PubRank

Delphine Héron

Author PubWeight™ 57.92‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet 2006 11.14
2 Characterization of a germ-line deletion, including the entire INK4/ARF locus, in a melanoma-neural system tumor family: identification of ANRIL, an antisense noncoding RNA whose expression coclusters with ARF. Cancer Res 2007 4.47
3 Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. Am J Hum Genet 2012 3.80
4 Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. Nat Genet 2011 2.52
5 β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. Brain 2013 2.40
6 Specific genetic disorders and autism: clinical contribution towards their identification. J Autism Dev Disord 2005 2.03
7 Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. J Med Genet 2007 1.89
8 Key clinical features to identify girls with CDKL5 mutations. Brain 2008 1.59
9 Psychiatric and cognitive phenotype of childhood myotonic dystrophy type 1. Dev Med Child Neurol 2012 1.53
10 FXTAS: new insights and the need for revised diagnostic criteria. Neurology 2012 1.39
11 PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy. Am J Hum Genet 2013 1.33
12 MECP2 mutation in a boy with language disorder and schizophrenia. Am J Psychiatry 2002 1.28
13 Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive. Am J Med Genet A 2006 1.25
14 Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome. J Med Genet 2010 1.21
15 Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression. Hum Mol Genet 2009 1.13
16 The three stages of epilepsy in patients with CDKL5 mutations. Epilepsia 2008 1.11
17 STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients. Epilepsia 2011 1.09
18 Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. Hum Mol Genet 2013 1.06
19 Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum. Hum Mutat 2011 1.03
20 Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome. Hum Mutat 2007 1.01
21 The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. Orphanet J Rare Dis 2013 0.93
22 A missense mutation within the fork-head domain of the forkhead box G1 Gene (FOXG1) affects its nuclear localization. Hum Mutat 2010 0.93
23 Floating-Harbor Syndrome: report on a case in a mother and daughter, further evidence of autosomal dominant inheritance. Clin Dysmorphol 2012 0.91
24 Spectrum of epilepsy in terminal 1p36 deletion syndrome. Epilepsia 2007 0.89
25 Evidence against haploinsuffiency of human ataxin 10 as a cause of spinocerebellar ataxia type 10. Neurogenetics 2009 0.86
26 Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature. Am J Med Genet C Semin Med Genet 2013 0.85
27 Cognitive profile in childhood myotonic dystrophy type 1: is there a global impairment? Neuromuscul Disord 2007 0.84
28 Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum. Brain Dev 2012 0.84
29 A new window on neurocognitive dysfunction in the childhood form of myotonic dystrophy type 1 (DM1). Neuromuscul Disord 2011 0.83
30 Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms. Orphanet J Rare Dis 2012 0.82
31 ZDHHC8 single nucleotide polymorphism rs175174 is not associated with psychiatric features of the 22q11 deletion syndrome or schizophrenia. Psychiatr Genet 2007 0.81
32 Mutation in the SLC9A6 gene is not a frequent cause of sporadic Angelman-like syndrome. Eur J Hum Genet 2009 0.80
33 Psychiatric and cognitive phenotype in children and adolescents with myotonic dystrophy. Eur Child Adolesc Psychiatry 2009 0.80
34 Retinal involvement in two unrelated patients with Myhre syndrome. Eur J Med Genet 2012 0.80
35 Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation. Eur J Hum Genet 2005 0.79
36 Brief report: visual-spatial deficit in a 16-year-old girl with maternally derived duplication of proximal 15q. J Autism Dev Disord 2006 0.79
37 Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature. Am J Med Genet A 2014 0.79
38 Prenatal molecular diagnosis in hypertrophic cardiomyopathy: report of the first case. Prenat Diagn 2004 0.76
39 Deletion of filamin A in two female patients with periventricular nodular heterotopia. Am J Med Genet A 2012 0.75
40 Finger creases lend a hand in Kabuki syndrome. Eur J Med Genet 2013 0.75
41 CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy. Epilepsy Res 2009 0.75
42 Creatine and guanidinoacetate reference values in a French population. Mol Genet Metab 2013 0.75