Genetic association analysis of 77,539 genomes reveals rare disease etiologies von Greene, Daniel, Pirri, Daniela, Frudd, Karen, Sackey, Ege, Al-Owain, Mohammed, Giese, Arnaud P. J., Ramzan, Khushnooda, Riaz, Sehar, Yamanaka, Itaru, Boeckx, Nele, Thys, Chantal, Gelb, Bruce D., Brennan, Paul, Hartill, Verity, Harvengt, Julie, Kosho, Tomoki, Mansour, Sahar, Masuno, Mitsuo, Ohata, Takako, Stewart, Helen, Taibah, Khalid, Turner, Claire L. S., Imtiaz, Faiqa, Riazuddin, Saima, Morisaki, Takayuki, Ostergaard, Pia, Loeys, Bart L., Morisaki, Hiroko, Ahmed, Zubair M., Birdsey, Graeme M., Freson, Kathleen, Mumford, Andrew, Turro, Ernest

Volltext

CIB2 regulates mTORC1 signaling and is essential for autophagy and visual function von Sethna, Saumil, Scott, Patrick A., Giese, Arnaud P. J., Duncan, Todd, Jian, Xiaoying, Riazuddin, Sheikh, Randazzo, Paul A., Redmond, T. Michael, Bernstein, Steven L., Riazuddin, Saima, Ahmed, Zubair M.

Volltext

Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48 von Riazuddin, Saima, Belyantseva, Inna A, Giese, Arnaud P J, Lee, Kwanghyuk, Indzhykulian, Artur A, Nandamuri, Sri Pratima, Yousaf, Rizwan, Sinha, Ghanshyam P, Lee, Sue, Terrell, David, Hegde, Rashmi S, Ali, Rana A, Anwar, Saima, Andrade-Elizondo, Paula B, Sirmaci, Asli, Parise, Leslie V, Basit, Sulman, Wali, Abdul, Ayub, Muhammad, Ansar, Muhammad, Ahmad, Wasim, Khan, Shaheen N, Akram, Javed, Tekin, Mustafa, Riazuddin, Sheikh, Cook, Tiffany, Buschbeck, Elke K, Frolenkov, Gregory I, Leal, Suzanne M, Friedman, Thomas B, Ahmed, Zubair M

Volltext

CIB2 interacts with TMC1 and TMC2 and is essential for mechanotransduction in auditory hair cells von Giese, Arnaud P. J., Tang, Yi-Quan, Sinha, Ghanshyam P., Bowl, Michael R., Goldring, Adam C., Parker, Andrew, Freeman, Mary J., Brown, Steve D. M., Riazuddin, Saima, Fettiplace, Robert, Schafer, William R., Frolenkov, Gregory I., Ahmed, Zubair M.

Volltext

Radioprotective Effect of Aminothiol PrC-210 on Irradiated Inner Ear of Guinea Pig von Giese, Arnaud P J, Guarnaschelli, Jess G, Ward, Jonette A, Choo, Daniel I, Riazuddin, Saima, Ahmed, Zubair M

Volltext

FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice von Schrauwen, Isabelle, Giese, Arnaud PJ, Aziz, Abdul, Lafont, David Tino, Chakchouk, Imen, Santos‐Cortez, Regie Lyn P, Lee, Kwanghyuk, Acharya, Anushree, Khan, Falak Sher, Ullah, Asmat, Nickerson, Deborah A, Bamshad, Michael J, Ali, Ghazanfar, Riazuddin, Saima, Ansar, Muhammad, Ahmad, Wasim, Ahmed, Zubair M, Leal, Suzanne M

Volltext

Genomics of Otitis Media (OM): Molecular Genetics Approaches to Characterize Disease Pathophysiology von Giese, Arnaud P J, Ali, Saadat, Isaiah, Amal, Aziz, Ishrat, Riazuddin, Saima, Ahmed, Zubair M

Volltext

An alteration in ELMOD3, an Arl2 GTPase-activating protein, is associated with hearing impairment in humans von Jaworek, Thomas J, Richard, Elodie M, Ivanova, Anna A, Giese, Arnaud P J, Choo, Daniel I, Khan, Shaheen N, Riazuddin, Sheikh, Kahn, Richard A, Riazuddin, Saima

Volltext

ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment von Bharadwaj, Thashi, Schrauwen, Isabelle, Rehman, Sakina, Liaqat, Khurram, Acharya, Anushree, Giese, Arnaud P J, Nouel-Saied, Liz M, Nasir, Abdul, Everard, Jenna L, Pollock, Lana M, Zhu, Shaoyuan, Bamshad, Michael J, Nickerson, Deborah A, Ali, Raja Hussain, Ullah, Asmat, Wali, Abdul, Ali, Ghazanfar, Santos-Cortez, Regie Lyn P, Ahmed, Zubair M, McDermott, Jr, Brian M, Ansar, Muhammad, Riazuddin, Saima, Ahmad, Wasim, Leal, Suzanne M

Volltext

Modifier variant of METTL13 suppresses human GAB1-associated profound deafness von Yousaf, Rizwan, Ahmed, Zubair M, Giese, Arnaud Pj, Morell, Robert J, Lagziel, Ayala, Dabdoub, Alain, Wilcox, Edward R, Riazuddin, Sheikh, Friedman, Thomas B, Riazuddin, Saima

Volltext

Complexes of vertebrate TMC1/2 and CIB2/3 proteins form hair-cell mechanotransduction cation channels von Giese, Arnaud P J, Weng, Wei-Hsiang, Kindt, Katie S, Chang, Hui Ho Vanessa, Montgomery, Jonathan S, Ratzan, Evan M, Beirl, Alisha J, Aponte Rivera, Roberto, Lotthammer, Jeffrey M, Walujkar, Sanket, Foster, Mark P, Zobeiri, Omid A, Holt, Jeffrey R, Riazuddin, Saima, Cullen, Kathleen E, Sotomayor, Marcos, Ahmed, Zubair M

Volltext

Proposed therapy, developed in a Pcdh15 -deficient mouse, for progressive loss of vision in human Usher syndrome von Sethna, Saumil, Zein, Wadih M, Riaz, Sehar, Giese, Arnaud Pj, Schultz, Julie M, Duncan, Todd, Hufnagel, Robert B, Brewer, Carmen C, Griffith, Andrew J, Redmond, T Michael, Riazuddin, Saima, Friedman, Thomas B, Ahmed, Zubair M

Volltext

Studies of charge exchange in symmetric ion-ion collisions von Chen, C Y, Cocke, C L, Giese, J P, Melchert, F, Reiser, I, Stöckli, M, Sidky, E, Lin, C D

Volltext

Structure in the differential charge-state fractions of He following ionization by fast protons von GIESE, J. P, HORSDAL, E

Volltext

Otitis media susceptibility and shifts in the head and neck microbiome due to SPINK5 variants von Frank, DN, Giese, APJ, Hafren, L, Bootpetch, TC, Yarza, TKL, Steritz, MJ, Pedro, M, Labra, PJ, Daly, KA, Tantoco, MLC

Volltext

FUT2 Variants Confer Susceptibility to Familial Otitis Media von Santos-Cortez, Regie Lyn P., Chiong, Charlotte M., Frank, Daniel N., Ryan, Allen F., Giese, Arnaud P.J., Bootpetch Roberts, Tori, Daly, Kathleen A., Steritz, Matthew J., Szeremeta, Wasyl, Pedro, Melquiadesa, Pine, Harold, Yarza, Talitha Karisse L., Scholes, Melissa A., Llanes, Erasmo Gonzalo d.V., Yousaf, Saira, Friedman, Norman, Tantoco, Ma. Leah C., Wine, Todd M., Labra, Patrick John, Benoit, Jeanne, Ruiz, Amanda G., de la Cruz, Rhodieleen Anne R., Greenlee, Christopher, Yousaf, Ayesha, Cardwell, Jonathan, Nonato, Rachelle Marie A., Ray, Dylan, Ong, Kimberly Mae C., So, Edward, Robertson, Charles E., Dinwiddie, Jordyn, Lagrana-Villagracia, Sheryl Mae, Gubbels, Samuel P., Shaikh, Rehan S., Cass, Stephen P., Einarsdottir, Elisabet, Lee, Nanette R., Schwartz, David A., Gloria-Cruz, Teresa Luisa I., Bamshad, Michael J., Yang, Ivana V., Kere, Juha, Abes, Generoso T., Prager, Jeremy D., Riazuddin, Saima, Chan, Abner L., Yoon, Patricia J., Nickerson, Deborah A., Cutiongco-de la Paz, Eva Maria, Streubel, Sven-Olrik, Reyes-Quintos, Maria Rina T., Jenkins, Herman A., Mattila, Petri, Chan, Kenny H., Mohlke, Karen L., Leal, Suzanne M., Hafrén, Lena, Chonmaitree, Tasnee, Sale, Michele M., Ahmed, Zubair M.

Volltext

Stark beats from highly charged Rydberg ions created in high-energy beam - foil collisions von DePaola, B D, Kanait, Y, Richard, P, Awaya, Y, Schöne, H, Sanders, J M, Giese, J P, Zouros, T J M

Volltext

Inclusive multi-channel measurement of the impact-parameter distribution in collisions of swift heavy ions with He von Wong, K L, Wu, W, Montenegro, E C, Ben-Itzhak, I, Cocke, C L, Giese, J P, Richard, P

Volltext

Resonant dielectronic and direct excitation in crystal channels von DATZ, S, VANE, C. R, ROSSEEL, T. M, DITTNER, P. F, GIESE, J. P, GOMEZ DEL CAMPO, J, JONES, N. L, KRAUSE, H. F, MILLER, P. D, SCHULZ, M, SCHONE, H

Volltext

Angular distribution of Auger electrons emitted through the resonant transfer and excitation process following O5+ + He collisions von BENHENNI, M, SHAFROTH, S. M, SWENSON, J. K, SCHULZ, M, GIESE, J. P, SCHÖNE, H, VANE, C. R, DITTNER, P. F, DATZ, S

Volltext