Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability (Q64114493)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30827496%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

title

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability (English)

1 reference

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syndromic intellectual disability

26 April 2020

main subject

histone acetylation

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intellectual disability

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1 reference

disability affecting intellectual abilities

inferred from title

1 reference

2

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26 April 2020

Stephan J. Sanders

11

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26 April 2020

Christopher T Gordon

22

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26 April 2020

Magnus Nordenskjöld

30

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26 April 2020

Jaya Punetha

58

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26 April 2020

Anna Lindstrand

60

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26 April 2020

Annick Toutain

72

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26 April 2020

Jennifer E. Posey

99

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26 April 2020

Philippe M. Campeau

117

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Brigitte Gilbert-Dussardier

26 April 2020

105

Brigitte Gilbert-Dussardier

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26 April 2020

111

James R Lupski

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26 April 2020

110

Yaping Yang

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26 April 2020

29

Annapurna Poduri

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26 April 2020

113

Evan E Eichler

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26 April 2020

19

Usha Kini

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26 April 2020

84

Oana Caluseriu

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26 April 2020

35

Yuri A Zarate

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26 April 2020

7

Slavé Petrovski

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Anne-Sophie Denommé-Pichon

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Anne-Sophie Denommé-Pichon

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26 April 2020

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Madeleine R Geisheker

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Madeleine R Geisheker

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Stéphane Bézieau

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26 April 2020

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Sébastien Küry

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26 April 2020

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77

Wallid Deb

1 reference

26 April 2020

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39

Brina Daniels

1 reference

26 April 2020

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34

Christian Gilissen

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26 April 2020

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Jill A Rosenfeld

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26 April 2020

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1

Benjamin Cogné

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26 April 2020

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Xénia Latypova

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26 April 2020

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Erica H Gerkes

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26 April 2020

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Ingrid M Wentzensen

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26 April 2020

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Rolph Pfundt

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26 April 2020

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Jennifer M Tarpinian

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26 April 2020

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5

Thomas Besnard

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26 April 2020

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Kevin P Lally

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Andres Hernandez-Garcia

40

Andres Hernandez-Garcia

1 reference

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author name string

Eliane Beauregard-Lacroix

3

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26 April 2020

Justine Rousseau

4

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26 April 2020

Thomas Garcia

6

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26 April 2020

Shiri Avni

8

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26 April 2020

Kirsty McWalter

9

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26 April 2020

Patrick R Blackburn

10

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26 April 2020

Kévin Uguen

12

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26 April 2020

Jacqueline Harris

13

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26 April 2020

Julie S Cohen

14

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26 April 2020

Moira Blyth

15

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26 April 2020

Anna Lehman

16

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26 April 2020

Jonathan Berg

17

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26 April 2020

Mindy H Li

18

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26 April 2020

Shelagh Joss

20

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26 April 2020

Charlotte von der Lippe

21

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26 April 2020

Jennifer B Humberson

23

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26 April 2020

Laurie Robak

24

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26 April 2020

Daryl A Scott

25

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26 April 2020

Vernon R Sutton

26

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26 April 2020

Cara M Skraban

27

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26 April 2020

Jennifer J Johnston

28

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26 April 2020

Vandana Shashi

31

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26 April 2020

Ernie M H F Bongers

33

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26 April 2020

Malin Kvarnung

36

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26 April 2020

Peggy A Kulch

38

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26 April 2020

Nicholas Stong

41

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26 April 2020

Julie McGaughran

42

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26 April 2020

Kyle Retterer

43

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26 April 2020

Kristian Tveten

44

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26 April 2020

Jennifer Sullivan

45

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26 April 2020

Asbjorg Stray-Pedersen

47

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26 April 2020

Eric W Klee

49

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26 April 2020

Julie C Sapp

50

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26 April 2020

Jacob Zyskind

51

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26 April 2020

Øystein L Holla

52

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26 April 2020

Emma Bedoukian

53

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26 April 2020

Francesca Filippini

54

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26 April 2020

Anne Guimier

55

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26 April 2020

Arnaud Picard

56

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26 April 2020

Øyvind L Busk

57

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26 April 2020

Fayth Kalb

62

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26 April 2020

Megha Desai

63

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26 April 2020

Ashley Harmon Ebanks

64

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26 April 2020

Shalini N Jhangiani

65

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26 April 2020

Tammie Dewan

66

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26 April 2020

Zeynep H Coban Akdemir

67

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26 April 2020

Aida Telegrafi

68

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26 April 2020

Elaine H Zackai

69

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26 April 2020

Amber Begtrup

70

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26 April 2020

Xiaofei Song

71

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26 April 2020

Sylvie Odent

74

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26 April 2020

Dominique Bonneau

75

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26 April 2020

Sylvia Redon

79

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26 April 2020

Frédéric Bilan

80

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26 April 2020

Marine Legendre

81

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26 April 2020

Caitlin Troyer

82

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26 April 2020

Kerri Whitlock

83

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26 April 2020

Marine I Murphree

85

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26 April 2020

Pavel N Pichurin

86

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26 April 2020

Katherine Agre

87

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26 April 2020

Ralitza Gavrilova

88

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26 April 2020

Tuula Rinne

89

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26 April 2020

Meredith Park

90

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26 April 2020

Catherine Shain

91

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26 April 2020

Erin L Heinzen

92

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26 April 2020

Rui Xiao

93

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26 April 2020

Jeanne Amiel

94

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26 April 2020

Stanislas Lyonnet

95

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26 April 2020

Bertrand Isidor

96

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26 April 2020

Dan Lowenstein

98

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26 April 2020

Claude Férec

102

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26 April 2020

Xiang-Jiao Yang

103

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26 April 2020

Séverine Audebert-Bellanger

106

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26 April 2020

Richard Redon

107

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26 April 2020

Holly A F Stessman

108

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26 April 2020

Christoffer Nellaker

109

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26 April 2020

David B Goldstein

112

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26 April 2020

Francois Bolduc

114

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26 April 2020

Ann Nordgren

61

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26 April 2020

CAUSES Study

78

1 reference

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26 April 2020

Leslie G Biesecker

97

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26 April 2020

Deciphering Developmental Disorders study

101

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26 April 2020

language of work or name

English

0 references

publication date

28 February 2019

1 reference

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American Journal of Human Genetics

26 April 2020

published in

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26 April 2020

volume

104

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26 April 2020

page(s)

530-541

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26 April 2020

issue

3

1 reference

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The novel ATM-related protein TRRAP is an essential cofactor for the c-Myc and E2F oncoproteins

26 April 2020

cites work

1 reference

12 December 2020

The 400 kDa subunit of the PCAF histone acetylase complex belongs to the ATM superfamily

1 reference

12 December 2020

1 reference

12 December 2020

Disruption of Trrap causes early embryonic lethality and defects in cell cycle progression

1 reference

12 December 2020

Regulating histone acetyltransferases and deacetylases

1 reference

12 December 2020

A new class of C. elegans synMuv genes implicates a Tip60/NuA4-like HAT complex as a negative regulator of Ras signaling

1 reference

12 December 2020

UCSF Chimera--a visualization system for exploratory research and analysis

1 reference

12 December 2020

Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease

1 reference

12 December 2020

Nipped-A, the Tra1/TRRAP subunit of the Drosophila SAGA and Tip60 complexes, has multiple roles in Notch signaling during wing development

1 reference

12 December 2020

Evidence implicating BRD1 with brain development and susceptibility to both schizophrenia and bipolar affective disorder

1 reference

12 December 2020

Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300.

1 reference

12 December 2020

Genome-wide array-based comparative genomic hybridization analysis of pancreatic adenocarcinoma: identification of genetic indicators that predict patient outcome

1 reference

12 December 2020

Orchestration of chromatin-based processes: mind the TRRAP.

1 reference

12 December 2020

An RNAi screen of chromatin proteins identifies Tip60-p400 as a regulator of embryonic stem cell identity.

1 reference

12 December 2020

Catalysis and substrate selection by histone/protein lysine acetyltransferases

1 reference

12 December 2020

HAT cofactor TRRAP mediates beta-catenin ubiquitination on the chromatin and the regulation of the canonical Wnt pathway.

1 reference

12 December 2020

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

1 reference

12 December 2020

An RNAi screen identifies TRRAP as a regulator of brain tumor-initiating cell differentiation.

1 reference

12 December 2020

A method and server for predicting damaging missense mutations

1 reference

12 December 2020

Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH.

1 reference

12 December 2020

Domains of Tra1 important for activator recruitment and transcription coactivator functions of SAGA and NuA4 complexes.

1 reference

12 December 2020

Exome sequencing identifies GRIN2A as frequently mutated in melanoma

1 reference

12 December 2020

Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome

1 reference

12 December 2020

AutismKB: an evidence-based knowledgebase of autism genetics.

1 reference

12 December 2020

Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome

1 reference

12 December 2020

De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals

1 reference

12 December 2020

Histone acetyltransferase cofactor Trrap maintains self-renewal and restricts differentiation of embryonic stem cells.

1 reference

12 December 2020

Histone modifications and DNA double-strand break repair after exposure to ionizing radiations

1 reference

12 December 2020

De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome

1 reference

12 December 2020

HDAC9 is implicated in schizophrenia and expressed specifically in post-mitotic neurons but not in adult neural stem cells

1 reference

12 December 2020

Hdac6 regulates Tip60-p400 function in stem cells.

1 reference

12 December 2020

Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene.

1 reference

12 December 2020

A general framework for estimating the relative pathogenicity of human genetic variants

1 reference

12 December 2020

Trrap-dependent histone acetylation specifically regulates cell-cycle gene transcription to control neural progenitor fate decisions.

1 reference

12 December 2020

Loss-of-function variants in schizophrenia risk and SETD1A as a candidate susceptibility gene

1 reference

12 December 2020

Diagnostically relevant facial gestalt information from ordinary photos

1 reference

12 December 2020

Post-translational modifications of histones that influence nucleosome dynamics

1 reference

12 December 2020

Histone exchange, chromatin structure and the regulation of transcription

1 reference

12 December 2020

The Phyre2 web portal for protein modeling, prediction and analysis

1 reference

12 December 2020

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

1 reference

12 December 2020

A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing

1 reference

12 December 2020

Interpreting de novo Variation in Human Disease Using denovolyzeR.

1 reference

12 December 2020

Exploring genomic alteration in pediatric cancer using ProteinPaint

1 reference

12 December 2020

Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder.

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation

1 reference

12 December 2020

Lysine Acetylation and Deacetylation in Brain Development and Neuropathies

1 reference

12 December 2020

Neurogenetic analysis of childhood disintegrative disorder

1 reference

12 December 2020

KAT-Independent Gene Regulation by Tip60 Promotes ESC Self-Renewal but Not Pluripotency

1 reference

12 December 2020

Novel Causative Variants in DYRK1A, KARS, and KAT6A Associated with Intellectual Disability and Additional Phenotypic Features

1 reference

12 December 2020

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.

1 reference

12 December 2020

Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes.

1 reference

12 December 2020

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.

1 reference

12 December 2020

Enhanced MYC association with the NuA4 histone acetyltransferase complex mediated by the adenovirus E1A N-terminal domain activates a subset of MYC target genes highly expressed in cancer cells.

1 reference

12 December 2020

TRRAP is essential for regulating the accumulation of mutant and wild-type p53 in lymphoma

1 reference

12 December 2020

10.1016/J.AJHG.2019.01.010

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30827496%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

1 reference

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26 April 2020

1 reference