PubRank

Armand Bottani

Author PubWeight™ 40.08‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet 2004 5.19
2 Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature 2011 2.59
3 Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). Am J Hum Genet 2007 2.22
4 Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21. Eur J Hum Genet 2008 1.90
5 Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. Nat Genet 2012 1.70
6 Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster. Genome Res 2014 1.63
7 Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report. Genet Med 2011 1.62
8 Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome. PLoS Genet 2011 1.60
9 Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect. Am J Hum Genet 2003 1.59
10 High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. J Med Genet 2013 1.50
11 Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: clinical and genetic analysis. Am J Med Genet A 2006 1.23
12 Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature. Am J Med Genet B Neuropsychiatr Genet 2013 1.13
13 Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1. Am J Hum Genet 2006 1.12
14 Nicolaides-Baraitser syndrome: Delineation of the phenotype. Am J Med Genet A 2009 1.11
15 Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families. Hum Mutat 2014 1.08
16 Identification of mutations in TCOF1: use of molecular analysis in the pre- and postnatal diagnosis of Treacher Collins syndrome. Am J Med Genet A 2004 0.96
17 Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome. Hum Mutat 2006 0.93
18 Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes. Hum Mutat 2009 0.92
19 A de novo 1.1-1.6 Mb subtelomeric deletion of chromosome 20q13.33 in a patient with learning difficulties but without obvious dysmorphic features. Am J Med Genet A 2007 0.91
20 Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP. Hum Mutat 2012 0.88
21 Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome. J Med Genet 2009 0.88
22 Association of multiple vertebral hemangiomas and severe paraparesis in a patient with a PTEN hamartoma tumor syndrome. Case report. J Neurosurg 2007 0.87
23 MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother. Brain Dev 2006 0.84
24 Prenatal diagnostic indicators of paternal uniparental disomy 14. Prenat Diagn 2006 0.84
25 Alexander disease: early presence of cerebral MRI criteria. Eur J Paediatr Neurol 2009 0.83
26 Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients. Am J Med Genet A 2008 0.82
27 Tibial aplasia-hypoplasia and ectrodactyly in monozygotic twins with a discordant phenotype. J Pediatr Orthop 2007 0.81
28 Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1. Am J Med Genet A 2012 0.77
29 Expanding the phenotype of fragile X-associated tremor/ataxia syndrome: a new female case. Mov Disord 2007 0.77
30 No major contribution of the TGFBR1- and TGFBR2-mediated pathway to Kabuki syndrome. Am J Med Genet A 2006 0.77
31 Homozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: could biallelic loss of conserved, non-coding elements lead to a phenotype? Eur J Med Genet 2011 0.76
32 Clinicopathologic and molecular analysis of a choroidal pigmented schwannoma in the context of a PTEN hamartoma tumor syndrome. Ophthalmology 2012 0.75
33 Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation. Eur J Pediatr 2011 0.75
34 Proteus syndrome revealing itself after the treatment of a bilateral subdural haematoma. Childs Nerv Syst 2013 0.75
35 [How should a muscular disease be studied?]. Rev Med Suisse Romande 2003 0.75