(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

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

syndromic intellectual disability

26 April 2020

main subject

histone acetylation

0 references

intellectual disability

0 references

1 reference

disability affecting intellectual abilities

inferred from title

1 reference

2

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

Stephan J. Sanders

11

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

Christopher T Gordon

22

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

Magnus Nordenskjöld

30

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

Jaya Punetha

58

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

Anna Lindstrand

60

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

Annick Toutain

72

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

Jennifer E. Posey

99

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

Philippe M. Campeau

117

1 reference

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

Brigitte Gilbert-Dussardier

26 April 2020

105

Brigitte Gilbert-Dussardier

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

111

James R Lupski

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

110

Yaping Yang

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

29

Annapurna Poduri

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

113

Evan E Eichler

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

19

Usha Kini

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

84

Oana Caluseriu

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

35

Yuri A Zarate

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

7

Slavé Petrovski

1 reference

26 April 2020

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

Anne-Sophie Denommé-Pichon

100

Anne-Sophie Denommé-Pichon

1 reference

26 April 2020

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

Madeleine R Geisheker

46

Madeleine R Geisheker

1 reference

26 April 2020

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

115

Stéphane Bézieau

1 reference

26 April 2020

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

116

Sébastien Küry

1 reference

26 April 2020

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

77

Wallid Deb

1 reference

26 April 2020

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

39

Brina Daniels

1 reference

26 April 2020

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

34

Christian Gilissen

1 reference

26 April 2020

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

104

Jill A Rosenfeld

1 reference

26 April 2020

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

1

Benjamin Cogné

1 reference

26 April 2020

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

76

Xénia Latypova

1 reference

26 April 2020

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

32

Erica H Gerkes

1 reference

26 April 2020

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

73

Ingrid M Wentzensen

1 reference

26 April 2020

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

59

Rolph Pfundt

1 reference

26 April 2020

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

48

Jennifer M Tarpinian

1 reference

26 April 2020

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

5

Thomas Besnard

1 reference

26 April 2020

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

37

Kevin P Lally

1 reference

26 April 2020

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

Andres Hernandez-Garcia

40

Andres Hernandez-Garcia

1 reference

26 April 2020

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

author name string

Eliane Beauregard-Lacroix

3

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

Justine Rousseau

4

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

Thomas Garcia

6

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

Shiri Avni

8

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

Kirsty McWalter

9

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

Patrick R Blackburn

10

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

Kévin Uguen

12

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

Jacqueline Harris

13

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

Julie S Cohen

14

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

Moira Blyth

15

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

Anna Lehman

16

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

Jonathan Berg

17

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

Mindy H Li

18

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

Shelagh Joss

20

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

Charlotte von der Lippe

21

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

Jennifer B Humberson

23

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

Laurie Robak

24

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

Daryl A Scott

25

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

Vernon R Sutton

26

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

Cara M Skraban

27

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

Jennifer J Johnston

28

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

Vandana Shashi

31

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

Ernie M H F Bongers

33

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

Malin Kvarnung

36

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

Peggy A Kulch

38

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

Nicholas Stong

41

1 reference

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26 April 2020

Julie McGaughran

42

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

Kyle Retterer

43

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

Kristian Tveten

44

1 reference

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26 April 2020

Jennifer Sullivan

45

1 reference

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26 April 2020

Asbjorg Stray-Pedersen

47

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

Eric W Klee

49

1 reference

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26 April 2020

Julie C Sapp

50

1 reference

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26 April 2020

Jacob Zyskind

51

1 reference

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26 April 2020

Øystein L Holla

52

1 reference

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26 April 2020

Emma Bedoukian

53

1 reference

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26 April 2020

Francesca Filippini

54

1 reference

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26 April 2020

Anne Guimier

55

1 reference

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26 April 2020

Arnaud Picard

56

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

Øyvind L Busk

57

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

Fayth Kalb

62

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

Megha Desai

63

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

Ashley Harmon Ebanks

64

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

Shalini N Jhangiani

65

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

Tammie Dewan

66

1 reference

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26 April 2020

Zeynep H Coban Akdemir

67

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

Aida Telegrafi

68

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

Elaine H Zackai

69

1 reference

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26 April 2020

Amber Begtrup

70

1 reference

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26 April 2020

Xiaofei Song

71

1 reference

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26 April 2020

Sylvie Odent

74

1 reference

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26 April 2020

Dominique Bonneau

75

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

Sylvia Redon

79

1 reference

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26 April 2020

Frédéric Bilan

80

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

Marine Legendre

81

1 reference

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26 April 2020

Caitlin Troyer

82

1 reference

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26 April 2020

Kerri Whitlock

83

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

Marine I Murphree

85

1 reference

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26 April 2020

Pavel N Pichurin

86

1 reference

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26 April 2020

Katherine Agre

87

1 reference

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26 April 2020

Ralitza Gavrilova

88

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

Tuula Rinne

89

1 reference

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26 April 2020

Meredith Park

90

1 reference

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26 April 2020

Catherine Shain

91

1 reference

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26 April 2020

Erin L Heinzen

92

1 reference

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26 April 2020

Rui Xiao

93

1 reference

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26 April 2020

Jeanne Amiel

94

1 reference

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26 April 2020

Stanislas Lyonnet

95

1 reference

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26 April 2020

Bertrand Isidor

96

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

Dan Lowenstein

98

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

Claude Férec

102

1 reference

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26 April 2020

Xiang-Jiao Yang

103

1 reference

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26 April 2020

Séverine Audebert-Bellanger

106

1 reference

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26 April 2020

Richard Redon

107

1 reference

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26 April 2020

Holly A F Stessman

108

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

Christoffer Nellaker

109

1 reference

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26 April 2020

David B Goldstein

112

1 reference

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26 April 2020

Francois Bolduc

114

1 reference

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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

issue

3

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26 April 2020

page(s)

530-541

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

26 April 2020

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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Hdac6 regulates Tip60-p400 function in stem cells.

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

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

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

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

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Diagnostically relevant facial gestalt information from ordinary photos

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Post-translational modifications of histones that influence nucleosome dynamics

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Histone exchange, chromatin structure and the regulation of transcription

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The Phyre2 web portal for protein modeling, prediction and analysis

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

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

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Interpreting de novo Variation in Human Disease Using denovolyzeR.

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Exploring genomic alteration in pediatric cancer using ProteinPaint

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

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

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

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Lysine Acetylation and Deacetylation in Brain Development and Neuropathies

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Neurogenetic analysis of childhood disintegrative disorder

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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

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

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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.

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

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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