PubRank

J-P Fryns

Author PubWeight™ 45.66‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports. J Med Genet 2006 3.70
2 Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant. J Med Genet 2008 3.35
3 PTPN11 mutations in LEOPARD syndrome. J Med Genet 2002 1.91
4 Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate. J Med Genet 2005 1.78
5 Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome. Kidney Int 2006 1.65
6 Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome. J Med Genet 2005 1.60
7 The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients. Eur J Med Genet 2005 1.43
8 Intellectual abilities in a large sample of children with Velo-Cardio-Facial Syndrome: an update. J Intellect Disabil Res 2007 1.37
9 Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation. J Med Genet 2004 1.35
10 Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH). J Med Genet 2007 1.32
11 The neurobeachin gene is disrupted by a translocation in a patient with idiopathic autism. J Med Genet 2003 1.19
12 Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13. J Med Genet 2002 1.03
13 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
14 A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients. J Med Genet 2003 0.98
15 Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome. Hum Mutat 2009 0.96
16 Involvement of a palindromic chromosome 22-specific low-copy repeat in a constitutional t(X; 22)(q27;q11). Clin Genet 2002 0.93
17 Chromosome 15 maternal uniparental disomy and psychosis in Prader-Willi syndrome. J Med Genet 2003 0.93
18 Ring syndrome caused by ring chromosome 7 without loss of subtelomeric sequences. Clin Genet 2002 0.92
19 X-linked mental retardation: vanishing boundaries between non-specific (MRX) and syndromic (MRXS) forms. Clin Genet 2002 0.91
20 17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction. J Med Genet 2009 0.91
21 Melorheostosis in a family with autosomal dominant osteopoikilosis: report of a third family. Am J Med Genet A 2003 0.89
22 The facial dysmorphy in the newly recognised microdeletion 2p15-p16.1 refined to a 570 kb region in 2p15. J Med Genet 2008 0.89
23 Mosaicism del(8p)/inv dup(8p) in a dysmorphic female infant: a mosaic formed by a meiotic error at the 8p OR gene and an independent terminal deletion event. J Med Genet 2003 0.89
24 Molecular karyotyping of patients with MCA/MR: the blurred boundary between normal and pathogenic variation. Cytogenet Genome Res 2006 0.86
25 Holoprosencephaly and ZIC2 microdeletions: novel clinical and epidemiological specificities delineated. Clin Genet 2011 0.85
26 ARX mutation in a boy with transsphenoidal encephalocele and hypopituitarism. Clin Genet 2004 0.85
27 Novel PORCN mutations in focal dermal hypoplasia. Clin Genet 2009 0.84
28 DISC1 duplication in two brothers with autism and mild mental retardation. Clin Genet 2009 0.84
29 Molecular cytogenetic characterization of a constitutional complex intrachromosomal 4q rearrangement in a patient with multiple congenital anomalies. Cytogenet Genome Res 2006 0.82
30 Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD). Eur J Med Genet 2005 0.82
31 MURCS association with duplicated thumb. Clin Genet 2002 0.82
32 A novel NOG mutation Pro37Arg in a family with tarsal and carpal synostoses. Am J Med Genet A 2004 0.80
33 Personality profiles of children and adolescents with neurofibromatosis type 1. Am J Med Genet A 2003 0.78
34 Human homologues of Osr1 and Osr2 are not involved in a syndrome with distal limb deficiencies, oral abnormalities, and renal defects. Am J Med Genet 2002 0.78
35 Physical and psychomotor development of 1799 children born after second trimester amniocentesis for maternal serum positive triple test screening and normal prenatal karyotype. J Med Genet 2002 0.77
36 Mosaicism for duplication 12q (12q13-->12q21.2) accompanied by a pericentric inversion in a dysmorphic female infant. J Med Genet 2002 0.76
37 Oculocerebral hypopigmentation syndrome maps to chromosome 3q27.1q29. Dermatology 2012 0.76
38 Sporadic case of bilateral fusion of metacarpal 4 and 5. Am J Med Genet A 2004 0.76
39 Detection of an unusual 17p13.3 microdeletion by array comparative genomic hybridisation in a patient with lissencephaly. Clin Genet 2006 0.75
40 FOXD1 Duplication Causes Branchial Defects and Interacts with the TFAP2A Gene Implicated in the Branchio-Oculo-Facial Syndrome in Causing Eye Effects in Zebrafish. Mol Syndromol 2011 0.75
41 Acro-osteolysis and symphalangism mutations. J Bone Miner Res 2005 0.75
42 Re: First-trimester features of Fowler syndrome (hydrocephaly-hydranencephaly proliferative vasculopathy). Ultrasound Obstet Gynecol 2003 0.75
43 Prenatal diagnosis of schizencephaly after inhalation of organic solvents. Ultrasound Obstet Gynecol 2007 0.75
44 Early onset asymmetrical intrauterine growth retardation with fetal hypokinesia and variable expression of acral and genitourinary malformations: a new lethal MCA syndrome. J Med Genet 2003 0.75
45 De novo interstitial tandem duplication of chromosome 20p12.1p13. Am J Med Genet A 2003 0.75
46 Fetal hydrometrocolpos, uterus didelphys with low vaginal and anal atresia: difficulties in differentiation from a complex cloacal malformation: a case report. Genet Couns 2012 0.75
47 Symmetrical tetraphocomelia without associated congenital malformations: a nosological dilemma. Am J Med Genet 2002 0.75
48 Autosomal dominant isolated velopharyngeal insufficiency. Clin Genet 2002 0.75
49 Apparently new autosomal dominant Spondyloepimetaphyseal dysplasia: gonadal mosaicism onset. Clin Dysmorphol 2002 0.75