PubRank

Elisabeth Flori

Author PubWeight™ 22.44‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature 2011 2.59
2 SRPX2 mutations in disorders of language cortex and cognition. Hum Mol Genet 2006 2.34
3 DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. Am J Hum Genet 2009 2.03
4 Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. Hum Mol Genet 2004 1.94
5 ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. Nat Genet 2008 1.78
6 Severe combined immunodeficiency caused by deficiency in either the delta or the epsilon subunit of CD3. J Clin Invest 2004 1.33
7 Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation. Proc Natl Acad Sci U S A 2009 1.33
8 Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18). J Med Genet 2013 1.32
9 Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures. Am J Med Genet A 2012 1.21
10 Genetic compensation in a human genomic disorder. N Engl J Med 2009 1.05
11 Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. J Med Genet 2011 1.02
12 Complete androgen insensitivity syndrome is frequently due to premature stop codons in exon 1 of the androgen receptor gene: an international collaborative report of 13 new mutations. Fertil Steril 2009 0.90
13 Pallister-Killian syndrome: difficulties of prenatal diagnosis. Prenat Diagn 2002 0.87
14 Gastrointestinal stromal tumor in an XYY/XY male. Cancer Genet Cytogenet 2002 0.85
15 Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion. Am J Med Genet A 2015 0.80
16 Proximal 15q familial euchromatic variant and PWS/AS critical region duplication in the same patient: a cytogenetic pitfall. Eur J Med Genet 2008 0.77
17 Three new BLM gene mutations associated with Bloom syndrome. Genet Test 2008 0.77
18 Prenatal sonographic diagnosis of the 49,XXXXY syndrome. Prenat Diagn 2002 0.75
19 Prenatal diagnosis of a 12q22q23.2 interstitial deletion by array CGH in a malformed fetus. Eur J Med Genet 2012 0.75
20 Mosaic trisomy 13 on chorionic villi in a fetus with body wall complex: fortuitous association or pathogenic hypothesis? Prenat Diagn 2003 0.75
21 Neural tube defects: the experience of the registry of congenital malformations of Alsace, France, 1995-2009. Fetal Diagn Ther 2014 0.75
22 Contribution of 3D ultrasound and fetal face studies to the prenatal diagnosis of Pallister-Killian syndrome. J Matern Fetal Neonatal Med 2010 0.75