Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies (Q64043468)

39

Amy M Breman

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James R. Lupski

45

James R Lupski

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Christine M. Eng

43

Christine Eng

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Yaping Yang

44

Yaping Yang

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Dorothy K Grange

33

Dorothy Grange

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Louanne Hudgins

15

Louanne Hudgins

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Juanita Neira

2

Juanita Neira

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Hilde Van Esch

36

Hilde Van Esch

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Asbjørg Stray-Pedersen

20

Asbjørg Stray-Pedersen

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Davut Pehlivan

3

Davut Pehlivan

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Sau Wai Cheung

38

Sau Wai Cheung

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author name string

Bo Yuan

1

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Teresa Santiago-Sim

4

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Xiaofei Song

5

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Jill Rosenfeld

6

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Jennifer E Posey

7

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Vipulkumar Patel

8

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Weihong Jin

9

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Margaret P Adam

10

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Emma L Baple

11

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John Dean

12

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Chin-To Fong

13

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Scott E Hickey

14

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Eyby Leon

16

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Suneeta Madan-Khetarpal

17

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Lettie Rawlins

18

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Cecilie F Rustad

19

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Kristian Tveten

21

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Olivia Wenger

22

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Jullianne Diaz

23

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Laura Jenkins

24

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Laura Martin

25

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Marianne McGuire

26

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Marguerite Pietryga

27

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Linda Ramsdell

28

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Leah Slattery

29

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Farida Abid

31

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Alison A Bertuch

32

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LaDonna Immken

34

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Christian P Schaaf

35

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Weimin Bi

37

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Janice L Smith

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Andrew H Crosby

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Rui Xiao

46

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Pengfei Liu

https://scigraph.springernature.com/pub.10.1038/s41436-018-0085-6

47

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language of work or name

English

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publication date

March 2019

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published in

Genetics in Medicine

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volume

21

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issue

3

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page(s)

663-675

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exact match

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Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B

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NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome

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HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle

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Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation

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RAD21 mutations cause a human cohesinopathy

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X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations

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Cohesin-mediated interactions organize chromosomal domain architecture

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Mediator and cohesin connect gene expression and chromatin architecture

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CTCF physically links cohesin to chromatin

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The Mediator complex: a central integrator of transcription

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Polycomb purification by in vivo biotinylation tagging reveals cohesin and Trithorax group proteins as interaction partners

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Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin

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TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

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