Massively Parallel Sequencing of Exons on the X Chromosome Identifies RBM10 as the Gene that Causes a Syndromic Form of Cleft Palate
- 14 May 2010
- journal article
- Published by Elsevier BV in American Journal of Human Genetics
- Vol. 86 (5), 743-748
- https://doi.org/10.1016/j.ajhg.2010.04.007
Abstract
No abstract availableKeywords
This publication has 16 references indexed in Scilit:
- Exome sequencing identifies the cause of a mendelian disorderNature Genetics, 2009
- Inactive X chromosome-specific histone H3 modifications and CpG hypomethylation flank a chromatin boundary between an X-inactivated and an escape geneNucleic Acids Research, 2009
- Mutations in Ribonucleic Acid Binding Protein Gene Cause Familial Dilated CardiomyopathyJournal of the American College of Cardiology, 2009
- Comparison of melanoblast expression patterns identifies distinct classes of genesPigment Cell & Melanoma Research, 2009
- A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardationNature Genetics, 2009
- Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencingNature Biotechnology, 2009
- Alopecia, Neurological Defects, and Endocrinopathy Syndrome Caused by Decreased Expression of RBM28, a Nucleolar Protein Associated with Ribosome BiogenesisAmerican Journal of Human Genetics, 2008
- Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 MutationsAmerican Journal of Human Genetics, 2005
- An Integrated, Functionally Annotated Gene Map of the DXS8026–ELK1 Interval on Human Xp11.3–Xp11.23: Potential Hotspot for Neurogenetic DisordersGenomics, 2002
- A Novel Gene, DXS8237E, Lies within 20 kb Upstream of UBE1 in Xp11.23 and Has a Different X Inactivation StatusGenomics, 1996