Rare deleterious mutations are associated with disease in bipolar disorder families

Por Rao, Aliz R, Yourshaw, Michael, Christensen, Bryce, Nelson, Stanley F, Kerner, Berit
Publicado no Mol Psychiatry (2016)

Rich annotation of DNA sequencing variants by leveraging the Ensembl Variant Effect Predictor with plugins

Por Yourshaw, Michael, Taylor, S. Paige, Rao, Aliz R., Martín, Martín G., Nelson, Stanley F.
Publicado no Brief Bioinform (2015)

Rare Genomic Variants Link Bipolar Disorder with Anxiety Disorders to CREB-Regulated Intracellular Signaling Pathways

Por Kerner, Berit, Rao, Aliz R., Christensen, Bryce, Dandekar, Sugandha, Yourshaw, Michael, Nelson, Stanley F.
Publicado em 2013

Functional Consequences of a Novel Variant of PCSK1

Por Pickett, Lindsay A., Yourshaw, Michael, Albornoz, Valeria, Chen, Zijun, Solorzano-Vargas, R. Sergio, Nelson, Stanley F., Martín, Martín G., Lindberg, Iris
Publicado em 2013

A Novel Familial Mutation in the PCSK1 Gene That Alters the Oxyanion Hole Residue of Proprotein Convertase 1/3 and Impairs Its Enzymatic Activity

Por Wilschanski, Michael, Abbasi, Montaser, Blanco, Elias, Lindberg, Iris, Yourshaw, Michael, Zangen, David, Berger, Itai, Shteyer, Eyal, Pappo, Orit, Bar-Oz, Benjamin, Martín, Martin G., Elpeleg, Orly
Publicado em 2014

Exome Sequencing Finds a Novel PCSK1 Mutation in a Child With Generalized Malabsorptive Diarrhea and Diabetes Insipidus

Por Yourshaw, Michael, Solorzano-Vargas, R. Sergio, Pickett, Lindsay A., Lindberg, Iris, Wang, Jiafang, Cortina, Galen, Pawlikowska-Haddal, Anna, Baron, Howard, Venick, Robert S., Nelson, Stanley F., Martín, Martín G.
Publicado em 2013

Loss of ADAM17 is associated with severe multiorgan dysfunction()

Por Bandsma, Robert H.J., van Goor, Harry, Yourshaw, Michael, Horlings, Rudolf K., Jonkman, Marcel F., Schölvinck, Elisabeth H., Karrenbeld, Arend, Scheenstra, Rene, Kömhoff, Martin, Rump, Patrick, Koopman-Keemink, Yvonne, Nelson, Stanley F., Escher, Johanna C., Cutz, Ernest, Martín, Martín G.
Publicado no Hum Pathol (2015)

Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia

Por Wan, Jijun, Steffen, Janos, Yourshaw, Michael, Mamsa, Hafsa, Andersen, Erik, Rudnik-Schöneborn, Sabine, Pope, Kate, Howell, Katherine B., McLean, Catriona A., Kornberg, Andrew J., Joseph, Jörg, Lockhart, Paul J., Zerres, Klaus, Ryan, Monique M., Nelson, Stanley F., Koehler, Carla M., Jen, Joanna C.
Publicado no Brain (2016)

EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome

Por Pathak, Sagar J., Mueller, James L., Okamoto, Kevin, Das, Barun, Hertecant, Jozef, Greenhalgh, Lynn, Cole, Trevor, Pinsk, Vered, Yerushalmi, Baruch, Gurkan, Odul E., Yourshaw, Michael, Hernandez, Erick, Oesterreicher, Sandy, Naik, Sandhia, Sanderson, Ian R., Axelsson, Irene, Agardh, Daniel, Boland, C. Richard, Martin, Martin G., Putnam, Christopher D., Sivagnanam, Mamata
Publicado no Hum Mutat (2018)

Congenital Proprotein Convertase 1/3 Deficiency Causes Malabsorptive Diarrhea and other Endocrinopathies in a Pediatric Cohort

Por Martín, Martín G., Lindberg, Iris, Solorzano-Vargas, R. Sergio, Wang, Jiafang, Avitzur, Yaron, Bandsma, Robert, Sokollik, Christiane, Lawrence, Sarah, Pickett, Lindsay A., Chen, Zijun, Egritas, Odul, Dalgic, Buket, Albornoz, Valeria, de Ridder, Lissy, Hulst, Jessie, Gok, Faysal, Aydoğan, Ayşen, Al-Hussaini, Abdulrahman, Gok, Deniz Engin, Yourshaw, Michael, Wu, S. Vincent, Cortina, Galen, Stanford, Sara, Georgia, Senta
Publicado em 2013

Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

Por Lee, Hane, Deignan, Joshua L., Dorrani, Naghmeh, Strom, Samuel P., Kantarci, Sibel, Quintero-Rivera, Fabiola, Das, Kingshuk, Toy, Traci, Harry, Bret, Yourshaw, Michael, Fox, Michelle, Fogel, Brent L., Martinez-Agosto, Julian A., Wong, Derek A., Chang, Vivian Y., Shieh, Perry B., Palmer, Christina G. S., Dipple, Katrina M., Grody, Wayne W., Vilain, Eric, Nelson, Stanley F.
Publicado no JAMA (2014)

Pontocerebellar hypoplasia type 1: Clinical spectrum and relevance of EXOSC3 mutations

Por Rudnik-Schöneborn, Sabine, Senderek, Jan, Jen, Joanna C., Houge, Gunnar, Seeman, Pavel, Puchmajerová, Alena, Graul-Neumann, Luitgard, Seidel, Ulrich, Korinthenberg, Rudolf, Kirschner, Janbernd, Seeger, Jürgen, Ryan, Monique M., Muntoni, Francesco, Steinlin, Maja, Sztriha, Laszlo, Colomer, Jaume, Hübner, Christoph, Brockmann, Knut, Van Maldergem, Lionel, Schiff, Manuel, Holzinger, Andreas, Barth, Peter, Reardon, William, Yourshaw, Michael, Nelson, Stanley F., Eggermann, Thomas, Zerres, Klaus
Publicado em 2013

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

Por Wan, Jijun, Yourshaw, Michael, Mamsa, Hafsa, Rudnik-Schöneborn, Sabine, Menezes, Manoj P., Hong, Ji Eun, Leong, Derek W., Senderek, Jan, Salman, Michael S., Chitayat, David, Seeman, Pavel, von Moers, Arpad, Graul-Neumann, Luitgard, Kornberg, Andrew J., Castro-Gago, Manuel, Sobrido, María-Jesús, Sanefuji, Masafumi, Shieh, Perry B., Salamon, Noriko, Kim, Ronald C., Vinters, Harry V., Chen, Zugen, Zerres, Klaus, Ryan, Monique M., Nelson, Stanley F., Jen, Joanna C.
Publicado em 2012

System for Informatics in the Molecular Pathology Laboratory: An Open-Source End-to-End Solution for Next-Generation Sequencing Clinical Data Management

Por Kang, Wenjun, Kadri, Sabah, Puranik, Rutika, Wurst, Michelle N., Patil, Sushant A., Mujacic, Ibro, Benhamed, Sonia, Niu, Nifang, Zhen, Chao Jie, Ameti, Bekim, Long, Bradley C., Galbo, Filipo, Montes, David, Iracheta, Crystal, Gamboa, Venessa L., Lopez, Daisy, Yourshaw, Michael, Lawrence, Carolyn A., Aisner, Dara L., Fitzpatrick, Carrie, McNerney, Megan E., Wang, Y. Lynn, Andrade, Jorge, Volchenboum, Samuel L., Furtado, Larissa V., Ritterhouse, Lauren L., Segal, Jeremy P.
Publicado no J Mol Diagn (2018)