Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation (Q29144895)

4 April 2017

title

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

1 reference

Bromodomain and PHD finger containing 1

4 April 2017

main subject

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histone acetyltransferase activity (H3-K23 specific)

GOA release 2020-03-11

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Bromodomain and PHD finger containing, 1

GOA release 2020-03-11

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syndromic intellectual disability

GOA release 2020-03-11

intellectual disability

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based on heuristic

inferred from title

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disability affecting intellectual abilities

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based on heuristic

inferred from title

author

Rebecca Okashah Littlejohn

object named as

Rebecca Okashah Littlejohn

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Margaret McKinnon

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Anna Lehman

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Philippe M. Campeau

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Kezhi Yan

1 reference

4 April 2017

Justine Rousseau

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4 April 2017

Rebecca Okashah Littlejohn

1 reference

4 April 2017

Courtney Kiss

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4 April 2017

Jill A. Rosenfeld

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4 April 2017

Constance T. R. Stumpel

1 reference

4 April 2017

Alexander P. A. Stegmann

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4 April 2017

Laurie Robak

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4 April 2017

Fernando Scaglia

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4 April 2017

Thi Tuyet Mai Nguyen

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4 April 2017

He Fu

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4 April 2017

Norbert F. Ajeawung

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4 April 2017

Maria Vittoria Camurri

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4 April 2017

Lin Li

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4 April 2017

Alice Gardham

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4 April 2017

Bianca Panis

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4 April 2017

Mohammed Almannai

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4 April 2017

Maria J. Guillen Sacoto

1 reference

4 April 2017

Berivan Baskin

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4 April 2017

Claudia Ruivenkamp

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4 April 2017

Fan Xia

1 reference

4 April 2017

Weimin Bi

1 reference

4 April 2017

DDD Study

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4 April 2017

CAUSES Study

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4 April 2017

Megan T. Cho

1 reference

4 April 2017

Thomas P. Potjer

1 reference

4 April 2017

Gijs W. E. Santen

1 reference

4 April 2017

Michael J. Parker

1 reference

4 April 2017

Natalie Canham

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4 April 2017

Lorraine Potocki

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4 April 2017

Jennifer J. MacKenzie

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4 April 2017

Elizabeth R. Roeder

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4 April 2017

Xiang-Jiao Yang

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4 April 2017

language of work or name

English

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publication date

5 January 2017

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American Journal of Human Genetics

4 April 2017

published in

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4 April 2017

volume

100

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4 April 2017

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4 April 2017

page(s)

91–104

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De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms

4 April 2017

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3 June 2018

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3 June 2018

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3 June 2018

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3 June 2018

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3 June 2018

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3 June 2018

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3 June 2018

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3 June 2018

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3 June 2018

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3 June 2018

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3 June 2018

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3 June 2018

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3 June 2018

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3 June 2018

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3 June 2018

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3 June 2018

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3 June 2018

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3 June 2018

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3 June 2018

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26 November 2018

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26 November 2018

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26 November 2018

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26 November 2018

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10.1016/J.AJHG.2016.11.011

26 November 2018

Identifiers

DOI

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4 April 2017

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