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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

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Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay. Hum Genet (2000) 1.20

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Primary, nonsyndromic vesicoureteric reflux and its nephropathy is genetically heterogeneous, with a locus on chromosome 1. Am J Hum Genet (2000) 1.18

Deletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure. J Pediatr (2000) 1.14

Rearrangement of the human CDC5L gene by a t(6;19)(p21;q13.1) in a patient with multicystic renal dysplasia. Genomics (1998) 1.12

The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies. J Med Genet (1998) 1.10

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Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis. Hum Genet (2001) 1.08

Molecular analysis of SALL1 mutations in Townes-Brocks syndrome. Am J Hum Genet (1999) 1.07

A novel MSX1 mutation in hypodontia. Am J Med Genet A (2004) 1.04

Challenges of interpreting copy number variation in syndromic and non-syndromic congenital heart defects. Cytogenet Genome Res (2011) 1.04

Regional localization of two genes for nonspecific X-linked mental retardation to Xp22.3-p22.2 (MRX49) and Xp11.3-p11.21 (MRX50). Am J Med Genet (1997) 1.04

Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations. Am J Med Genet A (2003) 1.02

Neuropsychopathology in 7 Patients with the 22q13 Deletion Syndrome: Presence of Bipolar Disorder and Progressive Loss of Skills. Mol Syndromol (2012) 1.02

Velocardiofacial syndrome patients with a heterozygous chromosome 22q11 deletion have giant platelets. Pediatr Res (1998) 1.01

Psychotic disorders in Prader-Willi syndrome. Am J Med Genet A (2004) 1.00

The incidence of a deletion in chromosome 22Q11 in sporadic and familial conotruncal heart disease. Eur J Pediatr (1996) 1.00

Severe alport phenotype in a woman with two missense mutations in the same COL4A5 gene and preponderant inactivation of the X chromosome carrying the normal allele. J Clin Invest (1995) 1.00

Transcription factor GATA3 and the human HDR syndrome. Cell Mol Life Sci (2001) 1.00

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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

Unusual molecular findings in autosomal recessive spinal muscular atrophy. J Med Genet (1996) 0.96

Multiple lipomas linked to an RB1 gene mutation in a large pedigree with low penetrance retinoblastoma. Eur J Hum Genet (2001) 0.95

IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign. Mol Syndromol (2010) 0.95

Assessment of association between variants and haplotypes of the remaining TBX1 gene and manifestations of congenital heart defects in 22q11.2 deletion patients. J Med Genet (2004) 0.94

Rapid prenatal diagnosis of trisomy 21 in 5049 consecutive uncultured amniotic fluid samples by fluorescence in situ hybridisation (FISH). Prenat Diagn (2002) 0.93

Involvement of a palindromic chromosome 22-specific low-copy repeat in a constitutional t(X; 22)(q27;q11). Clin Genet (2002) 0.93

Chromosome 15 maternal uniparental disomy and psychosis in Prader-Willi syndrome. J Med Genet (2003) 0.93

A recognisable behavioural phenotype associated with terminal deletions of the short arm of chromosome 8. Am J Med Genet (1997) 0.93

Partial DiGeorge syndrome in two patients with a 10p rearrangement. Clin Genet (1999) 0.93

Autosomal dominant microcephaly--lymphoedema-chorioretinal dysplasia syndrome. Br J Ophthalmol (2001) 0.93

Presenting symptoms and clinical features in 130 patients with the velo-cardio-facial syndrome. The Leuven experience. Genet Couns (1999) 0.92

Ring syndrome caused by ring chromosome 7 without loss of subtelomeric sequences. Clin Genet (2002) 0.92

Molecular analysis of the isochromosome 12P in the Pallister-Killian syndrome. Construction of a mouse-human hybrid cell line containing an i(12p) as the sole human chromosome. Hum Genet (1989) 0.92

Low expression VEGF haplotype increases the risk for tetralogy of Fallot: a family based association study. J Med Genet (2005) 0.92

1.4 Mb candidate gene region for X linked dyskeratosis congenita defined by combined haplotype and X chromosome inactivation analysis. J Med Genet (1998) 0.90

Cohen syndrome: the clinical symptoms and stigmata at a young age. Clin Genet (1996) 0.90

The phenotypic spectrum of the 10p deletion syndrome versus the classical DiGeorge syndrome. Genet Couns (1999) 0.90

Melorheostosis in a family with autosomal dominant osteopoikilosis: report of a third family. Am J Med Genet A (2003) 0.89

Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements. J Med Genet (2009) 0.89

Microduplication 22q11.2: a description of the clinical, developmental and behavioral characteristics during childhood. Genet Couns (2012) 0.89

Children with a 22q11 deletion versus children with a speech-language impairment and learning disability: behavior during primary school age. Genet Couns (2001) 0.88

Differences in Copy Number Variation between Discordant Monozygotic Twins as a Model for Exploring Chromosomal Mosaicism in Congenital Heart Defects. Mol Syndromol (2012) 0.88

Mathematical disabilities in children with velo-cardio-facial syndrome. Neuropsychologia (2006) 0.87

Identification of dosage-sensitive genes in fetuses referred with severe isolated congenital diaphragmatic hernia. Prenat Diagn (2013) 0.86

Molecular karyotyping of patients with MCA/MR: the blurred boundary between normal and pathogenic variation. Cytogenet Genome Res (2006) 0.86

Short Stature in KBG Syndrome: First Responses to Growth Hormone Treatment. Horm Res Paediatr (2015) 0.86

Novel syndromic form of X-linked complicated spastic paraplegia. Am J Med Genet (2000) 0.86

The communication of secondary variants: interviews with parents whose children have undergone array-CGH testing. Clin Genet (2014) 0.85

Genetic locus on chromosome 6p for multicystic renal dysplasia, pelvi-ureteral junction stenosis, and vesicoureteral reflux. Am J Med Genet (1995) 0.85

Prenatal findings in a monozygotic twin pregnancy with Costello syndrome. Prenat Diagn (2002) 0.85

ARX mutation in a boy with transsphenoidal encephalocele and hypopituitarism. Clin Genet (2004) 0.85

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Occipital Horn syndrome in a 2-year-old boy. Clin Dysmorphol (1999) 0.84

X-linked severe mental retardation and a progressive neurological disorder in a Belgian family: clinical and genetic studies. Clin Genet (1997) 0.84

Cryptic translocation t(5;18) in familial mental retardation. Ann Genet (2001) 0.84

DISC1 duplication in two brothers with autism and mild mental retardation. Clin Genet (2009) 0.84

Sporadic male patients with intellectual disability: contribution of X-chromosome copy number variants. Eur J Med Genet (2012) 0.84

The X-linked infantile spasms syndrome (MIM 308350) maps to Xp11.4-Xpter in two pedigrees. Ann Neurol (1997) 0.84

Deletion 2q37.3 and autism: molecular cytogenetic mapping of the candidate region for autistic disorder. Genet Couns (2004) 0.84

Novel PORCN mutations in focal dermal hypoplasia. Clin Genet (2009) 0.84

Structure, sequence, and chromosome 19 localization of human USF2 and its rearrangement in a patient with multicystic renal dysplasia. Genomics (1996) 0.83

Unconventional intronic splice site mutation in SCN5A associates with cardiac sodium channelopathy. J Med Genet (2005) 0.83

Scalp skin lesion in Turner syndrome: more than lymphoedema? Clin Dysmorphol (2005) 0.82

Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD). Eur J Med Genet (2005) 0.82

PALML, a novel paralemmin-related gene mapping on human chromosome 1p21. Gene (2001) 0.82

Molecular cytogenetic characterization of a constitutional complex intrachromosomal 4q rearrangement in a patient with multiple congenital anomalies. Cytogenet Genome Res (2006) 0.82

MURCS association with duplicated thumb. Clin Genet (2002) 0.82

Spectrum of temporal bone abnormalities in patients with Waardenburg syndrome and SOX10 mutations. AJNR Am J Neuroradiol (2012) 0.82

Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene. Clin Genet (2011) 0.81

Retrospective analysis of feeding and speech disorders in 50 patients with velo-cardio-facial syndrome. Genet Couns (1999) 0.81

Aetiology of congenital hearing loss: a cohort review of 569 subjects. Int J Pediatr Otorhinolaryngol (2013) 0.81

Investigating the etiology of multiple tooth agenesis in three sisters with severe oligodontia. Orthod Craniofac Res (2008) 0.81

Prenatal diagnosis of partial trisomy 3p(3p23-->pter) and monosomy 7q(7q36-->qter) in a fetus with microcephaly alobar holoprosencephaly and cyclopia. Prenat Diagn (1999) 0.81

Structure of the human alpha-2 macroglobulin gene and its promotor. Biochem Biophys Res Commun (1992) 0.81

Familial deletions of chromosome 22q11: the Leuven experience. Am J Med Genet (1998) 0.81

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