Molecular analyses of novelASAH1mutations causing Farber lipogranulomatosis: analyses of exonic splicing enhancer inactivating mutation

Molecular basis of acid ceramidase deficiency in a neonatal form of Farber disease: Identification of the first large deletion in ASAH1 gene

(2013) Mariana Q. Alves et al.   MOLECULAR GENETICS AND METABOLISM

Molecular genetic analysis of MSUD from India reveals mutations causing altered protein truncation affecting the C-termini of E1α and E1β

(2012) Murali D. Bashyam et al.   JOURNAL OF CELLULAR BIOCHEMISTRY

Multiple sequence variants ofBRCA2exon 7 alter splicing regulation

(2012) Pascaline Gaildrat et al.   JOURNAL OF MEDICAL GENETICS

A founder ectodysplasin A receptor (EDAR) mutation results in a high frequency of the autosomal recessive form of hypohidrotic ectodermal dysplasia in India

(2011) M.D. Bashyam et al.   BRITISH JOURNAL OF DERMATOLOGY

Loss of exon identity is a common mechanism of human inherited disease

(2011) T. Sterne-Weiler et al.   GENOME RESEARCH

Hansa: An automated method for discriminating disease and neutral human nsSNPs

(2011) Vishal Acharya et al.   HUMAN MUTATION

A low prevalence of MYH7/MYBPC3 mutations among Familial Hypertrophic Cardiomyopathy patients in India

(2011) Murali D. Bashyam et al.   MOLECULAR AND CELLULAR BIOCHEMISTRY

A large fraction of unclassified variants of the mismatch repair genesMLH1andMSH2is associated with splicing defects

(2008) Isabelle Tournier et al.   HUMAN MUTATION

Autoproteolytic Cleavage and Activation of Human Acid Ceramidase

(2008) Nataly Shtraizent et al.   JOURNAL OF BIOLOGICAL CHEMISTRY