(Q36152879)

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Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia

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scholarly article

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Europe PubMed Central

PMC publication ID

12 August 2017

Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia (English)

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Europe PubMed Central

PMC publication ID

12 August 2017

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12 August 2017

Elizabeth T Cirulli

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Elizabeth T Cirulli

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Peter B Rosenquist

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Peter Rosenquist

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Jari Tiihonen

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Massimo Gennarelli

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Massimo Gennarelli

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Herbert Y. Meltzer

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Kevin V Shianna

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Kevin V Shianna

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12 August 2017

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Erin L Heinzen

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12 August 2017

David B. Goldstein

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David B Goldstein

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12 August 2017

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Dongliang Ge

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Jessica M Maia

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Curtis E Gumbs

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12 August 2017

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Joseph P McEvoy

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12 August 2017

Min He

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12 August 2017

Qian Zhao

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12 August 2017

C Ryan Campbell

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12 August 2017

Linda Hong

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12 August 2017

Anu Putkonen

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12 August 2017

Tero Hallikainen

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12 August 2017

Eila Repo-Tiihonen

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Deborah L Levy

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12 August 2017

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publication date

2 August 2012

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12 August 2017

American Journal of Human Genetics

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12 August 2017

91

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12 August 2017

2

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12 August 2017

303-312

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Europe PubMed Central

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12 August 2017

Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415532

2 October 2017

Collapsing-based and kernel-based single-gene analyses applied to Genetic Analysis Workshop 17 mini-exome data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415532

2 October 2017

A systematic survey of loss-of-function variants in human protein-coding genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415532

2 October 2017

Statistical analysis of rare sequence variants: an overview of collapsing methods

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415532

2 October 2017

Identification of genetic association of multiple rare variants using collapsing methods

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415532

2 October 2017

Neuronal activity regulates glutamate transporter dynamics in developing astrocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415532

2 October 2017

Genome-wide association study identifies five new schizophrenia loci

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415532

2 October 2017

De novo rates and selection of schizophrenia-associated copy number variants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415532

2 October 2017

Exome sequencing supports a de novo mutational paradigm for schizophrenia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415532

2 October 2017

The potential roles of FGF23 and Klotho in the prognosis of renal and cardiovascular diseases

1 reference

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2 October 2017

The type I inositol 1,4,5-trisphosphate receptor interacts with protein 4.1N to mediate neurite formation through intracellular Ca waves

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415532

2 October 2017

Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415532

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415532

2 October 2017

Schizophrenia and vitamin D related genes could have been subject to latitude-driven adaptation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415532

2 October 2017

The characterization of twenty sequenced human genomes

1 reference

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2 October 2017

Developmental vitamin D deficiency and risk of schizophrenia: a 10-year update

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415532

2 October 2017

Syntaxin-4 defines a domain for activity-dependent exocytosis in dendritic spines

1 reference

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2 October 2017

A method and server for predicting damaging missense mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415532

2 October 2017

11-year follow-up of mortality in patients with schizophrenia: a population-based cohort study (FIN11 study).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415532

2 October 2017

Common polygenic variation contributes to risk of schizophrenia and bipolar disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415532

2 October 2017

Common variants on chromosome 6p22.1 are associated with schizophrenia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415532

2 October 2017

Common variants conferring risk of schizophrenia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415532

2 October 2017

The Sequence Alignment/Map format and SAMtools

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415532

2 October 2017

Fast and accurate short read alignment with Burrows-Wheeler transform

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415532

2 October 2017

A genome-wide investigation of SNPs and CNVs in schizophrenia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415532

2 October 2017

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415532

2 October 2017

Disruption of the neurexin 1 gene is associated with schizophrenia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415532

2 October 2017

Recurrent CNVs disrupt three candidate genes in schizophrenia patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415532

2 October 2017

Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415532

2 October 2017

Identification of loci associated with schizophrenia by genome-wide association and follow-up

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415532

2 October 2017

Large recurrent microdeletions associated with schizophrenia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415532

2 October 2017

Rare chromosomal deletions and duplications increase risk of schizophrenia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415532

2 October 2017

PGA: power calculator for case-control genetic association analyses.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415532

2 October 2017

Schizophrenia and 22q11.2 deletion syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415532

2 October 2017

Alzheimer's disease

1 reference

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2 October 2017

Congenital hydrocephalus in hy3 mice is caused by a frameshift mutation in Hydin, a large novel gene

1 reference

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2 October 2017

Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415532

2 October 2017

Assembling the presynaptic active zone: a characterization of an active one precursor vesicle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415532

2 October 2017

Regulation of AMPA receptor GluR1 subunit surface expression by a 4. 1N-linked actin cytoskeletal association

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415532

2 October 2017

Neurocognitive deficits and functional outcome in schizophrenia: are we measuring the "right stuff"?

1 reference

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Treatment-resistant schizophrenia--the role of clozapine

1 reference

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2 October 2017

Epilepsy and exacerbation of brain injury in mice lacking the glutamate transporter GLT-1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415532

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Identification of Piccolo as a regulator of behavioral plasticity and dopamine transporter internalization

1 reference

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Differential confounding of rare and common variants in spatially structured populations

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Developmental vitamin D deficiency alters MK-801-induced behaviours in adult offspring.

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23 September 2018

Vitamin D-deficient diet rescues hearing loss in Klotho mice.

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23 September 2018

Neonatal vitamin D status and risk of schizophrenia: a population-based case-control study

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Evaluating coverage of genome-wide association studies

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Clozapine treatment for suicidality in schizophrenia: International Suicide Prevention Trial (InterSePT).

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Degeneration of mesencephalic dopaminergic neurons in klotho mouse related to vitamin D exposure

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Differential domain evolution and complex RNA processing in a family of paralogous EPB41 (protein 4.1) genes facilitate expression of diverse tissue-specific isoforms

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12 December 2020

based on heuristic

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Advances on the Genetics of Mendelian Idiopathic Epilepsies

1 reference

https://pubmed.ncbi.nlm.nih.gov/22863191

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Increased exonic de novo mutation rate in individuals with schizophrenia

1 reference

https://pubmed.ncbi.nlm.nih.gov/22863191

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1016/J.AJHG.2012.06.018

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Europe PubMed Central

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12 August 2017

release_vfuvbjsqinhidn6gcofq2bidz4

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Europe PubMed Central

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12 August 2017

PubMed publication ID

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Europe PubMed Central

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12 August 2017

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