- Cospain, A.; Rivera-Barahona, A.; Dumontet, E.; Gener, B.; Bailleul-Forestier, I.; Meyts, I.; Jouret, G.; Isidor, B.; Brewer, C.; Wuyts, W.; Moens, L.; Delafontaine, S.; Keung Lam, W.W.; Van Den Bogaert, K.; Boogaerts, A.; Scalais, E.; Besnard, T.; Cogne, B.; Guissard, C.; Rollier, P.; Carre, W.; Bouvet, R.; Tarte, K.; Gómez-Carmona, R.; Lapunzina, P.; Odent, S.; Faoucher, M.; Dubourg, C.; Ruiz-Pérez, V.L.; Devriendt, K.; Pasquier, L.; Pérez-Jurado, L.A. "FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects.". Genet Med. (): . (2022). (PMID: 36197437).
 
- Iturrate, A.; Rivera-Barahona, A.; Flores, C.L.; Otaify, G.A.; Elhossini, R.; Perez-Sanz, M.L.; Nevado, J.; Tenorio-Castano, J.; Triviño, J.C.; Garcia-Gonzalo, F.R.; Piceci-Sparascio, F.; De Luca, A.; Martínez, L.; Kalaycı, T.; Lapunzina, P.; Altunoglu, U.; Aglan, M.; Abdalla, E.; Ruiz-Perez, V.L. "Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia.". Am J Hum Genet. (): . (2022). (PMID: 36084634).
- Horn, D.; Fernández-Núñez, E.; Gomez-Carmona, R.; Rivera-Barahona, A.; Nevado, J.; Schwartzmann, S.; Ehmke, N.; Lapunzina, P.; Otaify, G.A.; Temtamy, S.; Aglan, M.; Boschann, F.; Ruiz-Perez, V.L. "Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly.". Genet Med. (): . (2021). (PMID: 33442026).
- Palencia-Campos, A.; Aoto, P.C.; Machal, E.M.F.; Rivera-Barahona, A.; Soto-Bielicka, P.; Bertinetti, D.; Baker, B.; Vu, L.; Piceci-Sparascio, F.; Torrente, I.; Boudin, E.; Peeters, S.; Van Hul, W.; Huber, C.; Bonneau, D.; Hildebrand, M.S.; Coleman, M.; Bahlo, M.; Bennett, M.F.; Schneider, A.L.; Scheffer, I.E.; Kibæk, M.; Kristiansen, B.S.; Issa, M.Y.; Mehrez, M.I.; Ismail, S.; Tenorio, J.; Li, G.; Skålhegg, B.S.; Otaify, G.A.; Temtamy, S.; Aglan, M.; Jønch, A.E.; De Luca, A.; Mortier, G.; Cormier-Daire, V.; Ziegler, A.; Wallis, M.; Lapunzina, P.; Herberg, F.W.; Taylor, S.S.; Ruiz-Perez, V.L. "Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.". Am J Hum Genet. (): . (2020). (PMID: 33058759).
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