PubRank

Krystyna H Chrzanowska

Author PubWeight™ 26.52‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science 2008 4.04
2 Alternative end joining during switch recombination in patients with ataxia-telangiectasia. Eur J Immunol 2002 1.42
3 Warsaw breakage syndrome, a cohesinopathy associated with mutations in the XPD helicase family member DDX11/ChlR1. Am J Hum Genet 2010 1.42
4 Delineation of the role of the Mre11 complex in class switch recombination. J Biol Chem 2004 1.16
5 Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome. Am J Hum Genet 2004 1.09
6 Mystery of DNA repair: the role of the MRN complex and ATM kinase in DNA damage repair. J Appl Genet 2008 1.01
7 Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations. Hum Mutat 2006 0.97
8 Non-Hodgkin lymphoma (NHL) in children with Nijmegen Breakage syndrome (NBS). Pediatr Blood Cancer 2009 0.97
9 Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes. Hum Genet 2015 0.94
10 Cancer incidence in Nijmegen breakage syndrome is modulated by the amount of a variant NBS protein. Carcinogenesis 2006 0.90
11 Heterozygous germ-line mutations in the NBN gene predispose to medulloblastoma in pediatric patients. Acta Neuropathol 2009 0.87
12 New mutations in the ATM gene and clinical data of 25 AT patients. Neurogenetics 2011 0.85
13 Clinical variability and expression of the NBN c.657del5 allele in Nijmegen Breakage Syndrome. Gene 2009 0.84
14 Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome. Pediatr Nephrol 2014 0.83
15 Loss of juxtaposition of RAG-induced immunoglobulin DNA ends is implicated in the precursor B-cell differentiation defect in NBS patients. Blood 2010 0.83
16 Telomere maintenance and cell cycle regulation in spontaneously immortalized T-cell lines from Nijmegen breakage syndrome patients. Exp Cell Res 2003 0.82
17 Nijmegen breakage syndrome: Long-term monitoring of viral and immunological biomarkers in peripheral blood before development of malignancy. Clin Immunol 2010 0.82
18 Maternal de novo triple mosaicism for two single OCRL nucleotide substitutions (c.1736A>T, c.1736A>G) in a Lowe syndrome family. Hum Genet 2011 0.81
19 Oral findings in patients with Nijmegen breakage syndrome: a preliminary study. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2009 0.80
20 Magnetic resonance imaging of brain abnormalities in patients with the Nijmegen breakage syndrome. Acta Neurobiol Exp (Wars) 2004 0.79
21 Spontaneously immortalized human T lymphocytes develop gain of chromosomal region 2p13-24 as an early and common genetic event. Genes Chromosomes Cancer 2004 0.79
22 Extreme variation in apoptosis capacity amongst lymphoid cells of Nijmegen breakage syndrome patients. Eur J Cell Biol 2007 0.78
23 A regulatory role for NBS1 in strand-specific mutagenesis during somatic hypermutation. PLoS One 2008 0.78
24 The frequency of NBN molecular variants in pediatric astrocytic tumors. J Neurooncol 2009 0.78
25 The defect in humoral immunity in patients with Nijmegen breakage syndrome is explained by defects in peripheral B lymphocyte maturation. Cytometry A 2012 0.78
26 Minimal clinical findings in a patient with 15qter microdeletion syndrome: delineation of the associated phenotype. Am J Med Genet A 2012 0.76
27 [Ocular findings in Nijmegen breakage syndrome]. Klin Oczna 2011 0.76
28 Polish activity within Orphanet Europe - state of art of database and services. Dev Period Med 2015 0.75
29 Ganglioglioma associated with alterations of NBN gene. A case report. Folia Neuropathol 2009 0.75
30 History and molecular characteristics of a patient with terminal deletion of 14q. Is this another syndrome with a striking phenotype? Clin Dysmorphol 2012 0.75