PubRank

Martin Poot

Author PubWeight™ 60.71‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med 2008 10.88
2 Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms. Cell Rep 2012 2.67
3 Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders. PLoS Genet 2012 2.65
4 Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline. Hum Mol Genet 2011 2.43
5 Zoledronic acid exhibits inhibitory effects on osteoblastic and osteolytic metastases of prostate cancer. Clin Cancer Res 2003 2.14
6 Array analysis and karyotyping: workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands. Eur J Med Genet 2009 1.91
7 Microarray-based genome investigation: molecular karyotyping or segmental aneuploidy profiling? Eur J Hum Genet 2006 1.91
8 Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndrome. Eur J Hum Genet 2007 1.83
9 The spectrum of WRN mutations in Werner syndrome patients. Hum Mutat 2006 1.75
10 Constitutional RUNX1 deletion presenting as non-syndromic thrombocytopenia with myelodysplasia: 21q22 ITSN1 as a candidate gene in mental retardation. Leuk Res 2009 1.67
11 WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations. Hum Genet 2010 1.50
12 Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation--clinical report and review. Am J Med Genet A 2006 1.40
13 Wolf-Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions. Eur J Hum Genet 2008 1.36
14 Functional role of the Werner syndrome RecQ helicase in human fibroblasts. Aging Cell 2007 1.32
15 Insights from genomic microarrays into structural chromosome rearrangements. Am J Med Genet A 2005 1.29
16 Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene. Eur J Med Genet 2010 1.27
17 Insulin-like growth factor binding protein-related protein 1 inhibits proliferation of MCF-7 breast cancer cells via a senescence-like mechanism. Cell Growth Differ 2002 1.24
18 Gene-network analysis identifies susceptibility genes related to glycobiology in autism. PLoS One 2009 1.23
19 Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autism. Neurogenetics 2011 1.21
20 A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder. Am J Med Genet B Neuropsychiatr Genet 2010 1.06
21 Discovery of variants unmasked by hemizygous deletions. Eur J Hum Genet 2012 1.02
22 Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus. Eur J Hum Genet 2012 0.95
23 No association between a common single nucleotide polymorphism, rs4141463, in the MACROD2 gene and autism spectrum disorder. Am J Med Genet B Neuropsychiatr Genet 2011 0.89
24 Telomere healing following DNA polymerase arrest-induced breakages is likely the main mechanism generating chromosome 4p terminal deletions. Hum Mutat 2010 0.85
25 Copy number variations in patients with electrical status epilepticus in sleep. J Child Neurol 2011 0.85
26 AKT3 as a candidate gene for corpus callosum anomalies in patients with 1q44 deletions. Eur J Med Genet 2008 0.85
27 A duplication including GATA4 does not co-segregate with congenital heart defects. Am J Med Genet A 2009 0.83
28 Antisense may make sense of 1q44 deletions, seizures, and HNRNPU. Am J Med Genet A 2013 0.79
29 A novel 6.14 Mb duplication of chromosome 8p21 in a patient with autism and self mutilation. J Autism Dev Disord 2008 0.78
30 A girl with an atypical form of ataxia telangiectasia and an additional de novo 3.14 Mb microduplication in region 19q12. Eur J Med Genet 2011 0.77
31 SHANK Mutations May Disorder Brain Development. Mol Syndromol 2015 0.75
32 Chromothripsis after Stumbling through DNA Replication. Mol Syndromol 2015 0.75
33 Recombine and Associate to Prevent Genomic Instability and Premature Aging. Mol Syndromol 2016 0.75
34 A Loss or a Gain, Is It Not All the Same? Mol Syndromol 2016 0.75
35 What a Difference an ERCC1 or ERCC4 (XPF) Mutation Makes! Mol Syndromol 2014 0.75
36 When Recessive Genes Mutate to Dominant Gene Action. Mol Syndromol 2016 0.75
37 Gene Fusion due to Chromosome Misconnection May Seriously Affect Your Health. Mol Syndromol 2015 0.75
38 Discovering Patterns of Structural Variation by Mining Molecular Fossils. Mol Syndromol 2016 0.75
39 From Telomere Crisis via Dicentric Chromosomes to Kataegis and Chromothripsis. Mol Syndromol 2016 0.75
40 To NIPT or Not to NIPT. Mol Syndromol 2015 0.75
41 All humans, great or small, short or tall. Mol Syndromol 2014 0.75
42 Disconnecting CNTNAP2. Mol Syndromol 2016 0.75
43 Late breaking chromosomes. Mol Syndromol 2013 0.75
44 The Growing Complexity of the Monosomy 1p36 Syndrome. Mol Syndromol 2016 0.75
45 Double, Double Toil and Trouble. Mol Syndromol 2015 0.75
46 The Age of the Father. Mol Syndromol 2017 0.75
47 Reduced joining of DNA ends correlates with chromosomal instability in three melanoma cell lines. Tumour Biol 2003 0.75
48 Retrotransposing Gremlins May Disrupt Our Brain's Genomes. Mol Syndromol 2016 0.75
49 Neocentromeres to the Rescue of Acentric Chromosome Fragments. Mol Syndromol 2017 0.75
50 Chromosomal abnormalities resembling Joubert syndrome: two cases illustrating the diagnostic pitfalls. Clin Dysmorphol 2011 0.75
51 Cytogenetic aberrations in neuropathy associated with IgM monoclonal gammopathy. J Neurol Sci 2007 0.75
52 Adding Insult to Injury, Complexity to Intricacy. Mol Syndromol 2017 0.75
53 Of Simple and Complex Genome Rearrangements, Chromothripsis, Chromoanasynthesis, and Chromosome Chaos. Mol Syndromol 2017 0.75