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4 in total

1. Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies.

Authors: Chengliang Dong; Peng Wei; Xueqiu Jian; Richard Gibbs; Eric Boerwinkle; Kai Wang; Xiaoming Liu
Journal: Hum Mol Genet Date: 2014-12-30 Impact factor: 6.150

2. Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity.

Authors: Qiuping Zhang; Cornelia Bethmann; Nathalie F Worth; John D Davies; Christina Wasner; Anja Feuer; Cassandra D Ragnauth; Qijian Yi; Jason A Mellad; Derek T Warren; Matthew A Wheeler; Juliet A Ellis; Jeremy N Skepper; Matthias Vorgerd; Beate Schlotter-Weigel; Peter L Weissberg; Roland G Roberts; Manfred Wehnert; Catherine M Shanahan
Journal: Hum Mol Genet Date: 2007-08-29 Impact factor: 6.150

3. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors: Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal: Genet Med Date: 2015-03-05 Impact factor: 8.822

4. Large-scale modelling of the divergent spectrin repeats in nesprins: giant modular proteins.

Authors: Flavia Autore; Mark Pfuhl; Xueping Quan; Aisling Williams; Roland G Roberts; Catherine M Shanahan; Franca Fraternali
Journal: PLoS One Date: 2013-05-06 Impact factor: 3.240

4 in total