Pathogenic variants in non-protein-coding sequences

Sequencing studies in human genetics: design and interpretation

(2013) David B. Goldstein et al.   NATURE REVIEWS GENETICS

Genome-Wide Quantitative Enhancer Activity Maps Identified by STARR-seq

(2013) C. D. Arnold et al.   SCIENCE

Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I

(2012) Ghada M.H. Abdel-Salam et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Eukaryotic genomes may exhibit up to 10 generic classes of gene promoters

(2012) Paul Gagniuc et al.   BMC GENOMICS

GENCODE: The reference human genome annotation for The ENCODE Project

(2012) J. Harrow et al.   GENOME RESEARCH

HELLP babies link a novel lincRNA to the trophoblast cell cycle

(2012) Marie van Dijk et al.   JOURNAL OF CLINICAL INVESTIGATION

A misplaced lncRNA causes brachydactyly in humans

(2012) Philipp G. Maass et al.   JOURNAL OF CLINICAL INVESTIGATION

An expansive human regulatory lexicon encoded in transcription factor footprints

(2012) Shane Neph et al.   NATURE

The long-range interaction landscape of gene promoters

(2012) Amartya Sanyal et al.   NATURE

Landscape of transcription in human cells

(2012) Sarah Djebali et al.   NATURE

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

The accessible chromatin landscape of the human genome

(2012) Robert E. Thurman et al.   NATURE

Interpreting noncoding genetic variation in complex traits and human disease

(2012) Lucas D Ward et al.   NATURE BIOTECHNOLOGY

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Evidence of Abundant Purifying Selection in Humans for Recently Acquired Regulatory Functions

(2012) L. D. Ward et al.   SCIENCE

Mutation Altering the miR-184 Seed Region Causes Familial Keratoconus with Cataract

(2011) Anne E. Hughes et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing

(2011) Giulia Soldà et al.   HUMAN MOLECULAR GENETICS

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

(2011) Jason Ernst et al.   NATURE

Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach

(2011) Belinda Giardine et al.   NATURE GENETICS

Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans

(2011) Loïc de Pontual et al.   NATURE GENETICS

Enhancer function: new insights into the regulation of tissue-specific gene expression

(2011) Chin-Tong Ong et al.   NATURE REVIEWS GENETICS

miR-96 regulates the progression of differentiation in mammalian cochlear inner and outer hair cells

(2011) S. Kuhn et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutations in U4atac snRNA, a Component of the Minor Spliceosome, in the Developmental Disorder MOPD I

(2011) H. He et al.   SCIENCE

A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25

(2010) Pirro G Hysi et al.   NATURE GENETICS

miRBase: integrating microRNA annotation and deep-sequencing data

(2010) A. Kozomara et al.   NUCLEIC ACIDS RESEARCH

Duplications Involving a Conserved Regulatory Element Downstream of BMP2 Are Associated with Brachydactyly Type A2

(2009) Katarina Dathe et al.   AMERICAN JOURNAL OF HUMAN GENETICS

MicroRNAs: Target Recognition and Regulatory Functions

(2009) David P. Bartel   CELL

Evolution and Functions of Long Noncoding RNAs

(2009) Chris P. Ponting et al.   CELL

Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss

(2009) Ángeles Mencía et al.   NATURE GENETICS

An ENU-induced mutation of miR-96 associated with progressive hearing loss in mice

(2009) Morag A Lewis et al.   NATURE GENETICS

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

(2009) Sabina Benko et al.   NATURE GENETICS

Long non-coding RNAs: insights into functions

(2009) Tim R. Mercer et al.   NATURE REVIEWS GENETICS

Exploiting and antagonizing microRNA regulation for therapeutic and experimental applications

(2009) Brian D. Brown et al.   NATURE REVIEWS GENETICS

RNA Gain-of-Function in Spinocerebellar Ataxia Type 8

(2009) Randy S. Daughters et al.   PLoS Genetics

Expression of human snRNA genes from beginning to end

(2008) Sylvain Egloff et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Canine Polydactyl Mutations With Heterogeneous Origin in the Conserved Intronic Sequence of LMBR1

(2008) K. Park et al.   GENETICS

Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein

(2008) Yongsu Jeong et al.   NATURE GENETICS

Disruption of an AP-2α binding site in an IRF6 enhancer is associated with cleft lip

(2008) Fedik Rahimov et al.   NATURE GENETICS

MicroRNA target site polymorphisms and human disease

(2008) Praveen Sethupathy et al.   TRENDS IN GENETICS

Identification and functional characterization of novel telomerase variant alleles in Japanese patients with bone-marrow failure syndromes

(2007) Junko Takeuchi et al.   BLOOD CELLS MOLECULES AND DISEASES