G Van Buggenhout

Author PubWeight™ 17.72^‹?›

Top papers

Rank	Title	Journal	Year	PubWeight™‹?›
1	Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome.	Cell	1999	4.87
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	A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation.	Nat Genet	1999	1.68
4	Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map.	J Med Genet	2004	1.55
5	Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH).	J Med Genet	2007	1.32
6	Structural chromosome rearrangements in couples with recurrent fetal wastage.	Eur J Obstet Gynecol Reprod Biol	1998	1.13
7	Neuropsychopathology in 7 Patients with the 22q13 Deletion Syndrome: Presence of Bipolar Disorder and Progressive Loss of Skills.	Mol Syndromol	2012	1.02
8	The t(4;8) is mediated by homologous recombination between olfactory receptor gene clusters, but other 4p16 translocations occur at random.	Genet Couns	2007	0.98
9	Microduplication 22q11.2: a description of the clinical, developmental and behavioral characteristics during childhood.	Genet Couns	2012	0.89
10	Chromosome healing of constitutional chromosome deletions studied by microdissection.	Cytogenet Cell Genet	1998	0.87
11	4q35 deletion and 10p15 duplication associated with immunodeficiency.	Am J Med Genet A	2006	0.78
12	Prenatal diagnosis of de novo distal 5q duplication associated with hygroma colli, fetal oedema and complex cardiopathy.	Prenat Diagn	1998	0.75
13	Pericentric inversion with partial 7(q35-->qter) duplication and 7pter deletion: diagnosis by cytogenetic and fish analysis in a 29-year-old male patient.	Genet Couns	2002	0.75
14	Zygodactyly as the most striking physical anomaly in an adult male patient with pure partial trisomy 1q.	Ann Genet	1998	0.75