Rare variants in the CYP27B1 gene are associated with multiple sclerosis

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

(2011) Stephen Sawcer et al.   NATURE

A ChIP-seq defined genome-wide map of vitamin D receptor binding: Associations with disease and evolution

(2010) S. V. Ramagopalan et al.   GENOME RESEARCH

A Novel G102E Mutation ofCYP27B1in a Large Family with Vitamin D-Dependent Rickets Type 1

(2010) Ali S. Alzahrani et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Short- and Long-Term Outcome of Patients with Pseudo-Vitamin D Deficiency Rickets Treated with Calcitriol

(2010) T. Edouard et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease

(2010) Yukihide Momozawa et al.   NATURE GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Uncovering the roles of rare variants in common disease through whole-genome sequencing

(2010) Elizabeth T. Cirulli et al.   NATURE REVIEWS GENETICS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

Risk alleles for multiple sclerosis in multiplex families

(2009) M. J. D'Netto et al.   NEUROLOGY

Ultrafast and memory-efficient alignment of short DNA sequences to the human genome

(2009) Ben Langmead et al.   GENOME BIOLOGY

Vitamin D–Dependent Rickets as a Possible Risk Factor for Multiple Sclerosis

(2008) Øivind Torkildsen et al.   ARCHIVES OF NEUROLOGY

Environmental factors and multiple sclerosis

(2008) George C Ebers   LANCET NEUROLOGY