Scan statistic-based analysis of exome sequencing data identifies FAN1 at 15q13.3 as a susceptibility gene for schizophrenia and autism

Family-based association tests for sequence data, and comparisons with population-based association tests

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(2013) Elsa Suberbielle et al.   NATURE NEUROSCIENCE

Modulation of DNA base excision repair during neuronal differentiation

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Scan-Statistic Approach Identifies Clusters of Rare Disease Variants in LRP2, a Gene Linked and Associated with Autism Spectrum Disorders, in Three Datasets

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Optimal tests for rare variant effects in sequencing association studies

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CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics

(2012) Dheeraj Malhotra et al.   CELL

A survey of tissue-specific genomic imprinting in mammals

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KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

(2012) Christelle Golzio et al.   NATURE

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

(2012) Bin Xu et al.   NATURE GENETICS

Genome stability, progressive kidney failure and aging

(2012) Hannes Lans et al.   NATURE GENETICS

FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair

(2012) Weibin Zhou et al.   NATURE GENETICS

Hippocampal Adult Neurogenesis Is Maintained by Neil3-Dependent Repair of Oxidative DNA Lesions in Neural Progenitor Cells

(2012) Christine Elisabeth Regnell et al.   Cell Reports

Common variants at VRK2 and TCF4 conferring risk of schizophrenia

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De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia

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Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia

(2011) Vladimir Vacic et al.   NATURE

Increased exonic de novo mutation rate in individuals with schizophrenia

(2011) Simon L Girard et al.   NATURE GENETICS

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

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High Frequencies of De Novo CNVs in Bipolar Disorder and Schizophrenia

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Genetic and cognitive windows into circuit mechanisms of psychiatric disease

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Fast and accurate long-read alignment with Burrows–Wheeler transform

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Identification of KIAA1018/FAN1, a DNA Repair Nuclease Recruited to DNA Damage by Monoubiquitinated FANCD2

(2010) Craig MacKay et al.   CELL

Deficiency of FANCD2-Associated Nuclease KIAA1018/FAN1 Sensitizes Cells to Interstrand Crosslinking Agents

(2010) Katja Kratz et al.   CELL

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

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A Genetic Screen Identifies FAN1, a Fanconi Anemia-Associated Nuclease Necessary for DNA Interstrand Crosslink Repair

(2010) Agata Smogorzewska et al.   MOLECULAR CELL

Neurodevelopmental disorders involving genomic imprinting at human chromosome 15q11–q13

(2010) Stormy J. Chamberlain et al.   NEUROBIOLOGY OF DISEASE

A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes

(2009) Marwan Shinawi et al.   NATURE GENETICS

The role of the DNA damage response pathways in brain development and microcephaly: Insight from human disorders

(2008) Mark O’Driscoll et al.   DNA REPAIR

The role of the DNA damage response in neuronal development, organization and maintenance

(2008) Ari Barzilai et al.   DNA REPAIR

Correlation analysis between genome-wide expression profiles and cytoarchitectural abnormalities in the prefrontal cortex of psychiatric disorders

(2008) S Kim et al.   MOLECULAR PSYCHIATRY

Rare chromosomal deletions and duplications increase risk of schizophrenia

(2008) Jennifer L. Stone et al.   NATURE

Large recurrent microdeletions associated with schizophrenia

(2008) Hreinn Stefansson et al.   NATURE

Strong association of de novo copy number mutations with sporadic schizophrenia

(2008) Bin Xu et al.   NATURE GENETICS

Association study of a (TG)n dinucleotide repeat at chromosome 15q13.3 and schizophrenia in the Chinese population

(2008) Jie Ma et al.   PSYCHIATRY RESEARCH