Large-scale whole-genome sequencing of the Icelandic population

Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes

(2014) Valgerdur Steinthorsdottir et al.   NATURE GENETICS

The origin, evolution, and functional impact of short insertion-deletion variants identified in 179 human genomes

(2013) S. B. Montgomery et al.   GENOME RESEARCH

Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits

(2013) Unnur Styrkarsdottir et al.   NATURE

A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration

(2013) Hannes Helgason et al.   NATURE GENETICS

The missense of smell: functional variability in the human odorant receptor repertoire

(2013) Joel D Mainland et al.   NATURE NEUROSCIENCE

Central Precocious Puberty Caused by Mutations in the Imprinted Gene MKRN3

(2013) Ana Paula Abreu et al.   NEW ENGLAND JOURNAL OF MEDICINE

Integrative Annotation of Variants from 1092 Humans: Application to Cancer Genomics

(2013) Ekta Khurana et al.   SCIENCE

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2013) Slavé Petrovski et al.   PLoS Genetics

Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease

(2012) Janel O. Johnson et al.   BRAIN

Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome

(2012) Tobias B. Haack et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations

(2012) Marianna Ciccolella et al.   JOURNAL OF MEDICAL GENETICS

A mutation in APP protects against Alzheimer’s disease and age-related cognitive decline

(2012) Thorlakur Jonsson et al.   NATURE

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

(2012) Wenqing Fu et al.   NATURE

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Discovery of common variants associated with low TSH levels and thyroid cancer risk

(2012) Julius Gudmundsson et al.   NATURE GENETICS

A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer

(2012) Julius Gudmundsson et al.   NATURE GENETICS

Variant of TREM2 Associated with the Risk of Alzheimer's Disease

(2012) Thorlakur Jonsson et al.   NEW ENGLAND JOURNAL OF MEDICINE

Ensembl 2013

(2012) Paul Flicek et al.   NUCLEIC ACIDS RESEARCH

PANTHER in 2013: modeling the evolution of gene function, and other gene attributes, in the context of phylogenetic trees

(2012) Huaiyu Mi et al.   NUCLEIC ACIDS RESEARCH

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

(2012) J. A. Tennessen et al.   SCIENCE

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

(2012) D. G. MacArthur et al.   SCIENCE

Expanded polyglutamine domain possesses nuclear export activity which modulates subcellular localization and toxicity of polyQ disease protein via exportin-1

(2011) Wing Man Chan et al.   HUMAN MOLECULAR GENETICS

Canalicular ABC transporters and liver disease

(2011) Michael Nicolaou et al.   JOURNAL OF PATHOLOGY

Mapping and analysis of chromatin state dynamics in nine human cell types

(2011) Jason Ernst et al.   NATURE

Identification of low-frequency variants associated with gout and serum uric acid levels

(2011) Patrick Sulem et al.   NATURE GENETICS

A rare variant in MYH6 is associated with high risk of sick sinus syndrome

(2011) Hilma Holm et al.   NATURE GENETICS

A germline variant in the TP53 polyadenylation signal confers cancer susceptibility

(2011) Simon N Stacey et al.   NATURE GENETICS

Identification of an imprinted master trans regulator at the KLF14 locus related to multiple metabolic phenotypes

(2011) Kerrin S Small et al.   NATURE GENETICS

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Mutations in BRIP1 confer high risk of ovarian cancer

(2011) Thorunn Rafnar et al.   NATURE GENETICS

NCBI Reference Sequences (RefSeq): current status, new features and genome annotation policy

(2011) K. D. Pruitt et al.   NUCLEIC ACIDS RESEARCH

Ensembl 2012

(2011) P. Flicek et al.   NUCLEIC ACIDS RESEARCH

Exome Sequencing in Brown-Vialetto-Van Laere Syndrome

(2010) Janel O. Johnson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54

(2010) Peter Green et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

(2010) William McLaren et al.   BIOINFORMATICS

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

(2010) A. McKenna et al.   GENOME RESEARCH

Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment

(2010) Annet M. Bosch et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Cor pulmonale in a patient with Brown–Vialetto–Van Laere syndrome: A case report

(2010) Francisco Pereira da Silva-Júnior et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants

(2010) Yingrui Li et al.   NATURE GENETICS

Pontobulbar palsy and sensorineural deafness (Brown-Vialetto-van Laere syndrome): The first case from Libya

(2009) Fathi O. Dakhil et al.   Amyotrophic Lateral Sclerosis

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Parental origin of sequence variants associated with complex diseases

(2009) Augustine Kong et al.   NATURE

The imprinted DLK1-MEG3 gene region on chromosome 14q32.2 alters susceptibility to type 1 diabetes

(2009) Chris Wallace et al.   NATURE GENETICS

Progressive familial intrahepatic cholestasis

(2009) Anne Davit-Spraul et al.   Orphanet Journal of Rare Diseases

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

(2009) L. A. Hindorff et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genome-wide nucleotide-level mammalian ancestor reconstruction

(2008) B. Paten et al.   GENOME RESEARCH

Enredo and Pecan: Genome-wide mammalian consistency-based multiple alignment with paralogs

(2008) B. Paten et al.   GENOME RESEARCH

Detection of sharing by descent, long-range phasing and haplotype imputation

(2008) Augustine Kong et al.   NATURE GENETICS

Brown-Vialetto-Van Laere syndrome

(2008) Sivakumar Sathasivam   Orphanet Journal of Rare Diseases