D Bornholdt

Author PubWeight™ 10.45^‹?›

Top papers

Rank	Title	Journal	Year	PubWeight™‹?›
1	Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome.	Am J Med Genet	2000	1.48
2	The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations.	Am J Hum Genet	1999	1.44
3	Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.	Hum Mol Genet	1999	1.40
4	Point mutations in human GLI3 cause Greig syndrome.	Hum Mol Genet	1997	1.29
5	Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations.	Am J Med Genet A	2003	1.02
6	Gene symbol: GLI3. Disease: Greig cephalopolysyndactyly syndrome.	Hum Genet	2003	0.84
7	CHILD syndrome caused by a deletion of exons 6-8 of the NSDHL gene.	Dermatology	2005	0.84
8	Gene symbol: GLI3. Disease: Pallister-Hall syndrome.	Hum Genet	2003	0.80
9	Gene symbol: GLI3. Disease: Pallister-Hall syndrome.	Hum Genet	2004	0.79
10	Significant association between a silent polymorphism in the neuromedin B gene and body weight in German children and adolescents.	Acta Diabetol	2000	0.78
11	[Measuring chemiluminescence in phagocytic granulocytes--simultaneously a parameter of their killing function?].	Langenbecks Arch Chir	1987	0.75
12	Identification of paralogous HERV-K LTRs on human chromosomes 3, 4, 7 and 11 in regions containing clusters of olfactory receptor genes.	Mol Genet Genomics	2001	0.75