Congenital Cataracts and Gut Dysmotility in a DYNC1H1 Dyneinopathy Patient

Por Gelineau-Morel, Rose, Lukacs, Marshall, Weaver, K. Nicole, Hufnagel, Robert B., Gilbert, Donald L., Stottmann, Rolf W.
Publicado no Genes (Basel) (2016)

Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction

Por Weaver, K. Nicole, Watt, Kristin E. Noack, Hufnagel, Robert B., Navajas Acedo, Joaquin, Linscott, Luke L., Sund, Kristen L., Bender, Patricia L., König, Rainer, Lourenco, Charles M., Hehr, Ute, Hopkin, Robert J., Lohmann, Dietmar R., Trainor, Paul A., Wieczorek, Dagmar, Saal, Howard M.
Publicado no Am J Hum Genet (2015)

Mutations in the Endothelin Receptor Type A Cause Mandibulofacial Dysostosis with Alopecia

Por Gordon, Christopher T., Weaver, K. Nicole, Zechi-Ceide, Roseli Maria, Madsen, Erik C., Tavares, Andre L.P., Oufadem, Myriam, Kurihara, Yukiko, Adameyko, Igor, Picard, Arnaud, Breton, Sylvain, Pierrot, Sébastien, Biosse-Duplan, Martin, Voisin, Norine, Masson, Cécile, Bole-Feysot, Christine, Nitschké, Patrick, Delrue, Marie-Ange, Lacombe, Didier, Guion-Almeida, Maria Leine, Moura, Priscila Padilha, Garib, Daniela Gamba, Munnich, Arnold, Ernfors, Patrik, Hufnagel, Robert B., Hopkin, Robert J., Kurihara, Hiroki, Saal, Howard M., Weaver, David D., Katsanis, Nicholas, Lyonnet, Stanislas, Golzio, Christelle, Clouthier, David E., Amiel, Jeanne
Publicado no Am J Hum Genet (2015)