Identification of ASAH1 as a susceptibility gene for familial keloids

Altered lipid metabolism in the aging kidney identified by three layered omic analysis

(2016) Fabian Braun et al.   Aging-US

Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2

(2016) Regie Lyn P. Santos-Cortez et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Atypical presentation of infantile-onset farber disease with novelASAH1mutations

(2016) Soo Yeon Kim et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Acid ceramidase and the treatment of ceramide diseases: The expanding role of enzyme replacement therapy

(2016) Edward H. Schuchman   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs

(2016) Xiaoming Liu et al.   HUMAN MUTATION

Clinical and epidemiological analysis of keloids in Chinese patients

(2014) Wen-sheng Lu et al.   ARCHIVES OF DERMATOLOGICAL RESEARCH

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

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

(2013) M.D. Bashyam et al.   CLINICAL GENETICS

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

Association Study Confirmed Susceptibility Loci with Keloid in the Chinese Han Population

(2013) Fei Zhu et al.   PLoS One

Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy Is Caused by Mutations in ASAH1

(2012) Jie Zhou et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models

(2012) Hashem A. Shihab et al.   HUMAN MUTATION

Predicting the Functional Effect of Amino Acid Substitutions and Indels

(2012) Yongwook Choi et al.   PLoS One

Predicting the functional impact of protein mutations: application to cancer genomics

(2011) Boris Reva et al.   NUCLEIC ACIDS RESEARCH

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

A genome-wide association study identifies four susceptibility loci for keloid in the Japanese population

(2010) Mitsuko Nakashima et al.   NATURE GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Identification of deleterious mutations within three human genomes

(2009) S. Chun et al.   GENOME RESEARCH

Molecular dissection of abnormal wound healing processes resulting in keloid disease

(2009) Barbara Shih et al.   WOUND REPAIR AND REGENERATION

Identification of unique gene expression patterns within different lesional sites of keloids

(2008) Oliver Seifert et al.   WOUND REPAIR AND REGENERATION

Mass spectrometric characterization of cholesterol esters and wax esters in epidermis of fetal, adult and keloidal human skin

(2007) Masahiro Tachi et al.   EXPERIMENTAL DERMATOLOGY

Gene Profiling of Keloid Fibroblasts Shows Altered Expression in Multiple Fibrosis-Associated Pathways

(2007) Joan C. Smith et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY