Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. (Q54295783)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

title

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Diana Chase

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Ghada M Abdel-Salam

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Cristina Cereda

39

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Michael Fahey

56

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Elisa Fazzi

57

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Jean-Pierre Lin

77

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Davide Tonduti

117

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Enza Maria Valente

118

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

William P Whitehouse

127

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Maha Zaki

129

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Adeline Vanderver

134

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Gillian I. Rice

136

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Guy Helman

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Roberta Battini

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Geneviève Bernard

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Christian G E L de Goede

49

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

BELEN PEREZ DUEÑAS

93

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Marlene Rio

99

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Tiong Y Tan

112

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Simona Orcesi

135

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

109

Kathryn J Swoboda

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

106

Ronen Spiegel

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

37

Manuel Castro-Gago

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

75

Roberta La Piana

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

14

Alec Aeby

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

40

Kate E Chandler

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

50

Corinne De Laet

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

60

Blanca Gener

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

61

Cyril Goizet

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

120

Marjo S van der Knaap

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

71

Lieven Lagae

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

80

Daphna R Marom

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

85

Marie-Laure Moutard

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

94

Julie S Prendiville

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

96

Magnhild Rasmussen

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

101

Agathe Roubertie

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

105

Doriette Soler

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

111

Uta Tacke

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

125

Evangeline Wassmer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

53

Isabelle Desguerre

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

6

Hannah L Gornall

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

72

Pierre Landrieu

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

54

Koenraad Devriendt

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

5

Gabriella M A Forte

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

4

Marcin Szynkiewicz

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

91

Ivana Olivieri

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

132

Flore Rozenberg

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

121

Grace Vassallo

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

41

David A Chitayat

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

21

Riyana Babul-Hirji

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

author name string

Johanna Lowenstein Schmidt

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Anthony Oojageer

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Beverley Anderson

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Amy Pizzino

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Mohamed S Abdel-Hamid

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Sam Ackroyd

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Guillermo Agosta

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Catherine Albin

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Stavit Allon-Shalev

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Montse Arellano

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Giada Ariaudo

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Vijay Aswani

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Eileen M Baildam

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Nadia Bahi-Buisson

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Kathryn M Bailey

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Christine Barnerias

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Magalie Barth

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Michael W Beresford

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Marika Bianchi

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Edward M Blair

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Miriam Bloom

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Alberto B Burlina

34

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Maria Luisa Carpanelli

35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Daniel R Carvalho

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Anna Cavallini

38

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Abigail E Collins

42

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Concepcion Sierra Corcoles

43

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Nuno J V Cordeiro

44

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Giovanni Crichiutti

45

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Lyvia Dabydeen

46

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Russell C Dale

47

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Stefano D'Arrigo

48

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Liesbeth M H De Waele

51

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Ines Denzler

52

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Maja Di Rocco

55

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Colin D Ferrie

58

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

António Figueiredo

59

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Nirmala R Gowrinathan

62

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Kalpana Gowrishankar

63

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Donncha Hanrahan

64

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Bertrand Isidor

65

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Bülent Kara

66

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Nasaim Khan

67

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Mary D King

68

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Edwin P Kirk

69

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Ram Kumar

70

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Heinz Lauffer

73

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Vincent Laugel

74

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Ming J Lim

76

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Tarja Linnankivi

78

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Mark T Mackay

79

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Charles Marques Lourenço

81

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Shane A McKee

82

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Jenny E V Morton

84

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Kevin Murray

86

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Rima Nabbout

87

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Sheela Nampoothiri

88

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Noemi Nunez-Enamorado

89

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Patrick J Oades

90

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

John R Ostergaard

92

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Venkateswaran Ramesh

95

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Luc Régal

97

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Federica Ricci

98

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Diana Rodriguez

100

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Elisabetta Salvatici

102

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Karin A Segers

103

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Gyanranjan P Sinha

104

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Tommy I Stödberg

107

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Rachel Straussberg

108

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Mohnish Suri

110

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Johann te Water Naude

113

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Keng Wee Teik

114

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Maya Mary Thomas

115

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Marianne Till

116

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Rudy Noel Van Coster

119

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Raymon Vijzelaar

122

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Julie Vogt

123

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Geoffrey B Wallace

124

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Hannah J Webb

126

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Robyn N Whitney

128

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Sameer M Zuberi

130

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

John H Livingston

131

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Pierre Lebon

133

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Thierry Billette de Villemeur

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Isabella Moroni

83

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

language of work or name

English

0 references

publication date

16 January 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

28 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

volume

167A

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

page(s)

296-312

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

Type I interferonopathies: mendelian type I interferon up-regulation

28 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4382202

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4382202

SAMHD1 is mutated recurrently in chronic lymphocytic leukemia and is involved in response to DNA damage.

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4382202

Rare variants in the TREX1 gene and susceptibility to autoimmune diseases

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4382202

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4382202

Therapies in Aicardi-Goutières syndrome.

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4382202

Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome.

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4382202

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4382202

Enzymatic removal of ribonucleotides from DNA is essential for mammalian genome integrity and development.

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4382202

Developing and validating the Communication Function Classification System for individuals with cerebral palsy.

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4382202

Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4382202

Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4382202

Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4382202

Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4382202

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4382202

Research electronic data capture (REDCap)--a metadata-driven methodology and workflow process for providing translational research informatics support

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4382202

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4382202

C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4382202

Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4382202

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4382202

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4382202

The Manual Ability Classification System (MACS) for children with cerebral palsy: scale development and evidence of validity and reliability.

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4382202

Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4382202

Familial systemic lupus erythematosus and congenital infection-like syndrome

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4382202

Development and reliability of a system to classify gross motor function in children with cerebral palsy

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4382202

The Aicardi-Goutières syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis).

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4382202

A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4382202

Intrathecal synthesis of interferon-alpha in infants with progressive familial encephalopathy.

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4382202

Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4382202

A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4382202

A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4382202

Dysregulation of the immune system in Aicardi-Goutières syndrome: another example in a TREX1-mutated patient.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4382202

Cerebrospinal fluid neopterin in paediatric neurology: a marker of active central nervous system inflammation

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4382202

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4382202

Congenital glaucoma and brain stem atrophy as features of Aicardi-Goutières syndrome.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4382202

Striking intrafamilial phenotypic variability in Aicardi-Goutières syndrome associated with the recurrent Asian founder mutation inRNASEH2C

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4382202

Systemic Lupus Erythematosus or Aicardi-Goutières Syndrome?

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4382202

Type I interferonopathies: a novel set of inborn errors of immunity

29 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.36887

Familial Aicardi-Goutières syndrome due toSAMHD1mutations is associated with chronic arthropathy and contractures

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.36887

Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.36887

Interferon and Aicardi-Goutières syndrome

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25604658

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/AJMG.A.36887

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604658%20AND%20SRC:MED&resulttype=core&format=json