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Growth and Development

Our group is dedicated to paediatric research. We are interested in rare respiratory and endocrinological diseases, and also in common paediatric problems such as normal growth, asthma, neonatal pathology and imaging diagnosis, as well as minority diseases. Our goal is to transfer the findings of clinical and genetic studies to the widespread clinical practice and the general population, with the long-term objective of obtaining better diagnoses, implementing better therapeutic practices and improving the health of children.

Our group is part of CIBERER (Biomedical Research Networking Centre on Rare Diseases) (CIBERER U712) and European Reference Networks (ERN) for rare diseases ERN LUNG and Endo-ERN.

Publications

Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization.

PMID: 35012964
Journal: NEUROLOGY
Year: 2022
Reference: Neurology. 2022 Mar 1;98(9):e912-e923. doi: 10.1212/WNL.0000000000013278. Epub 2022 Jan 10.
Impact factor: 9.91
Publication type: Paper in international publication
Authors: Giros, Marisa, Schluter, Agatha, Rodriguez-Palmero, Agusti, Verdura, Edgard, Velez-Santamaria, Valentina, Ruiz, Montserrat, Fourcade, Stephane, Planas-Serra, Laura, Martinez, Juan Jose, Guilera, Cristina et al.
DOI: 10.1212/WNL.0000000000013278

Therapy options for adrenal insufficiency and recommendations for the management of adrenal crisis.

PMID: 33661460
Journal: ENDOCRINE
Year: 2021
Reference: Endocrine. 2021 Mar;71(3):586-594. doi: 10.1007/s12020-021-02649-6. Epub 2021 Mar 4.
Impact factor: 3.633
Publication type: Review in international publication
Authors: Lajic, Svetlana, Nowotny, Hanna, Ahmed, S Faisal, Bensing, Sophie, Beun, Johan G, Brosamle, Manuela, Chifu, Irina, Claahsen van der Grinten, Hedi, Clemente, Maria, Falhammar, Henrik et al.
DOI: 10.1007/s12020-021-02649-6

Defining key outcomes to evaluate performance of newborn screening programmes for cystic fibrosis.

PMID: 33637432
Journal: Journal of Cystic Fibrosis
Year: 2021
Reference: J Cyst Fibros. 2021 Sep;20(5):820-823. doi: 10.1016/j.jcf.2021.02.006. Epub 2021 Feb 23.
Impact factor: 5.482
Publication type: Letter whit IF
Authors: Munck, Anne, Southern, Kevin W, Castellani, Carlo, de Winter-de Groot, Karin M, Gartner, Silvia, Kashirskaya, Nataliya, Linnane, Barry, Mayell, Sarah J, Proesmans, Marijke, Sands, Dorota et al.
DOI: 10.1016/j.jcf.2021.02.006

Omalizumab outcomes for up to 6 years in pediatric patients with severe persistent allergic asthma.

PMID: 33619748
Journal: PEDIATRIC ALLERGY AND IMMUNOLOGY
Year: 2021
Reference: Pediatr Allergy Immunol. 2021 Jul;32(5):980-991. doi: 10.1111/pai.13484. Epub 2021 Mar 20.
Impact factor: 6.377
Publication type: Paper in international publication
Authors: Valdesoiro Navarrete, Laura, Ballester Asensio, Esther, Sanz Santiago, Veronica, Romero Garcia, Raquel, Gimeno Diaz de Atauri, Alvaro, Valenzuela Soria, Alfredo, Sanchez Mateos, Mercedes, Batlles Garrido, Jose, Andres Martin, Anselmo, Campos Alonso, Elena et al.
DOI: 10.1111/pai.13484

FARS1-related disorders caused by bi-allelic mutations in cytosolic phenylalanyl- tRNA synthetase genes: look beyond the lungs!

PMID: 33598926
Journal: CLINICAL GENETICS
Year: 2021
Reference: Clin Genet. 2021 Jun;99(6):789-801. doi: 10.1111/cge.13943. Epub 2021 Feb 28.
Impact factor: 4.438
Publication type: Paper in international publication
Authors: Rapp Christina, K, Li, Yang, Smith Desiree, E C, Mendes Marisa, I, Delhommel, Florent, Sattler, Michael, Emiralioglu, Nagehan, Taskiran Ekim, Z, Orhan, Diclehan, Kiper, Nural et al.
DOI: 10.1111/cge.13943

Blog

News

The study, in which Vall d'Hebron participates, helps to understand the variability among patients with retinitis pigmentosa.

Es va reconèixer la tasca de més de 70 professionals dedicades a aquesta malaltia pulmonar, tant assistencial com de recerca.

The two studies awarded has been the research for a the ciliary dyskinesia diagnosis led by the VHIR’s Growth and Development Group and the EPISCAN II, in which Dr. Miravitlles has participated.