Identification of the Bovine Arachnomelia Mutation by Massively Parallel Sequencing Implicates Sulfite Oxidase (SUOX) in Bone Development

Targeted Capture and Next-Generation Sequencing Identifies C9orf75, Encoding Taperin, as the Mutated Gene in Nonsyndromic Deafness DFNB79

(2010) Atteeq Ur Rehman et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia Gene

(2009) Ludovica Volpi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Assignment of the locus for arachnomelia syndrome to bovine chromosome 23 in Simmental cattle

(2009) J. Buitkamp et al.   ANIMAL GENETICS

Arachnomelia in Brown Swiss cattle maps to chromosome 5

(2009) Cord Drögemüller et al.   MAMMALIAN GENOME

Mutation discovery in the mouse using genetically guided array capture and resequencing

(2009) Mark D’Ascenzo et al.   MAMMALIAN GENOME

Targeted capture and massively parallel sequencing of 12 human exomes

(2009) Sarah B. Ng et al.   NATURE

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

The Genome Sequence of Taurine Cattle: A Window to Ruminant Biology and Evolution

(2009) et al.   SCIENCE

Syndrome of arachnomelia in Simmental cattle

(2008) Johannes Buitkamp et al.   BMC Veterinary Research

Accurate whole human genome sequencing using reversible terminator chemistry

(2008) David R. Bentley et al.   NATURE