(Q24620622)

English

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

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scholarly article

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

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generalized epilepsy

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based on heuristic

inferred from title

object named as

Mark McCormack

17

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Elizabeth T Cirulli

object named as

Elizabeth T Cirulli

9

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object named as

Ram S Puranam

25

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object named as

Anna C Need

6

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Krishna Chinthapalli

object named as

Krishna Chinthapalli

24

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Gianpiero L. Cavalleri

object named as

Gianpiero L Cavalleri

3

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Mohamad A. Mikati

object named as

Mohamad A Mikati

20

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object named as

Ruth Ottman

27

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Kevin V Shianna

16

object named as

Kevin V Shianna

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1

object named as

Erin L Heinzen

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David B. Goldstein

30

object named as

David B Goldstein

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7

object named as

Dongliang Ge

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15

object named as

Jessica M Maia

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12

object named as

Curtis E Gumbs

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author name string

Chantal Depondt

2

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Elizabeth K Ruzzo

4

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Nicole M Walley

5

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Min He

8

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Qian Zhao

10

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Kenneth D Cronin

11

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C Ryan Campbell

13

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Linda K Hong

14

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Rodney A Radtke

18

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Gerard D O'Conner

19

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William B Gallentine

21

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Aatif M Husain

22

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Saurabh R Sinha

23

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James O McNamara

26

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Sanjay M Sisodiya

28

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Norman Delanty

29

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language of work or name

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publication date

10 August 2012

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American Journal of Human Genetics

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91

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2

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293-302

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Fast and accurate short read alignment with Burrows-Wheeler transform

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Gremlin-mediated BMP antagonism induces the epithelial-mesenchymal feedback signaling controlling metanephric kidney and limb organogenesis

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Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies

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7 April 2017

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

1 reference

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27 September 2017

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27 September 2017

Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy

1 reference

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27 September 2017

SVA: software for annotating and visualizing sequenced human genomes

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27 September 2017

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

1 reference

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27 September 2017

Genetically complex epilepsies, copy number variants and syndrome constellations

1 reference

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27 September 2017

Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies

1 reference

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27 September 2017

Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes

1 reference

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27 September 2017

Whole genome association studies in complex diseases: where do we stand?

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27 September 2017

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

1 reference

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27 September 2017

A genome-wide investigation of SNPs and CNVs in schizophrenia

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27 September 2017

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

1 reference

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27 September 2017

A 15q13.3 microdeletion segregating with autism

1 reference

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27 September 2017

Acyl-CoA:lysophospholipid acyltransferases

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A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

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27 September 2017

Immunoproteasome expression is induced in mesial temporal lobe epilepsy.

1 reference

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28 November 2018

Copy number variation at 1q21.1 results in a spectrum of developmental abnormalities.

1 reference

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28 November 2018

Familial risks for epilepsy among siblings based on hospitalizations in Sweden.

1 reference

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28 November 2018

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1 reference

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28 November 2018

Identifiers

10.1016/J.AJHG.2012.06.016

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

OpenCitations bibliographic resource ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

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