One gene, many neuropsychiatric disorders: lessons from Mendelian diseases

A Genotype-First Approach to Defining the Subtypes of a Complex Disease

(2014) Holly A. Stessman et al.   CELL

Flash Memory: Photochemical Imprinting of Neuronal Action Potentials onto a Microbial Rhodopsin

(2014) Veena Venkatachalam et al.   JOURNAL OF THE AMERICAN CHEMICAL SOCIETY

De novo mutations in schizophrenia implicate synaptic networks

(2014) Menachem Fromer et al.   NATURE

Mutations in SCO2 Are Associated with Autosomal-Dominant High-Grade Myopia

(2013) Khanh-Nhat Tran-Viet et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Nondegenerate Code of Deleterious Variants in Mendelian Loci Contributes to Complex Disease Risk

(2013) David R. Blair et al.   CELL

Spatial and Temporal Mapping of De Novo Mutations in Schizophrenia to a Fetal Prefrontal Cortical Network

(2013) Suleyman Gulsuner et al.   CELL

Coexpression Networks Implicate Human Midfetal Deep Cortical Projection Neurons in the Pathogenesis of Autism

(2013) A. Jeremy Willsey et al.   CELL

Integrative Functional Genomic Analyses Implicate Specific Molecular Pathways and Circuits in Autism

(2013) Neelroop N. Parikshak et al.   CELL

Genome-wide Generation and Systematic Phenotyping of Knockout Mice Reveals New Roles for Many Genes

(2013) Jacqueline K. White et al.   CELL

Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis

(2013)   LANCET

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

De novo mutations in histone-modifying genes in congenital heart disease

(2013) Samir Zaidi et al.   NATURE

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

(2013) S Hong Lee et al.   NATURE GENETICS

Multi-electrode array technologies for neuroscience and cardiology

(2013) Micha E. Spira et al.   Nature Nanotechnology

Epistasis and quantitative traits: using model organisms to study gene–gene interactions

(2013) Trudy F. C. Mackay   NATURE REVIEWS GENETICS

Sequencing studies in human genetics: design and interpretation

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

Twenty-Five Years of Progress: The View from NIMH and NINDS

(2013) Thomas R. Insel et al.   NEURON

Progress in the Genetics of Polygenic Brain Disorders: Significant New Challenges for Neurobiology

(2013) Steven A. McCarroll et al.   NEURON

The Unstable Repeats—Three Evolving Faces of Neurological Disease

(2013) David L. Nelson et al.   NEURON

Efficient genome engineering in human pluripotent stem cells using Cas9 from Neisseria meningitidis

(2013) Z. Hou et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Multiplex Genome Engineering Using CRISPR/Cas Systems

(2013) L. Cong et al.   SCIENCE

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2013) Slavé Petrovski et al.   PLoS Genetics

Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy Is Caused by Mutations in ASAH1

(2012) Jie Zhou et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome

(2012) Viviana Caputo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Impact of diagnostic misclassification on estimation of genetic correlations using genome-wide genotypes

(2012) Naomi R Wray et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes

(2012) Jill A Rosenfeld et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: Rare association with pulmonary valve stenosis

(2012) M. Cristina Digilio et al.   European Journal of Medical Genetics

Beyond genotype to phenotype: why the phenotype of an individual cannot always be predicted from their genome sequence and the environment that they experience

(2012) Alejandro Burga et al.   FEBS Journal

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

(2012) Anita Rauch et al.   LANCET

Patterns and rates of exonic de novo mutations in autism spectrum disorders

(2012) Benjamin M. Neale et al.   NATURE

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

(2012) Stephan J. Sanders et al.   NATURE

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

(2012) Brian J. O’Roak et al.   NATURE

De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia

(2012) Bin Xu et al.   NATURE GENETICS

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

(2012) Erin L Heinzen et al.   NATURE GENETICS

Genetic architectures of psychiatric disorders: the emerging picture and its implications

(2012) Patrick F. Sullivan et al.   NATURE REVIEWS GENETICS

De Novo Gene Disruptions in Children on the Autistic Spectrum

(2012) Ivan Iossifov et al.   NEURON

Random and Non-Random Monoallelic Expression

(2012) Andrew Chess   NEUROPSYCHOPHARMACOLOGY

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

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

Copy number variations in neurodevelopmental disorders

(2012) Hannah M. Grayton et al.   PROGRESS IN NEUROBIOLOGY

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

(2011) Anne Gregor et al.   BMC Medical Genetics

FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism

(2011) Jennifer C. Darnell et al.   CELL

Clan Genomics and the Complex Architecture of Human Disease

(2011) James R. Lupski et al.   CELL

Increased exonic de novo mutation rate in individuals with schizophrenia

(2011) Simon L Girard et al.   NATURE GENETICS

Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome

(2011) Carine Le Goff et al.   NATURE GENETICS

Rare Deletions at 16p13.11 Predispose to a Diverse Spectrum of Sporadic Epilepsy Syndromes

(2010) Erin L. Heinzen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

PRPS1 Mutations: Four Distinct Syndromes and Potential Treatment

(2010) Arjan P.M. de Brouwer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome

(2010) Valérie Malan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Modifier genes in Mendelian disorders: the example of cystic fibrosis

(2010) Garry R. Cutting   Annals of the New York Academy of Sciences

One Hundred Years of Pleiotropy: A Retrospective

(2010) F. W. Stearns   GENETICS

Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity

(2010) Ruxandra Bachmann-Gagescu et al.   GENETICS IN MEDICINE

Fine mapping of ZNF804A and genome-wide significant evidence for its involvement in schizophrenia and bipolar disorder

(2010) H J Williams et al.   MOLECULAR PSYCHIATRY

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

(2010) Kaya Bilgüvar et al.   NATURE

Variability in gene expression underlies incomplete penetrance

(2010) Arjun Raj et al.   NATURE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

(2010) Janel O. Johnson et al.   NEURON

Genetics and molecular pathogenesis of sporadic and hereditary cerebral amyloid angiopathies

(2009) Tamas Revesz et al.   ACTA NEUROPATHOLOGICA

Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals

(2009) E.K. Bijlsma et al.   European Journal of Medical Genetics

Physicochemical property changes of amino acid residues that accompany missense mutations in SCN1A affect epilepsy phenotype severity

(2009) K Kanai et al.   JOURNAL OF MEDICAL GENETICS

Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)

(2009) E A Otto et al.   JOURNAL OF MEDICAL GENETICS

Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders

(2009) S Ben-Shachar et al.   JOURNAL OF MEDICAL GENETICS

Congenital muscular dystrophies with defective glycosylation of dystroglycan: A population study

(2009) E. Mercuri et al.   NEUROLOGY

Neurexin 1 (NRXN1) Deletions in Schizophrenia

(2009) G. Kirov et al.   SCHIZOPHRENIA BULLETIN

Large recurrent microdeletions associated with schizophrenia

(2008) Hreinn Stefansson et al.   NATURE

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

(2008) Heather C. Mefford et al.   NEW ENGLAND JOURNAL OF MEDICINE