(Q35993050)

English

Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours (English)

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

1 reference

based on heuristic

inferred from title

William T. Gibson

6

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26302956%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

7

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26302956%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

author name string

Sarah F Barclay

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26302956%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Casey M Rand

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26302956%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Lauren A Borch

3

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26302956%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Lisa Nguyen

4

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26302956%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Paul A Gray

5

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26302956%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Paul M K Gordon

8

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26302956%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Zaw Aung

9

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26302956%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Elizabeth M Berry-Kravis

10

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26302956%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Diego Ize-Ludlow

11

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26302956%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Debra E Weese-Mayer

12

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26302956%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

N Torben Bech-Hansen

13

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26302956%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

publication date

25 August 2015

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Orphanet Journal of Rare Diseases

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26302956%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

10

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26302956%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

103

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26302956%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4548308

2 October 2017

From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4548308

2 October 2017

FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4548308

2 October 2017

A general framework for estimating the relative pathogenicity of human genetic variants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4548308

2 October 2017

DeNovoGear: de novo indel and point mutation discovery and phasing.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4548308

2 October 2017

Bellerophon: a hybrid method for detecting interchromosomal rearrangements at base pair resolution using next-generation sequencing data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4548308

2 October 2017

FishingCNV: a graphical software package for detecting rare copy number variations in exome-sequencing data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4548308

2 October 2017

An integrated map of genetic variation from 1,092 human genomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4548308

2 October 2017

Primer-BLAST: a tool to design target-specific primers for polymerase chain reaction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4548308

2 October 2017

Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4548308

2 October 2017

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4548308

2 October 2017

Mutations in EZH2 cause Weaver syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4548308

2 October 2017

A mosaic activating mutation in AKT1 associated with the Proteus syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4548308

2 October 2017

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4548308

2 October 2017

Integrative genomics viewer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4548308

2 October 2017

Cyclophosphamide for Rapid-Onset Obesity, Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4548308

2 October 2017

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4548308

2 October 2017

A method and server for predicting damaging missense mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4548308

2 October 2017

An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4548308

2 October 2017

Rate, molecular spectrum, and consequences of human mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4548308

2 October 2017

The transcriptional regulation and cell-specific expression of the MAPK-activated protein kinase MK5.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4548308

2 October 2017

Fast and accurate short read alignment with Burrows-Wheeler transform

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4548308

2 October 2017

Ultrafast and memory-efficient alignment of short DNA sequences to the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4548308

2 October 2017

Endocrine manifestations of the rapid-onset obesity with hypoventilation, hypothalamic, autonomic dysregulation, and neural tumor syndrome in childhood

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4548308

2 October 2017

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation presenting in childhood

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4548308

2 October 2017

Beckwith-Wiedemann syndrome demonstrates a role for epigenetic control of normal development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4548308

2 October 2017

NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4548308

2 October 2017

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) syndrome may have a hypothalamus-periaqueductal gray localization.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4548308

23 September 2018

Monozygotic Twins Discordant for ROHHAD Phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4548308

23 September 2018

A case of late-onset central hypoventilation syndrome with hypothalamic dysfunction: through a new phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4548308

23 September 2018

Delineation of Late Onset Hypoventilation Associated with Hypothalamic Dysfunction Syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4548308

23 September 2018

PRIMARY ALVEOLAR HYPOVENTILATION SYNDROME (ONDINE'S CURSE).

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4548308

23 September 2018

https://api.crossref.org/works/10.1186%2FS13023-015-0314-X

21 January 2018

Idiopathic hypothalamic dysfunction: a paraneoplastic syndrome?

1 reference

https://api.crossref.org/works/10.1186%2FS13023-015-0314-X

21 January 2018

Intrathecal synthesis of oligoclonal bands in rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome: new evidence supporting immunological pathogenesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/26302956

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hypothalamic dysfunction associated with neuroblastoma: evidence for a new Paraneoplastic syndrome?

1 reference

https://pubmed.ncbi.nlm.nih.gov/26302956

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation: analysis of hypothalamic and autonomic candidate genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/26302956

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/S13023-015-0314-X

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26302956%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Dimensions Publication ID

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PMC publication ID

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26302956%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26302956%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

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