Rare TBX4 Variant Causing Pulmonary Arterial Hypertension With Small Patella Syndrome in an Adult Man

por Shrivastava, Sanskriti, Kruisselbrink, Teresa M., Mohananey, Akanksha, Thomas, Brittany C., Kushwaha, Sudhir S., Pereira, Naveen L.
Publicado 2021

Pharmacogenomic findings from clinical whole exome sequencing of diagnostic odyssey patients

por Cousin, Margot A., Matey, Eric T., Blackburn, Patrick R., Boczek, Nicole J., McAllister, Tammy M., Kruisselbrink, Teresa M., Babovic‐Vuksanovic, Dusica, Lazaridis, Konstantinos N., Klee, Eric W.
Publicado 2017

Determining the frequency of pathogenic germline variants from exome sequencing in patients with castrate-resistant prostate cancer

por Hart, Steven N, Ellingson, Marissa S, Schahl, Kim, Vedell, Peter T, Carlson, Rachel E, Sinnwell, Jason P, Barman, Poulami, Sicotte, Hugues, Eckel-Passow, Jeanette E, Wang, Liguo, Kalari, Krishna R, Qin, Rui, Kruisselbrink, Teresa M, Jimenez, Rafael E, Bryce, Alan H, Tan, Winston, Weinshilboum, Richard, Wang, Liewei, Kohli, Manish
Publicado 2016

Genomics Integration Into Nephrology Practice

por Pinto e Vairo, Filippo, Prochnow, Carri, Kemppainen, Jennifer L., Lisi, Emily C., Steyermark, Joan M., Kruisselbrink, Teresa M., Pichurin, Pavel N., Dhamija, Rhadika, Hager, Megan M., Albadri, Sam, Cornell, Lynn D., Lazaridis, Konstantinos N., Klee, Eric W., Senum, Sarah R., El Ters, Mireille, Amer, Hatem, Baudhuin, Linnea M., Moyer, Ann M., Keddis, Mira T., Zand, Ladan, Sas, David J., Erickson, Stephen B., Fervenza, Fernando C., Lieske, John C., Harris, Peter C., Hogan, Marie C.
Publicado 2021

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

por Cousin, Margot A., Veale, Emma L., Dsouza, Nikita R., Tripathi, Swarnendu, Holden, Robyn G., Arelin, Maria, Beek, Geoffrey, Bekheirnia, Mir Reza, Beygo, Jasmin, Bhambhani, Vikas, Bialer, Martin, Bigoni, Stefania, Boelman, Cyrus, Carmichael, Jenny, Courtin, Thomas, Cogne, Benjamin, Dabaj, Ivana, Doummar, Diane, Fazilleau, Laura, Ferlini, Alessandra, Gavrilova, Ralitza H., Graham, John M., Haack, Tobias B., Juusola, Jane, Kant, Sarina G., Kayani, Saima, Keren, Boris, Ketteler, Petra, Klöckner, Chiara, Koopmann, Tamara T., Kruisselbrink, Teresa M., Kuechler, Alma, Lambert, Laëtitia, Latypova, Xénia, Lebel, Robert Roger, Leduc, Magalie S., Leonardi, Emanuela, Lewis, Andrea M., Liew, Wendy, Machol, Keren, Mardini, Samir, McWalter, Kirsty, Mignot, Cyril, McLaughlin, Julie, Murgia, Alessandra, Narayanan, Vinodh, Nava, Caroline, Neuser, Sonja, Nizon, Mathilde, Ognibene, Davide, Park, Joohyun, Platzer, Konrad, Poirsier, Céline, Radtke, Maximilian, Ramsey, Keri, Runke, Cassandra K., Guillen Sacoto, Maria J., Scaglia, Fernando, Shinawi, Marwan, Spranger, Stephanie, Tan, Ee Shien, Taylor, John, Trentesaux, Anne-Sophie, Vairo, Filippo, Willaert, Rebecca, Zadeh, Neda, Urrutia, Raul, Babovic-Vuksanovic, Dusica, Zimmermann, Michael T., Mathie, Alistair, Klee, Eric W.
Publicado 2022