A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype-Reference-Cited by-同舟云学术

A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype

Published:2016-04-13 Issue:8 Volume:53 Page:523-532
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

Beunders Gea,van de Kamp Jiddeke,Vasudevan Pradeep,Morton Jenny,Smets Katrien,Kleefstra Tjitske,de Munnik Sonja A,Schuurs-Hoeijmakers Janneke,Ceulemans Berten,Zollino Marcella,Hoffjan Sabine,Wieczorek Stefan,So Joyce,Mercer Leanne,Walker Tanya,Velsher Lea,Parker Michael J,Magee Alex C,Elffers Bart,Kooy R Frank^ORCID,Yntema Helger G,Meijers-Heijboer Elizabeth J,Sistermans Erik A,

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference29 articles.

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2. Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus;Beunders;Am J Hum Genet,2013

3. Genome-wide distribution of Auts2 binding localizes with active neurodevelopmental genes;Oksenberg;Transl Psychiatry,2014

4. An AUTS2-Polycomb complex activates gene expression in the CNS;Gao;Nature,2014

5. Cytoskeletal regulation by AUTS2 in neuronal migration and neuritogenesis;Hori;Cell Rep,2014

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1. RING1 missense variants reveal sensitivity of DNA damage repair to H2A monoubiquitination dosage during neurogenesis;Nature Communications;2024-09-10

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3. Navigating the complexity of Polycomb repression: Enzymatic cores and regulatory modules;Molecular Cell;2024-08

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