PubRank

Pablo Lapunzina

Author PubWeight™ 60.72‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome. Am J Hum Genet 2003 2.24
2 HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. Am J Med Genet A 2006 1.94
3 Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment. Genome Res 2014 1.64
4 Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta. Hum Mutat 2011 1.42
5 NOTCH2 mutations in Alagille syndrome. J Med Genet 2011 1.40
6 Mutations in WNT1 cause different forms of bone fragility. Am J Hum Genet 2013 1.39
7 Epigenetic inactivation of the Sotos overgrowth syndrome gene histone methyltransferase NSD1 in human neuroblastoma and glioma. Proc Natl Acad Sci U S A 2009 1.27
8 Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. J Clin Invest 2014 1.24
9 Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling. Hum Mutat 2009 1.19
10 Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence. Hum Mutat 2008 1.19
11 Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome. Am J Med Genet A 2007 1.18
12 Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain. PLoS Genet 2013 1.16
13 Reduced hepatic expression of farnesoid X receptor in hereditary cholestasis associated to mutation in ATP8B1. Hum Mol Genet 2004 1.13
14 Cancer genes hypermethylated in human embryonic stem cells. PLoS One 2008 1.12
15 Methylation screening of reciprocal genome-wide UPDs identifies novel human-specific imprinted genes. Hum Mol Genet 2011 1.09
16 Genome-wide allelic methylation analysis reveals disease-specific susceptibility to multiple methylation defects in imprinting syndromes. Hum Mutat 2013 1.09
17 Macrocephaly-capillary malformation: Analysis of 13 patients and review of the diagnostic criteria. Am J Med Genet A 2010 1.08
18 Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation. Hum Mutat 2010 1.08
19 A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review. BMC Med Genet 2009 1.07
20 Familial occurrence of the IMAGe association: additional clinical variants and a proposed mode of inheritance. J Clin Endocrinol Metab 2005 1.06
21 CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms. Am J Med Genet A 2010 1.06
22 Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum. Hum Mutat 2012 1.05
23 Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option. Epilepsia 2013 1.04
24 The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary cilia. Hum Mol Genet 2012 1.00
25 A prenatally diagnosed patient with full monosomy 21: ultrasound, cytogenetic, clinical, molecular, and necropsy findings. Am J Med Genet A 2004 1.00
26 PAR1 deletions downstream of SHOX are the most frequent defect in a Spanish cohort of Léri-Weill dyschondrosteosis (LWD) probands. Hum Mutat 2006 1.00
27 Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype. Am J Hum Genet 2011 0.96
28 Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques. Eur J Hum Genet 2011 0.95
29 Stratification of Wilms tumor by genetic and epigenetic analysis. Oncotarget 2012 0.95
30 Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations. Am J Med Genet A 2013 0.92
31 Simpson-Golabi-Behmel syndrome types I and II. Orphanet J Rare Dis 2014 0.90
32 Multiple giant pilomatricoma in familial Sotos syndrome. Pediatr Dermatol 2008 0.89
33 Unrelated chromosomal anomalies found in patients with suspected 22q11.2 deletion. Am J Med Genet A 2008 0.89
34 Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism. J Med Genet 2010 0.89
35 Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus. J Clin Endocrinol Metab 2012 0.89
36 Adults with Sotos syndrome: review of 21 adults with molecularly confirmed NSD1 alterations, including a detailed case report of the oldest person. Am J Med Genet A 2011 0.87
37 A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2. J Biol Chem 2012 0.87
38 A parallel study of different array-CGH platforms in a set of Spanish patients with developmental delay and intellectual disability. Gene 2013 0.85
39 Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta. Am J Med Genet A 2014 0.84
40 Customized high resolution CGH-array for clinical diagnosis reveals additional genomic imbalances in previous well-defined pathological samples. Am J Med Genet A 2013 0.84
41 Beckwith-Wiedemann syndrome due to 11p15.5 paternal duplication associated with Klinefelter syndrome and a "de novo" pericentric inversion of chromosome Y. Eur J Med Genet 2005 0.84
42 Follow-up and risk of tumors in overgrowth syndromes. J Pediatr Endocrinol Metab 2005 0.84
43 Laurin-Sandrow syndrome: review and redefinition. Am J Med Genet A 2008 0.83
44 Segmental uniparental disomy leading to homozygosity for a pathogenic mutation in three recessive metabolic diseases. Mol Genet Metab 2011 0.83
45 Analysis of invdupdel(8p) rearrangement: Clinical, cytogenetic and molecular characterization. Am J Med Genet A 2015 0.82
46 Molecular diagnosis of Beckwith-Wiedemann syndrome using quantitative methylation-sensitive polymerase chain reaction. Genet Med 2006 0.82
47 Sotos syndrome is associated with leukemia/lymphoma. Am J Med Genet A 2007 0.82
48 Additional case of an uncommon 22q11.2 reciprocal rearrangement in a phenotypically normal mother of children with 22q11.2 deletion and 22q11.2 duplication syndromes. Am J Med Genet A 2012 0.82
49 The G397A (E133K) change in the AGGF1 (VG5Q) gene is a single nucleotide polymorphism in the Spanish population. Am J Med Genet A 2006 0.82
50 Direct tandem duplication in chromosome 19q characterized by array CGH. Eur J Med Genet 2008 0.81
51 Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects. Am J Med Genet A 2014 0.81
52 Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. J Clin Invest 2015 0.80
53 Constitutional and somatic methylation status of DMRH19 and KvDMR in Wilms tumor patients. Genet Mol Biol 2012 0.80
54 A new overgrowth syndrome is due to mutations in RNF125. Hum Mutat 2014 0.79
55 Higher frequency of uncommon 1.5-2 Mb deletions found in familial cases of 22q11.2 deletion syndrome. Am J Med Genet A 2005 0.79
56 Craniofacial dyssynostosis: description of the first four Spanish cases and review. Am J Med Genet A 2005 0.78
57 Segmental uniparental isodisomy of chromosome 6 causing transient diabetes mellitus and merosin-deficient congenital muscular dystrophy. Am J Med Genet A 2014 0.77
58 Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: clinical, pathological, and molecular findings. Am J Med Genet A 2007 0.77
59 Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome. Am J Med Genet A 2005 0.76
60 Alagille syndrome: cutaneous manifestations in 38 children. Pediatr Dermatol 2005 0.76
61 Celiac disease and microcephaly. J Pediatr 2002 0.75
62 Other tumors in Sotos syndrome. Am J Med Genet A 2005 0.75
63 New findings in craniofacial dyssynostosis. Am J Med Genet A 2005 0.75
64 Capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry and partial/generalized overgrowth (CLAPO): report of six cases of a new syndrome/association. Am J Med Genet A 2008 0.75
65 A novel mutation in CDKN1C in sibs with Beckwith-Wiedemann syndrome and cleft palate, sensorineural hearing loss, and supernumerary flexion creases. Am J Med Genet A 2012 0.75
66 Umbilical cord stricture is not a genetic anomaly: a study in twins. Pediatr Dev Pathol 2007 0.75
67 Mietens-Weber syndrome: two new patients and a review. Clin Dysmorphol 2006 0.75
68 Unusual four-generation chromosome-22 rearrangement: when "normality" masks abnormality. Am J Med Genet A 2009 0.75