Bert Callewaert

Author PubWeight™ 5.22^‹?›

Rank	Title	Journal	Year	PubWeight™‹?›
1	Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.	Nat Genet	2017	1.39
2	New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations.	Hum Mutat	2011	1.20
3	Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa.	Hum Mutat	2012	0.93
4	Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1.	Mol Genet Metab	2014	0.87
5	Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.	Genet Med	2016	0.79
6	Redefining the MED13L syndrome.	Eur J Hum Genet	2015	0.77
7	BATCH-GE: Batch analysis of Next-Generation Sequencing data for genome editing assessment.	Sci Rep	2016	0.77
8	Absence of cardiovascular manifestations in a haploinsufficient Tgfbr1 mouse model.	PLoS One	2014	0.75
9	Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability.	Am J Med Genet A	2017	0.75
10	Congenital contractural arachnodactyly due to a novel splice site mutation in the FBN2 gene.	J Pediatr Genet	2014	0.75
11	Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: A case report suggesting a genotype-phenotype correlation.	Am J Med Genet A	2015	0.75