(Q52137495)

22 April 2018

title

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

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22 April 2018

neurodevelopmental disorder

main subject

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18

Jane Juusola

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22 April 2018

author name string

Francisca Millan

1

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22 April 2018

Megan T Cho

2

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22 April 2018

Kyle Retterer

3

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22 April 2018

Kristin G Monaghan

4

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22 April 2018

Renkui Bai

5

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22 April 2018

Patrik Vitazka

6

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22 April 2018

David B Everman

7

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22 April 2018

Brooke Smith

8

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22 April 2018

Brad Angle

9

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22 April 2018

Victoria Roberts

10

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22 April 2018

LaDonna Immken

11

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22 April 2018

Honey Nagakura

12

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22 April 2018

Marc DiFazio

13

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22 April 2018

Elliott Sherr

14

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22 April 2018

Eden Haverfield

15

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22 April 2018

Bethany Friedman

16

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22 April 2018

Aida Telegrafi

17

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22 April 2018

Wendy K Chung

19

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22 April 2018

Sherri Bale

20

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22 April 2018

language of work or name

English

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publication date

2 May 2016

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22 April 2018

American Journal of Medical Genetics

published in

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22 April 2018

volume

170

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22 April 2018

page(s)

1791-1798

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22 April 2018

issue

7

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22 April 2018

An integrated map of genetic variation from 1,092 human genomes

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1 reference

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21 January 2018

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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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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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

21 January 2018

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

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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De novo mutations in histone-modifying genes in congenital heart disease.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.37670

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.37670

1 reference

22 April 2018

PubMed ID

27133397

1 reference

22 April 2018