PubRank

Koen Devriendt

Author PubWeight™ 114.11‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med 2008 10.88
2 De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nat Genet 2010 5.72
3 Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr 2011 2.57
4 Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients. Eur Heart J 2007 2.39
5 Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). Am J Hum Genet 2007 2.22
6 Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis. J Histochem Cytochem 2005 2.05
7 Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. Genome Res 2002 1.91
8 Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes. Nat Genet 2007 1.85
9 Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes. Hum Mutat 2007 1.79
10 VEGF: a modifier of the del22q11 (DiGeorge) syndrome? Nat Med 2003 1.79
11 Human laterality disorders. Eur J Med Genet 2006 1.74
12 FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation. Am J Hum Genet 2003 1.70
13 Guidelines for molecular karyotyping in constitutional genetic diagnosis. Eur J Hum Genet 2007 1.56
14 Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Am J Hum Genet 2011 1.55
15 Clinical and mutational spectrum of Mowat-Wilson syndrome. Eur J Med Genet 2005 1.46
16 Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice. J Clin Invest 2009 1.40
17 Pulmonary atresia/ventricular septal defect associated with facial port-wine stain and retinal vascular abnormality: a new constellation or deletion in chromosome 22q11.2? Am J Med Genet A 2005 1.38
18 SCAMP5, NBEA and AMISYN: three candidate genes for autism involved in secretion of large dense-core vesicles. Hum Mol Genet 2010 1.38
19 Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis. Hum Mol Genet 2005 1.37
20 Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16. Nat Genet 2013 1.23
21 Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome. Eur J Hum Genet 2011 1.20
22 Predictive testing for hereditary nonpolyposis colorectal cancer: subjective perception regarding colorectal and endometrial cancer, distress, and health-related behavior at one year post-test. Genet Test 2005 1.19
23 Early motor development in young children with 22q.11 deletion syndrome and a conotruncal heart defect. Dev Med Child Neurol 2005 1.17
24 Minimum prevalence, birth incidence and cause of death for Prader-Willi syndrome in Flanders. Eur J Hum Genet 2004 1.16
25 Fetal surgery is a clinical reality. Semin Fetal Neonatal Med 2009 1.15
26 Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis. Hum Mutat 2007 1.13
27 GATA-3 in human T cell helper type 2 development. J Exp Med 2004 1.09
28 Subtelomeric imbalances in phenotypically normal individuals. Hum Mutat 2007 1.07
29 Mutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutation. Hum Mutat 2008 1.07
30 Narrowing the critical deletion region for autism spectrum disorders on 16p11.2. Am J Med Genet B Neuropsychiatr Genet 2011 1.06
31 Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21.3 as novel candidate genes for autism. Eur J Hum Genet 2007 1.06
32 Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients. Hum Mutat 2011 1.05
33 Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot. Hum Mol Genet 2013 1.04
34 Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations. Am J Med Genet A 2005 1.04
35 Haploinsufficiency of TAB2 causes congenital heart defects in humans. Am J Hum Genet 2010 1.04
36 Novel TBX5 mutations in patients with Holt-Oram syndrome. Clin Orthop Relat Res 2007 1.04
37 Pierpont syndrome: a collaborative study. Am J Med Genet A 2011 1.03
38 Progressive AV-block and anomalous venous return among cardiac anomalies associated with two novel missense mutations in the CSX/NKX2-5 gene. Hum Mutat 2002 1.02
39 Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. J Med Genet 2011 1.02
40 Novel mutation in the Per-Arnt-Sim domain of KCNH2 causes a malignant form of long-QT syndrome. Circulation 2005 1.00
41 Chromosome 10p deletion in a patient with hypoparathyroidism, severe mental retardation, autism and basal ganglia calcifications. Ann Genet 2004 0.99
42 Novel pore mutation in SCN5A manifests as a spectrum of phenotypes ranging from atrial flutter, conduction disease, and Brugada syndrome to sudden cardiac death. Heart Rhythm 2004 0.99
43 Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome. Hum Genet 2003 0.96
44 Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes. Am J Hum Genet 2013 0.96
45 Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4. Eur J Hum Genet 2008 0.94
46 Genomic rearrangements of the GREM1-FMN1 locus cause oligosyndactyly, radio-ulnar synostosis, hearing loss, renal defects syndrome and Cenani--Lenz-like non-syndromic oligosyndactyly. J Med Genet 2010 0.93
47 Left-ventricular non-compaction in a patient with monosomy 1p36. Eur J Med Genet 2007 0.92
48 Improved molecular diagnostics of idiopathic short stature and allied disorders: quantitative polymerase chain reaction-based copy number profiling of SHOX and pseudoautosomal region 1. J Clin Endocrinol Metab 2010 0.90
49 Haploinsufficiency of the autism candidate gene Neurobeachin induces autism-like behaviors and affects cellular and molecular processes of synaptic plasticity in mice. Neurobiol Dis 2012 0.90
50 Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1. Hum Mol Genet 2012 0.89
51 Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: clinical study and mutation analysis of the NXF5 gene. Am J Med Genet A 2003 0.89
52 Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations. Genes Chromosomes Cancer 2010 0.89
53 Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction. PLoS One 2012 0.89
54 Motor development in school-aged children with 22q11 deletion (velocardiofacial/DiGeorge syndrome). Dev Med Child Neurol 2007 0.88
55 Chromosomal anomalies in individuals with autism: a strategy towards the identification of genes involved in autism. Autism 2004 0.88
56 Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome. J Med Genet 2009 0.88
57 Position effect leading to haploinsufficiency in a mosaic ring chromosome 14 in a boy with autism. Eur J Hum Genet 2008 0.88
58 A new approach to imprinting mutation detection in GNAS by Sequenom EpiTYPER system. Clin Chim Acta 2010 0.88
59 A novel CSX/NKX2-5 mutation causes autosomal-dominant AV block: are atrial fibrillation and syncopes part of the phenotype? Eur J Hum Genet 2006 0.87
60 Haploinsufficiency of the gene Quaking (QKI) is associated with the 6q terminal deletion syndrome. Am J Med Genet A 2010 0.85
61 What's new in karyotyping? The move towards array comparative genomic hybridisation (CGH). Eur J Pediatr 2007 0.84
62 2q31.1 microdeletion syndrome: redefining the associated clinical phenotype. J Med Genet 2010 0.84
63 The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability. Hum Genet 2013 0.83
64 Variability in expression of a familial 2.79 Mb microdeletion in chromosome 14q22.1-22.2. Am J Med Genet A 2012 0.83
65 NPHP4 variants are associated with pleiotropic heart malformations. Circ Res 2012 0.83
66 Partial duplications of the ATRX gene cause the ATR-X syndrome. Eur J Hum Genet 2007 0.83
67 Tight skin and limited joint movements as early presentation of Hutchinson-Gilford progeria in a 7-week-old infant. Eur J Pediatr 2005 0.82
68 Carpal and tarsal synostoses and transverse reduction defects of the toes in two brothers heterozygous for a double de novo NOGGIN mutation. Am J Med Genet A 2005 0.82
69 Early detection of chromosome 9q22.32q31.1 microdeletion and the nevoid basal cell carcinoma syndrome. Eur J Med Genet 2009 0.82
70 Association between C677T polymorphism of methylene tetrahydrofolate reductase and congenital heart disease: meta-analysis of 7697 cases and 13,125 controls. Circ Cardiovasc Genet 2013 0.82
71 Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16. Am J Hum Genet 2008 0.81
72 Glypican 1 gene: good candidate for brachydactyly type E. Am J Med Genet 2002 0.81
73 The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome? Am J Med Genet A 2013 0.81
74 Clinical utility gene card for: DiGeorge syndrome, velocardiofacial syndrome, Shprintzen syndrome, chromosome 22q11.2 deletion syndrome (22q11.2, TBX1). Eur J Hum Genet 2010 0.79
75 Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients. Am J Med Genet A 2012 0.79
76 MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients. Brain Dev 2006 0.79
77 A complex Xp11.22 deletion in a patient with syndromic autism: exploration of FAM120C as a positional candidate gene for autism. Am J Med Genet A 2014 0.79
78 A complex submicroscopic chromosomal imbalance in 19p13.11 with one microduplication and two microtriplications. Eur J Med Genet 2008 0.78
79 Progressive late-onset sensorineural hearing loss and vestibular impairment with vertigo (DFNA9/COCH): longitudinal analyses in a belgian family. Otol Neurotol 2003 0.78
80 Human piebaldism: six novel mutations of the proto-oncogene KIT. Hum Mutat 2002 0.78
81 Circumferential skin creases, cleft palate, typical face, intellectual disability and growth delay: "circumferential skin creases Kunze type". Eur J Med Genet 2011 0.78
82 Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity. Hum Mutat 2012 0.78
83 Sesn1 is a novel gene for left-right asymmetry and mediating nodal signaling. Hum Mol Genet 2006 0.77
84 Multiple circumferential skin creases: another sign of genetic mosaicism? Am J Med Genet A 2004 0.77
85 VATER--tibia aplasia association: report on two patients. Clin Dysmorphol 2002 0.77
86 Focal preauricular dermal dysplasia: distinctive congenital lesions with a bilateral and symmetric distribution. Eur J Med Genet 2005 0.77
87 Refining the locus of branchio-otic syndrome 2 (BOS2) to a 5.25 Mb locus on chromosome 1q31.3q32.1. Eur J Med Genet 2009 0.77
88 Atypical neuropsychological profile in a boy with 22q11.2 Deletion Syndrome. Child Neuropsychol 2005 0.76
89 Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12. Eur J Hum Genet 2013 0.76
90 A microduplication of CBP in a patient with mental retardation and a congenital heart defect. Am J Med Genet A 2007 0.76
91 Hydrops fetalis and pulmonary lymphangiectasia due to FOXC2 mutation: an autosomal dominant hereditary lymphedema syndrome with variable expression. Eur J Pediatr 2011 0.76
92 From the set-up of a screening program of breast cancer patients to the identification of the first BRCA mutation in the DR Congo. BMC Public Health 2014 0.76
93 The spectrum of hand and foot malformations in patients with Greig cephalopolysyndactyly. J Child Orthop 2007 0.75
94 Somatic mosaicism and variable expression of Townes-Brocks syndrome. Am J Med Genet 2002 0.75
95 Association of CDH11 with non-syndromic ASD. Am J Med Genet B Neuropsychiatr Genet 2014 0.75
96 Diagnostic evaluation for asymmetry: consider genetic mosaicism. Eur J Pediatr 2004 0.75
97 Congenital anterolateral bowing of the tibia with ipsilateral polydactyly of the great toe associated with cerebral cyst: a new entity? Clin Dysmorphol 2009 0.75
98 Iris heterochromia: a variable feature in Verloes-Koulischer-oral-acral syndrome. Am J Med Genet A 2005 0.75
99 Atypical presentation of the Prader-Willi syndrome. Mosaic trisomy 15? Ann Genet 2002 0.75
100 Triangular face and vascular malformation. The links to renal failure. Nephrol Dial Transplant 2003 0.75
101 Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans. Am J Hum Genet 2016 0.75
102 Mosaic trisomy 8 as a cause of velopharyngeal insufficiency. Am J Med Genet 2002 0.75
103 Two female siblings with congenital heart disease, postaxial polydactyly, ectopic neuropituitary gland, hair anomalies and characteristic facial features: a new syndrome? Clin Dysmorphol 2006 0.75
104 Anterior cervical hypertrichosis and mental retardation. Clin Dysmorphol 2006 0.75