PubRank

Frits A Beemer

Author PubWeight™ 38.36‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 The 22q11.2 deletion in children: high rate of autistic disorders and early onset of psychotic symptoms. J Am Acad Child Adolesc Psychiatry 2006 3.86
2 tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nat Genet 2008 2.28
3 Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors. Hum Mol Genet 2005 2.06
4 Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome). Nat Genet 2005 2.04
5 Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. Hum Mol Genet 2004 1.94
6 Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndrome. Eur J Hum Genet 2007 1.83
7 Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients. Eur J Hum Genet 2010 1.27
8 Deficient knowledge of genetics relevant for daily practice among medical students nearing graduation. Genet Med 2005 1.25
9 Gene-network analysis identifies susceptibility genes related to glycobiology in autism. PLoS One 2009 1.23
10 Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autism. Neurogenetics 2011 1.21
11 Initial cancer genetic counseling consultation: change in counselees' cognitions and anxiety, and association with addressing their needs and preferences. Am J Med Genet A 2005 1.16
12 Cognitive development in children with 22q11.2 deletion syndrome. Br J Psychiatry 2012 1.08
13 Association of the PIK4CA schizophrenia-susceptibility gene in adults with the 22q11.2 deletion syndrome. Am J Med Genet B Neuropsychiatr Genet 2009 1.02
14 Proline affects brain function in 22q11DS children with the low activity COMT 158 allele. Neuropsychopharmacology 2008 1.01
15 Cancer genetic counseling: communication and counselees' post-visit satisfaction, cognitions, anxiety, and needs fulfillment. J Genet Couns 2007 0.99
16 Morphological features in children with autism spectrum disorders: a matched case-control study. J Autism Dev Disord 2011 0.95
17 Pediatric generalized joint hypermobility with and without musculoskeletal complaints: a localized or systemic disorder? Pediatrics 2003 0.93
18 Genotype-phenotype correlation in patients suspected of having Sotos syndrome. Horm Res 2004 0.93
19 Infant mortality, ethnicity, and genetically determined disorders in The Netherlands. Eur J Public Health 2005 0.91
20 Tailoring communication in cancer genetic counseling through individual video-supported feedback: a controlled pretest-posttest design. Patient Educ Couns 2005 0.88
21 Occurrence of deletion of a COL2A1 allele as the mutation in Stickler syndrome shows that a collagen type II dosage effect underlies this syndrome. Hum Mutat 2002 0.87
22 An investigation of the relationship between associated congenital malformations and the mental and psychomotor development of children with clefts. Cleft Palate Craniofac J 2003 0.87
23 Identification of a novel SCA locus ( SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21. Hum Genet 2002 0.85
24 Genetics education for non-genetic health care professionals in the Netherlands (2002). Community Genet 2006 0.83
25 Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome. Am J Med Genet A 2003 0.82
26 Proportional growth failure and oculocutaneous albinism in a girl with a 6.87 Mb deletion of region 15q26.2-->qter. Eur J Med Genet 2007 0.82
27 Cognitive and behavioral trajectories in 22q11DS from childhood into adolescence: a prospective 6-year follow-up study. Res Dev Disabil 2013 0.79
28 Risk factors for visual-motor integration and intelligence in children with craniofacial anomalies. J Craniofac Surg 2005 0.79
29 A novel 6.14 Mb duplication of chromosome 8p21 in a patient with autism and self mutilation. J Autism Dev Disord 2008 0.78
30 Glycerol kinase deficiency: residual activity explained by reduced transcription and enzyme conformation. Eur J Hum Genet 2004 0.78
31 A candidate gene approach to identify modifiers of the palatal phenotype in 22q11.2 deletion syndrome patients. Int J Pediatr Otorhinolaryngol 2012 0.77
32 Knee radiography in the diagnosis of skeletal dysplasias. Pediatr Radiol 2005 0.76
33 Cerebral, cerebellar, and colobomatous anomalies in three related males: Sex-linked inheritance in a newly recognized syndrome with features overlapping with Joubert syndrome. Am J Med Genet A 2005 0.76
34 Successful carnitine therapy for Raynaud's phenomenon in velo-cardio-facial syndrome. Am J Med Genet A 2003 0.75
35 Condition variables in children with craniofacial anomalies: a descriptive study. J Craniofac Surg 2004 0.75