PubRank

H Van Esch

Author PubWeight™ 28.95‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients. J Med Genet 2007 2.21
2 Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate. J Med Genet 2005 1.78
3 Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome. J Med Genet 2005 1.60
4 Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations. J Med Genet 2008 1.31
5 A balanced translocation t(6;14)(q25.3;q13.2) leading to reciprocal fusion transcripts in a patient with intellectual disability and agenesis of corpus callosum. Cytogenet Genome Res 2010 1.31
6 Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome. Clin Genet 2006 1.12
7 Array painting using microdissected chromosomes to map chromosomal breakpoints. Cytogenet Genome Res 2007 1.11
8 Refining the phenotype associated with MEF2C haploinsufficiency. Clin Genet 2010 1.09
9 Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism. Mol Psychiatry 2009 1.08
10 An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14. J Med Genet 2000 1.03
11 Neuropsychopathology in 7 Patients with the 22q13 Deletion Syndrome: Presence of Bipolar Disorder and Progressive Loss of Skills. Mol Syndromol 2012 1.02
12 Haploinsufficiency of the HOXA gene cluster, in a patient with hand-foot-genital syndrome, velopharyngeal insufficiency, and persistent patent Ductus botalli. Am J Hum Genet 1999 0.97
13 Phenotype and genotype in 101 males with X-linked creatine transporter deficiency. J Med Genet 2013 0.96
14 The phenotypic spectrum of the 10p deletion syndrome versus the classical DiGeorge syndrome. Genet Couns 1999 0.90
15 Microduplication 22q11.2: a description of the clinical, developmental and behavioral characteristics during childhood. Genet Couns 2012 0.89
16 Rare polymorphic variants of the AGTR2 gene in boys with non-specific mental retardation. J Med Genet 2003 0.89
17 Vesico-ureteral reflux: a genetic condition? Eur J Pediatr 1998 0.87
18 Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient. J Med Genet 2005 0.86
19 The communication of secondary variants: interviews with parents whose children have undergone array-CGH testing. Clin Genet 2014 0.85
20 ARX mutation in a boy with transsphenoidal encephalocele and hypopituitarism. Clin Genet 2004 0.85
21 Detection and validation of copy number variation in X-linked mental retardation. Cytogenet Genome Res 2009 0.84
22 Sporadic male patients with intellectual disability: contribution of X-chromosome copy number variants. Eur J Med Genet 2012 0.84
23 Novel PORCN mutations in focal dermal hypoplasia. Clin Genet 2009 0.84
24 Acanthosis nigricans in a boy with achondroplasia due to the classical Gly380Arg mutation in FGFR3. Genet Couns 2004 0.83
25 Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD). Eur J Med Genet 2005 0.82
26 GATA3 and kidney development: why case reports are still important. Nephrol Dial Transplant 2001 0.81
27 Severe visual impairment and retinal changes in a boy with a deletion of the gene for Nance-Horan syndrome. Bull Soc Belge Ophtalmol 2007 0.77
28 Recurrent involvement of chromosomal region 6q21 in heterotaxy. Am J Med Genet 2001 0.75
29 Detection of an unusual 17p13.3 microdeletion by array comparative genomic hybridisation in a patient with lissencephaly. Clin Genet 2006 0.75
30 Mutations located in exon 24 of the CFTR gene are associated with a mild cystic fibrosis phenotype. Clin Genet 2003 0.75