Exome Sequencing and Functional Analysis Identifies BANF1 Mutation as the Cause of a Hereditary Progeroid Syndrome
Open Access
- 5 May 2011
- journal article
- research article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 88 (5), 650-656
- https://doi.org/10.1016/j.ajhg.2011.04.010
Abstract
No abstract availableKeywords
This publication has 36 references indexed in Scilit:
- Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis ImperfectaAmerican Journal of Human Genetics, 2011
- Whole Exome Sequencing and Homozygosity Mapping Identify Mutation in the Cell Polarity Protein GPSM2 as the Cause of Nonsyndromic Hearing Loss DFNB82American Journal of Human Genetics, 2010
- Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth NeuropathyNew England Journal of Medicine, 2010
- Exome sequencing identifies the cause of a mendelian disorderNature Genetics, 2009
- Targeted capture and massively parallel sequencing of 12 human exomesNature, 2009
- Fast and accurate short read alignment with Burrows–Wheeler transformBioinformatics, 2009
- A farnesyltransferase inhibitor prevents both the onset and late progression of cardiovascular disease in a progeria mouse modelProceedings of the National Academy of Sciences, 2008
- Puzzles, promises and a cure for ageingNature, 2008
- Nuclear envelope defects cause stem cell dysfunction in premature-aging miceThe Journal of cell biology, 2008
- Phenotype and Course of Hutchinson–Gilford Progeria SyndromeNew England Journal of Medicine, 2008