Rare case of live born with confirmed mosaic trisomy 17 and review of the literature

Por Baltensperger, Austin, Haischer, Gayle, Rohena, Luis
Publicado no Clin Case Rep (2016)

Rare presentation of 6q16.3 microdeletion syndrome with severe upper limb reduction defects and duodenal atresia

Por Donahue, Megan L., Rohena, Luis O.
Publicado no Clin Case Rep (2017)

Encephalocraniocutaneous lipomatosis (Haberland syndrome): A mild case with bilateral cutaneous and ocular involvement

Por Banta, Jonathan, Beasley, Knox, Kobayashi, Todd, Rohena, Luis
Publicado no JAAD Case Rep (2016)

Tetraploid–diploid mosaicism in a patient with pigmentary anomalies of hair and skin: a new dermatologic feature

Por Schacht, John Paul, Farnworth, Elisha, Hogue, Jacob, Rohena, Luis
Publicado no Clin Case Rep (2017)

Tuberous sclerosis complex: Five new things

Por Hsieh, David T., Whiteway, Susan L., Rohena, Luis O., Thiele, Elizabeth A.
Publicado no Neurol Clin Pract (2016)

Mutation in SNAP25 as a novel genetic cause of epilepsy and intellectual disability

Por Rohena, Luis, Neidich, Julie, Truitt Cho, Megan, Gonzalez, Kelly DF, Tang, Sha, Devinsky, Orrin, Chung, Wendy K
Publicado em 2013

Mutations in the Cholesterol Transporter Gene ABCA5 Are Associated with Excessive Hair Overgrowth

Por DeStefano, Gina M., Kurban, Mazen, Anyane-Yeboa, Kwame, Dall'Armi, Claudia, Di Paolo, Gilbert, Feenstra, Heather, Silverberg, Nanette, Rohena, Luis, López-Cepeda, Larissa D., Jobanputra, Vaidehi, Fantauzzo, Katherine A., Kiuru, Maija, Tadin-Strapps, Marija, Sobrino, Antonio, Vitebsky, Anna, Warburton, Dorothy, Levy, Brynn, Salas-Alanis, Julio C., Christiano, Angela M.
Publicado em 2014

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

Por Kim, Jung-Hyun, Shinde, Deepali N., Reijnders, Margot R.F., Hauser, Natalie S., Belmonte, Rebecca L., Wilson, Gregory R., Bosch, Daniëlle G.M., Bubulya, Paula A., Shashi, Vandana, Petrovski, Slavé, Stone, Joshua K., Park, Eun Young, Veltman, Joris A., Sinnema, Margje, Stumpel, Connie T.R.M., Draaisma, Jos M., Nicolai, Joost, Yntema, Helger G., Lindstrom, Kristin, de Vries, Bert B.A., Jewett, Tamison, Santoro, Stephanie L., Vogt, Julie, Bachman, Kristine K., Seeley, Andrea H., Krokosky, Alyson, Turner, Clesson, Rohena, Luis, Hempel, Maja, Kortüm, Fanny, Lessel, Davor, Neu, Axel, Strom, Tim M., Wieczorek, Dagmar, Bramswig, Nuria, Laccone, Franco A., Behunova, Jana, Rehder, Helga, Gordon, Christopher T., Rio, Marlène, Romana, Serge, Tang, Sha, El-Khechen, Dima, Cho, Megan T., McWalter, Kirsty, Douglas, Ganka, Baskin, Berivan, Begtrup, Amber, Funari, Tara, Schoch, Kelly, Stegmann, Alexander P.A., Stevens, Servi J.C., Zhang, Dong-Er, Traver, David, Yao, Xu, MacArthur, Daniel G., Brunner, Han G., Mancini, Grazia M., Myers, Richard M., Owen, Laurie B., Lim, Ssang-Taek, Stachura, David L., Vissers, Lisenka E.L.M., Ahn, Eun-Young Erin
Publicado no Am J Hum Genet (2016)