Susanne Morlot

Author PubWeight™ 14.40^‹?›

Top papers

Rank	Title	Journal	Year	PubWeight™‹?›
1	Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.	J Med Genet	2006	1.79
2	Novel mutations in the gene encoding secreted lymphocyte antigen-6/urokinase-type plasminogen activator receptor-related protein-1 (SLURP-1) and description of five ancestral haplotypes in patients with Mal de Meleda.	J Invest Dermatol	2003	1.53
3	DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS.	Hum Genet	2005	1.16
4	Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.	Hum Mutat	2010	1.00
5	Fanconi's anemia and clinical radiosensitivity report on two adult patients with locally advanced solid tumors treated by radiotherapy.	Strahlenther Onkol	2003	0.98
6	Sex chromosomal mosaicism in the gonads of patients with gonadal dysgenesis, but normal female or male karyotypes in lymphocytes.	Am J Obstet Gynecol	2004	0.96
7	Characterization of breakpoint sequences of five rearrangements in L1CAM and ABCD1 (ALD) genes.	Hum Mutat	2002	0.93
8	Monozygotic twins discordant for neurofibromatosis type 1 due to a postzygotic NF1 gene mutation.	Hum Mutat	2011	0.91
9	Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation.	Hum Mol Genet	2009	0.90
10	8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families.	Mol Cytogenet	2010	0.90
11	A new multicolor fluorescence in situ hybridization probe set directed against human heterochromatin: HCM-FISH.	J Histochem Cytochem	2012	0.89
12	Consider family history.	Dtsch Arztebl Int	2014	0.88
13	Double heterozygosity for mutations in BRCA1 and BRCA2 in German breast cancer patients: implications on test strategies and clinical management.	Breast Cancer Res Treat	2012	0.82
14	Novel CHD7 mutations contributing to the mutation spectrum in patients with CHARGE syndrome.	Eur J Med Genet	2010	0.81
15	Premature ovarian failure caused by a heterozygous missense mutation in POF1B and a reciprocal translocation 46,X,t(X;3)(q21.1;q21.3).	Sex Dev	2015	0.81