Precision medicine, genomics and drug discovery: Table 1.

Update on the safety and efficacy of retroviral gene therapy for immunodeficiency due to adenosine deaminase deficiency

(2016) Maria Pia Cicalese et al.   BLOOD

Making Better Chimeric Antigen Receptors for Adoptive T-cell Therapy

(2016) M. V. Maus et al.   CLINICAL CANCER RESEARCH

Accelerating Medicines Partnership: Alzheimer’s Disease (AMP-AD) Knowledge Portal Aids Alzheimer’s Drug Discovery through Open Data Sharing

(2016) Richard J. Hodes et al.   EXPERT OPINION ON THERAPEUTIC TARGETS

Cocktails for cancer with a measure of immunotherapy

(2016) Heidi Ledford   NATURE

Schizophrenia risk from complex variation of complement component 4

(2016) Aswin Sekar et al.   NATURE

Advancing the understanding of autism disease mechanisms through genetics

(2016) Luis de la Torre-Ubieta et al.   NATURE MEDICINE

Development of immuno-oncology drugs — from CTLA4 to PD1 to the next generations

(2016) Axel Hoos   NATURE REVIEWS DRUG DISCOVERY

The genetics of drug efficacy: opportunities and challenges

(2016) Matthew R. Nelson et al.   NATURE REVIEWS GENETICS

Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs

(2016) Jie Jiang et al.   NEURON

The delivery of therapeutic oligonucleotides

(2016) Rudolph L. Juliano   NUCLEIC ACIDS RESEARCH

C9orf72 is required for proper macrophage and microglial function in mice

(2016) J. G. ORourke et al.   SCIENCE

Dissecting the multicellular ecosystem of metastatic melanoma by single-cell RNA-seq

(2016) I. Tirosh et al.   SCIENCE

Treating Immunodeficiency through HSC Gene Therapy

(2016) Claire Booth et al.   TRENDS IN MOLECULAR MEDICINE

New and emerging targeted therapies for cystic fibrosis

(2016) Bradley S Quon et al.   BMJ-British Medical Journal

New and emerging targeted therapies for cystic fibrosis

(2016) Bradley S Quon et al.   BMJ-British Medical Journal

Emerging Agents and New Mutations in EGFR-Mutant Lung Cancer

(2015) D. Ayeni et al.   CLINICAL CANCER RESEARCH

Promising Targets for the Treatment of Neurodegenerative Diseases

(2015) SL Budd Haeberlein et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

Gene-based therapies in lipidology

(2015) Daniel Gaudet et al.   CURRENT OPINION IN LIPIDOLOGY

Genetics of Inflammatory Bowel Diseases

(2015) Dermot P.B. McGovern et al.   GASTROENTEROLOGY

Tagged tags engage disposal

(2015) Noriyuki Matsuda et al.   NATURE

The C9orf72 repeat expansion disrupts nucleocytoplasmic transport

(2015) Ke Zhang et al.   NATURE

Building the foundation for genomics in precision medicine

(2015) Samuel J. Aronson et al.   NATURE

GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport

(2015) Brian D. Freibaum et al.   NATURE

The ubiquitin kinase PINK1 recruits autophagy receptors to induce mitophagy

(2015) Michael Lazarou et al.   NATURE

Gene therapy returns to centre stage

(2015) Luigi Naldini   NATURE

Functional footprinting of regulatory DNA

(2015) Jeff Vierstra et al.   NATURE METHODS

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

(2015) Axel Freischmidt et al.   NATURE NEUROSCIENCE

Knocking down disease: a progress report on siRNA therapeutics

(2015) Anders Wittrup et al.   NATURE REVIEWS GENETICS

Rapid progression of familial amyloidotic polyneuropathy

(2015) David Adams et al.   NEUROLOGY

Human C9ORF72 Hexanucleotide Expansion Reproduces RNA Foci and Dipeptide Repeat Proteins but Not Neurodegeneration in BAC Transgenic Mice

(2015) Owen M. Peters et al.   NEURON

C9orf72 BAC Transgenic Mice Display Typical Pathologic Features of ALS/FTD

(2015) Jacqueline G. O’Rourke et al.   NEURON

Efficacy and Safety of Alirocumab in Reducing Lipids and Cardiovascular Events

(2015) Jennifer G. Robinson et al.   NEW ENGLAND JOURNAL OF MEDICINE

Efficacy and Safety of Evolocumab in Reducing Lipids and Cardiovascular Events

(2015) Marc S. Sabatine et al.   NEW ENGLAND JOURNAL OF MEDICINE

DNA-Repair Defects and Olaparib in Metastatic Prostate Cancer

(2015) Joaquin Mateo et al.   NEW ENGLAND JOURNAL OF MEDICINE

A New Initiative on Precision Medicine

(2015) Francis S. Collins et al.   NEW ENGLAND JOURNAL OF MEDICINE

The odds of immunotherapy success

(2015) M. M. Gubin et al.   SCIENCE

Adoptive cell transfer as personalized immunotherapy for human cancer

(2015) S. A. Rosenberg et al.   SCIENCE

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

(2015) E. T. Cirulli et al.   SCIENCE

Mutational landscape determines sensitivity to PD-1 blockade in non-small cell lung cancer

(2015) N. A. Rizvi et al.   SCIENCE

The future of immune checkpoint therapy

(2015) P. Sharma et al.   SCIENCE

Is all cancer therapy immunotherapy?

(2015) Marcia Belvin et al.   Science Translational Medicine

On being less tolerant: Enhanced cancer immunosurveillance enabled by targeting checkpoints and agonists of T cell activation

(2015) Alexander M. Lesokhin et al.   Science Translational Medicine

Adoptive cellular therapy: A race to the finish line

(2015) Carl H. June et al.   Science Translational Medicine

Genetic variants associated with autoimmunity drive NFκB signaling and responses to inflammatory stimuli

(2015) William J. Housley et al.   Science Translational Medicine

Mechanisms of toxicity in C9FTLD/ALS

(2014) Tania F. Gendron et al.   ACTA NEUROPATHOLOGICA

Individualized Medicine from Prewomb to Tomb

(2014) Eric J. Topol   CELL

Safety and efficacy of drisapersen for the treatment of Duchenne muscular dystrophy (DEMAND II): an exploratory, randomised, placebo-controlled phase 2 study

(2014) Thomas Voit et al.   LANCET NEUROLOGY

Quantitative Proteomics Reveal a Feedforward Mechanism for Mitochondrial PARKIN Translocation and Ubiquitin Chain Synthesis

(2014) Alban Ordureau et al.   MOLECULAR CELL

RNA interference rebooted

(2014) Erika Check Hayden   NATURE

Reversible and adaptive resistance to BRAF(V600E) inhibition in melanoma

(2014) Chong Sun et al.   NATURE

C9orf72 nucleotide repeat structures initiate molecular cascades of disease

(2014) Aaron R. Haeusler et al.   NATURE

Genetic Basis for Clinical Response to CTLA-4 Blockade in Melanoma

(2014) Alexandra Snyder et al.   NEW ENGLAND JOURNAL OF MEDICINE

Romosozumab in Postmenopausal Women with Osteopenia

(2014)   NEW ENGLAND JOURNAL OF MEDICINE

Optineurin is an autophagy receptor for damaged mitochondria in parkin-mediated mitophagy that is disrupted by an ALS-linked mutation

(2014) Yvette C. Wong et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Poly-dipeptides encoded by the C9orf72 repeats bind nucleoli, impede RNA biogenesis, and kill cells

(2014) I. Kwon et al.   SCIENCE

Eteplirsen for the treatment of Duchenne muscular dystrophy

(2013) Jerry R. Mendell et al.   ANNALS OF NEUROLOGY

Lessons from the Cancer Genome

(2013) Levi A. Garraway et al.   CELL

Clinical implications of recent breakthroughs in amyotrophic lateral sclerosis

(2013) Philip Van Damme et al.   CURRENT OPINION IN NEUROLOGY

Implementing genomic medicine in the clinic: the future is here

(2013) Teri A. Manolio et al.   GENETICS IN MEDICINE

From Mutation Identification to Therapy: Discovery and Origins of the First Approved Gene Therapy in the Western World

(2013) John J.P. Kastelein et al.   HUMAN GENE THERAPY

Gene therapy clinical trials worldwide to 2012 - an update

(2013) Samantha L. Ginn et al.   JOURNAL OF GENE MEDICINE

State of play in amyotrophic lateral sclerosis genetics

(2013) Alan E Renton et al.   NATURE NEUROSCIENCE

Validating therapeutic targets through human genetics

(2013) Robert M. Plenge et al.   NATURE REVIEWS DRUG DISCOVERY

Rare-disease genetics in the era of next-generation sequencing: discovery to translation

(2013) Kym M. Boycott et al.   NATURE REVIEWS GENETICS

Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS

(2013) Peter E.A. Ash et al.   NEURON

RNA Toxicity from the ALS/FTD C9ORF72 Expansion Is Mitigated by Antisense Intervention

(2013) Christopher J. Donnelly et al.   NEURON

The NHGRI GWAS Catalog, a curated resource of SNP-trait associations

(2013) Danielle Welter et al.   NUCLEIC ACIDS RESEARCH

Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration

(2013) C. Lagier-Tourenne et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Simple Genetics for a Complex Disease

(2013) J. C. Cohen et al.   SCIENCE

Phosphoinositide 3-Kinase   Gene Mutation Predisposes to Respiratory Infection and Airway Damage

(2013) I. Angulo et al.   SCIENCE

An Erythroid Enhancer of BCL11A Subject to Genetic Variation Determines Fetal Hemoglobin Level

(2013) D. E. Bauer et al.   SCIENCE

Power of Rare Diseases: Found in Translation

(2013) M. C. Fishman   Science Translational Medicine

Antisense Technology: An Emerging Platform for Cardiovascular Disease Therapeutics

(2013) Richard G. Lee et al.   Journal of Cardiovascular Translational Research

Clinical development of an antisense therapy for the treatment of transthyretin-associated polyneuropathy

(2012) Elizabeth J. Ackermann et al.   AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS

Ataluren as an Agent for Therapeutic Nonsense Suppression

(2012) Stuart W. Peltz et al.   Annual Review of Medicine

A pharmacologic perspective on newly emerging T-cell manipulation technologies

(2012) Dominic Smethurst   BRITISH JOURNAL OF CLINICAL PHARMACOLOGY

Personalized medicine: hope or hype?

(2012) K. Salari et al.   EUROPEAN HEART JOURNAL

Efficacy and long-term safety of alipogene tiparvovec (AAV1-LPLS447X) gene therapy for lipoprotein lipase deficiency: an open-label trial

(2012) D Gaudet et al.   GENE THERAPY

Use of genome-wide association studies for drug repositioning

(2012) Philippe Sanseau et al.   NATURE BIOTECHNOLOGY

Genomewide Association Studies and Common Disease — Realizing Clinical Utility

(2012) Lars Fugger et al.   NEW ENGLAND JOURNAL OF MEDICINE

Epidemiology, epigenetics and the ‘Gloomy Prospect’: embracing randomness in population health research and practice

(2011) George Davey Smith   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Lipodystrophy: metabolic insights from a rare disorder

(2010) Isabel Huang-Doran et al.   JOURNAL OF ENDOCRINOLOGY

Mipomersen, an apolipoprotein B synthesis inhibitor, for lowering of LDL cholesterol concentrations in patients with homozygous familial hypercholesterolaemia: a randomised, double-blind, placebo-controlled trial

(2010) Frederick J Raal et al.   LANCET

The Path to Personalized Medicine

(2010) Margaret A. Hamburg et al.   NEW ENGLAND JOURNAL OF MEDICINE

Wild-TypeKRASIs Required for Panitumumab Efficacy in Patients With Metastatic Colorectal Cancer

(2008) Rafael G. Amado et al.   JOURNAL OF CLINICAL ONCOLOGY