Publications

Heterozygous missense variants in the ATPase phospholipid transporting 9A gene, ATP9A, alter dendritic spine maturation and cause dominantly inherited nonsyndromic intellectual disability.

Cordovado, A., Hérenger, Y., Cormier, C., López-Martín, E., Stamberger, H., Faivre, L., Denommé-Pichon, A., Vitobello, A., Hadj Abdallah, H., Barcia, G., Courtin, T., Martínez-Delgado, B., Bermejo-Sánchez, E., Barrero, M. J., Gasser, B., Bezieau, S., Küry, S., Weckhuysen, S., Laumonnier, F., Toutain, A., Vuillaume,  M.

Hum Mutat. 2025;2025:7085599.

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Laurie, S., Steyaert, W., de Boer, E., Polavarapu, K., Schuermans, N., Sommer, A. K., Demidov, G., Ellwanger, K., Paramonov, I., Thomas, C., Aretz, S., Baets, J., Benetti, E., Bullich, G., Chinnery, P. F., Clayton-Smith, J., Cohen, E., Danis, D., de Sainte Agathe, J. M., Denommé-Pichon, A. S., Diaz-Manera, J., Efthymiou, S., Faivre, L., Fernandez-Callejo, M., Freeberg, M., Garcia-Pelaez, J., Guillot-Noel, L., Haack, T. B., Hanna, M., Hengel, H., Horvath, R., Houlden, H., Jackson, A., Johansson, L., Johari, M., Kamsteeg, E. J., Kellner, M., Kleefstra, T., Lacombe, D., Lochmüller, H., López-Martín, E., Macaya, A., Marcé-Grau, A., Maver, A., Morsy, H., Muntoni, F., Musacchia, F., Nelson, I., Nigro, V., Olimpio, C., Oliveira, C., Paulasová Schwabová, J., Pauly, M. G., Peterlin, B., Peters, S., Pfundt, R., Piluso, G., Piscia, D., Posada, M., Reich, S., Renieri, A., Ryba, L., Šablauskas, K., Savarese, M., Schöls, L., Schütz, L., Steinke-Lange, V., Stevanin, G., Straub, V., Sturm, M., Swertz, M. A., Tartaglia, M., Te Paske, I. B. A. W., Thompson, R., Torella, A., Trainor, C., Udd, B., Van de Vondel, L., van de Warrenburg, B., van Reeuwijk, J., Vandrovcova, J., Vitobello, A., Vos, J., Vyhnálková, E., Wijngaard, R., Wilke, C., William, D., Xu, J., Yaldiz, B., Zalatnai, L., Zurek, B., Solve-RD DITF-GENTURIS, Solve-RD DITF-ITHACA, Solve-RD DITF-EURO-NMD, Solve-RD DITF-RND, Solve-RD consortium, Brookes, A. J., Evangelista, T., Gilissen, C., Graessner, H., Hoogerbrugge, N., Ossowski, S., Riess, O., Schüle, R., Synofzik, M., Verloes, A., Matalonga, L., Brunner, H. G., Lohmann, K., de Voer, R. M., Töpf, A., Vissers, L. E. L. M.,  Beltran, S., Hoischen,  A

Nat Med. 2025 Jan 17.

Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses. 

Demidov, G., Yaldiz, B., Garcia-Pelaez, J., de Boer, E., Schuermans, N., Van de Vondel, L., Paramonov, I., Johansson, L. F., Musacchia, F., Benetti, E., Bullich, G., Sablauskas, K., Beltran, S., Gilissen, C., Hoischen, A., Ossowski, S., de Voer, R., Lohmann, K., Oliveira, C., Topf, A., Vissers, L. E. L. M., Solve-RD Consortium, Laurie, S. 

NPJ Genom Med. 2024;9(1):49.

An interconnected data infrastructure to support large-scale rare disease research.

Johansson, L. F., Laurie, S., Spalding, D., Gibson, S., Ruvolo, D., Thomas, C., Piscia, D., de Andrade, F., Been, G., Bijlsma, M., Brunner, H., Cimerman, S., Dizjikan, F. Y., Ellwanger, K., Fernandez, M., Freeberg, M., van de Geijn, G. J., Kanninga, R., Maddi, V., Mehtarizadeh, M., Neerincx, P., Ossowski, S., Rath, A., Roelofs-Prins, D., Stok-Benjamins, M., van der Velde, K. J., Veal, C., van der Vries, G., Wadsley, M., Warren, G., Zurek, B., Keane, T., Graessner, H., Beltran, S., Swertz, M. A., Brookes, A. J., Solve-RD consortium.

Gigascience. 2024;13:giae058.

Hyperkinetic movement disorder caused by the recurrent c.892C>T NACC1 variant.

Komulainen-Ebrahim, J., Kangas, S. M., López-Martín, E., Feyma, T., Scaglia, F., Martínez-Delgado, B., Kuismin, O., Suo-Palosaari, M., Carr, L., Hinttala, R., Kurian, M. A., Uusimaa, J.

Mov Disord Clin Pract. 2024;11(6):708–15.

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing.

Yaldiz, B., Kucuk, E., Hampstead, J., Hofste, T., Pfundt, R., Corominas Galbany, J., Rinne, T., Yntema, H. G., Hoischen, A., Nelen, M., Gilissen, C., Solve-RD consortium.

Hum Genomics. 2023;17(1):39.

Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14. 

Jackson, A., Lin, S., Jones, E., Chandler, K., Orr, D., Moss, C., Haider, Z., Ryan, G., Holden, S., Harrison, M., Burrows, N., Jones, W., Loveless, M., Petree, K., Stewart, H., Low, K., Donnelly, D., Lovell, S., Drosou, K., Varshney, G., Banka, S., The Genomics England Research Consortium, Solve-RD consortium.

HGG Adv. 2023;4(2):100186.

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis. 

Gehin, C., Lone, M. A., Lee, W., Capolupo, L., Ho, S., Adeyemi, A. M., Gerkes, E. H., Stegmann, A. P. A., López-Martín, E., Bermejo-Sánchez, E., Martínez-Delgado, B., Zweier, C., Kraus, C., Popp, B., Strehlow, V., Gräfe, D., Knerr, I., Jones, E. R., Zamuner, S., Abriata, L. A., Kunnathully, V., Moeller, B. E., Vocat, A., Rommelaere, S., Bocquete, J.-P., Ruchti, E., Limoni, G., Van Campenhoudt, M., Bourgeat, S., Henklein, P., Gilissen, C., van Bon, B. W., Pfundt, R., Willemsen, M. H., Schieving, J. H., Leonardi, E., Soli, F., Murgia, A., Guo, H., Zhang, Q., Xia, K., Fagerberg, C. R., Beier, C. P., Larsen, M. J., Valenzuela, I., Fernández-Álvarez, P., Xiong, S., Śmigiel, R., López-González, V., Armengol, L., Morleo, M., Selicorni, A., Torella, A., Blyth, M., Cooper, N. S., Wilson, V., Oegema, R., Herenger, Y., Garde, A., Bruel, A.-L., Tran Mau-Them, F., Maddocks, A. B. R., Bain, J. M., Bhat, M. A., Costain, G., Kannu, P., Marwaha, A., Champaigne, N. L., Friez, M. J., Richardson, E. B., Gowda, V. K., Srinivasan, V. M., Gupta, Y., Lim, T. Y., Sanna-Cherchi, S., Lemaitre, B., Yamaji, T., Hanada, K., Burke, J. E., Jakšić, A. M., McCabe, B. D., De Los Rios, P., Hornemann, T., D’Angelo, G., Gennarino, V. A.

J Clin Invest. 2023;133(10):e165019.

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.

Denommé-Pichon, A. S., Matalonga, L., de Boer, E., Jackson, A., Benetti, E., Banka, S., Bruel, A. L., Ciolfi, A., Clayton-Smith, J., Dallapiccola, B., Duffourd, Y., Ellwanger, K., Fallerini, C., Gilissen, C., Graessner, H., Haack, T. B., Havlovicova, M., Hoischen, A., Jean-Marçais, N., Kleefstra, T., López-Martín, E., Macek, M., Mencarelli, M. A., Moutton, S., Pfundt, R., Pizzi, S., Posada, M., Radio, F. C., Renieri, A., Rooryck, C., Ryba, L., Safraou, H., Schwarz, M., Tartaglia, M., Thauvin-Robinet, C., Thevenon, J., Tran Mau-Them, F., Trimouille, A., Votypka, P., de Vries, B. B. A., Willemsen, M. H., Zurek, B., Verloes, A., Philippe, C., Solve-RD DITF-ITHACA, Solve-RD SNV-indel Working Group, Solve-RD Consortia, Orphanomix Group, Vitobello, A., Vissers, L. E. L. M., Faivre, L.

Genet Med. 2023;25(4):100018.

Differences in expression of IQSEC2 transcript isoforms in male and female cases with loss of function variants and neurodevelopmental disorder.

Baladron, B., Mielu, L. M., López-Martín, E., Barrero, M. J., Lopez, L., Alvarado, J. I., Monzón, S., Varona, S., Cuesta, I., Cazorla, R., Lara, J., Iglesias, G., Román, E., Ros, P., Gomez-Mariano, G., Cubillo, I., Hernandez-San Miguel, E., Rivera, D., Alonso, J., Bermejo-Sánchez, E., Posada, M., Martínez-Delgado, B.

Int J Mol Sci. 2022;23:9480.

The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.

Laurie, S., Piscia, D., Matalonga, L., Corvo, A., Garcia, C., Fernandez-Callejo, M., Hernandez, C., Luengo, C., Ntalis, A. P., Protassio, J., Martinez, I., Pico, D., Thompson, R., Tonda, R., Bayes, M., Bullich, G., Camps, J., Paramonov, I., Trotta, J. R., Alonso, A., Attimonelli, M., Béroud, C., Bros-Facer, V., Buske, O., Cañada, A., Fernandez, J. M., Hansson, M., Horvath, R., Jacobsen, J., Kaliyaperumal, R., Lair, S., Licata, L., Lopes, P., López-Martin, E., Mascalzoni, D., Monaco, L., Jurado, L. P., Posada, M., Rambla, J., Rath, A., Riess, O., Robinson, P., Smedley, D., Spalding, D. J., ‘t Hoen, P. B., Töpf, A., Zaharieva, I., Graessner, H., Gut, I., Lochmüller, H., Beltran, S.

Hum Mutat. 2022 Feb 17. [Online ahead of print].

Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant.

de Boer, E., Yaldiz, B., Denommé-Pichon, A.-S., Matalonga, L., Laurie, S., Solve-RD SNV-indel working group; Solve-RD-DITF-ITHACA.

Eur J Med Genet. 2022;65(1):104402.

Estudio de pacientes pediátricos con fenotipo clínico y bioquímico de síndrome de déficit de transportador de glucosa cerebral (GLUT-1).

Jiménez Legido, M., Cortés Ledesma, C., Bernardino Cuesta, B., López Marín, L., Cantarín Extremera, V., Pérez-Cerdá, C., Pérez-González, B., López Martín, E., González Gutiérrez-Solana, L

Neurología. 2022;37(2):91–100.

Solving unsolved rare neurological diseases – a Solve-RD viewpoint.

Schüle, R., Timmann, D., Erasmus, C. E., 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.

Eur J Hum Genet. 2021;29(9):1332–6.

A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis. 

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

Eur J Hum Genet. 2021;29(9):1359–68.

Solve-RD: Systematic pan-European data sharing and collaborative analysis to solve rare diseases.

Zurek, B., Ellwanger, K., Vissers, L. E. L. M., Schüle, R., Synofzik, M., Töpf, A., de Voer, R. M., Laurie, S., Matalonga, L., Gilissen, C., Ossowski, S., ‘t Hoen, P. A. C., Vitobello, A., Schulze-Hentrich, J. M., Riess, O., Brunner, H. G., Brookes, A. J., Rath, A., Bonne, G., Gumus, G., Verloes, A., Hoogerbrugge, N., Evangelista, T., Harmuth, T., Swertz, M., Spalding, D., Hoischen, A., Beltran, S., Graessner, H., Solve-RD consortium.

Eur J Hum Genet. 2021;29(9):1325–31.

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.

Matalonga, L., Hernández-Ferrer, C., Piscia, D., Solve-RD SNV-indel working group; Schüle, R., Synofzik, M., Töpf, A., Vissers, L. E. L. M., 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.

Eur J Hum Genet. 2021;29(9):1337–47.

De novo small deletion affecting transcription start site of short isoform of AUTS2 gene in a patient with syndromic neurodevelopmental defects.

Martinez-Delgado, B., Lopez-Martin, E., Lara-Herguedas, J., Monzon, S., Cuesta, I., Juliá, M., Aquino, V., Rodriguez-Martin, C., Damian, A., Gonzalo, I., Gomez-Mariano, G., Baladron, B., Cazorla, R., Iglesias, G., Roman, E., Ros, P., Tutor, P., Mellor, S., Jimenez, C., Cabrejas, M. J., Gonzalez-Vioque, E., Alonso, J., Bermejo-Sánchez, E., Posada, M..

Am J Med Genet A. 2021;185(3):877–83.

Improved diagnosis of rare disease patients through systematic detection of runs of homozygosity.

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, G.-J., Lochmüller, H., Beltran, S., RD–Connect Genome-Phenome Analysis Platform and URD-Cat Data Contributors.

 J Mol Diagn. 2020;22(9):1205–15.

Five new cases of syndromic intellectual disability due to KAT6A mutations: Widening the molecular and clinical spectrum.

Urreizti, R*., Lopez-Martin, E*., Martinez-Monseny, A., Pujadas, M., Castilla-Vallmanya, L., Pérez-Jurado, L. A., Serrano, M., Natera-de Benito, D., Martínez-Delgado, B., Posada-de-la-Paz, M., Alonso, J., Marin-Reina, P., O’Callaghan, M., Grinberg, D.+, Bermejo-Sánchez, E.+, Balcells, S.

Orphanet J Rare Dis. 2020;15(1):44.

SpainUDP: The Spanish Undiagnosed Rare Diseases Program.

López-Martín, E., Martínez-Delgado, B., Bermejo-Sánchez, E., Alonso, J., SpainUDP Network, Posada, M.

Int J Environ Res Public Health. 2018;15(8):E1746.

SpainUDP: Un programa de casos de enfermedades raras sin diagnóstico.

López-Martín, E., Posada, M.

Artículo de revisión en la web de AELMHU – Asociación Española de Laboratorios de Medicamentos Huérfanos y Ultrahuérfanos, 9 Oct 2017