PubRank

Raoul C Hennekam

Author PubWeight™ 68.65‹?›

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 Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat Genet 2006 10.36
3 Characterization of a recurrent 15q24 microdeletion syndrome. Hum Mol Genet 2007 3.54
4 Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet 2007 2.81
5 Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. Am J Hum Genet 2005 2.40
6 Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. Nat Genet 2012 2.34
7 Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene. Am J Hum Genet 2010 1.86
8 Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome. Proc Natl Acad Sci U S A 2008 1.78
9 Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum. Hum Mutat 2010 1.67
10 The face signature of fibrodysplasia ossificans progressiva. Am J Med Genet A 2012 1.62
11 Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. Nat Genet 2009 1.59
12 Germline melanocortin-1-receptor genotype is associated with severity of cutaneous phenotype in congenital melanocytic nevi: a role for MC1R in human fetal development. J Invest Dermatol 2012 1.56
13 Mutation update for the PORCN gene. Hum Mutat 2011 1.37
14 Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement. Nat Genet 2012 1.34
15 Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome. Am J Hum Genet 2006 1.30
16 HNF1B mutations associate with hypomagnesemia and renal magnesium wasting. J Am Soc Nephrol 2009 1.29
17 Ophthalmological aspects of Pierson syndrome. Am J Ophthalmol 2008 1.27
18 Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300. J Med Genet 2007 1.23
19 Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome. Am J Hum Genet 2010 1.18
20 Digenic inheritance of mutations in FOXC1 and PITX2 : correlating transcription factor function and Axenfeld-Rieger disease severity. Hum Mutat 2011 1.08
21 Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome. Hum Genet 2014 1.03
22 Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. J Med Genet 2011 1.02
23 Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis. Eur J Hum Genet 2012 1.01
24 Phenotype and genotype in Nicolaides-Baraitser syndrome. Am J Med Genet C Semin Med Genet 2014 1.01
25 Morphological features in children with autism spectrum disorders: a matched case-control study. J Autism Dev Disord 2011 0.95
26 Co-occurrence of severe Goltz-Gorlin syndrome and pentalogy of Cantrell - Case report and review of the literature. Am J Med Genet A 2011 0.93
27 Genotype-phenotype correlation in patients suspected of having Sotos syndrome. Horm Res 2004 0.93
28 Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia. Am J Med Genet A 2003 0.92
29 Body integrity identity disorder. PLoS One 2012 0.91
30 Further clinical and molecular delineation of the 15q24 microdeletion syndrome. J Med Genet 2011 0.91
31 The face in congenital melanocytic nevus syndrome. Am J Med Genet A 2012 0.88
32 DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. Am J Med Genet C Semin Med Genet 2014 0.88
33 Renal malformations associated with mutations of developmental genes: messages from the clinic. Pediatr Nephrol 2010 0.86
34 Etiology of non-immune hydrops fetalis: An update. Am J Med Genet A 2015 0.85
35 Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder. Am J Med Genet A 2012 0.84
36 Is there evidence for aetiologically distinct subgroups of idiopathic congenital talipes equinovarus? A case-only study and pedigree analysis. PLoS One 2011 0.82
37 RELN rare variants in myoclonus-dystonia. Mov Disord 2015 0.80
38 Intellectual disability, unusual facial morphology and hand anomalies in sibs. Am J Med Genet A 2013 0.80
39 Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: a model for the diagnosis and treatment of rare diseases in a developing country. Am J Med Genet A 2014 0.77
40 Growth charts for individuals with Rubinstein-Taybi syndrome. Am J Med Genet A 2014 0.76
41 Aplasia cutis congenita, skull defect, brain heterotopia, and intestinal lymphangiectasia. Am J Med Genet A 2005 0.75
42 Validation of a clinical screening instrument for tumour predisposition syndromes in patients with childhood cancer (TuPS): protocol for a prospective, observational, multicentre study. BMJ Open 2017 0.75
43 Macrostomia, thin upper vermilion border, long philtrum, broad halluces, and intellectual disability in two sibs. Am J Med Genet A 2011 0.75
44 Motility disorders and genetics: the future is bright. J Pediatr Gastroenterol Nutr 2011 0.75
45 Ocular pterygium--digital keloid dysplasia. Am J Med Genet A 2014 0.75
46 Mental retardation, premature balding, small genitalia, small acra and small patellae in brothers: confirmation of an entity. Eur J Med Genet 2010 0.75
47 Neuroblastoma, maternal valproic acid use, in-vitro fertilization and family history of mosaic chromosome 22: coincidence or causal relationship? Clin Dysmorphol 2004 0.75
48 Progressive extreme heterotopic calcification. Am J Med Genet A 2013 0.75
49 Focal dermal hypoplasia without focal dermal hypoplasia. Am J Med Genet A 2013 0.75