Novel Phenotype in Unbalanced 7;9 Translocation with Critical Incidental Finding

por Fischer, Julie, Rohena, Luis
Publicado 2022

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

por Baltensperger, Austin, Haischer, Gayle, Rohena, Luis
Publicado 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 2017

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

por Banta, Jonathan, Beasley, Knox, Kobayashi, Todd, Rohena, Luis
Publicado 2016

Case report: Novel phenotype in central 22q11.2 deletion syndrome

por Dideum, Patrick, Rohena, Luis, Berg, Janet, Percival, Candace
Publicado 2020

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 2017

Youngest presenting patient with dystonia 24 and review of the literature

por Nelin, Sarah, Hussey, Richard, Faux, Brian M., Rohena, Luis
Publicado 2018

A case series of a mother and two daughters with a GLI2 gene deletion demonstrating variable expressivity and incomplete penetrance

por Elward, Cameron, Berg, Janet, Oberlin, John M., Rohena, Luis
Publicado 2020

Fashionably Late: A Case of Delayed Cutaneous Manifestations in Juvenile Dermatomyositis

por Antoine, Maya, Reeves, Patrick T, Rohena, Luis, Jones, Olcay, Faux, Brian
Publicado 2018

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 2013

Lisch nodules and iris mammillations in two siblings with familial legius syndrome

por Bixel, Kaitlyn D., Cano, Miguel J., Johnson, Damon M., Gomez, Benjamin, Lobsinger, Laura V., Valentin, Frank E., Hsieh, David T., Rohena, Luis O.
Publicado 2020

NK cell defects in X-linked pigmentary reticulate disorder

por Starokadomskyy, Petro, Wilton, Katelynn M., Krzewski, Konrad, Lopez, Adam, Sifuentes-Dominguez, Luis, Overlee, Brittany, Chen, Qing, Ray, Ann, Gil-Krzewska, Aleksandra, Peterson, Mary, Kinch, Lisa N., Rohena, Luis, Grunebaum, Eyal, Zinn, Andrew R., Grishin, Nick V., Billadeau, Daniel D., Burstein, Ezra
Publicado 2019

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 2014

Defining the clinical phenotype of Saul-Wilson syndrome.

por Ferreira, Carlos R., Zein, Wadih M., Huryn, Laryssa A., Merker, Andrea, Berger, Seth I., Wilson, William G., Tiller, George E., Wolfe, Lynne A., Merideth, Melissa, Carvalho, Daniel R., Duker, Angela L., Bratke, Heiko, Haug, Marte Gjøl, Rohena, Luis, Hove, Hanne B., Xia, Zhi-Jie, Ng, Bobby G., Freeze, Hudson H., Gabriel, Melissa, Russi, Alvaro H. Serrano, Brick, Lauren, Kozenko, Mariya, Earl, Dawn L., Tham, Emma, Nishimura, Gen, Phillips, John A., Gahl, William A., Hamid, Rizwan, Jackson, Andrew P., Grigelioniene, Giedre, Bober, Michael B.
Publicado 2020

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

por Mirzaa, Ghayda, Chong, Jessica X., Piton, Amélie, Popp, Bernt, Foss, Kimberly, Guo, Hui, Harripaul, Ricardo, Xia, Kun, Scheck, Joshua, Aldinger, Kimberly A., Sajan, Samin A., Tang, Sha, Bonneau, Dominique, Beck, Anita, White, Janson, Mahida, Sonal, Harris, Jacqueline, Smith-Hicks, Constance, Hoyer, Juliane, Zweier, Christiane, Reis, André, Thiel, Christian T., Jamra, Rami Abou, Zeid, Natasha, Yang, Amy, Farach, Laura S., Walsh, Laurence, Payne, Katelyn, Rohena, Luis, Velinov, Milen, Ziegler, Alban, Schaefer, Elise, Gatinois, Vincent, Geneviève, David, Simon, Marleen E.H., Kohler, Jennefer, Rotenberg, Joshua, Wheeler, Patricia, Larson, Austin, Ernst, Michelle E., Akman, Cigdem I., Westman, Rachel, Blanchet, Patricia, Schillaci, Lori-Anne, Vincent-Delorme, Catherine, Gripp, Karen W., Mattioli, Francesca, Guyader, Gwenaël Le, Gerard, Bénédicte, Mathieu-Dramard, Michèle, Morin, Gilles, Sasanfar, Roksana, Ayub, Muhammad, Vasli, Nasim, Yang, Sandra, Person, Rick, Monaghan, Kristin G., Nickerson, Deborah A., van Binsbergen, Ellen, Enns, Gregory M, Dries, Annika M, Rowe, Leah J, Tsai, Anne CH, Svihovec, Shayna, Friedman, Jennifer, Agha, Zehra, Qamar, Raheel, Rodan, Lance H., Martinez-Agosto, Julian, Ockeloen, Charlotte W., Vincent, Marie, Sunderland, William James, Bernstein, Jonathan A., Eichler, Evan E., Vincent, John B., Bamshad, Michael J.
Publicado 2019

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

por Palmer, Elizabeth E., Pusch, Michael, Picollo, Alessandra, Forwood, Caitlin, Nguyen, Matthew H., Suckow, Vanessa, Gibbons, Jessica, Hoff, Alva, Sigfrid, Lisa, Megarbane, Andre, Nizon, Mathilde, Cogné, Benjamin, Beneteau, Claire, Alkuraya, Fowzan S., Chedrawi, Aziza, Hashem, Mais O., Stamberger, Hannah, Weckhuysen, Sarah, Vanlander, Arnaud, Ceulemans, Berten, Rajagopalan, Sulekha, Nunn, Kenneth, Arpin, Stéphanie, Raynaud, Martine, Motter, Constance S., Ward-Melver, Catherine, Janssens, Katrien, Meuwissen, Marije, Beysen, Diane, Dikow, Nicola, Grimmel, Mona, Haack, Tobias B., Clement, Emma, McTague, Amy, Hunt, David, Townshend, Sharron, Ward, Michelle, Richards, Linda J., Simons, Cas, Costain, Gregory, Dupuis, Lucie, Mendoza-Londono, Roberto, Dudding-Byth, Tracy, Boyle, Jackie, Saunders, Carol, Fleming, Emily, El Chehadeh, Salima, Spitz, Marie-Aude, Piton, Amelie, Gerard, Bénédicte, Abi Warde, Marie-Thérèse, Rea, Gillian, McKenna, Caoimhe, Douzgou, Sofia, Banka, Siddharth, Akman, Cigdem, Bain, Jennifer M., Sands, Tristan T., Wilson, Golder N., Silvertooth, Erin J., Miller, Lauren, Lederer, Damien, Sachdev, Rani, Macintosh, Rebecca, Monestier, Olivier, Karadurmus, Deniz, Collins, Felicity, Carter, Melissa, Rohena, Luis, Willemsen, Marjolein H., Ockeloen, Charlotte W., Pfundt, Rolph, Kroft, Sanne D., Field, Michael, Laranjeira, Francisco E. R., Fortuna, Ana M., Soares, Ana R., Michaud, Vincent, Naudion, Sophie, Golla, Sailaja, Weaver, David D., Bird, Lynne M., Friedman, Jennifer, Clowes, Virginia, Joss, Shelagh, Pölsler, Laura, Campeau, Philippe M., Blazo, Maria, Bijlsma, Emilia K., Rosenfeld, Jill A., Beetz, Christian, Powis, Zöe, McWalter, Kirsty, Brandt, Tracy, Torti, Erin, Mathot, Mikaël, Mohammad, Shekeeb S., Armstrong, Ruth, Kalscheuer, Vera M.
Publicado 2022