(Q28270890)

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Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features

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Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features (English)

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1 reference

based on heuristic

inferred from title

7

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Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26656649%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Jessica X. Chong

1

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26656649%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Peter Lorentzen

3

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26656649%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

4

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26656649%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

6

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26656649%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Margarita Sifuentes Saenz

8

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Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26656649%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Deborah A Nickerson

11

object named as

Deborah A Nickerson

1 reference

Europe PubMed Central

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9 June 2020

author name string

Joon-Ho Yu

2

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26656649%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Seema M Jamal

5

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26656649%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Karynne E Patterson

10

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26656649%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Michael J Bamshad

12

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26656649%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Eugen Boltshauser

9

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Europe PubMed Central

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9 June 2020

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publication date

August 2016

0 references

Genetics in Medicine

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26656649%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

18

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26656649%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

8

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26656649%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

788-795

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26656649%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

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20 March 2017

The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease

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20 March 2017

De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome

1 reference

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20 March 2017

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

1 reference

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20 March 2017

Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia

1 reference

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20 March 2017

Histone demethylases in development and disease

1 reference

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20 March 2017

Histone demethylase LSD1 is required to induce skeletal muscle differentiation by regulating myogenic factors

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20 March 2017

Alternative splicing of the histone demethylase LSD1/KDM1 contributes to the modulation of neurite morphogenesis in the mammalian nervous system

1 reference

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20 March 2017

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

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20 March 2017

Opposing LSD1 complexes function in developmental gene activation and repression programmes

1 reference

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20 March 2017

Histone demethylation mediated by the nuclear amine oxidase homolog LSD1

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20 March 2017

Regulation of neuronal traits by a novel transcriptional complex

1 reference

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20 March 2017

The Matchmaker Exchange: a platform for rare disease gene discovery

1 reference

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20 March 2017

Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHER

1 reference

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20 March 2017

GenomeConnect: matchmaking between patients, clinical laboratories, and researchers to improve genomic knowledge

1 reference

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20 March 2017

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20 March 2017

Guidelines for investigating causality of sequence variants in human disease

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20 March 2017

A framework for the interpretation of de novo mutation in human disease

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6 April 2017

Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway

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6 April 2017

Evolution and functional impact of rare coding variation from deep sequencing of human exomes

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7 April 2017

Mitigating false-positive associations in rare disease gene discovery

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29 September 2017

Participant-driven matchmaking in the genomic era.

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29 September 2017

PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases

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29 September 2017

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

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29 September 2017

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.

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29 September 2017

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1 reference

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29 September 2017

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

The shifting model in clinical diagnostics: how next-generation sequencing and families are altering the way rare diseases are discovered, studied, and treated

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29 September 2017

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29 September 2017

A hypomorphic lsd1 allele results in heart development defects in mice

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29 September 2017

PatientsLikeMe the case for a data-centered patient community and how ALS patients use the community to inform treatment decisions and manage pulmonary health

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29 September 2017

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29 September 2017

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1 reference

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2 June 2018

KBG syndrome: report of twins, neurological characteristics, and delineation of diagnostic criteria.

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21 January 2018

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21 January 2018

Identifiers

10.1038/GIM.2015.161

2 references

Consolidated OpenCitations Corpus – April 2017

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Europe PubMed Central

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9 June 2020

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Consolidated OpenCitations Corpus – April 2017

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PMC publication ID

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26656649%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

PubMed publication ID

2 references

Consolidated OpenCitations Corpus – April 2017

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26656649%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

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