Rare deleterious mutations are associated with disease in bipolar disorder families

af Rao, Aliz R, Yourshaw, Michael, Christensen, Bryce, Nelson, Stanley F, Kerner, Berit
Udgivet i Mol Psychiatry (2016)

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

af Yourshaw, Michael, Taylor, S. Paige, Rao, Aliz R., Martín, Martín G., Nelson, Stanley F.
Udgivet i Brief Bioinform (2015)

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

af Kerner, Berit, Rao, Aliz R., Christensen, Bryce, Dandekar, Sugandha, Yourshaw, Michael, Nelson, Stanley F.
Udgivet 2013

Functional Consequences of a Novel Variant of PCSK1

af Pickett, Lindsay A., Yourshaw, Michael, Albornoz, Valeria, Chen, Zijun, Solorzano-Vargas, R. Sergio, Nelson, Stanley F., Martín, Martín G., Lindberg, Iris
Udgivet 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

af 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
Udgivet 2014

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

af 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.
Udgivet 2013

Loss of ADAM17 is associated with severe multiorgan dysfunction()

af 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.
Udgivet i Hum Pathol (2015)

Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia

af 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.
Udgivet i Brain (2016)

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

af 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
Udgivet i Hum Mutat (2018)

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

af 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
Udgivet 2013

Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

af 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.
Udgivet i JAMA (2014)

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

af 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
Udgivet 2013

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

af 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.
Udgivet 2012

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

af 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.
Udgivet i J Mol Diagn (2018)