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Employment (3)

Hospital Universitari Germans Trias i Pujol: Badalona, Catalunya, ES

2019-12-31 to present | Lab Technician (Servei Genòmica Clinica)
Employment
Source: Self-asserted source
Inma Rosas

Fundació Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol: Badalona, Catalunya, ES

2009-09-14 to 2019-12-30 | Técnico de Laboratorio (Unidad de Diagnóstico Génetico del Cáncer Hereditario (UDGCH-IMPPC))
Employment
Source: Self-asserted source
Inma Rosas

Merck España: Barcelona, Barcelona, ES

2001-02-01 to 2008-01-07 | Técnico de Laboratorio (Bioinvestigación)
Employment
Source: Self-asserted source
Inma Rosas

Education and qualifications (2)

Centro de Formación Profesional Alfonso X: Villanueva de la Cañada, Madrid, ES

2020-09-01 to 2022-06-29 | Técnico Superior en Laboratorio Clínico y Biomédico
Qualification
Source: Self-asserted source
Inma Rosas

IES La Guineueta: Barcelona, Catalunya, ES

1997-06-23 | Tecnico especialista en Anatomia Patológica
Qualification
Source: Self-asserted source
Inma Rosas

Professional activities (1)

Hospital Universitari Germans Trias i Pujol: Badalona, Catalunya, ES

2019-12-31 to present (Clinical Genomics Unit, Clinical Genetics Service, Northern Metropolitan Clinical Laboratory)
Membership
Source: Self-asserted source
Inma Rosas

Works (13)

Unbalancing cAMP and Ras/MAPK pathways as a therapeutic strategy for cutaneous neurofibromas

JCI Insight
2024-01-04 | Journal article
DOI: 10.1172/jci.insight.168826
Part of ISSN: 2379-3708
Contributors: Helena Mazuelas; Miriam Magallon-Lorenz, PhD; Itziar Uriarte-Arrazola; Alejandro Negro; Inma Rosas; Ignacio Blanco; Elisabeth Castellanos; CONXI LAZARO GARCIA; Bernat Gel; Meritxell Carrio et al.
Source: Self-asserted source
Inma Rosas

Antisense oligonucleotides targeting exon 11 are able to partially rescue the NF2-related schwannomatosis phenotype in vitro

Molecular Therapy - Nucleic Acids
2022-12 | Journal article
DOI: 10.1016/j.omtn.2022.10.026
Part of ISSN: 2162-2531
Contributors: Núria Catasús; Inma Rosas; Sandra Bonache; Alex Negro; Miguel Torres-Martin; Adrià Plana-Pla; Hector Salvador; Eduard Serra; Ignacio Blanco; Elisabeth Castellanos
Source: Self-asserted source
Inma Rosas

Unbalancing cAMP and Ras/MAPK pathways as a therapeutic strategy for cutaneous neurofibromas

2022-12-23 | Preprint
DOI: 10.1101/2022.12.23.521754
Contributors: Helena Mazuelas; Míriam Magallón-Lorenz; Itziar Uriarte-Arrázola; Alejandro Negro; Inma Rosas; Ignacio Blanco; Elisabeth Castellanos; Conxi Lázaro; Bernat Gel; Meritxell Carrió et al.
Source: check_circle
Crossref

Revisiting the UK Genetic Severity Score for NF2: a proposal for the addition of a functional genetic component

Journal of Medical Genetics
2022-07 | Journal article | Author
DOI: 10.1136/jmedgenet-2020-107548
Part of ISSN: 0022-2593
Part of ISSN: 1468-6244
Contributors: Núria Catasús; Belen Garcia; Iván Galván-Femenía; Adrià Plana; Alejandro Negro; Inma Rosas; Andrea Ros; Emilio Amilibia; Juan Luis Becerra; Cristina Hostalot et al.
Source: Self-asserted source
Inma Rosas
grade
Preferred source (of 2)‎

Neurofibromatosis type 1 families with first-degree relatives harbouring distinct <i>NF1</i> pathogenic variants. Genetic counselling and familial diagnosis: what should be offered?

Journal of Medical Genetics
2022-02-04 | Journal article
DOI: 10.1136/jmedgenet-2021-108301
Part of ISSN: 0022-2593
Part of ISSN: 1468-6244
Source: Self-asserted source
Inma Rosas
grade
Preferred source (of 2)‎

Using antisense oligonucleotides for the physiological modulation of the alternative splicing of NF1 exon 23a during PC12 neuronal differentiation

Scientific Reports
2021-02-11 | Journal article
DOI: 10.1038/s41598-021-83152-w
Part of ISSN: 2045-2322
Contributors: Josep Biayna; Helena Mazuelas; Bernat Gel; Ernest Terribas; Gabrijela Dumbovic; Inma Rosas; Juana Fernández-Rodriguez; Ignacio Blanco; Elisabeth Castellanos; Meritxell Carrió et al.
Source: Self-asserted source
Inma Rosas

Mutational spectrum by phenotype: panel‐based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café‐au‐lait macules

Clinical Genetics
2020-02 | Journal article
DOI: 10.1111/cge.13649
Part of ISSN: 0009-9163
Part of ISSN: 1399-0004
Source: Self-asserted source
Inma Rosas

Reprogramming Captures the Genetic and Tumorigenic Properties of Neurofibromatosis Type 1 Plexiform Neurofibromas

Stem Cell Reports
2019-02 | Journal article
DOI: 10.1016/j.stemcr.2019.01.001
Part of ISSN: 2213-6711
Source: Self-asserted source
Inma Rosas

Analysis of intratumor heterogeneity in Neurofibromatosis type 1 plexiform neurofibromas and neurofibromas with atypical features: Correlating histological and genomic findings

Human Mutation
2018-08 | Journal article
DOI: 10.1002/humu.23552
Part of ISSN: 1059-7794
Source: Self-asserted source
Inma Rosas

Early Genetic Diagnosis of Neurofibromatosis Type 2 From Skin Plaque Plexiform Schwannomas in Childhood

JAMA Dermatology
2018-03-01 | Journal article
DOI: 10.1001/jamadermatol.2017.5464
Part of ISSN: 2168-6068
Source: Self-asserted source
Inma Rosas

A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape.

Scientific reports
2017-01-04 | Journal article
DOI: 10.1038/srep39348
PMID: 28051113
PMC: PMC5209725
Source: Self-asserted source
Inma Rosas

Segmental neurofibromatosis type 2: discriminating two hit from four hit in a patient presenting multiple schwannomas confined to one limb.

BMC medical genomics
2015-01-24 | Journal article
DOI: 10.1186/s12920-015-0076-2
PMID: 25739810
PMC: PMC4310195
Source: Self-asserted source
Inma Rosas

In vitro antisense therapeutics for a deep intronic mutation causing Neurofibromatosis type 2

European Journal of Human Genetics
2013-07 | Journal article
DOI: 10.1038/ejhg.2012.261
Part of ISSN: 1018-4813
Part of ISSN: 1476-5438
Source: Self-asserted source
Inma Rosas
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