PubRank

Marco Seri

Author PubWeight™ 60.94‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families. Blood 2011 2.29
2 Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations. Haematologica 2007 2.23
3 EXCAVATOR: detecting copy number variants from whole-exome sequencing data. Genome Biol 2013 1.90
4 Defective expression of GPIb/IX/V complex in platelets from patients with May-Hegglin anomaly and Sebastian syndrome. Haematologica 2002 1.46
5 A heritable cause of cleft lip and palate--Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis. Eur J Pediatr 2009 1.38
6 Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2. Am J Hum Genet 2011 1.37
7 Genetics, clinical and pathological features of glomerulonephritis associated with mutations of nonmuscle myosin IIA (Fechtner syndrome). Am J Kidney Dis 2003 1.36
8 Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene. Kidney Int 2004 1.35
9 Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease. Hum Mutat 2008 1.34
10 ANKRD26-related thrombocytopenia and myeloid malignancies. Blood 2013 1.32
11 Non-muscle myosin heavy chain IIA and IIB interact and co-localize in living cells: relevance for MYH9-related disease. Int J Mol Med 2006 1.26
12 Genetic predisposition to familial neuroblastoma: identification of two novel genomic regions at 2p and 12p. Hum Hered 2007 1.19
13 MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations. Hum Mutat 2013 1.15
14 Spinocerebellar ataxia type 28: a novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis. Cerebellum 2008 1.13
15 Identifying gene-environment interactions in schizophrenia: contemporary challenges for integrated, large-scale investigations. Schizophr Bull 2014 1.10
16 SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2. Brain 2005 1.09
17 Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations. Am J Med Genet A 2012 1.08
18 EX-HOM (EXome HOMozygosity): a proof of principle. Hum Hered 2011 1.06
19 Molecular characterization of a t(2;6) balanced translocation that is associated with a complex phenotype and leads to truncation of the TCBA1 gene. Hum Mutat 2005 1.06
20 A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation. Am J Med Genet A 2007 1.03
21 Weak linkage at 4p16 to predisposition for human neuroblastoma. Oncogene 2002 1.00
22 Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder. Thromb Haemost 2010 0.98
23 Clinical and genetic characterization of Chanarin-Dorfman syndrome. Biochem Biophys Res Commun 2008 0.97
24 Previously undescribed nonsense mutation in SHH caused autosomal dominant holoprosencephaly with wide intrafamilial variability. Am J Med Genet A 2003 0.97
25 MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever. Eur J Hum Genet 2005 0.95
26 Adult-onset Alexander disease : report on a family. J Neurol 2007 0.93
27 Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: further delineation of the phenotype. Am J Med Genet A 2013 0.93
28 FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype. Dev Med Child Neurol 2011 0.92
29 Localization of a gene for nonsyndromic renal hypodysplasia to chromosome 1p32-33. Am J Hum Genet 2007 0.90
30 Linkage analysis in families with recurrent neuroblastoma. Ann N Y Acad Sci 2002 0.90
31 A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree. Eur J Hum Genet 2012 0.89
32 Genetics of human enteric neuropathies. Prog Neurobiol 2012 0.89
33 Immunocytochemistry for the heavy chain of the non-muscle myosin IIA as a diagnostic tool for MYH9-related disorders. Br J Haematol 2002 0.87
34 A novel autosomal dominant non-syndromic deafness locus (DFNA48) maps to 12q13-q14 in a large Italian family. Hum Genet 2002 0.87
35 Confirmation of CLIM2/LMX1B interaction by yeast two-hybrid screening and analysis of its involvement in nail-patella syndrome. Int J Mol Med 2003 0.86
36 A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents. Genet Med 2010 0.86
37 Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females. Am J Hum Genet 2009 0.85
38 A novel p63 mutation in a fetus with ultrasound detection of split hand/foot malformation. Prenat Diagn 2012 0.85
39 HOX11L1: a promoter study to evaluate possible expression defects in intestinal motility disorders. Int J Mol Med 2002 0.85
40 Novel mutations in the USH1C gene in Usher syndrome patients. Mol Vis 2010 0.85
41 A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23-q24. Eur J Hum Genet 2007 0.84
42 Gene dosage of the spermidine/spermine N(1)-acetyltransferase ( SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD). Hum Genet 2002 0.84
43 SLFN14-related thrombocytopenia: identification within a large series of patients with inherited thrombocytopenia. Thromb Haemost 2016 0.83
44 A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype. Epilepsia 2013 0.82
45 Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients. Hum Mutat 2002 0.82
46 Interaction of the LMX1B and PAX2 gene products suggests possible molecular basis of differential phenotypes in Nail-Patella syndrome. Eur J Hum Genet 2005 0.82
47 PHOX2B mutations and genetic predisposition to neuroblastoma. Oncogene 2005 0.81
48 Where Birt-Hogg-Dubé meets Cowden syndrome: mirrored genetic defects in two cases of syndromic oncocytic tumours. Eur J Hum Genet 2013 0.81
49 Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina. Hum Mutat 2012 0.81
50 Glomerulocystic kidney disease in a family. Nephrol Dial Transplant 2002 0.81
51 Meier-Gorlin syndrome (ear-patella-short stature syndrome) in an Italian patient: clinical evaluation and analysis of possible candidate genes. Am J Med Genet 2002 0.80
52 Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype. Am J Med Genet A 2013 0.79
53 Analysis of clinically relevant single-nucleotide polymorphisms by use of microelectronic array technology. Clin Chem 2002 0.79
54 Deciphering chronic intestinal pseudo-obstruction: do mice help to solve the riddle? Gastroenterology 2007 0.79
55 The breakpoint identified in a balanced de novo translocation t(7;9)(p14.1;q31.3) disrupts the A-kinase (PRKA) anchor protein 2 gene (AKAP2) on chromosome 9 in a patient with Kallmann syndrome and bone anomalies. Int J Mol Med 2007 0.78
56 Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation. Blood 2009 0.78
57 Mutations responsible for MYH9-related thrombocytopenia impair SDF-1-driven migration of megakaryoblastic cells. Thromb Haemost 2011 0.77
58 Definition of the neurological phenotype associated with dup (X)(p11.22-p11.23). Epileptic Disord 2011 0.77
59 Autosomal dominant partial epilepsy with auditory features: a new locus on chromosome 19q13.11-q13.31. Epilepsia 2014 0.77
60 Transfection of the mutant MYH9 cDNA reproduces the most typical cellular phenotype of MYH9-related disease in different cell lines. Pathogenetics 2008 0.76
61 MYH9 related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype. Eur J Haematol 2009 0.76
62 An additional family with association of hereditary thrombocytosis and transverse limb deficiency: confirmation of a rare clinical spectrum. Am J Med Genet A 2012 0.75
63 Psychological consequences of prenatal diagnosis in a case of familial Angelman syndrome. Prenat Diagn 2006 0.75
64 Persistence of a monosomic cell line in a fetus with mosaic trisomy 8. Am J Med Genet A 2011 0.75
65 Dissecting clinical findings: platelet defects segregate independently of deafness and cataract in a family affected by an apparent syndromic form of macrothrombocytopenia. Int J Mol Med 2005 0.75
66 Genetic heterogeneity in inherited spastic paraplegia associated with epilepsy. Am J Med Genet A 2003 0.75