(en) S. Berkel, C. R. Marshall, B. Weiss, J. Howe, R. Roeth, U. Moog, V. Endris, W. Roberts, P. Szatmari, D. Pinto, M. Bonin, A. Riess, H. Engels, R. Sprengel, S. W. Scherer, G. A. Rappold, Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation, (DOI10.1038/ng.589, lire en ligne)
(en) A. Rauch, D. Wieczorek, E. Graf, T. Wieland, S. Endele, T. Schwarzmayr, B. Albrecht, D. Bartholdi, J. Beygo, N. Di Donato, A. Dufke, M. Hempel, D. Horn, J. Hoyer, T. Joset, A. Röpke, U. Moog, A. Riess, C. T. Thiel, A. Tzschach, A. Wiesener, E. Wohlleber, C. Zweier, A. B. Ekici, A. M. Zink, A. Rump, C. Meisinger, H. Grallert, H. Sticht, A. Schenck, H. Engels, G. Rappold, E. Schröck, P. Wieacker, O. Riess, T. Meitinger, A. Reis, T. M. Strom, Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study, (DOI10.1016/S0140-6736(12)61480-9, lire en ligne)
(en) H. Fröhlich, M. L. Kollmeyer, V. C. Linz, M. Stuhlinger, D. Groneberg, A. Reigl, E. Zizer, A. Friebe, B. Niesler, G. Rappold, Gastrointestinal dysfunction in autism displayed by altered motility and achalasia in Foxp1+/- mice, vol.116, (DOI10.1073/pnas.1911429116, lire en ligne)
(en) H. J. Cooke, W. R. A. Brown, G. A. Rappold, Hypervariable telomeric sequences from the human sex chromosomes are pseudoautosomal, vol.317, (DOI10.1038/317687a0, lire en ligne)
(en) A. Montalbano, L. Juergensen, R. Roeth, B. Weiss, M. Fukami, S. Fricke-Otto, G. Binder, E. Decker, G. Nuernberg, D. Hassel, G. A. Rappold, Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency (DOI10.15252/emmm.201606623, lire en ligne)
(en) S. Berkel, C. R. Marshall, B. Weiss, J. Howe, R. Roeth, U. Moog, V. Endris, W. Roberts, P. Szatmari, D. Pinto, M. Bonin, A. Riess, H. Engels, R. Sprengel, S. W. Scherer, G. A. Rappold, Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation, (DOI10.1038/ng.589, lire en ligne)
(en) H. J. Cooke, W. R. A. Brown, G. A. Rappold, Hypervariable telomeric sequences from the human sex chromosomes are pseudoautosomal, vol.317, (DOI10.1038/317687a0, lire en ligne)
(en) C. Bacon, M. Schneider, C. Le Magueresse, H. Froehlich, C. Sticht, C. Gluch, P. Tucker, H. Monyer, G. Rappold, Brain-specific Foxp1 deletion impairs neuronal development and causes autistic-like behavior., (PMID25266127, lire en ligne)
(en) E. Rao, B. Weiss, M. Fukami, A. Rump, B. Niesler, A. Mertz, K. Moroya, G. Binder, S. Kirsch, M. Winkelmann, U. Heinrich, M. H. Breuning, M. Ranke, A. Rosenthal, R. Ogata, G. A. Rappold, Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner Syndrome, vol.16, (PMID9140395, lire en ligne)
(en) R. J. Blaschke, N. D. Hahurij, S. Kuijper, S. Just, L. J. Wisse, K. Deissler, T. Maxelon, K. Anastassiadis, J. Spitzer, S. Hardt, H. Schöler, H. Feitsma, W. Rottbauer, M. Blum, F. Meijlink, G. Rappold, A. C. Gittenberger-de Groot, Targeted mutation reveals essential functions of the homeodomain transcription factor Shox2 in sinoatrial and pacemaking development, vol.115, (PMID17372176, lire en ligne)
(en) A. Marchini, T. Ogata, G. A. Rappold, A track record on SHOX: from basic research to complex models and therapy, vol.37, (PMID27355317, lire en ligne)
pubmed.ncbi.nlm.nih.gov
(en) C. Bacon, M. Schneider, C. Le Magueresse, H. Froehlich, C. Sticht, C. Gluch, P. Tucker, H. Monyer, G. Rappold, Brain-specific Foxp1 deletion impairs neuronal development and causes autistic-like behavior., (PMID25266127, lire en ligne)
(en) E. Rao, B. Weiss, M. Fukami, A. Rump, B. Niesler, A. Mertz, K. Moroya, G. Binder, S. Kirsch, M. Winkelmann, U. Heinrich, M. H. Breuning, M. Ranke, A. Rosenthal, R. Ogata, G. A. Rappold, Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner Syndrome, vol.16, (PMID9140395, lire en ligne)
(en) R. J. Blaschke, N. D. Hahurij, S. Kuijper, S. Just, L. J. Wisse, K. Deissler, T. Maxelon, K. Anastassiadis, J. Spitzer, S. Hardt, H. Schöler, H. Feitsma, W. Rottbauer, M. Blum, F. Meijlink, G. Rappold, A. C. Gittenberger-de Groot, Targeted mutation reveals essential functions of the homeodomain transcription factor Shox2 in sinoatrial and pacemaking development, vol.115, (PMID17372176, lire en ligne)
(en) A. Marchini, T. Ogata, G. A. Rappold, A track record on SHOX: from basic research to complex models and therapy, vol.37, (PMID27355317, lire en ligne)
(en) H. Fröhlich, M. L. Kollmeyer, V. C. Linz, M. Stuhlinger, D. Groneberg, A. Reigl, E. Zizer, A. Friebe, B. Niesler, G. Rappold, Gastrointestinal dysfunction in autism displayed by altered motility and achalasia in Foxp1+/- mice, vol.116, (DOI10.1073/pnas.1911429116, lire en ligne)
(en) A. Rauch, D. Wieczorek, E. Graf, T. Wieland, S. Endele, T. Schwarzmayr, B. Albrecht, D. Bartholdi, J. Beygo, N. Di Donato, A. Dufke, M. Hempel, D. Horn, J. Hoyer, T. Joset, A. Röpke, U. Moog, A. Riess, C. T. Thiel, A. Tzschach, A. Wiesener, E. Wohlleber, C. Zweier, A. B. Ekici, A. M. Zink, A. Rump, C. Meisinger, H. Grallert, H. Sticht, A. Schenck, H. Engels, G. Rappold, E. Schröck, P. Wieacker, O. Riess, T. Meitinger, A. Reis, T. M. Strom, Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study, (DOI10.1016/S0140-6736(12)61480-9, lire en ligne)
(en) A. Montalbano, L. Juergensen, R. Roeth, B. Weiss, M. Fukami, S. Fricke-Otto, G. Binder, E. Decker, G. Nuernberg, D. Hassel, G. A. Rappold, Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency (DOI10.15252/emmm.201606623, lire en ligne)
