Bernhard Steiner

Author PubWeight™ 13.33^‹?›

Top papers

Rank	Title	Journal	Year	PubWeight™‹?›
1	Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.	Hum Mutat	2010	1.88
2	Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome.	Am J Hum Genet	2012	1.21
3	Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations.	Nat Genet	2008	0.98
4	Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15.	Genome Res	2010	0.97
5	The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function.	BMC Med Genet	2010	0.93
6	Methods for RNA extraction, cDNA preparation and analysis of CFTR transcripts.	J Cyst Fibros	2004	0.89
7	Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency.	Eur J Hum Genet	2010	0.87
8	Rapid identification of female carriers of DMD/BMD by quantitative real-time PCR.	Hum Mutat	2004	0.86
9	Quantitative methods for the analysis of CFTR transcripts/splicing variants.	J Cyst Fibros	2004	0.86
10	Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements: description in a boy with partial trisomy 10q and monosomy 4q and review of the literature.	Eur J Med Genet	2008	0.82
11	Gender modulates the expression of calcium-regulating proteins in pediatric atrial myocardium.	Exp Biol Med (Maywood)	2005	0.80
12	Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap.	Eur J Hum Genet	2009	0.79
13	The CFTR frameshift mutation 3905insT and its effect at transcript and protein level.	Eur J Hum Genet	2009	0.77
14	The male phenotype in osteopathia striata congenita with cranial sclerosis.	Am J Med Genet A	2011	0.76
15	Analysis of genomic CFTR DNA.	J Cyst Fibros	2004	0.75