Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia

por Chen, Haijun, von Hehn, Christian, Kaczmarek, Leonard K., Ment, Laura R., Pober, Barbara R., Hisama, Fuki M.
Publicado 2006

Novel LMNA mutations in Greek and Myanmar Patients with Progeroid Features and Cardiac Manifestations

por Kandhaya-Pillai, Renuka, Hisama, Fuki M., Bucks, Stephanie A., Yarzar, Soe, Korovou, Haroula, Martin, George M., Oshima, Junko
Publicado 2020

Adults with lysosomal storage diseases in the undiagnosed diseases network

por Xiao, Changrui, Koziura, Mary, Cope, Heidi, Spillman, Rebecca, Tan, Khoon, Hisama, Fuki M., Tifft, Cynthia J., Toro, Camilo
Publicado 2022

Familial co-segregation and the emerging role of long-read sequencing to re-classify variants of uncertain significance in inherited retinal diseases

por Gupta, Pankhuri, Nakamichi, Kenji, Bonnell, Alyssa C., Yanagihara, Ryan, Radulovich, Nick, Hisama, Fuki M., Chao, Jennifer R., Mustafi, Debarshi
Publicado 2023

Deletion of FUNDC2 and CMC4 on Chromosome Xq28 Is Sufficient to Cause Hypergonadotropic Hypogonadism in Men

por Deng, Xinxian, Fang, He, Pathak, Asha, Zou, Angela M., Neufeld-Kaiser, Whitney, Malouf, Emily A., Failor, Richard A., Hisama, Fuki M., Liu, Yajuan J.
Publicado 2020

CTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures

por Sargolzaeiaval, Forough, Zhang, Jiaming, Schleit, Jennifer, Lessel, Davor, Kubisch, Christian, Precioso, Debora R., Sillence, David, Hisama, Fuki M., Dorschner, Michael, Martin, George M., Oshima, Junko
Publicado 2018

Ethnic-specific WRN mutations in South Asian Werner syndrome patients: potential founder effect in patients with Indian or Pakistani ancestry

por Saha, Bidisha, Lessel, Davor, Nampoothiri, Sheela, Rao, Anuradha S, Hisama, Fuki M, Peter, Dincy, Bennett, Chris, Nürnberg, Gudrun, Nürnberg, Peter, Martin, George M, Kubisch, Christian, Oshima, Junko
Publicado 2013

Electronic health records contain dispersed risk factor information that could be used to prevent breast and ovarian cancer

por Payne, Thomas H, Zhao, Lue Ping, Le, Calvin, Wilcox, Peter, Yi, Troy, Hinshaw, Jesse, Hussey, Duncan, Kostrinsky-Thomas, Alex, Hale, Malika, Brimm, John, Hisama, Fuki M
Publicado 2020

Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation

por Gelman, Hannah, Dines, Jennifer N., Berg, Jonathan, Berger, Alice H., Brnich, Sarah, Hisama, Fuki M., James, Richard G., Rubin, Alan F., Shendure, Jay, Shirts, Brian, Fowler, Douglas M., Starita, Lea M.
Publicado 2019

$^{16}$O and $^{32}$S + $^{207}$Pb interactions in the CERN EMU-05 experiment

por Iyono, A, Dake, S, Tominaga, T, Ogata, T, Miyamura, O, Fuki, M, Takahashi, Y, Gregory, J C, Hayashi, T, Derrickson, J H, Edy, P B, Fountain, W F, Parnell, T A, Roberts, R E, Watts, J W, Tabuki, T, Nagamiya, S
Publicado 1988

Is Incidental Finding the Best Term? A Study of Patients’ Preferences

por Tan, Nina, Amendola, Laura M, O’Daniel, Julianne M., Burt, Amber, Horike-Pyne, Martha J., Boshe, Lacey, Henderson, Gail E., Rini, Christine, Roche M.S., Myra I., Hisama, Fuki M., Burke, Wylie, Wilfond, Benjamin, Jarvik, Gail P.
Publicado 2016

Targeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome cases

por Miller, Danny E., Lee, Lin, Galey, Miranda, Kandhaya-Pillai, Renuka, Tischkowitz, Marc, Amalnath, Deepak, Vithlani, Avadh, Yokote, Koutaro, Kato, Hisaya, Maezawa, Yoshiro, Takada-Watanabe, Aki, Takemoto, Minoru, Martin, George M., Eichler, Evan E., Hisama, Fuki M., Oshima, Junko
Publicado 2022

Dominant‐negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome

por Pujol‐Giménez, Jonai, Mirzaa, Ghayda, Blue, Elizabeth E., Albano, Giuseppe, Miller, Danny E., Allworth, Aimee, Bennett, James T., Byers, Peter H., Chanprasert, Sirisak, Chen, Jingheng, Doherty, Daniel, Folta, Andrew B., Gillentine, Madelyn A., Glass, Ian, Hing, Anne, Horike‐Pyne, Martha, Leppig, Kathleen A., Parhin, Azma, Ranchalis, Jane, Raskind, Wendy H., Rosenthal, Elisabeth A., Schwarze, Ulrike, Sheppeard, Sam, Strohbehn, Samuel, Sybert, Virginia P., Timms, Andrew, Wener, Mark, Bamshad, Michael J., Hisama, Fuki M., Jarvik, Gail P., Dipple, Katrina M., Hediger, Matthias A., Stergachis, Andrew B.
Publicado 2023

Deletions of NRXN1 (Neurexin-1) Predispose to a Wide Spectrum of Developmental Disorders

por Ching, Michael SL, Shen, Yiping, Tan, Wen-Hann, Jeste, Shafali S, Morrow, Eric M, Chen, Xiaoli, Mukaddes, Nahit M, Yoo, Seung-Yun, Hanson, Ellen, Hundley, Rachel, Austin, Christina, Becker, Ronald E, Berry, Gerard T, Driscoll, Katherine, Engle, Elizabeth C, Friedman, Sandra, Gusella, James F, Hisama, Fuki M, Irons, Mira B, Lafiosca, Tina, LeClair, Elaine, Miller, David T, Neessen, Michael, Picker, Jonathan D, Rappaport, Leonard, Rooney, Cynthia M, Sarco, Dean P, Stoler, Joan M, Walsh, Christopher A, Wolff, Robert R, Zhang, Ting, Nasir, Ramzi H, Wu, Bai-Lin
Publicado 2010

Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A

por Stergachis, Andrew B., Blue, Elizabeth E., Gillentine, Madelyn A., Wang, Lee-Kai, Schwarze, Ulrike, Cortés, Adriana Sedeño, Ranchalis, Jane, Allworth, Aimee, Bland, Austin E., Chanprasert, Sirisak, Chen, Jingheng, Doherty, Daniel, Folta, Andrew B., Glass, Ian, Horike-Pyne, Martha, Huang, Alden Y., Khan, Alyna T., Leppig, Kathleen A., Miller, Danny E., Mirzaa, Ghayda, Parhin, Azma, Raskind, Wendy H., Rosenthal, Elisabeth A., Sheppeard, Sam, Strohbehn, Samuel, Sybert, Virginia P., Tran, Thao T., Wener, Mark H., Byers, Peter H. H., Nelson, Stanley F., Bamshad, Michael J., Dipple, Katrina M., Jarvik, Gail P., Hoppins, Suzanne, Hisama, Fuki M.
Publicado 2023

Synchronized long-read genome, methylome, epigenome, and transcriptome for resolving a Mendelian condition

por Vollger, Mitchell R., Korlach, Jonas, Eldred, Kiara C., Swanson, Elliott, Underwood, Jason G., Cheng, Yong-Han H., Ranchalis, Jane, Mao, Yizi, Blue, Elizabeth E., Schwarze, Ulrike, Munson, Katherine M., Saunders, Christopher T., Wenger, Aaron M., Allworth, Aimee, Chanprasert, Sirisak, Duerden, Brittney L., Glass, Ian, Horike-Pyne, Martha, Kim, Michelle, Leppig, Kathleen A., McLaughlin, Ian J., Ogawa, Jessica, Rosenthal, Elisabeth A., Sheppeard, Sam, Sherman, Stephanie M., Strohbehn, Samuel, Yuen, Amy L., Reh, Thomas A., Byers, Peter H., Bamshad, Michael J., Hisama, Fuki M., Jarvik, Gail P., Sancak, Yasemin, Dipple, Katrina M., Stergachis, Andrew B.
Publicado 2023

Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A

por Stergachis, Andrew B., Blue, Elizabeth E., Gillentine, Madelyn A, Wang, Lee-kai, Schwarze, Ulrike, Cortés, Adriana Sedeño, Ranchalis, Jane, Allworth, Aimee, Bland, Austin E., Chanprasert, Sirisak, Chen, Jingheng, Doherty, Daniel, Folta, Andrew B., Glass, Ian, Horike-Pyne, Martha, Huang, Alden Y., Khan, Alyna T., Leppig, Kathleen A., Miller, Danny E., Mirzaa, Ghayda, Parhin, Azma, Raskind, Wendy, Rosenthal, Elisabeth A., Sheppeard, Sam, Strohbehn, Samuel, Sybert, Virginia P., Tran, Thao T., Wener, Mark, Byers, Peter H., Nelson, Stanley F., Bamshad, Michael J., Dipple, Katrina M., Jarvik, Gail P., Hoppins, Suzanne, Hisama, Fuki M.
Publicado 2023

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

por Amendola, Laura M., Dorschner, Michael O., Robertson, Peggy D., Salama, Joseph S., Hart, Ragan, Shirts, Brian H., Murray, Mitzi L., Tokita, Mari J., Gallego, Carlos J., Kim, Daniel Seung, Bennett, James T., Crosslin, David R., Ranchalis, Jane, Jones, Kelly L., Rosenthal, Elisabeth A., Jarvik, Ella R., Itsara, Andy, Turner, Emily H., Herman, Daniel S., Schleit, Jennifer, Burt, Amber, Jamal, Seema M., Abrudan, Jenica L., Johnson, Andrew D., Conlin, Laura K., Dulik, Matthew C., Santani, Avni, Metterville, Danielle R., Kelly, Melissa, Foreman, Ann Katherine M., Lee, Kristy, Taylor, Kent D., Guo, Xiuqing, Crooks, Kristy, Kiedrowski, Lesli A., Raffel, Leslie J., Gordon, Ora, Machini, Kalotina, Desnick, Robert J., Biesecker, Leslie G., Lubitz, Steven A., Mulchandani, Surabhi, Cooper, Greg M., Joffe, Steven, Richards, C. Sue, Yang, Yaoping, Rotter, Jerome I., Rich, Stephen S., O’Donnell, Christopher J., Berg, Jonathan S., Spinner, Nancy B., Evans, James P., Fullerton, Stephanie M., Leppig, Kathleen A., Bennett, Robin L., Bird, Thomas, Sybert, Virginia P., Grady, William M., Tabor, Holly K., Kim, Jerry H., Bamshad, Michael J., Wilfond, Benjamin, Motulsky, Arno G., Scott, C. Ronald, Pritchard, Colin C., Walsh, Tom D., Burke, Wylie, Raskind, Wendy H., Byers, Peter, Hisama, Fuki M., Rehm, Heidi, Nickerson, Debbie A., Jarvik, Gail P.
Publicado 2015