch Neurol 2003 0.75