Nonsense variants in STAG2 result in distinct sex-dependent phenotypes (Q91597602)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30765867%20AND%20SRC:MED&resulttype=core&format=json

23 April 2020

retracted paper

2 references

Dataset for "Continued use of retracted papers: Temporal trends in citations and (lack of) awareness of retractions shown in citation contexts in biomedicine"

Continued use of retracted papers: Temporal trends in citations and (lack of) awareness of retractions shown in citation contexts in biomedicine

title

Nonsense variants in STAG2 result in distinct sex-dependent phenotypes (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30765867%20AND%20SRC:MED&resulttype=core&format=json

23 April 2020

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30765867%20AND%20SRC:MED&resulttype=core&format=json

23 April 2020

Kazuhiro Iwama

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30765867%20AND%20SRC:MED&resulttype=core&format=json

23 April 2020

Yuri Uchiyama

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30765867%20AND%20SRC:MED&resulttype=core&format=json

23 April 2020

author name string

Hiromi Aoi

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30765867%20AND%20SRC:MED&resulttype=core&format=json

23 April 2020

Ming Lei

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30765867%20AND%20SRC:MED&resulttype=core&format=json

23 April 2020

Takeshi Mizuguchi

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30765867%20AND%20SRC:MED&resulttype=core&format=json

23 April 2020

Nobuko Nishioka

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30765867%20AND%20SRC:MED&resulttype=core&format=json

23 April 2020

Tomohide Goto

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30765867%20AND%20SRC:MED&resulttype=core&format=json

23 April 2020

Sahoko Miyama

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30765867%20AND%20SRC:MED&resulttype=core&format=json

23 April 2020

Satomi Mitsuhashi

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30765867%20AND%20SRC:MED&resulttype=core&format=json

23 April 2020

Atsuo Itakura

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30765867%20AND%20SRC:MED&resulttype=core&format=json

23 April 2020

Satoru Takeda

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30765867%20AND%20SRC:MED&resulttype=core&format=json

23 April 2020

Naomichi Matsumoto

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30765867%20AND%20SRC:MED&resulttype=core&format=json

23 April 2020

publication date

14 February 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30765867%20AND%20SRC:MED&resulttype=core&format=json

Journal of Human Genetics

23 April 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30765867%20AND%20SRC:MED&resulttype=core&format=json

23 April 2020

volume

64

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30765867%20AND%20SRC:MED&resulttype=core&format=json

23 April 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30765867%20AND%20SRC:MED&resulttype=core&format=json

23 April 2020

page(s)

487-492

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30765867%20AND%20SRC:MED&resulttype=core&format=json

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

23 April 2020

cites work

1 reference

https://api.crossref.org/works/10.1038%2FS10038-019-0571-Y

7 January 2021

Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy.

1 reference

https://api.crossref.org/works/10.1038%2FS10038-019-0571-Y

7 January 2021

RAD21 mutations cause a human cohesinopathy

1 reference

https://api.crossref.org/works/10.1038%2FS10038-019-0571-Y

7 January 2021

Could a patient with SMC1A duplication be classified as a human cohesinopathy?

1 reference

https://api.crossref.org/works/10.1038%2FS10038-019-0571-Y

7 January 2021

Increased burden of de novo predicted deleterious variants in complex congenital diaphragmatic hernia

1 reference

https://api.crossref.org/works/10.1038%2FS10038-019-0571-Y

7 January 2021

Microduplication of chromosome Xq25 encompassing STAG2 gene in a boy with intellectual disability

1 reference

https://api.crossref.org/works/10.1038%2FS10038-019-0571-Y

7 January 2021

De novo loss-of-function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies.

1 reference

https://api.crossref.org/works/10.1038%2FS10038-019-0571-Y

7 January 2021

Mutations in STAG2 cause an X-linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males.

1 reference

https://api.crossref.org/works/10.1038%2FS10038-019-0571-Y

7 January 2021

Familial STAG2 germline mutation defines a new human cohesinopathy

1 reference

https://api.crossref.org/works/10.1038%2FS10038-019-0571-Y

7 January 2021

A novel SLC9A1 mutation causes cerebellar ataxia

1 reference

https://api.crossref.org/works/10.1038%2FS10038-019-0571-Y

7 January 2021

Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth

1 reference

https://api.crossref.org/works/10.1038%2FS10038-019-0571-Y

7 January 2021

Accurate and exact CNV identification from targeted high-throughput sequence data

1 reference

https://api.crossref.org/works/10.1038%2FS10038-019-0571-Y

7 January 2021

X chromosome-inactivation patterns of 1,005 phenotypically unaffected females

1 reference

https://api.crossref.org/works/10.1038%2FS10038-019-0571-Y

7 January 2021

10.1038/S10038-019-0571-Y

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30765867%20AND%20SRC:MED&resulttype=core&format=json

23 April 2020

1 reference