Identification of putative SNPs in progressive retinal atrophy affected Canis lupus familiaris using exome sequencing

Chronic Periodontitis Genome-wide Association Studies

(2014) K. Rhodin et al.   JOURNAL OF DENTAL RESEARCH

A Novel Form of Progressive Retinal Atrophy in Swedish Vallhund Dogs

(2014) Ann E. Cooper et al.   PLoS One

Increased Expression of MERTK is Associated with a Unique Form of Canine Retinopathy

(2014) Saija J. Ahonen et al.   PLoS One

Downregulation of CPPED1 Expression Improves Glucose Metabolism In Vitro in Adipocytes

(2013) M. Vaittinen et al.   DIABETES

The promise of whole-exome sequencing in medical genetics

(2013) Bahareh Rabbani et al.   JOURNAL OF HUMAN GENETICS

A CNGB1 Frameshift Mutation in Papillon and Phalène Dogs with Progressive Retinal Atrophy

(2013) Saija J. Ahonen et al.   PLoS One

Structural Basis for WDR5 Interaction (Win) Motif Recognition in Human SET1 Family Histone Methyltransferases

(2012) Venkatasubramanian Dharmarajan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance

(2012) Alisa K Manning et al.   NATURE GENETICS

Using Drosophila melanogaster as a Model for Genotoxic Chemical Mutational Studies with a New Program, SnpSift

(2012) Pablo Cingolani et al.   Frontiers in Genetics

Quality control and preprocessing of metagenomic datasets

(2011) R. Schmieder et al.   BIOINFORMATICS

Exome-wide DNA capture and next generation sequencing in domestic and wild species

(2011) Ted Cosart et al.   BMC GENOMICS

Experimental strategies for microRNA target identification

(2011) D. W. Thomson et al.   NUCLEIC ACIDS RESEARCH

Identification of RNF213 as a Susceptibility Gene for Moyamoya Disease and Its Possible Role in Vascular Development

(2011) Wanyang Liu et al.   PLoS One

Mutation discovery in mice by whole exome sequencing

(2011) Heather Fairfield et al.   GENOME BIOLOGY

Association of endothelial lipase Thr111Ile polymorphism with lipid metabolism and microvascular complications in type 2 diabetic patients

(2010) V. Durlach et al.   DIABETES & METABOLISM

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

(2010) A. McKenna et al.   GENOME RESEARCH

MUTATION OF THE PROTON-COUPLED FOLATE TRANSPORTER GENE (PCFT-SLC46A1) IN TURKISH SIBLINGS WITH HEREDITARY FOLATE MALABSORPTION

(2010) Berna Atabay et al.   PEDIATRIC HEMATOLOGY AND ONCOLOGY

MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers

(2010) A. H. Beggs et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Prevalence of retinitis pigmentosa and allied disorders in Denmark

(2009) Marianne Haim et al.   ACTA OPHTHALMOLOGICA

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Role of 5′- and 3′-untranslated regions of mRNAs in human diseases

(2009) Sangeeta Chatterjee et al.   BIOLOGY OF THE CELL

Regulation of gene expression via the core promoter and the basal transcriptional machinery

(2009) Tamar Juven-Gershon et al.   DEVELOPMENTAL BIOLOGY

Canine RD3 mutation establishes rod-cone dysplasia type 2 (rcd2) as ortholog of human and murine rd3

(2009) Anna V. Kukekova et al.   MAMMALIAN GENOME

CENPA overexpression promotes genome instability in pRb-depleted human cells

(2009) Angela Amato et al.   Molecular Cancer

Genetic and biochemical studies of SNPs of the mitochondrial Aβ-degrading protease, hPreP

(2009) Catarina Moreira Pinho et al.   NEUROSCIENCE LETTERS

rs5888 Variant of SCARB1 Gene Is a Possible Susceptibility Factor for Age-Related Macular Degeneration

(2009) Jennyfer Zerbib et al.   PLoS One

Molecular, biochemical and functional characterizations of C1q/TNF family members: adipose-tissue-selective expression patterns, regulation by PPAR-γ agonist, cysteine-mediated oligomerizations, combinatorial associations and metabolic functions

(2008) G. William Wong et al.   BIOCHEMICAL JOURNAL

Mucolipidosis type IV in a Turkish boy associated with a novel MCOLN1 mutation

(2008) Beyhan Tüysüz et al.   BRAIN & DEVELOPMENT

Amyloid β-degrading cryptidases: insulin degrading enzyme, presequence peptidase, and neprilysin

(2008) E. Malito et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

A chromatin-wide transition to H4K20 monomethylation impairs genome integrity and programmed DNA rearrangements in the mouse

(2008) G. Schotta et al.   GENES & DEVELOPMENT