PubRank

Magnus Nordenskjöld

Author PubWeight™ 69.88‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Birt-Hogg-Dubé syndrome: diagnosis and management. Lancet Oncol 2009 3.60
2 Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients. Blood 2007 2.32
3 Detection of human cytomegalovirus in medulloblastomas reveals a potential therapeutic target. J Clin Invest 2011 1.87
4 Cryptic subtelomeric 6p deletion in a girl with congenital malformations and severe language impairment. Eur J Hum Genet 2003 1.56
5 Bi-orientation of achiasmatic chromosomes in meiosis I oocytes contributes to aneuploidy in mice. Nat Genet 2007 1.47
6 Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array. Hum Mutat 2008 1.45
7 Predicting the risk of multiple endocrine neoplasia type 1 for patients with commonly occurring endocrine tumors. Eur J Endocrinol 2012 1.43
8 [QF-PCR or karyotyping in amniocentesis most often not the woman's decision. Difficult to give basis for an informed choice]. Lakartidningen 2007 1.38
9 Inactivation of BHD in sporadic renal tumors. Cancer Res 2003 1.36
10 Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2. Blood 2010 1.28
11 FISH-mapping of a 100-kb terminal 22q13 deletion. Hum Genet 2002 1.27
12 Subtelomeric rearrangements detected in patients with idiopathic mental retardation. Am J Med Genet 2002 1.18
13 Molecular characterization of human telomerase reverse transcriptase-immortalized human fibroblasts by gene expression profiling: activation of the epiregulin gene. Cancer Res 2003 1.18
14 Different NK cell-activating receptors preferentially recruit Rab27a or Munc13-4 to perforin-containing granules for cytotoxicity. Blood 2009 1.16
15 Comparison of primary human cytotoxic T-cell and natural killer cell responses reveal similar molecular requirements for lytic granule exocytosis but differences in cytokine production. Blood 2013 1.11
16 Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis. Br J Haematol 2008 1.09
17 Copy number variation characteristics in subpopulations of patients with autism spectrum disorders. Am J Med Genet B Neuropsychiatr Genet 2010 1.08
18 A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT. J Med Genet 2013 1.08
19 Global expression profiling in atopic eczema reveals reciprocal expression of inflammatory and lipid genes. PLoS One 2008 1.06
20 Birt-Hogg-Dubé renal tumors are genetically distinct from other renal neoplasias and are associated with up-regulation of mitochondrial gene expression. BMC Med Genomics 2010 1.06
21 Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations. Pediatr Blood Cancer 2010 1.01
22 Prenatal diagnosis: molecular genetics and cytogenetics. Best Pract Res Clin Obstet Gynaecol 2002 1.01
23 High expression of cyclin B1 predicts a favorable outcome in patients with follicular lymphoma. Blood 2004 1.00
24 Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome. Am J Med Genet A 2004 0.99
25 Clinical testing for mutations in the MEN1 gene in Sweden: a report on 200 unrelated cases. J Clin Endocrinol Metab 2007 0.98
26 Compound heterozygous HAX1 mutations in a Swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalities. Pediatr Blood Cancer 2009 0.98
27 Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome. Eur J Hum Genet 2005 0.97
28 Combined genetic and transcriptional profiling of acute myeloid leukemia with normal and complex karyotypes. Haematologica 2004 0.96
29 The proteasome inhibitor bortezomib disrupts tumor necrosis factor-related apoptosis-inducing ligand (TRAIL) expression and natural killer (NK) cell killing of TRAIL receptor-positive multiple myeloma cells. Mol Immunol 2010 0.95
30 Neutrophil elastase and granulocyte colony-stimulating factor receptor mutation analyses and leukemia evolution in severe congenital neutropenia patients belonging to the original Kostmann family in northern Sweden. Haematologica 2006 0.95
31 Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D. Blood 2011 0.95
32 Ehlers-Danlos syndrome with severe early-onset periodontal disease (EDS-VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13. Am J Hum Genet 2003 0.93
33 Mantle cell lymphomas acquire increased expression of CCL4, CCL5 and 4-1BB-L implicated in cell survival. Int J Cancer 2006 0.92
34 Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2. Hum Mutat 2005 0.92
35 Proteasome inhibition induces apoptosis in primary human natural killer cells and suppresses NKp46-mediated cytotoxicity. Haematologica 2009 0.91
36 A comparison of different metaphase CGH methods for the detection of cryptic chromosome aberrations of defined size. Eur J Hum Genet 2004 0.90
37 Kostmann syndrome or infantile genetic agranulocytosis, part two: Understanding the underlying genetic defects in severe congenital neutropenia. Acta Paediatr 2007 0.90
38 Characterization of EGFR and ErbB2 expression in atopic dermatitis patients. Arch Dermatol Res 2012 0.89
39 Birt Hogg-Dubé syndrome-associated FLCN mutations disrupt protein stability. Hum Mutat 2011 0.89
40 Syntaxin-11 is expressed in primary human monocytes/macrophages and acts as a negative regulator of macrophage engulfment of apoptotic cells and IgG-opsonized target cells. Br J Haematol 2008 0.88
41 Kostmann syndrome or infantile genetic agranulocytosis, part one: celebrating 50 years of clinical and basic research on severe congenital neutropenia. Acta Paediatr 2006 0.88
42 Different mutations in PDE4D associated with developmental disorders with mirror phenotypes. J Med Genet 2013 0.88
43 Homozygous deletions of CDKN2A are present in all dic(9;20)(p13·2;q11·2)-positive B-cell precursor acute lymphoblastic leukaemias and may be important for leukaemic transformation. Br J Haematol 2012 0.87
44 Association of adenomatous polyposis coli (APC) gene polymorphisms with autism spectrum disorder (ASD). Am J Med Genet B Neuropsychiatr Genet 2007 0.87
45 The aromatase gene CYP19A1: several genetic and functional lines of evidence supporting a role in reading, speech and language. Behav Genet 2012 0.86
46 Array-CGH reveals hidden gene dose changes in children with acute lymphoblastic leukaemia and a normal or failed karyotype by G-banding. Br J Haematol 2008 0.86
47 An interstitial deletion of 7.1Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities. Eur J Med Genet 2009 0.86
48 Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course. Am J Med Genet A 2014 0.85
49 Filaggrin genotype determines functional and molecular alterations in skin of patients with atopic dermatitis and ichthyosis vulgaris. PLoS One 2011 0.85
50 First report on metastasizing small bowel carcinoids in first-degree relatives in three generations. Neuroendocrinology 2010 0.83
51 Combined spectral karyotyping, comparative genomic hybridization, and in vitro apoptyping of a panel of Burkitt's lymphoma-derived B cell lines reveals an unexpected complexity of chromosomal aberrations and a recurrence of specific abnormalities in chemoresistant cell lines. Int J Oncol 2006 0.83
52 Increased expression of Ki-67 in mantle cell lymphoma is associated with de-regulation of several cell cycle regulatory components, as identified by global gene expression analysis. Haematologica 2004 0.82
53 Low plasma levels of the protein pro-LL-37 as an early indication of severe disease in patients with chronic neutropenia. Br J Haematol 2007 0.81
54 Duplication 16q12.1-q22.1 characterized by array CGH in a girl with spina bifida. Eur J Med Genet 2007 0.81
55 Incidence of severe congenital neutropenia in Sweden and risk of evolution to myelodysplastic syndrome/leukaemia. Br J Haematol 2012 0.81
56 Spectral karyotyping and interphase FISH reveal abnormalities not detected by conventional G-banding. Implications for treatment stratification of childhood acute lymphoblastic leukaemia: detailed analysis of 70 cases. Eur J Haematol 2002 0.81
57 Interphase fluorescent in situ hybridization deletion analysis of the 9p21 region and prognosis in childhood acute lymphoblastic leukaemia (ALL): results from a prospective analysis of 519 Nordic patients treated according to the NOPHO-ALL 2000 protocol. Br J Haematol 2011 0.80
58 Novel deep intronic and missense UNC13D mutations in familial haemophagocytic lymphohistiocytosis type 3. Br J Haematol 2013 0.80
59 Detection and delineation of an unusual 17p11.2 deletion by array-CGH and refinement of the Smith-Magenis syndrome minimum deletion to approximately 650 kb. Eur J Med Genet 2005 0.79
60 Detailed clinical description of four patients with 1.3 and 2.1 Mb chromosome imbalances derived from a familial t(12;17)(q24.33;q25.3). Am J Med Genet A 2005 0.79
61 Screening for copy number alterations in loci associated with autism spectrum disorders by two-color multiplex ligation-dependent probe amplification. Am J Med Genet B Neuropsychiatr Genet 2010 0.78
62 Sequence analysis of the granulysin and granzyme B genes in familial hemophagocytic lymphohistiocytosis. Hum Genet 2002 0.78
63 Novel point mutation in the STS gene in a patient with X-linked recessive ichthyosis. J Dermatol Sci 2011 0.78
64 Molecular and cytogenetic analysis in stillbirth: results from 481 consecutive cases. Fetal Diagn Ther 2014 0.78
65 Are BIC (miR-155) polymorphisms associated with eczema susceptibility? Acta Derm Venereol 2013 0.78
66 Genetic variation in the epidermal transglutaminase genes is not associated with atopic dermatitis. PLoS One 2012 0.78
67 Simian AIDS-related lymphoma growth in severe combined immunodeficiency mice is independent of karyotypic abnormalities or Bcl-6 mutations. AIDS Res Hum Retroviruses 2002 0.78
68 Difference between Swedish and Japanese men in the association between AR CAG repeats and prostate cancer suggesting a susceptibility-modifying locus overlapping the androgen receptor gene. Int J Mol Med 2003 0.78
69 Ovarian failure in HAX1-deficient patients: is there a gender-specific difference in pubertal development in severe congenital neutropenia or Kostmann disease? Acta Paediatr 2013 0.77
70 [New analytic methods provide answers regarding chromosome aberrations in 1-2 days]. Lakartidningen 2002 0.75
71 [Birth-Hogg-Dube syndrome--a neglected condition that increases the risk of kidney cancer and pneumothorax]. Lakartidningen 2012 0.75
72 [Kostmann's syndrome largely elucidated--by Swedish research. 50 years since Rolf Kostmann's pioneering work on severe congenital neutropenia]. Lakartidningen 2006 0.75
73 [Gene dosage array can even discover small chromosome changes. More children with developmental deviations may be offered an etiological diagnosis]. Lakartidningen 2010 0.75
74 [Congenital abnormalities require life-long follow up]. Lakartidningen 2010 0.75
75 Molecular cytogenetic approach to the diagnosis of splenic lymphoma: a case report of blastoid mantle cell lymphoma. Leuk Lymphoma 2003 0.75
76 Double de novo mutations of ELANE (ELA2) in a patient with severe congenital neutropenia requiring high-dose G-CSF therapy. Br J Haematol 2009 0.75
77 Multiple inherited sequence variations in two disease-causing genes in familial haemophagocytic lymphohistiocytosis. Br J Haematol 2009 0.75
78 Sequence analysis of the SRGN, AP3B1, ARF6, and SH2D1A genes in familial hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer 2008 0.75