Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease von Porath, Binu, Gainullin, Vladimir G., Cornec-Le Gall, Emilie, Dillinger, Elizabeth K., Heyer, Christina M., Hopp, Katharina, Edwards, Marie E., Madsen, Charles D., Mauritz, Sarah R., Banks, Carly J., Baheti, Saurabh, Reddy, Bharathi, Herrero, José Ignacio, Bañales, Jesús M., Hogan, Marie C., Tasic, Velibor, Watnick, Terry J., Chapman, Arlene B., Vigneau, Cécile, Lavainne, Frédéric, Audrézet, Marie-Pierre, Ferec, Claude, Le Meur, Yannick, Torres, Vicente E., Harris, Peter C.

Volltext

Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease von Cornec-Le Gall, Emilie, Olson, Rory J., Besse, Whitney, Heyer, Christina M., Gainullin, Vladimir G., Smith, Jessica M., Audrézet, Marie-Pierre, Hopp, Katharina, Porath, Binu, Shi, Beili, Baheti, Saurabh, Senum, Sarah R., Arroyo, Jennifer, Madsen, Charles D., Férec, Claude, Joly, Dominique, Jouret, François, Fikri-Benbrahim, Oussamah, Charasse, Christophe, Coulibaly, Jean-Marie, Yu, Alan S., Khalili, Korosh, Pei, York, Somlo, Stefan, Le Meur, Yannick, Torres, Vicente E., Harris, Peter C.

Volltext

Uniparental disomy in a population of 32,067 clinical exome trios von Scuffins, Julie, Keller-Ramey, Jennifer, Dyer, Lindsay, Douglas, Ganka, Torene, Rebecca, Gainullin, Vladimir, Juusola, Jane, Meck, Jeanne, Retterer, Kyle

Volltext

Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity von Hopp, Katharina, Ward, Christopher J, Hommerding, Cynthia J, Nasr, Samih H, Tuan, Han-Fang, Gainullin, Vladimir G, Rossetti, Sandro, Torres, Vicente E, Harris, Peter C

Volltext

Estimating the burden and economic impact of pediatric genetic disease von Gonzaludo, Nina, Belmont, John W., Gainullin, Vladimir G., Taft, Ryan J.

Volltext

ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data von Dolzhenko, Egor, Bennett, Mark F, Richmond, Phillip A, Trost, Brett, Chen, Sai, van Vugt, Joke J F A, Nguyen, Charlotte, Narzisi, Giuseppe, Gainullin, Vladimir G, Gross, Andrew M, Lajoie, Bryan R, Taft, Ryan J, Wasserman, Wyeth W, Scherer, Stephen W, Veldink, Jan H, Bentley, David R, Yuen, Ryan K C, Bahlo, Melanie, Eberle, Michael A

Volltext

Polycystin-1 maturation requires polycystin-2 in a dose-dependent manner von Gainullin, Vladimir G, Hopp, Katharina, Ward, Christopher J, Hommerding, Cynthia J, Harris, Peter C

Volltext

Mutations in GANAB, Encoding the Glucosidase IIa Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease von Porath, Binu, Gainullin, Vladimir G, Gall, Emilie Cornec-Le, Dillinger, Elizabeth K, Heyer, Christina M, Hopp, Katharina, Edwards, Marie E, Madsen, Charles D, Mauritz, Sarah R, Banks, Carly J, Baheti, Saurabh, Reddy, Bharathi, Herrero, José Ignacio, Bañales, Jesús M, Hogan, Marie C, Tasic, Velibor, Watnick, Terry J, Chapman, Arlene B, Vigneau, Cécile, Lavainne, Frédéric, Audrézet, Marie-Pierre, Ferec, Claude, Meur, Yannick Le, Torres, Vicente E, Group, Genkyst Study, Harris, Peter C

Volltext

Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy von Moreno-De-Luca, Andrés, Millan, Francisca, Pesacreta, Denis R, Elloumi, Houda Z, Oetjens, Matthew T, Teigen, Claire, Wain, Karen E, Scuffins, Julie, Myers, Scott M, Torene, Rebecca I, Gainullin, Vladimir G, Arvai, Kevin, Kirchner, H. Lester, Ledbetter, David H, Retterer, Kyle, Martin, Christa L

Volltext

Identification of Biomarkers for PKD1 Using Urinary Exosomes von Hogan, Marie C, Bakeberg, Jason L, Gainullin, Vladimir G, Irazabal, Maria V, Harmon, Amber J, Lieske, John C, Charlesworth, M Cristine, Johnson, Kenneth L, Madden, Benjamin J, Zenka, Roman M, McCormick, Daniel J, Sundsbak, Jamie L, Heyer, Christina M, Torres, Vicente E, Harris, Peter C, Ward, Christopher J

Volltext

Cl− and H+ coupling properties and subcellular localizations of wildtype and disease-associated variants of the voltage-gated Cl−/H+ exchanger ClC-5 von Chang, Min-Hwang, Brown, Matthew R., Liu, Yiran, Gainullin, Vladimir G., Harris, Peter C., Romero, Michael F., Lieske, John C.

Volltext

SUFU promotes GLI activity in a Hedgehog-independent manner in pancreatic cancer von Paradise, Brooke D, Gainullin, Vladimir G, Almada, Luciana L, Sigafoos, Ashley N, Sen, Sandhya, Vera, Renzo E, Raja Arul, Glancis Luzeena, Toruner, Murat, Pease, David R, Gonzalez, Alina L, Mentucci, Fatima M, Grasso, Daniel H, Fernandez-Zapico, Martin E

Volltext

Correction: Estimating the burden and economic impact of pediatric genetic disease von Gonzaludo, Nina, Belmont, John W., Gainullin, Vladimir G., Taft, Ryan J.

Volltext

Disrupting Polycystin-2 EF hand Ca2+ affinity does not alter channel function or contribute to polycystic kidney disease von Vien, Thuy N, Ng, Leo C T, Smith, Jessica M, Dong, Ke, Krappitz, Matteus, Gainullin, Vladimir G, Fedeles, Sorin, Harris, Peter C, Somlo, Stefan, DeCaen, Paul G

Volltext

Combinatorial Chemoprevention Reveals a Novel Smoothened-Independent Role of GLI1 in Esophageal Carcinogenesis von RIZVI, Sumera, DEMARS, Cathrine J, COMBA, Andrea, GAINULLIN, Vladimir G, RIZVI, Zaheer, ALMADA, Luciana L, WANG, Kenneth, LOMBERK, Gwen, FERNANDEZ-ZAPICO, Martin E, BUTTAR, Navtej S

Volltext

The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity von Leightner, Amanda C, Hommerding, Cynthia J, Peng, Ying, Salisbury, Jeffrey L, Gainullin, Vladimir G, Czarnecki, Peter G, Sussman, Caroline R, Harris, Peter C

Volltext

Genome sequencing in persistently unsolved white matter disorders von Helman, Guy, Lajoie, Bryan R., Crawford, Joanna, Takanohashi, Asako, Walkiewicz, Marzena, Dolzhenko, Egor, Gross, Andrew M., Gainullin, Vladimir G., Bent, Stephen J., Jenkinson, Emma M., Ferdinandusse, Sacha, Waterham, Hans R., Dorboz, Imen, Bertini, Enrico, Miyake, Noriko, Wolf, Nicole I., Abbink, Truus E. M., Kirwin, Susan M., Tan, Christina M., Hobson, Grace M., Guo, Long, Ikegawa, Shiro, Pizzino, Amy, Schmidt, Johanna L., Bernard, Genevieve, Schiffmann, Raphael, Knaap, Marjo S., Simons, Cas, Taft, Ryan J., Vanderver, Adeline

Volltext

Growth of lung cancer cells in three-dimensional microenvironments reveals key features of tumor malignancy von Cichon, Magdalena A, Gainullin, Vladimir G, Zhang, Ying, Radisky, Derek C

Volltext

Characterization of time to diagnosis indicates shorter interval for screenable versus symptom-driven cancers von Gainullin, Vladimir, Tong, Jing, Li, Yali, Gupta, Mudit, Lagerman, Braxton, Blank, Jackie, Limburg, Paul J., Hathaway, Christine

Volltext

Comparative PKD1 and PKD2 Missense Variant Profiling Aids Molecular Diagnoses Across the ADPKD Spectrum and Reveals Common Pathomechanisms: TH-OR37 von Sieben, Cynthia J., Gainullin, Vladimir, Heyer, Christina M., Dillinger, Elizabeth K., Thao, Ka, Sturmlechner, Ines, Harris, Peter C.

Volltext