M J van den Boogaard

Author PubWeight™ 18.10‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell 2001 11.99
2 Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13. Am J Hum Genet 1996 1.89
3 Deletion at chromosome 16p13.3 as a cause of Rubinstein-Taybi syndrome: clinical aspects. Am J Hum Genet 1993 1.16
4 Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3. Am J Hum Genet 1993 1.12
5 Copy number changes of the microcephalin 1 gene (MCPH1) in patients with autism spectrum disorders. Clin Genet 2009 0.97
6 Genotype-phenotype correlation in adult-onset acid maltase deficiency. Ann Neurol 1995 0.88
7 Identification of two new nucleotide mutations (HPRTUtrecht and HPRTMadrid) in exon 3 of the human hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene. Hum Genet 1993 0.82