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Five years' experience of the clinical exome sequencing in a Spanish single center

Scientific reports, 2022-11, Vol.12 (1), p.19209-19209, Article 19209

2022

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Sanger sequencing is no longer always necessary based on a single-center validation of 1109 NGS variants in 825 clinical exomes

Scientific reports, 2021-03, Vol.11 (1), p.5697-5697, Article 5697

2021

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NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases

Human genetics, 2021-12, Vol.140 (12), p.1665-1678

2021

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Fibrodysplasia ossificans progressiva in Spain: epidemiological, clinical, and genetic aspects

Bone (New York, N.Y.), 2012-10, Vol.51 (4), p.748-755

2012

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Prenatal diagnosis of Huntington disease in maternal plasma: direct and indirect study

European journal of neurology, 2008-12, Vol.15 (12), p.1338-1344

2008

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Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations

Neuromuscular disorders : NMD, 2016-02, Vol.26 (2), p.153-159

2016

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The first COL7A1 mutation survey in a large Spanish dystrophic epidermolysis bullosa cohort: c.6527insC disclosed as an unusually recurrent mutation

British journal of dermatology (1951), 2010-07, Vol.163 (1), p.155-161

2010

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Foetal sex determination in maternal blood from the seventh week of gestation and its role in diagnosing haemophilia in the foetuses of female carriers

Haemophilia : the official journal of the World Federation of Hemophilia, 2008-05, Vol.14 (3), p.593-598

2008

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Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants

British journal of ophthalmology, 2009-05, Vol.93 (5), p.614-621

2009

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Genetic diagnosis of epidermolysis bullosa: recommendations from an expert Spanish research group

Actas dermo-sifiliográficas (English ed.), 2018-03, Vol.109 (2), p.104-122

2018

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Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases

Neurologia (Barcelona, Spain), 2017-07, Vol.32 (6), p.377

2017

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Recessive dystrophic epidermolysis bullosa: the origin of the c.6527insC mutation in the Spanish population

British journal of dermatology (1951), 2013-01, Vol.168 (1), p.226-229

2013

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Nine-year experience in Gaucher disease diagnosis at the Spanish reference center Fundación Jiménez Díaz

Molecular genetics and metabolism reports, 2016-12, Vol.9, p.79-85

2016

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Prenatal diagnosis of skeletal dysplasia due to FGFR3 gene mutations: a 9-year experience: Prenatal diagnosis in FGFR3 gene

Journal of assisted reproduction and genetics, 2009-08, Vol.26 (8), p.455-460

2009

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Gene symbol: CRB1

Human genetics, 2007-04, Vol.121 (2), p.287-288

2007

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Gene symbol: RP2

Human genetics, 2007-04, Vol.121 (2), p.289-289

2007

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Gene symbol: CRB1. Disease: Leber congenital amaurosis. Accession #Hd0510

Human genetics, 2006-02, Vol.118 (6), p.774-774

2006

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Gene symbol: CRB1

Human genetics, 2007-02, Vol.120 (6), p.914-914

2007

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New approach for the refinement of the location of the X‐chromosome breakpoint in a previously described female patient with choroideremia carrying a X;4 translocation

American journal of medical genetics. Part A, 2005-11, Vol.138A (4), p.365-368

2005

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Clinical and molecular diagnostics of a cartilage-hair hypoplasia: Two new cases

Anales de pediatría (Barcelona, Spain : 2003), 2015-06, Vol.82 (6), p.436

2015

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El diagnóstico clínico-molecular en la hipoplasia de cartílago-pelo: dos nuevos casos

Anales de pediatría (Barcelona, Spain : 2003), 2015-06, Vol.82 (6), p.436-439

2015

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Case report: identical twins revealing discordant hypodontia. The rationale of dental arch differences in monozygotic twins

European archives of paediatric dentistry, 2011-12, Vol.12 (6), p.318-322

2011

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Gene symbol: CRB1. Disease: early onset retinitis pigmentosa

Human genetics, 2006-07, Vol.119 (6), p.681-681

2006

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Prenatal diagnosis of 46, XX male fetus

Journal of assisted reproduction and genetics, 2006-05, Vol.23 (5), p.253-254

2006

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Gene symbol: RS1. Disease: X-linked juvenile retinoschisis

Human genetics, 2005-12, Vol.118 (3-4), p.534-534

2005

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Five years' experience of the clinical exome sequencing in a Spanish single center

Sanger sequencing is no longer always necessary based on a single-center validation of 1109 NGS variants in 825 clinical exomes

NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases

Fibrodysplasia ossificans progressiva in Spain: epidemiological, clinical, and genetic aspects

Prenatal diagnosis of Huntington disease in maternal plasma: direct and indirect study

Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations

The first COL7A1 mutation survey in a large Spanish dystrophic epidermolysis bullosa cohort: c.6527insC disclosed as an unusually recurrent mutation

Foetal sex determination in maternal blood from the seventh week of gestation and its role in diagnosing haemophilia in the foetuses of female carriers

Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants

Genetic diagnosis of epidermolysis bullosa: recommendations from an expert Spanish research group

Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases

Recessive dystrophic epidermolysis bullosa: the origin of the c.6527insC mutation in the Spanish population

Nine-year experience in Gaucher disease diagnosis at the Spanish reference center Fundación Jiménez Díaz

Prenatal diagnosis of skeletal dysplasia due to FGFR3 gene mutations: a 9-year experience: Prenatal diagnosis in FGFR3 gene

Gene symbol: CRB1

Gene symbol: RP2

Gene symbol: CRB1. Disease: Leber congenital amaurosis. Accession #Hd0510

Gene symbol: CRB1

New approach for the refinement of the location of the X‐chromosome breakpoint in a previously described female patient with choroideremia carrying a X;4 translocation

Clinical and molecular diagnostics of a cartilage-hair hypoplasia: Two new cases

El diagnóstico clínico-molecular en la hipoplasia de cartílago-pelo: dos nuevos casos

Case report: identical twins revealing discordant hypodontia. The rationale of dental arch differences in monozygotic twins

Gene symbol: CRB1. Disease: early onset retinitis pigmentosa

Prenatal diagnosis of 46, XX male fetus

Gene symbol: RS1. Disease: X-linked juvenile retinoschisis

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