Cortical atrophy and hypofibrinogenemia due to FGG and TBCD mutations in a single family: a case report

Por Stephen, Joshi, Nampoothiri, Sheela, Vinayan, K. P., Yesodharan, Dhanya, Remesh, Preetha, Gahl, William A., Malicdan, May Christine V.
Publicado no BMC Med Genet (2018)

Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5

Por Stephen, Joshi, Yokoyama, Tadafumi, Tolman, Nathanial J., O’Brien, Kevin J., Nicoli, Elena-Raluca, Brooks, Brian P., Huryn, Laryssa, Titus, Steven A., Adams, David R., Chen, Dong, Gahl, William A., Gochuico, Bernadette R., Malicdan, May Christine V.
Publicado no PLoS One (2017)

Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency

Por Stephen, Joshi, Vilboux, Thierry, Mian, Luhe, Kuptanon, Chulaluck, Sinclair, Courtney M., Yildirimli, Deniz, Maynard, Dawn M., Bryant, Joy, Fischer, Roxanne, Vemulapalli, Meghana, Mullikin, James C., Huizing, Marjan, Gahl, William A., Malicdan, May Christine V., Gunay-Aygun, Meral
Publicado no Hum Genet (2017)

Identification of an Alu element‐mediated deletion in the promoter region of GNE in siblings with GNE myopathy

Por Garland, Jennifer, Stephen, Joshi, Class, Bradley, Gruber, Angela, Ciccone, Carla, Poliak, Aaron, Hayes, Christina P., Singhal, Vandana, Slota, Christina, Perreault, John, Gavrilova, Ralitza, Shrader, Joseph A., Chittiboina, Prashant, Joe, Galen, Heiss, John, Gahl, William A., Huizing, Marjan, Carrillo, Nuria, Malicdan, May Christine V.
Publicado no Mol Genet Genomic Med (2017)

Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations

Por Stephen, Joshi, Vilboux, Thierry, Haberman, Yael, Pri-Chen, Hadass, Pode-Shakked, Ben, Mazaheri, Sina, Marek-Yagel, Dina, Barel, Ortal, Di Segni, Ayelet, Eyal, Eran, Hout-Siloni, Goni, Lahad, Avishay, Shalem, Tzippora, Rechavi, Gideon, Malicdan, May Christine V, Weiss, Batia, Gahl, William A, Anikster, Yair
Publicado no Eur J Hum Genet (2016)

Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes

Por Malicdan, May Christine V, Vilboux, Thierry, Stephen, Joshi, Maglic, Dino, Mian, Luhe, Konzman, Daniel, Guo, Jennifer, Yildirimli, Deniz, Bryant, Joy, Fischer, Roxanne, Zein, Wadih M, Snow, Joseph, Vemulapalli, Meghana, Mullikin, James C, Toro, Camilo, Solomon, Benjamin D, Niederhuber, John E, Gahl, William A, Gunay-Aygun, Meral
Publicado no J Med Genet (2015)

Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy

Por Kambouris, Marios, Thevenon, Julien, Soldatos, Ariane, Cox, Allison, Stephen, Joshi, Ben‐Omran, Tawfeg, Al‐Sarraj, Yasser, Boulos, Hala, Bone, William, Mullikin, James C., Masurel‐Paulet, Alice, St‐Onge, Judith, Dufford, Yannis, Chantegret, Corrine, Thauvin‐Robinet, Christel, Al‐Alami, Jamil, Faivre, Laurence, Riviere, Jean Baptiste, Gahl, William A., Bassuk, Alexander G., Malicdan, May Christine V., El‐Shanti, Hatem
Publicado no Ann Clin Transl Neurol (2016)