A view on clinical genetics and genomics in Spain: of challenges and opportunities (Q37101212)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27468414 AND SRC:MED&resulttype=core&format=json

19 March 2020

title

A view on clinical genetics and genomics in Spain: of challenges and opportunities (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27468414 AND SRC:MED&resulttype=core&format=json

19 March 2020

0 references

Teresa Pàmpols

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27468414 AND SRC:MED&resulttype=core&format=json

19 March 2020

Feliciano J Ramos

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27468414 AND SRC:MED&resulttype=core&format=json

19 March 2020

Ignasi Gozalo-Salellas

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27468414 AND SRC:MED&resulttype=core&format=json

19 March 2020

Luis A Pérez-Jurado

series ordinal

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27468414 AND SRC:MED&resulttype=core&format=json

19 March 2020

publication date

18 July 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27468414 AND SRC:MED&resulttype=core&format=json

Molecular genetics & genomic medicine

19 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27468414 AND SRC:MED&resulttype=core&format=json

19 March 2020

volume

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27468414 AND SRC:MED&resulttype=core&format=json

19 March 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27468414 AND SRC:MED&resulttype=core&format=json

19 March 2020

page(s)

376-391

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27468414 AND SRC:MED&resulttype=core&format=json

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders

19 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947857

The Mutational Landscape of Acute Promyelocytic Leukemia Reveals an Interacting Network of Co-Occurrences and Recurrent Mutations

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947857

267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947857

Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947857

Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q10 content

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947857

Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947857

Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947857

Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947857

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947857

Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947857

Informed consent for whole-genome sequencing studies in the clinical setting. Proposed recommendations on essential content and process

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947857

Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947857

14 September 2017

Genomics for the world

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947857

Genetic education and the challenge of genomic medicine: development of core competences to support preparation of health professionals in Europe

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947857

Genes mirror geography within Europe

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947857

Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947857

NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947857

A founder EIF2AK4 mutation causes an aggressive form of pulmonary arterial hypertension in Iberian Gypsies.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947857

uPAR-controlled oncolytic adenoviruses eliminate cancer stem cells in human pancreatic tumors

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947857

High risk of medium chain acyl-coenzyme A dehydrogenase deficiency among gypsies

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947857

Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947857

Targeted gene therapy and cell reprogramming in Fanconi anemia

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947857

Spanish changes are scientific suicide

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947857

Detection of a paternally inherited fetal mutation in maternal plasma by the use of automated sequencing.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947857

Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947857

The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947857

Safe and Efficient Gene Therapy for Pyruvate Kinase Deficiency

3 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002/MGG3.232

A 2.5-year snapshot of Mendelian discovery

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002/MGG3.232

[The ethical aspects of population screening programme of rare diseases]

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947857

High carrier frequency of the 35delG deafness mutation in European populations

4 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947857

Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: molecular survey by regions

4 December 2018

1 reference

12 December 2020

Spain's science policy needs a U-turn

1 reference

12 December 2020

A call to those who care about Europe’s science

1 reference

12 December 2020

Cystic fibrosis in Spain: high frequency of mutation G542X in the Mediterranean coastal area

1 reference

12 December 2020

Genetic services in Spain

1 reference

12 December 2020

[Population-based congenital birth defect registries in Spain]

1 reference

12 December 2020

Identifiers

DOI

10.1002/MGG3.232

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27468414 AND SRC:MED&resulttype=core&format=json

19 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27468414 AND SRC:MED&resulttype=core&format=json

19 March 2020

PubMed publication ID

27468414

1 reference