Lessons learned from the search for genes responsible for rare Mendelian disorders

by Sobreira, Nara L., Valle, David
Published 2016

Simultaneous optic and vestibulocochlear syphilitic neuropathy in a patient with HIV infection

by Rodríguez-Uña, Ignacio, Serrador-García, Mercedes, Santos-Bueso, Enrique, Díaz-Valle, David, García-Feijóo, Julián
Published 2013

PhenoDB: A New Web-Based Tool for the Collection, Storage, and Analysis of Phenotypic Features

by Hamosh, Ada, Sobreira, Nara, Hoover-Fong, Julie, Sutton, V Reid, Boehm, Corinne, Schiettecatte, François, Valle, David
Published 2013

Corneal cross linking and infectious keratitis: a systematic review with a meta-analysis of reported cases

by Alio, Jorge L, Abbouda, Alessandro, Valle, David Diaz, del Castillo, Jose M Benitez, Fernandez, Jose A Gegundez
Published 2013

Assessment of incidental findings in 232 whole exome sequences from the Baylor-Hopkins Center for Mendelian Genomics

by Jurgens, Julie, Ling, Hua, Hetrick, Kurt, Pugh, Elizabeth, Schiettecatte, Francois, Doheny, Kimberly, Hamosh, Ada, Avramopoulos, Dimitri, Valle, David, Sobreira, Nara
Published 2015

A germline ERBB3 variant is a candidate for predisposition to erythroid MDS/erythroleukemia

by Braunstein, Evan M., Li, Ruijuan, Sobreira, Nara, Marosy, Beth, Hetrick, Kurt, Doheny, Kim, Gocke, Christopher D., Valle, David, Brodsky, Robert A., Cheng, Linzhao
Published 2016

Glaukos iStent inject® Trabecular Micro-Bypass Implantation Associated with Cataract Surgery in Patients with Coexisting Cataract and Open-Angle Glaucoma or Ocular Hypertension: A...

by Arriola-Villalobos, Pedro, Martinez-de-la-Casa, Jose Maria, Diaz-Valle, David, Morales-Fernandez, Laura, Fernandez-Perez, Cristina, Garcia-Feijoo, Julian
Published 2016

Functional Variants in DPYSL2 Sequence Increase Risk of Schizophrenia and Suggest a Link to mTOR Signaling

by Liu, Yaping, Pham, Xuan, Zhang, Lilei, Chen, Pei-lung, Burzynski, Grzegorz, McGaughey, David M., He, Shan, McGrath, John A., Wolyniec, Paula, Fallin, Margaret D., Pierce, Megan S., McCallion, Andrew S., Pulver, Ann E., Avramopoulos, Dimitrios, Valle, David
Published 2014

Monomeric neutrophil gelatinase associated lipocalin is associated with tubulointerstitial damage in chronic kidney disease

by Nickolas, Thomas L., Forster, Catherine, Sise, Meghan E., Barasch, Nicholas, Valle, David Solá-Del, Viltard, Melanie, Buchen, Charles, Kupferman, Shlomo, Carnevali, Maria Luisa, Bennett, Michael, Mattei, Silvia, Bovino, Achiropita, Argentiero, Lucia, Magnano, Andrea, Devarajan, Prasad, Mori, Kiyoshi, Erdjument-Bromage, Hediye, Tempst, Paul, Allegri, Landino, Barasch, Jonathan
Published 2012

Lack of association between the protein tyrosine phosphatase non-receptor type 22 R263Q and R620W functional genetic variants and endogenous non-anterior uveitis

by Cénit, María Carmen, Márquez, Ana, Cordero-Coma, Miguel, Fonollosa, Alejandro, Llorenç, Victor, Artaraz, Joseba, Valle, David Díaz, Blanco, Ricardo, Cañal, Joaquín, Salom, David, Serrano, José Luis García, de Ramón, Enrique, José del Rio, María, Gorroño-Echebarría, Marina Begoña, Martín-Villa, José Manuel, Molins, Blanca, Ortego-Centeno, Norberto, Martín, Javier
Published 2013

Evaluation of the IL2/IL21, IL2RA and IL2RB genetic variants influence on the endogenous non-anterior uveitis genetic predisposition

by Cénit, María Carmen, Márquez, Ana, Cordero-Coma, Miguel, Fonollosa, Alejandro, Adán, Alfredo, Martínez-Berriotxoa, Agustín, Llorenç, Victor, Díaz Valle, David, Blanco, Ricardo, Cañal, Joaquín, Díaz-Llopis, Manuel, García Serrano, José Luis, de Ramón, Enrique, del Rio, María José, Begoña Gorroño- Echebarría, Marina, Martín-Villa, José Manuel, Ortego-Centeno, Norberto, Martín, Javier
Published 2013

Two Functional Variants of IRF5 Influence the Development of Macular Edema in Patients with Non-Anterior Uveitis

by Márquez, Ana, Cénit, María Carmen, Cordero-Coma, Miguel, Ortego-Centeno, Norberto, Adán, Alfredo, Fonollosa, Alejandro, Díaz Valle, David, Pato, Esperanza, Blanco, Ricardo, Cañal, Joaquín, Díaz-Llopis, Manuel, de Ramón, Enrique, del Rio, María José, García Serrano, José Luis, Artaraz, Joseba, Martín-Villa, José Manuel, Llorenç, Víctor, Gorroño-Echebarría, Marina Begoña, Martín, Javier
Published 2013

No Evidence of Association between Common Autoimmunity STAT4 and IL23R Risk Polymorphisms and Non-Anterior Uveitis

by Cénit, María Carmen, Márquez, Ana, Cordero-Coma, Miguel, Gorroño-Echebarría, Marina Begoña, Fonollosa, Alejandro, Adán, Alfredo, Martínez-Berriotxoa, Agustín, Díaz Valle, David, Pato, Esperanza, Blanco, Ricardo, Cañal, Joaquín, Díaz-Llopis, Manuel, García Serrano, José Luis, de Ramón, Enrique, del Rio, María José, Martín-Villa, José Manuel, Molins, Blanca, Ortego-Centeno, Norberto, Martín, Javier
Published 2013

Implementing genomic medicine in the clinic: the future is here

by Manolio, Teri A., Chisholm, Rex L., Ozenberger, Brad, Roden, Dan M., Williams, Marc S., Wilson, Richard, Bick, David, Bottinger, Erwin P., Brilliant, Murray H., Eng, Charis, Frazer, Kelly A., Korf, Bruce, Ledbetter, David H., Lupski, James R., Marsh, Clay, Mrazek, David, Murray, Michael F., O'Donnell, Peter H., Rader, Daniel J., Relling, Mary V., Shuldiner, Alan R., Valle, David, Weinshilboum, Richard, Green, Eric D., Ginsburg, Geoffrey S.
Published 2013

Mutations in Alström Protein Impair Terminal Differentiation of Cardiomyocytes

by Shenje, Lincoln T., Andersen, Peter, Halushka, Marc K., Lui, Cecillia, Fernandez, Laviel, Collin, Gayle B., Amat-Alarcon, Nuria, Meschino, Wendy, Cutz, Ernest, Chang, Kenneth, Yonescu, Raluca, Batista, Denise A. S., Chen, Yan, Chelko, Stephen, Crosson, Jane E., Scheel, Janet, Vricella, Luca, Craig, Brian D., Marosy, Beth A., Mohr, David W., Hetrick, Kurt N., Romm, Jane M., Scott, Alan F., Valle, David, Naggert, Jürgen K., Kwon, Chulan, Doheny, Kimberly F., Judge, Daniel P.
Published 2014

Genome-Wide Association Study in Obsessive-Compulsive Disorder: Results from the OCGAS

by Mattheisen, Manuel, Samuels, Jack F., Wang, Ying, Greenberg, Benjamin D., Fyer, Abby J., McCracken, James T., Geller, Daniel A., Murphy, Dennis L., Knowles, James A., Grados, Marco A., Riddle, Mark A., Rasmussen, Steven A., McLaughlin, Nicole C., Nurmi, Erica, Askland, Kathleen D., Qin, Hai-De, Cullen, Bernadette A., Piacentini, John, Pauls, David L., Bienvenu, O. Joseph, Stewart, S. Evelyn, Liang, Kung-Yee, Goes, Fernando S., Maher, Brion, Pulver, Ann E., Shugart, Yin-Yao, Valle, David, Lange, Cristoph, Nestadt, Gerald
Published 2014