De novo mutations in human genetic disease

Resolving the Breakpoints of the 17q21.31 Microdeletion Syndrome with Next-Generation Sequencing

(2012) Andy Itsara et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Paternal Age Effect Mutations and Selfish Spermatogonial Selection: Causes and Consequences for Human Disease

(2012) Anne Goriely et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

(2012) Gijs W E Santen et al.   NATURE GENETICS

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

(2012) Jean-Baptiste Rivière et al.   NATURE GENETICS

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

(2012) Yoshinori Tsurusaki et al.   NATURE GENETICS

De Novo Gene Disruptions in Children on the Autistic Spectrum

(2012) Ivan Iossifov et al.   NEURON

Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia

(2011) Asli Sirmaci et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability

(2011) Fadi F. Hamdan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA)

(2011) Lisenka E.L.M. Vissers et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Human Copy Number Variation and Complex Genetic Disease

(2011) Santhosh Girirajan et al.   Annual Review of Genetics

Whole-exome sequencing of DNA from peripheral blood mononuclear cells (PBMC) and EBV-transformed lymphocytes from the same donor

(2011) Eric R Londin et al.   BMC GENOMICS

Chromosome Catastrophes Involve Replication Mechanisms Generating Complex Genomic Rearrangements

(2011) Pengfei Liu et al.   CELL

Mapping Rare and Common Causal Alleles for Complex Human Diseases

(2011) Soumya Raychaudhuri   CELL

Chromosome Abnormalities in the Human Oocyte

(2011) E. Fragouli et al.   CYTOGENETIC AND GENOME RESEARCH

The causality of de novo copy number variants is overestimated

(2011) Joris R Vermeesch et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Maternal germline-specific effect of DNA ligase I on CTG/CAG instability

(2011) S. Tome et al.   HUMAN MOLECULAR GENETICS

Chromosomal mosaicism in human preimplantation embryos: a systematic review

(2011) Jannie van Echten-Arends et al.   HUMAN REPRODUCTION UPDATE

De novo copy number variants associated with intellectual disability have a paternal origin and age bias

(2011) J. Y. Hehir-Kwa et al.   JOURNAL OF MEDICAL GENETICS

Using case-parent trios to look for rare de novo genetic variants in adult-onset neurodegenerative diseases

(2011) Roger Pamphlett et al.   JOURNAL OF NEUROSCIENCE METHODS

X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism

(2011) Ying Wang et al.   MOLECULAR GENETICS AND METABOLISM

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

(2011) Hossein Najmabadi et al.   NATURE

Copy number variation and selection during reprogramming to pluripotency

(2011) Samer M. Hussein et al.   NATURE

Performance comparison of whole-genome sequencing platforms

(2011) Hugo Y K Lam et al.   NATURE BIOTECHNOLOGY

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

(2011) Alexander Hoischen et al.   NATURE GENETICS

Exome sequencing supports a de novo mutational paradigm for schizophrenia

(2011) Bin Xu et al.   NATURE GENETICS

Increased exonic de novo mutation rate in individuals with schizophrenia

(2011) Simon L Girard et al.   NATURE GENETICS

Variation in genome-wide mutation rates within and between human families

(2011) Donald F Conrad et al.   NATURE GENETICS

Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome

(2011) Twinkal C Pansuriya et al.   NATURE GENETICS

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

(2011) Brian J O'Roak et al.   NATURE GENETICS

Decoding cell lineage from acquired mutations using arbitrary deep sequencing

(2011) Cheryl A Carlson et al.   NATURE METHODS

Exome sequencing as a tool for Mendelian disease gene discovery

(2011) Michael J. Bamshad et al.   NATURE REVIEWS GENETICS

Variation in the mutation rate across mammalian genomes

(2011) Alan Hodgkinson et al.   NATURE REVIEWS GENETICS

A Mosaic Activating Mutation inAKT1Associated with the Proteus Syndrome

(2011) Marjorie J. Lindhurst et al.   NEW ENGLAND JOURNAL OF MEDICINE

In Silico Gene Prioritization by Integrating Multiple Data Sources

(2011) Yixuan Chen et al.   PLoS One

Variants of the protein PRDM9 differentially regulate a set of human meiotic recombination hotspots highly active in African populations

(2011) I. L. Berg et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

DA DA: Degree-Aware Algorithms for Network-Based Disease Gene Prioritization

(2011) Sinan Erten et al.   BioData Mining

Unlocking Mendelian disease using exome sequencing

(2011) Christian Gilissen et al.   GENOME BIOLOGY

Direct Measure of the De Novo Mutation Rate in Autism and Schizophrenia Cohorts

(2010) Philip Awadalla et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in “paternal age-effect” syndromes

(2010) Anne Goriely et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genetic Heterogeneity in Human Disease

(2010) Jon McClellan et al.   CELL

De novo rates and selection of large copy number variation

(2010) A. Itsara et al.   GENOME RESEARCH

Analysis of next-generation genomic data in cancer: accomplishments and challenges

(2010) L. Ding et al.   HUMAN MOLECULAR GENETICS

Genomic Analysis of Mental Illness

(2010) Jon McClellan et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Molecular pathways involved in neuronal cell adhesion and membrane scaffolding contribute to schizophrenia and bipolar disorder susceptibility

(2010) C O'Dushlaine et al.   MOLECULAR PSYCHIATRY

Advancing paternal age and risk of autism: new evidence from a population-based study and a meta-analysis of epidemiological studies

(2010) C M Hultman et al.   MOLECULAR PSYCHIATRY

Somatic gene mutation and human disease other than cancer: An update

(2010) Robert P. Erickson   MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH

Functional impact of global rare copy number variation in autism spectrum disorders

(2010) Dalila Pinto et al.   NATURE

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

(2010) Santhosh Girirajan et al.   NATURE GENETICS

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

(2010) Alexander Hoischen et al.   NATURE GENETICS

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS

A de novo paradigm for mental retardation

(2010) Lisenka E L M Vissers et al.   NATURE GENETICS

PRDM9 variation strongly influences recombination hot-spot activity and meiotic instability in humans

(2010) Ingrid L Berg et al.   NATURE GENETICS

Missing heritability: paternal age effect mutations and selfish spermatogonia

(2010) Anne Goriely et al.   NATURE REVIEWS GENETICS

Advances in understanding cancer genomes through second-generation sequencing

(2010) Matthew Meyerson et al.   NATURE REVIEWS GENETICS

Timing of De Novo Mutagenesis — A Twin Study of Sodium-Channel Mutations

(2010) Lata Vadlamudi et al.   NEW ENGLAND JOURNAL OF MEDICINE

The population genetics of mutations: good, bad and indifferent

(2010) L. Loewe et al.   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

Rate, molecular spectrum, and consequences of human mutation

(2010) M. Lynch   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

De novo mutations in the gene encoding the synaptic scaffolding proteinSHANK3in patients ascertained for schizophrenia

(2010) Julie Gauthier et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

PRDM9 Is a Major Determinant of Meiotic Recombination Hotspots in Humans and Mice

(2010) F. Baudat et al.   SCIENCE

Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing

(2010) J. C. Roach et al.   SCIENCE

Maternal Plasma DNA Sequencing Reveals the Genome-Wide Genetic and Mutational Profile of the Fetus

(2010) Y. M. D. Lo et al.   Science Translational Medicine

Characterising and Predicting Haploinsufficiency in the Human Genome

(2010) Ni Huang et al.   PLoS Genetics

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Fetal Nucleic Acids in Maternal Plasma

(2009) Y.M. Dennis Lo   Annals of the New York Academy of Sciences

Copy Number Variation in Human Health, Disease, and Evolution

(2009) Feng Zhang et al.   Annual Review of Genomics and Human Genetics

Recurrence risk due to germ line mosaicism: Duchenne and Becker muscular dystrophy

(2009) ATJM Helderman-van den Enden et al.   CLINICAL GENETICS

Detection of nonneutral substitution rates on mammalian phylogenies

(2009) K. S. Pollard et al.   GENOME RESEARCH

From germline towards somatic mutations in the pathophysiology of vascular anomalies

(2009) N. Limaye et al.   HUMAN MOLECULAR GENETICS

Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis

(2009) L. E. L. M. Vissers et al.   JOURNAL OF MEDICAL GENETICS

Chromosome instability is common in human cleavage-stage embryos

(2009) Evelyne Vanneste et al.   NATURE MEDICINE

Understanding what determines the frequency and pattern of human germline mutations

(2009) Norman Arnheim et al.   NATURE REVIEWS GENETICS

Mutations inSYNGAP1in Autosomal Nonsyndromic Mental Retardation

(2009) Fadi F. Hamdan et al.   NEW ENGLAND JOURNAL OF MEDICINE

Somatic evolutionary genomics: Mutations during development cause highly variable genetic mosaicism with risk of cancer and neurodegeneration

(2009) S. A. Frank   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Forging Links between Human Mental Retardation–Associated CNVs and Mouse Gene Knockout Models

(2009) Caleb Webber et al.   PLoS Genetics

Structural Variation of Chromosomes in Autism Spectrum Disorder

(2008) Christian R. Marshall et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Statement on guidance for genetic counseling in advanced paternal age

(2008) Helga V Toriello et al.   GENETICS IN MEDICINE

Genomic microarrays in mental retardation: A practical workflow for diagnostic applications

(2008) David A. Koolen et al.   HUMAN MUTATION

The Yin and Yang of YY1 in the nervous system

(2008) Ye He et al.   JOURNAL OF NEUROCHEMISTRY

Copy-number variations associated with neuropsychiatric conditions

(2008) Edwin H. Cook Jr et al.   NATURE

Strong association of de novo copy number mutations with sporadic schizophrenia

(2008) Bin Xu et al.   NATURE GENETICS

Extensive genomic copy number variation in embryonic stem cells

(2008) Q. Liang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA