(Q37342092)

19 August 2017

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype (English)

1 reference

19 August 2017

1 reference

32

Alexander Hoischen

1 reference

19 August 2017

Undiagnosed Diseases Network

13

object named as

Undiagnosed Diseases Network

1 reference

19 August 2017

Vandana Shashi

1

1 reference

19 August 2017

Loren D M Pena

2

1 reference

19 August 2017

Katherine Kim

3

1 reference

19 August 2017

Barbara Burton

4

1 reference

19 August 2017

Maja Hempel

5

1 reference

19 August 2017

Kelly Schoch

6

1 reference

19 August 2017

Magdalena Walkiewicz

7

1 reference

19 August 2017

Heather M McLaughlin

8

1 reference

19 August 2017

Megan Cho

9

1 reference

19 August 2017

Nicholas Stong

10

1 reference

19 August 2017

Scott E Hickey

11

1 reference

19 August 2017

Christine M Shuss

12

1 reference

19 August 2017

Michael S Freemark

14

1 reference

19 August 2017

Jane S Bellet

15

1 reference

19 August 2017

Martha Ann Keels

16

1 reference

19 August 2017

Melanie J Bonner

17

1 reference

19 August 2017

Maysantoine El-Dairi

18

1 reference

19 August 2017

Megan Butler

19

1 reference

19 August 2017

Peter G Kranz

20

1 reference

19 August 2017

Constance T R M Stumpel

21

1 reference

19 August 2017

Sylvia Klinkenberg

22

1 reference

19 August 2017

Karin Oberndorff

23

1 reference

19 August 2017

Malik Alawi

24

1 reference

19 August 2017

Rene Santer

25

1 reference

19 August 2017

Slavé Petrovski

26

1 reference

19 August 2017

Outi Kuismin

27

1 reference

19 August 2017

Satu Korpi-Heikkilä

28

1 reference

19 August 2017

Olli Pietilainen

29

1 reference

19 August 2017

Palotie Aarno

30

1 reference

19 August 2017

Mitja I Kurki

31

1 reference

19 August 2017

Anna C Need

33

1 reference

19 August 2017

David B Goldstein

34

1 reference

19 August 2017

Fanny Kortüm

35

1 reference

19 August 2017

language of work or name

English

0 references

publication date

24 September 2016

1 reference

American Journal of Human Genetics

19 August 2017

1 reference

19 August 2017

99

1 reference

19 August 2017

4

1 reference

19 August 2017

991-999

1 reference

Analysis of protein-coding genetic variation in 60,706 humans

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065681

Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065681

Cancer-associated ASXL1 mutations may act as gain-of-function mutations of the ASXL1-BAP1 complex

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065681

ASXL2 Regulates Glucose, Lipid, and Skeletal Homeostasis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065681

Functional proteomics of the epigenetic regulators ASXL1, ASXL2 and ASXL3: a convergence of proteomics and epigenetics for translational medicine

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065681

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065681

Synaptic, transcriptional and chromatin genes disrupted in autism

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065681

Molecular findings among patients referred for clinical whole-exome sequencing

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065681

ASXL genes and RUNX1: an intimate connection?

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065681

WTIP interacts with ASXL2 and blocks ASXL2-mediated activation of retinoic acid signaling

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065681

Trimmomatic: a flexible trimmer for Illumina sequence data

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065681

Reciprocal regulation of LXRα activity by ASXL1 and ASXL2 in lipogenesis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065681

Functional and cancer genomics of ASXL family members

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065681

Expanding our knowledge of conditions associated with the ASXL gene family

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065681

De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065681

Maintenance of adult cardiac function requires the chromatin factor Asxl2

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065681

A systematic survey of loss-of-function variants in human protein-coding genes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065681

Mouse genome-wide association and systems genetics identify Asxl2 as a regulator of bone mineral density and osteoclastogenesis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065681

Additional sex comb-like (ASXL) proteins 1 and 2 play opposite roles in adipogenesis via reciprocal regulation of peroxisome proliferator-activated receptor {gamma}

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065681

Functional conservation of Asxl2, a murine homolog for the Drosophila enhancer of trithorax and polycomb group gene Asx

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065681

Identification and characterization of ASXL3 gene in silico.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065681

A human homolog of Additional sex combs, ADDITIONAL SEX COMBS-LIKE 1, maps to chromosome 20q11

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065681

Severe end of Opitz trigonocephaly (C) syndrome or new syndrome?

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065681

GeneMatcher: a matching tool for connecting investigators with an interest in the same gene

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065681

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065681

Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065681

Penetrance of pathogenic mutations in haploinsufficient genes for intellectual disability and related disorders.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065681

Interpreting de novo Variation in Human Disease Using denovolyzeR.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065681

Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065681

Diagnostic exome sequencing in persons with severe intellectual disability

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065681

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065681

Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065681

2 September 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/27693232

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2016.08.017

1 reference

19 August 2017

1 reference

19 August 2017

PubMed publication ID

27693232

1 reference