PubRank

Carlo Marcelis

Author PubWeight™ 21.88‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nat Genet 2010 3.60
2 Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet 2005 2.40
3 A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. Am J Med Genet A 2015 1.60
4 Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients. Eur J Hum Genet 2010 1.27
5 The Currarino triad: neurosurgical considerations. Neurosurgery 2006 1.22
6 Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice. PLoS Genet 2011 1.13
7 Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome). Am J Med Genet A 2012 1.02
8 PORCN mutations in focal dermal hypoplasia: coping with lethality. Hum Mutat 2009 1.02
9 DHPLC analysis of potassium ion channel genes in congenital long QT syndrome. Hum Mutat 2002 0.95
10 Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation. Orphanet J Rare Dis 2011 0.95
11 Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man. Eur J Hum Genet 2008 0.94
12 "This bicycle gives me a headache", a congenital anomaly. BMC Res Notes 2013 0.87
13 Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations. Orphanet J Rare Dis 2013 0.86
14 Haploinsufficiency of the gene Quaking (QKI) is associated with the 6q terminal deletion syndrome. Am J Med Genet A 2010 0.85
15 Mutation-based growth charts for SEDC and other COL2A1 related dysplasias. Am J Med Genet C Semin Med Genet 2012 0.84
16 De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis of EFNB2 in patients with anorectal malformations. Am J Med Genet A 2013 0.82
17 Severe phenotype of severe combined immunodeficiency caused by adenosine deaminase deficiency in a patient with a homozygous mutation due to uniparental disomy. J Allergy Clin Immunol 2012 0.78
18 Two patients with intellectual disability, overlapping facial features, and overlapping deletions in 6p25.1p24.3. Clin Dysmorphol 2013 0.77
19 Early onset dystonia and parkinsonism with abnormal globus pallidal signal in MRI: a diagnostic challenge. Mov Disord 2013 0.76
20 Dilation of the Aorta Ascendens Forms Part of the Clinical Spectrum of HCN4 Mutations. J Am Coll Cardiol 2016 0.75