Investigación Epidemiológica en Enfermedades Raras

Towards Harmonized Biobanking for Biomonitoring: A Comparison of Human Biomonitoring-Related and Clinical Biorepositories. Biopreserv Biobank. 2020 Apr;18(2):122-135

Lermen D, Gwinner F, Bartel-Steinbach M, Mueller SC, Habermann JK, Balwir MB, Smits E, Virgolino A, Fiddicke U, Berglund M, Åkesson A, Bergstrom A, Leander K, Horvat M, Snoj Tratnik J, Posada de la Paz M, Castaño Calvo A, Esteban López M, von Briesen H, Zimmermann H, Kolossa-Gehring M.

PUBMED DOI

Explaining Age at Autism Spectrum Diagnosis in Children with Migrant and Non-Migrant Background in Austria. Brain Sci. 2020 Jul 14;10(7):448

Garcia-Primo P, Weber C, Posada de la Paz M, Fellinger J, Dirmhirn A, Holzinger D.

PUBMED DOI

Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity. J Mol Diagn. 2020 Sep;22(9):1205-1215

Matalonga L, Laurie S, Papakonstantinou A, Piscia D, Mereu E, Bullich G, Thompson R, Horvath R, Pérez-Jurado L, Riess O, Gut I, van Ommen GJ, Lochmüller H, Beltran S; RD–Connect Genome-Phenome Analysis Platform and URD-Cat Data Contributors.

PUBMED DOI

Early Detection, Diagnosis and Intervention Services for Young Children with Autism Spectrum Disorder in the European Union (ASDEU): Family and Professional Perspectives. J Autism Dev Disord. 2020 Sep;50(9):3380-3394

Bejarano-Martín Á, Canal-Bedia R, Magán-Maganto M, Fernández-Álvarez C, Cilleros-Martín MV, Sánchez-Gómez MC, García-Primo P, Rose-Sweeney M, Boilson A, Linertová R, Roeyers H, Van der Paelt S, Schendel D, Warberg C, Cramer S, Narzisi A, Muratori F, Scattoni ML, Moilanen I, Yliherva A, Saemundsen E, Loa Jónsdóttir S, Efrim-Budisteanu M, Arghir A, Papuc SM, Vicente A, Rasga C, Rogé B, Guillon Q, Baduel S, Kafka JX, Poustka L, Kothgassner OD, Kawa R, Pisula E, Sellers T, Posada de la Paz M.

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The ASDEU autism prevalence study in northern Spain. Eur Child Adolesc Psychiatry. 2021 Apr;30(4):579-589

Fuentes J, Basurko A, Isasa I, Galende I, Muguerza MD, García-Primo P, García J, Fernández-Álvarez CJ, Canal-Bedia R, Posada de la Paz M.

PUBMED DOI

Solving unsolved rare neurological diseases-a Solve-RD viewpoint. Eur J Hum Genet. 2021 Sep;29(9):1332-1336

Schüle R, Timmann D, Erasmus CE, Reichbauer J, Wayand M; Solve-RD-DITF-RND; van de Warrenburg B, Schöls L, Wilke C, Bevot A, Zuchner S, Beltran S, Laurie S, Matalonga L, Graessner H, Synofzik M; Solve-RD Consortium.

PUBMED DOI

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data. Eur J Hum Genet. 2021 Sep;29(9):1337-1347

Matalonga L, Hernández-Ferrer C, Piscia D; Solve-RD SNV-indel working group; Schüle R, Synofzik M, Töpf A, Vissers LELM, de Voer R; Solve-RD DITF-GENTURIS; Solve-RD DITF-ITHACA; Solve-RD DITF-euroNMD; Solve-RD DITF-RND; Tonda R, Laurie S, Fernandez-Callejo M, Picó D, Garcia-Linares C, Papakonstantinou A, Corvó A, Joshi R, Diez H, Gut I, Hoischen A, Graessner H, Beltran S; Solve-RD Consortia.

PUBMED DOI

A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis. Eur J Hum Genet. 2021 Sep;29(9):1359-1368

de Boer E, Ockeloen CW, Matalonga L, Horvath R; Solve-RD SNV-indel working group; Rodenburg RJ, Coenen MJH, Janssen M, Henssen D, Gilissen C, Steyaert W, Paramonov I; Solve-RD-DITF-ITHACA; Trimouille A, Kleefstra T, Verloes A, Vissers LELM.

PUBMED DOI

Investigación