(Q47581915)

15 June 2018

meta-analysis

0 references

title

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies (English)

1 reference

15 June 2018

author

Rhys H Thomas

32

1 reference

http://europepmc.org/abstract/MED/29100083

4 February 2018

Philippe M. Campeau

95

1 reference

http://europepmc.org/abstract/MED/29100083

4 February 2018

Guy A. Rouleau

101

Guy A Rouleau

1 reference

15 June 2018

Moira Blyth

36

0 references

David R. FitzPatrick

David R FitzPatrick

26

0 references

Ingrid Scheffer

102

Ingrid E Scheffer

1 reference

15 June 2018

Katrin Õunap

50

Katrin Õunap

1 reference

15 June 2018

92

Guillaume Bourque

1 reference

PMCID

5673604

Saadet Mercimek-Mahmutoglu

15 June 2018

99

Saadet Mercimek-Mahmutoglu

1 reference

Deciphering Developmental Disorders Study

15 June 2018

Simon L Girard

98

0 references

25

Deciphering Developmental Disorders Study

1 reference

15 June 2018

49

Alain Verloes

1 reference

15 June 2018

62

Bruno Dallapiccola

1 reference

15 June 2018

5

Dan Spiegelman

1 reference

15 June 2018

107

Jacques L Michaud

1 reference

15 June 2018

Elsa Rossignol

105

Elsa Rossignol

1 reference

15 June 2018

Lynette Sadleir

94

Lynette G Sadleir

1 reference

15 June 2018

Patrick Cossette

3

Patrick Cossette

1 reference

15 June 2018

Heather C. Mefford

103

Heather C Mefford

1 reference

15 June 2018

Samuel Berkovic

93

Samuel F Berkovic

1 reference

15 June 2018

Zoha Kibar

96

Zoha Kibar

1 reference

15 June 2018

Klaas J. Wierenga

65

Klaas J Wierenga

1 reference

15 June 2018

Ange-Line Bruel

48

Ange-Line Bruel

1 reference

15 June 2018

Caroline Nava

74

Caroline Nava

1 reference

15 June 2018

10

Maxime Cadieux-Dion

1 reference

15 June 2018

17

Christine Massicotte

1 reference

15 June 2018

12

Caroline Meloche

1 reference

15 June 2018

20

Brigid M Regan

1 reference

15 June 2018

30

Bronwyn Kerr

1 reference

15 June 2018

70

Boris Keren

1 reference

15 June 2018

2

Candace T Myers

1 reference

15 June 2018

11

Sylvia Dobrzeniecka

1 reference

15 June 2018

85

Myriam Srour

1 reference

15 June 2018

89

Paola Diadori

1 reference

15 June 2018

7

Christina Nassif

1 reference

15 June 2018

Fadi F Hamdan

1

1 reference

15 June 2018

Philippe Lemay

4

1 reference

15 June 2018

Alexandre Dionne Laporte

6

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15 June 2018

Ousmane Diallo

8

1 reference

15 June 2018

Jean Monlong

9

1 reference

15 June 2018

Kyle Retterer

13

1 reference

15 June 2018

Megan T Cho

14

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15 June 2018

Jill A Rosenfeld

15

1 reference

15 June 2018

Weimin Bi

16

1 reference

15 June 2018

Marguerite Miguet

18

1 reference

15 June 2018

Ledia Brunga

19

1 reference

15 June 2018

Kelly Mo

21

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15 June 2018

Cory Tam

22

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15 June 2018

Amy Schneider

23

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15 June 2018

Georgie Hollingsworth

24

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15 June 2018

Alan Donaldson

27

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15 June 2018

Natalie Canham

28

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15 June 2018

Edward Blair

29

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15 June 2018

Andrew E Fry

31

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15 June 2018

Joss Shelagh

33

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15 June 2018

Jane A Hurst

34

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15 June 2018

Helen Brittain

35

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15 June 2018

Robert Roger Lebel

37

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15 June 2018

Erica H Gerkes

38

1 reference

15 June 2018

Laura Davis-Keppen

39

1 reference

15 June 2018

Quinn Stein

40

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15 June 2018

Wendy K Chung

41

1 reference

15 June 2018

Sara J Dorison

42

1 reference

15 June 2018

Paul J Benke

43

1 reference

15 June 2018

Emily Fassi

44

1 reference

15 June 2018

Nicole Corsten-Janssen

45

1 reference

15 June 2018

Erik-Jan Kamsteeg

46

1 reference

15 June 2018

Frederic T Mau-Them

47

1 reference

15 June 2018

Monica H Wojcik

51

1 reference

15 June 2018

Dara V F Albert

52

1 reference

15 June 2018

Sunita Venkateswaran

53

1 reference

15 June 2018

Tyson Ware

54

1 reference

15 June 2018

Dean Jones

55

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15 June 2018

Yu-Chi Liu

56

1 reference

15 June 2018

Shekeeb S Mohammad

57

1 reference

15 June 2018

Peyman Bizargity

58

1 reference

15 June 2018

Carlos A Bacino

59

1 reference

15 June 2018

Vincenzo Leuzzi

60

1 reference

15 June 2018

Simone Martinelli

61

1 reference

15 June 2018

Marco Tartaglia

63

1 reference

15 June 2018

Lubov Blumkin

64

1 reference

15 June 2018

Gabriela Purcarin

66

1 reference

15 June 2018

James J O'Byrne

67

1 reference

15 June 2018

Sylvia Stockler

68

1 reference

15 June 2018

Anna Lehman

69

1 reference

15 June 2018

Marie-Christine Nougues

71

1 reference

15 June 2018

Cyril Mignot

72

1 reference

15 June 2018

Stéphane Auvin

73

1 reference

15 June 2018

Susan M Hiatt

75

1 reference

15 June 2018

Martina Bebin

76

1 reference

15 June 2018

Yunru Shao

77

1 reference

15 June 2018

Fernando Scaglia

78

1 reference

15 June 2018

Seema R Lalani

79

1 reference

15 June 2018

Richard E Frye

80

1 reference

15 June 2018

Imad T Jarjour

81

1 reference

15 June 2018

Stéphanie Jacques

82

1 reference

15 June 2018

Renee-Myriam Boucher

83

1 reference

15 June 2018

Emilie Riou

84

1 reference

15 June 2018

Lionel Carmant

86

1 reference

15 June 2018

Anne Lortie

87

1 reference

15 June 2018

Philippe Major

88

1 reference

15 June 2018

François Dubeau

90

1 reference

15 June 2018

Guy D'Anjou

91

1 reference

15 June 2018

Ronald G Lafrenière

97

1 reference

15 June 2018

Cyrus Boelman

100

1 reference

15 June 2018

Danielle M Andrade

104

1 reference

15 June 2018

Berge A Minassian

106

1 reference

15 June 2018

language of work or name

English

0 references

publication date

1 November 2017

1 reference

15 June 2018

number of pages

22

1 reference

American Journal of Human Genetics

inferred from page(s)

published in

1 reference

15 June 2018

volume

101

1 reference

15 June 2018

issue

5

1 reference

15 June 2018

page(s)

664-685

1 reference

15 June 2018

The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

Prevalence and architecture of de novo mutations in developmental disorders

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

Reggie-1 and reggie-2 (flotillins) participate in Rab11a-dependent cargo trafficking, spine synapse formation and LTP-related AMPA receptor (GluA1) surface exposure in mouse hippocampal neurons

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

De novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

Analysis of protein-coding genetic variation in 60,706 humans

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

cis-Prenyltransferase: New Insights into Protein Glycosylation, Rubber Synthesis, and Human Diseases

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

Mutations in HECW2 are associated with intellectual disability and epilepsy

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

Parent-of-origin-specific signatures of de novo mutations

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2.

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

SNAP-25, a Known Presynaptic Protein with Emerging Postsynaptic Functions

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

Munc18-1 and the Syntaxin-1 N Terminus Regulate Open-Closed States in a t-SNARE Complex

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

Clinical application of whole-exome sequencing across clinical indications

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

Forty Years of Clathrin-coated Vesicles

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

Genomic variant annotation and prioritization with ANNOVAR and wANNOVAR.

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

Novel genetic causes for cerebral visual impairment

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

GeneMatcher: a matching tool for connecting investigators with an interest in the same gene

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

Epileptogenesis and epileptic maturation in phosphorylation site-specific SNAP-25 mutant mice

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

Genome-wide patterns and properties of de novo mutations in humans

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

A copy number variation map of the human genome

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

The contribution of de novo coding mutations to autism spectrum disorder

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

De novo mutations in moderate or severe intellectual disability

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

A framework for the interpretation of de novo mutation in human disease

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

Mutation in SNAP25 as a novel genetic cause of epilepsy and intellectual disability

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

LUMPY: a probabilistic framework for structural variant discovery.

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

Genome sequencing identifies major causes of severe intellectual disability

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

6q22.1 microdeletion and susceptibility to pediatric epilepsy.

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

BDNF-TrkB receptor regulation of distributed adult neural plasticity, memory formation, and psychiatric disorders

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

Neurotransmitter release: the last millisecond in the life of a synaptic vesicle

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

De novo mutations in epileptic encephalopathies

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

Rab11 proteins in health and disease

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

Epileptiform activity and cognitive deficits in SNAP-25(+/-) mice are normalized by antiepileptic drugs

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

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

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

Rate of de novo mutations and the importance of father's age to disease risk

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

Nogo-B receptor is necessary for cellular dolichol biosynthesis and protein N-glycosylation

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

Epilepsy and autism: neurodevelopmental perspective

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

Integrative genomics viewer

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

Molecular mechanisms of cognitive and behavioral comorbidities of epilepsy in children

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

Postsynaptic BDNF-TrkB signaling in synapse maturation, plasticity, and disease

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

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

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

Inactivation of clathrin heavy chain inhibits synaptic recycling but allows bulk membrane uptake

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

GABA(A) receptor trafficking and its role in the dynamic modulation of neuronal inhibition

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

Motor protein-dependent transport of AMPA receptors into spines during long-term potentiation

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

Effects of seizures on developmental processes in the immature brain

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

Structural basis for Rab11-dependent membrane recruitment of a family of Rab11-interacting protein 3 (FIP3)/Arfophilin-1

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

Structural basis for Rab11-mediated recruitment of FIP3 to recycling endosomes

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

A de novo mutation affecting human TrkB associated with severe obesity and developmental delay

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

Brain-derived neurotrophic factor regulates energy balance downstream of melanocortin-4 receptor

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

Crystal structure of cis-prenyl chain elongating enzyme, undecaprenyl diphosphate synthase

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

The metabotropic GABA receptor: molecular insights and their functional consequences

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

Varying Intolerance of Gene Pathways to Mutational Classes Explain Genetic Convergence across Neuropsychiatric Disorders.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

Identification of novel genetic causes of Rett syndrome-like phenotypes.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

Interpreting de novo Variation in Human Disease Using denovolyzeR.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

Large-scale discovery of novel genetic causes of developmental disorders

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

A novel variant in GABRB2 associated with intellectual disability and epilepsy.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

BDNF-dependent recycling facilitates TrkB translocation to postsynaptic density during LTP via a Rab11-dependent pathway.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

Diagnostic exome sequencing in persons with severe intellectual disability

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

Characterization of dehydrodolichyl diphosphate synthase gene in rainbow trout (Oncorhynchus mykiss).

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

Global cognitive function in children with epilepsy: a community-based study.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

The genetic landscape of infantile spasms

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673604

Epilepsy in school children with intellectual impairments in Sheffield: the size and nature of the problem and the implications for service provision

2 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29100083

12 December 2020

inferred from PubMed ID database lookup

CLTC as a clinically novel gene associated with multiple malformations and developmental delay

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29100083

12 December 2020

inferred from PubMed ID database lookup

Human copy number variants are enriched in regions of low mappability

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29100083

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1016/J.AJHG.2017.09.008

1 reference

15 June 2018

PMCID

5673604

1 reference

15 June 2018

PubMed ID

29100083

1 reference

15 June 2018