(Q37640927)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

title

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

0 references

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Catarina M Seabra

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Fowzan S Alkuraya

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Kwame Anyane-Yeboa

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Bert Callewaert

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Colby Chiang

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Dezso David

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

David R. FitzPatrick

44

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Daniela Giachino

46

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Joseph Glessner

47

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Brett H Graham

50

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Jerôme P Korzelius

72

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Giorgia Mandrile

87

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Patrick Rump

119

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Samantha LP Schilit

120

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Sarah Vergult

134

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Cynthia Morton

147

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Michael E. Talkowski

149

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

121

Ranad Shaheen

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

6

Jennelle C Hodge

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

143

Han G Brunner

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

94

Björn Menten

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

71

David A Koolen

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

148

James F Gusella

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

128

Bregje W van Bon

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

7

Carrie Hanscom

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

129

Jiddeke van de Kamp

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

52

Karen W Gripp

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

24

Ian Blumenthal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

106

Shahrin Pereira

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Vamsee K Pillalamarri

8

object named as

Vamsee Pillalamarri

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

86

Poornima Manavalan

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

2

Harrison Brand

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

84

Diane Lucente

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

88

Carlo L Marcelis

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

25

Ernie M H F Bongers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

144

Nicole de Leeuw

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

58

Ron Hochstenbach

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

34

Benjamin B Currall

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

4

Tammy Kammin

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

59

Jodi D Hoffman

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

74

Yves Lacassie

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

37

Matthew A Deardorff

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

103

Zehra Ordulu

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

53

Andrea L Gropman

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

78

Alex V Levin

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

1

Claire Redin

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

5

Elyse Mitchell

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

45

Pamela Gerrol

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

66

Sandra Janssens

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

85

Michael J Macera

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

123

Erica Spiegel

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

124

Blair Stevens

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

Conny M A van Ravenswaaij-Arts

27 March 2020

132

object named as

Conny M van Ravenswaaij-Arts

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

142

Brynn Levy

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

73

Peter M Kroisel

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

62

A Micheil Innes

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

40

Bert B A de Vries

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

63

Mira Irons

1 reference

27 March 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

18

Caroline Antolik

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

author name string

Mary-Alice Abbott

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Omar A Abdul-Rahman

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Erika Aberg

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Rhett Adley

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Sofia L Alcaraz-Estrada

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Yu An

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Mary-Anne Anderson

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Joan F Atkin

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Tina Bartell

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Jonathan A Bernstein

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Elizabeth Beyer

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Eva H Brilstra

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Chester W Brown

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Hennie T Brüggenwirth

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Ken Corning

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Helen Cox

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Edwin Cuppen

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Tom Cushing

35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Annelies Dheedene

38

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Marc D'Hooghe

39

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Dawn L Earl

41

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Heather L Ferguson

42

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Heather Fisher

43

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Troy Gliem

48

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Margo Grady

49

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Cristin Griffis

51

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Andrea Hanson-Kahn

54

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

David J Harris

55

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Mark A Hayden

56

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Rosamund Hill

57

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Robert J Hopkin

60

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Monika W Hubshman

61

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Melita Irving

64

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Jessie C Jacobsen

65

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Tamison Jewett

67

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

John P Johnson

68

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Marjolijn C Jongmans

69

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Stephen G Kahler

70

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

William Lawless

75

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Emmanuelle Lemyre

76

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Kathleen Leppig

77

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Haibo Li

79

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Hong Li

80

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Eric C Liao

81

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Cynthia Lim

82

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Edward J Lose

83

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Lauren Margolin

89

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Tamara Mason

90

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Diane Masser-Frye

91

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Michael W McClellan

92

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Cinthya J Zepeda Mendoza

93

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Sjors Middelkamp

95

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Liya R Mikami

96

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Emily Moe

97

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Shehla Mohammed

98

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Tarja Mononen

99

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Megan E Mortenson

100

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Graciela Moya

101

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Aggie W Nieuwint

102

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Sandhya Parkash

104

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Susan P Pauker

105

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Danielle Perrin

107

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Katy Phelan

108

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Raul E Piña Aguilar

109

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Pino J Poddighe

110

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Giulia Pregno

111

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Salmo Raskin

112

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Linda Reis

113

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

William Rhead

114

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Debra Rita

115

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Ivo Renkens

116

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Filip Roelens

117

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Jayla Ruliera

118

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Rebecca Sparkes

122

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Matthew R Stone

125

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Julia Tagoe

126

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Joseph V Thakuria

127

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Ineke van Der Burgt

130

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Ton van Essen

131

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Markus J van Roosmalen

133

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Catharina M L Volker-Touw

135

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Dorothy P Warburton

136

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Matthew J Waterman

137

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Susan Wiley

138

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Anna Wilson

139

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Maria de la Concepcion A Yerena-de Vega

140

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Roberto T Zori

141

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Wigard P Kloosterman

145

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Erik C Thorland

146

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

language of work or name

English

0 references

publication date

14 November 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

volume

49

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

page(s)

36-45

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/ng.3720

27 March 2020

exact match

0 references

cites work

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

Breaking TADs: How Alterations of Chromatin Domains Result in Disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

ClinVar: public archive of interpretations of clinically relevant variants

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

Loss of δ-catenin function in severe autism

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

Sambamba: fast processing of NGS alignment formats.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

HPOSim: an R package for phenotypic similarity measure and enrichment analysis based on the human phenotype ontology

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

A 3D map of the human genome at kilobase resolution reveals principles of chromatin looping

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

Resolving the complexity of the human genome using single-molecule sequencing

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

The contribution of de novo coding mutations to autism spectrum disorder

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

Synaptic, transcriptional and chromatin genes disrupted in autism

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

Deletions of chromosomal regulatory boundaries are associated with congenital disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

Drosophila Syncrip modulates the expression of mRNAs encoding key synaptic proteins required for morphology at the neuromuscular junction

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

Design of large-insert jumping libraries for structural variant detection using Illumina sequencing

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

An atlas of active enhancers across human cell types and tissues

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

Detection of chromosomal breakpoints in patients with developmental delay and speech disorders

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

A polygenic burden of rare disruptive mutations in schizophrenia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

De novo mutations in schizophrenia implicate synaptic networks

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

Reconstructing complex regions of genomes using long-read sequencing technology

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

A high-resolution map of the three-dimensional chromatin interactome in human cells

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

Genic intolerance to functional variation and the interpretation of personal genomes

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

Punctuated evolution of prostate cancer genomes

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

Phenotypic impact of genomic structural variation: insights from and for human disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

FMRP targets distinct mRNA sequence elements to regulate protein expression

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

Clinical diagnosis by whole-genome sequencing of a prenatal sample

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

An anatomically comprehensive atlas of the adult human brain transcriptome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

An informatics approach to analyzing the incidentalome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

Landscape of transcription in human cells

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

De Novo Gene Disruptions in Children on the Autistic Spectrum

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

Topological domains in mammalian genomes identified by analysis of chromatin interactions

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

Massive genomic rearrangement acquired in a single catastrophic event during cancer development

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

Clinical diagnostics in human genetics with semantic similarity searches in ontologies

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

Circos: an information aesthetic for comparative genomics

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

Fast and accurate short read alignment with Burrows-Wheeler transform

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

Structural variation of chromosomes in autism spectrum disorder

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

The morbid anatomy of the human genome: chromosomal location of mutations causing disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

A cytogenetic survey of 11,680 newborn infants

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

Mental retardation associated with "balanced" chromosome rearrangements

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

A 2.0 Mb microdeletion in proximal chromosome 14q12, involving regulatory elements of FOXG1, with the coding region of FOXG1 being unaffected, results in severe developmental delay, microcephaly, and hypoplasia of the corpus callosum

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

Juicebox Provides a Visualization System for Hi-C Contact Maps with Unlimited Zoom

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

Current Techniques in Chromosome Analysis

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

Formation of new chromatin domains determines pathogenicity of genomic duplications

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

Neurodevelopmental disorders associated with dosage imbalance of ZBTB20 correlate with the morbidity spectrum of ZBTB20 candidate target genes.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

Enhancer-adoption as a mechanism of human developmental disease.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

14q12 Microdeletion syndrome and congenital variant of Rett syndrome.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

Two patients with balanced translocations and autistic disorder: CSMD3 as a candidate gene for autism found in their common 8q23 breakpoint area.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

Prevalence of chromosomal abnormalities in phenotypically normal and fertile adult males: large-scale survey of over 10,000 sperm donor karyotypes.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

A note on the calculation of empirical P values from Monte Carlo procedures.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307971

ICF syndrome with variable expression in sibs

1 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.3720

De novo 5q14.3 translocation 121.5-kb upstream of MEF2C in a patient with severe intellectual disability and early-onset epileptic encephalopathy

21 January 2018

1 reference

12 December 2020

Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline†

1 reference

12 December 2020

Dysregulation of FOXG1 pathway in a 14q12 microdeletion case

1 reference

12 December 2020

Cancer genomes evolve by pulverizing single chromosomes

1 reference

12 December 2020

Identifiers

DOI

10.1038/NG.3720

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27841880%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

1 reference