PubRank

Claude Bendavid

Author PubWeight™ 24.99‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. Arch Gen Psychiatry 2009 2.82
2 Holoprosencephaly. Orphanet J Rare Dis 2007 2.63
3 Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases. Acta Neuropathol 2008 1.64
4 Prediction of liver fibrosis in patients with features of the metabolic syndrome regardless of alcohol consumption. Hepatology 2004 1.58
5 Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations. Hum Mutat 2004 1.41
6 The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis. Hum Mutat 2009 1.32
7 The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism. Hum Mutat 2009 1.23
8 Twelve new patients with 13q deletion syndrome: genotype-phenotype analyses in progress. Eur J Med Genet 2008 1.19
9 New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases. J Med Genet 2011 1.04
10 Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series. Eur J Med Genet 2009 1.02
11 Genetic counseling and "molecular" prenatal diagnosis of holoprosencephaly (HPE). Am J Med Genet C Semin Med Genet 2010 1.02
12 Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans. Hum Genet 2009 1.01
13 NOTCH, a new signaling pathway implicated in holoprosencephaly. Hum Mol Genet 2010 0.98
14 Review of disrupted sleep patterns in Smith-Magenis syndrome and normal melatonin secretion in a patient with an atypical interstitial 17p11.2 deletion. Am J Med Genet A 2009 0.87
15 Haploinsufficiency of cytochrome P450 17alpha-hydroxylase/17,20 lyase (CYP17) causes infertility in male mice. Mol Endocrinol 2005 0.87
16 Factor VII deficiency and developmental abnormalities in a patient with partial monosomy of 13q and trisomy of 16p: case report and review of the literature. BMC Med Genet 2006 0.86
17 Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci. Orphanet J Rare Dis 2011 0.85
18 Caesarean section at term: the relationship between neonatal respiratory morbidity and microviscosity in amniotic fluid. Eur J Obstet Gynecol Reprod Biol 2013 0.77
19 Holoprosencephaly-Polydactyly syndrome: in search of an etiology. Eur J Med Genet 2007 0.76
20 Mouse genetic background impacts both on iron and non-iron metals parameters and on their relationships. Biometals 2015 0.76
21 Reassessment of the algorithm for prediction of liver fibrosis in patients with features of the metabolic syndrome. Hepatology 2006 0.75
22 Bioinformatic software for cerebrospinal fluid spectrophotometry in suspected subarachnoid haemorrhage. Ann Clin Biochem 2012 0.75
23 Importance of the functional sensitivity determination of a serum hyaluronic acid assay for the prediction of liver fibrosis in patients with features of the metabolic syndrome. Clin Chem Lab Med 2006 0.75
24 Performance of a quick pregnancy test on whole blood in early pregnancy units: a prospective cohort study. Eur J Emerg Med 2017 0.75