Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Loren DM"'
Autor:
Shashi, Vandana, Schoch, Kelly, Spillmann, Rebecca, Cope, Heidi, Tan, Queenie K.-G., Walley, Nicole, Pena, Loren, McConkie-Rosell, Allyn, Jiang, Yong-Hui, Stong, Nicholas, Need, Anna C., Goldstein, David B., Adams, David R., Alejandro, Mercedes E., Allard, Patrick, Ashley, Euan A., Azamian, Mahshid S., Bacino, Carlos A., Balasubramanyam, Ashok, Barseghyan, Hayk, Batzli, Gabriel F., Beggs, Alan H., Behnam, Babak, Bellen, Hugo J., Bernstein, Jonathan A., Bican, Anna, Bick, David P., Birch, Camille L., Bonner, Devon, Boone, Braden E., Bostwick, Bret L., Briere, Lauren C., Brown, Donna M., Brush, Matthew, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Chen, Shan, Clark, Gary D., Coakley, Terra R., Cogan, Joy D., Cooper, Cynthia M., Craigen, William J., D’Souza, Precilla, Davids, Mariska, Davidson, Jean M., Dayal, Jyoti G., Dell’Angelica, Esteban C., Dhar, Shweta U., Dipple, Katrina M., Donnell-Fink, Laurel A., Dorrani, Naghmeh, Dorset, Daniel C., Douine, Emilie D., Draper, David D., Dries, Annika M., Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Enns, Gregory M., Eskin, Ascia, Esteves, Cecilia, Estwick, Tyra, Fernandez, Liliana, Ferreira, Carlos, Fisher, Paul G., Fogel, Brent L., Friedman, Noah D., Gahl, William A., Glanton, Emily, Godfrey, Rena A., Gould, Sarah E., Gourdine, Jean-Philippe F., Groden, Catherine A., Gropman, Andrea L., Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A., Handley, Lori H., Herzog, Matthew R., Holm, Ingrid A., Hom, Jason, Howerton, Ellen M., Huang, Yong, Jacob, Howard J., Jain, Mahim, Jiang, Yong-hui, Johnston, Jean M., Jones, Angela L., Koeller, David M., Kohane, Isaac S., Kohler, Jennefer N., Krasnewich, Donna M., Krieg, Elizabeth L., Krier, Joel B., Kyle, Jennifer E., Lalani, Seema R., Lau, C. Christopher, Lazar, Jozef, LeBlanc, Kimberly, Lee, Brendan H., Lee, Hane, Levy, Shawn E., Lewis, Richard A., Lincoln, Sharyn A., Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Majcherska, Marta M., Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Markello, Thomas C., Marom, Ronit, Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, May, Thomas, McCormack, Colleen E., McCray, Alexa T., Merker, Jason D., Metz, Thomas O., Might, Matthew, Moretti, Paolo M., Morimoto, Marie, Mulvihill, John J., Murphy, Jennifer L., Muzny, Donna M., Nehrebecky, Michele E., Nelson, Stan F., Newberry, J. Scott, Newman, John H., Nicholas, Sarah K., Novacic, Donna, Orange, Jordan S., Pallais, J. Carl, Palmer, Christina GS., Papp, Jeanette C., Parker, Neil H., Pena, Loren DM., Phillips, John A., III, Posey, Jennifer E., Postlethwait, John H., Potocki, Lorraine, Pusey, Barbara N., Reuter, Chloe M., Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Sampson, Jacinda B., Samson, Susan L., Schroeder, Molly C., Scott, Daryl A., Sharma, Prashant, Silverman, Edwin K., Sinsheimer, Janet S., Smith, Kevin S., Spillmann, Rebecca C., Stoler, Joan M., Sullivan, Jennifer A., Sweetser, David A., Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Urv, Tiina K., Valivullah, Zaheer M., Vilain, Eric, Vogel, Tiphanie P., Waggott, Daryl M., Wahl, Colleen E., Walley, Nicole M., Walsh, Chris A., Wan, Jijun, Wangler, Michael F., Ward, Patricia A., Waters, Katrina M., Webb-Robertson, Bobbie-Jo M., Westerfield, Monte, Wheeler, Matthew T., Wise, Anastasia L., Wolfe, Lynne A., Worthey, Elizabeth A., Yamamoto, Shinya, Yang, Yaping, Yoon, Amanda J., Yu, Guoyun, Zastrow, Diane B., Zhao, Chunli, Zheng, Allison
Publikováno v:
In Genetics in Medicine January 2019 21(1):161-172
Autor:
Shieh, Christine, Jones, Natasha, Vanle, Brigitte, Au, Margaret, Huang, Alden Y, Silva, Ana PG, Lee, Hane, Douine, Emilie D, Otero, Maria G, Choi, Andrew, Grand, Katheryn, Taff, Ingrid P, Delgado, Mauricio R, Hajianpour, MJ, Seeley, Andrea, Rohena, Luis, Vernon, Hilary, Gripp, Karen W, Vergano, Samantha A, Mahida, Sonal, Naidu, Sakkubai, Sousa, Ana Berta, Wain, Karen E, Challman, Thomas D, Beek, Geoffrey, Basel, Donald, Ranells, Judith, Smith, Rosemarie, Yusupov, Roman, Freckmann, Mary-Louise, Ohden, Lisa, Davis-Keppen, Laura, Chitayat, David, Dowling, James J, Finkel, Richard, Dauber, Andrew, Spillmann, Rebecca, Pena, Loren DM, Undiagnosed Diseases Network, Metcalfe, Kay, Splitt, Miranda, Lachlan, Katherine, McKee, Shane A, Hurst, Jane, Fitzpatrick, David R, Morton, Jenny EV, Cox, Helen, Venkateswaran, Sunita, Young, Juan I, Marsh, Eric D, Nelson, Stanley F, Martinez, Julian A, Graham, John M, Kini, Usha, Mackay, Joel P, Pierson, Tyler Mark
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics, vol 22, iss 5
PurposeDetermination of genotypic/phenotypic features of GATAD2B-associated neurodevelopmental disorder (GAND).MethodsFifty GAND subjects were evaluated to determine consistent genotypic/phenotypic features. Immunoprecipitation assays utilizing in vi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::012a425c4f21d223cfb0c8ce9df2c238
https://escholarship.org/uc/item/7683d0mf
https://escholarship.org/uc/item/7683d0mf
Autor:
Kishnani, Priya S, Gibson, James B, Gambello, Michael J, Hillman, Richard, Stockton, David W, Kronn, David, Leslie, Nancy D, Pena, Loren DM, Tanpaiboon, Pranoot, Day, John W, Wang, Raymond Y, Goldstein, Jennifer L, An Haack, Kristina, Sparks, Susan E, Zhao, Yang, Hahn, Si Houn, Pompe ADVANCE Study Consortium
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics, vol 21, iss 11
PurposeTo characterize clinical characteristics and genotypes of patients in the ADVANCE study of 4000 L-scale alglucosidase alfa (NCT01526785), the largest prospective United States Pompe disease cohort to date.MethodsPatients aged ≥1 year with co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::1cf931951b57cf71d405fbaf412e4a25
https://escholarship.org/uc/item/0z94x25h
https://escholarship.org/uc/item/0z94x25h
Autor:
Kelly, McKenna, Park, Meredith, Mihalek, Ivana, Rochtus, Anne, Gramm, Marie, Perez-Palma, Eduardo, Axeen, Erika Takle, Hung, Christina Y, Olson, Heather, Swanson, Lindsay, Anselm, Irina, Briere, Lauren C, High, Frances A, Sweetser, David A, Kayani, Saima, Snyder, Molly, Calvert, Sophie, Scheffer, Ingrid E, Yang, Edward, Waugh, Jeff L, Lal, Dennis, Bodamer, Olaf, Poduri, Annapurna, Adams, David R, Aday, Aaron, Alejandro, Mercedes E, Allard, Patrick, Ashley, Euan A, Azamian, Mahshid S, Bacino, Carlos A, Baker, Eva, Balasubramanyam, Ashok, Barseghyan, Hayk, Batzli, Gabriel F, Beggs, Alan H, Behnam, Babak, Bellen, Hugo J, Bernstein, Jonathan A, Bican, Anna, Bick, David P, Birch, Camille L, Bonner, Devon, Boone, Braden E, Bostwick, Bret L, Brokamp, Elly, Brown, Donna M, Brush, Matthew, Burke, Elizabeth A, Burrage, Lindsay C, Butte, Manish J, Chen, Shan, Clark, Gary D, Coakley, Terra R, Cogan, Joy D, Colley, Heather A, Cooper, Cynthia M, Cope, Heidi, Craigen, William J, D'Souza, Precilla, Davids, Mariska, Davidson, Jean M, Dayal, Jyoti G, Dell'Angelica, Esteban C, Dhar, Shweta U, Dipple, Katrina M, Donnell-Fink, Laurel A, Dorrani, Naghmeh, Dorset, Daniel C, Douine, Emilie D, Draper, David D, Dries, Annika M, Eckstein, David J, Emrick, Lisa T, Eng, Christine M, Enns, Gre-Gory M, Eskin, Ascia, Esteves, Cecilia, Estwick, Tyra, Fairbrother, Laura, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L, Fisher, Paul G, Fogel, Brent L, Friedman, Noah D, Gahl, William A, Glanton, Emily, Godfrey, Rena A, Goldman, Alica M, Goldstein, David B, Gould, Sarah E, Gourdine, Jean-Philippe F, Groden, Catherine A, Gropman, Andrea L, Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A, High, Francis, Holm, Ingrid A, Horn, Jason, Howerton, Ellen M, Huang, Yong, Jamal, Fariha, Jiang, Yong-hui, Johnston, Jean M, Jones, Angela L, Karaviti, Lefkothea, Koeller, David M, Kohane, Isaac S, Kohler, Jennefer N, Konick, Susan, Koziura, Mary, Krasnewich, Donna M, Krier, Joel B, Kyle, Jennifer E, Lalani, Seema R, Lau, C Christopher, Lazar, Jozef, LeBlanc, Kimberly, Lee, Brendan H, Lee, Hane, Levy, Shawn E, Lewis, Richard A, Lincoln, Sharyn A, Loo, Sandra K, Loscalzo, Joseph, Maas, Richard L, Macnamara, Ellen F, MacRae, Calum A, Maduro, Valerie V, Majch-erska, Marta M, Malicdan, May Christine, Mamounas, Laura A, Manolio, Teri A, Markello, Thomas C, Marom, Ronit, Martin, Martin G, Martinez-Agosto, Julian A, Mar-waha, Shruti, May, Thomas, McConkie-Rosell, Allyn, McCormack, Colleen E, McCray, Alexa F, Merker, Jason D, Metz, Thomas O, Might, Matthew, Moretti, Paolo M, Morimoto, Marie, Mulvihill, John J, Murdock, David R, Murphy, Jennifer L, Muzny, Donna M, Nehrebecky, Michele E, Nelson, Stan F, Newberry, J Scott, Newman, John H, Nicholas, Sarah K, Novacic, Donna, Orange, Jordan S, Orengo, James P, Pallais, J Carl, Palmer, Christina GS, Papp, Jeanette C, Parker, Neil H, Pena, Loren DM, Phillips, John A, Posey, Jennifer E, Postlethwait, John H, Potocki, Lorraine, Pusey, Barbara N, Reuter, Chloe M, Rives, Lynette, Robertson, Amy K, Rodan, Lance H, Rosenfeld, Jill A, Sampson, Jacinda B, Samson, Susan L, Schoch, Kelly, Scott, Daryl A, Shakachite, Lisa, Sharma, Prashant, Shashi, Vandana, Signer, Rebecca, Silverman, Edwin K, Sinsheimer, Janet S, Smith, Kevin S, Spillmann, Rebecca C, Stoler, Joan M, Stong, Nicholas, Sullivan, Jennifer A, Tan, Queenie K-G, Tifft, Cynthia J, Toro, Camilo, Tran, Alyssa A, Urv, Tiina K, Vilain, Eric, Vogel, Tiphanie P, Waggott, Daryl M, Wahl, Colleen E, Walker, Melissa, Walley, Nicole M, Walsh, Chris A, Wan, Jijun, Wangler, Michael F, Ward, Patricia A, Waters, Katrina M, Webb-Robertson, Bobbie-Jo M, Westerfield, Monte, Wheeler, Matthew T, Wise, Anastasia L, Wolfe, Lynne A, Worthey, Elizabeth A, Yamamoto, Shinya, Yang, Yaping, Yoon, Amanda J, Yu, Guoyun, Zastrow, Diane B, Zhao, Chunli, Zheng, Allison
Publikováno v:
Epilepsia, vol 60, iss 3
Epilepsia
Volume 60
Issue 3
Epilepsia
Volume 60
Issue 3
OBJECTIVE: To characterize the phenotypic spectrum associated with GNAO1 variants and establish genotype-protein structure-phenotype relationships. METHODS: We evaluated the phenotypes of 14 patients with GNAO1 variants, analyzed their variants for p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c1b69e09098a81f728c426e3ae47d2d
https://escholarship.org/uc/item/5mv7d47m
https://escholarship.org/uc/item/5mv7d47m
Autor:
Tan, Queenie K-G, Cope, Heidi, Spillmann, Rebecca C, Stong, Nicholas, Jiang, Yong-Hui, McDonald, Marie T, Rothman, Jennifer A, Butler, Megan W, Frush, Donald P, Lachman, Ralph S, Lee, Brendan, Bacino, Carlos A, Bonner, Melanie J, McCall, Chad M, Pendse, Avani A, Walley, Nicole, Undiagnosed Diseases Network, Shashi, Vandana, Pena, Loren DM
Publikováno v:
Cold Spring Harbor molecular case studies, vol 4, iss 5
Recent evidence has implicated EFL1 in a phenotype overlapping Shwachman-Diamond syndrome (SDS), with the functional interplay between EFL1 and the previously known causative gene SBDS accounting for the similarity in clinical features. Relatively li
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::c3a7168ce4b7d9f2cad7be1716b143d7
https://escholarship.org/uc/item/0x70z6sn
https://escholarship.org/uc/item/0x70z6sn
Autor:
Marcogliese, Paul C, Shashi, Vandana, Spillmann, Rebecca C, Stong, Nicholas, Rosenfeld, Jill A, Koenig, Mary Kay, Martínez-Agosto, Julián A, Herzog, Matthew, Chen, Agnes H, Dickson, Patricia I, Lin, Henry J, Vera, Moin U, Salamon, Noriko, Graham, John M, Ortiz, Damara, Infante, Elena, Steyaert, Wouter, Dermaut, Bart, Poppe, Bruce, Chung, Hyung-Lok, Zuo, Zhongyuan, Lee, Pei-Tseng, Kanca, Oguz, Xia, Fan, Yang, Yaping, Smith, Edward C, Jasien, Joan, Kansagra, Sujay, Spiridigliozzi, Gail, El-Dairi, Mays, Lark, Robert, Riley, Kacie, Koeberl, Dwight D, Golden-Grant, Katie, Program for Undiagnosed Diseases (UD-PrOZA), Undiagnosed Diseases Network, Yamamoto, Shinya, Wangler, Michael F, Mirzaa, Ghayda, Hemelsoet, Dimitri, Lee, Brendan, Nelson, Stanley F, Goldstein, David B, Bellen, Hugo J, Pena, Loren DM
Publikováno v:
American journal of human genetics, vol 103, iss 2
Interferon regulatory factor 2 binding protein-like (IRF2BPL) encodes a member of the IRF2BP family of transcriptional regulators. Currently the biological function of this gene is obscure, and the gene has not been associated with a Mendelian diseas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::0b7bd6fa2d238e14e7f4c5120b51780b
https://escholarship.org/uc/item/2sb1c8bg
https://escholarship.org/uc/item/2sb1c8bg
Autor:
Vandana Shashi, Kelly Schoch, Rebecca Spillmann, Heidi Cope, Queenie K.-G. Tan, Nicole Walley, Loren Pena, Allyn McConkie-Rosell, Yong-Hui Jiang, Nicholas Stong, Anna C. Need, David B. Goldstein, David R. Adams, Mercedes E. Alejandro, Patrick Allard, Euan A. Ashley, Mahshid S. Azamian, Carlos A. Bacino, Ashok Balasubramanyam, Hayk Barseghyan, Gabriel F. Batzli, Alan H. Beggs, Babak Behnam, Hugo J. Bellen, Jonathan A. Bernstein, Anna Bican, David P. Bick, Camille L. Birch, Devon Bonner, Braden E. Boone, Bret L. Bostwick, Lauren C. Briere, Donna M. Brown, Matthew Brush, Elizabeth A. Burke, Lindsay C. Burrage, Manish J. Butte, Shan Chen, Gary D. Clark, Terra R. Coakley, Joy D. Cogan, Cynthia M. Cooper, William J. Craigen, Precilla D’Souza, Mariska Davids, Jean M. Davidson, Jyoti G. Dayal, Esteban C. Dell’Angelica, Shweta U. Dhar, Katrina M. Dipple, Laurel A. Donnell-Fink, Naghmeh Dorrani, Daniel C. Dorset, Emilie D. Douine, David D. Draper, Annika M. Dries, David J. Eckstein, Lisa T. Emrick, Christine M. Eng, Gregory M. Enns, Ascia Eskin, Cecilia Esteves, Tyra Estwick, Liliana Fernandez, Carlos Ferreira, Paul G. Fisher, Brent L. Fogel, Noah D. Friedman, William A. Gahl, Emily Glanton, Rena A. Godfrey, Sarah E. Gould, Jean-Philippe F. Gourdine, Catherine A. Groden, Andrea L. Gropman, Melissa Haendel, Rizwan Hamid, Neil A. Hanchard, Lori H. Handley, Matthew R. Herzog, Ingrid A. Holm, Jason Hom, Ellen M. Howerton, Yong Huang, Howard J. Jacob, Mahim Jain, Yong-hui Jiang, Jean M. Johnston, Angela L. Jones, David M. Koeller, Isaac S. Kohane, Jennefer N. Kohler, Donna M. Krasnewich, Elizabeth L. Krieg, Joel B. Krier, Jennifer E. Kyle, Seema R. Lalani, C. Christopher Lau, Jozef Lazar, Kimberly LeBlanc, Brendan H. Lee, Hane Lee, Shawn E. Levy, Richard A. Lewis, Sharyn A. Lincoln, Sandra K. Loo, Joseph Loscalzo, Richard L. Maas, Ellen F. Macnamara, Calum A. MacRae, Valerie V. Maduro, Marta M. Majcherska, May Christine V. Malicdan, Laura A. Mamounas, Teri A. Manolio, Thomas C. Markello, Ronit Marom, Martin G. Martin, Julian A. Martínez-Agosto, Shruti Marwaha, Thomas May, Colleen E. McCormack, Alexa T. McCray, Jason D. Merker, Thomas O. Metz, Matthew Might, Paolo M. Moretti, Marie Morimoto, John J. Mulvihill, Jennifer L. Murphy, Donna M. Muzny, Michele E. Nehrebecky, Stan F. Nelson, J. Scott Newberry, John H. Newman, Sarah K. Nicholas, Donna Novacic, Jordan S. Orange, J. Carl Pallais, Christina GS. Palmer, Jeanette C. Papp, Neil H. Parker, Loren DM. Pena, John A. Phillips, Jennifer E. Posey, John H. Postlethwait, Lorraine Potocki, Barbara N. Pusey, Chloe M. Reuter, Amy K. Robertson, Lance H. Rodan, Jill A. Rosenfeld, Jacinda B. Sampson, Susan L. Samson, Molly C. Schroeder, Daryl A. Scott, Prashant Sharma, Edwin K. Silverman, Janet S. Sinsheimer, Kevin S. Smith, Rebecca C. Spillmann, Joan M. Stoler, Jennifer A. Sullivan, David A. Sweetser, Cynthia J. Tifft, Camilo Toro, Alyssa A. Tran, Tiina K. Urv, Zaheer M. Valivullah, Eric Vilain, Tiphanie P. Vogel, Daryl M. Waggott, Colleen E. Wahl, Nicole M. Walley, Chris A. Walsh, Jijun Wan, Michael F. Wangler, Patricia A. Ward, Katrina M. Waters, Bobbie-Jo M. Webb-Robertson, Monte Westerfield, Matthew T. Wheeler, Anastasia L. Wise, Lynne A. Wolfe, Elizabeth A. Worthey, Shinya Yamamoto, Yaping Yang, Amanda J. Yoon, Guoyun Yu, Diane B. Zastrow, Chunli Zhao, Allison Zheng
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Purpose Sixty-75% of individuals with rare and undiagnosed phenotypes remain undiagnosed after whole exome sequencing (ES). With standard ES reanalysis resolving 10–15% of the ES negatives, further approaches are necessary to maximize diagnoses in
Autor:
Pena, Loren DM, Jiang, Yong-Hui, Schoch, Kelly, Spillmann, Rebecca C, Walley, Nicole, Stong, Nicholas, Rapisardo Horn, Sarah, Sullivan, Jennifer A, McConkie-Rosell, Allyn, Kansagra, Sujay, Smith, Edward C, El-Dairi, Mays, Bellet, Jane, Keels, Martha Ann, Jasien, Joan, Kranz, Peter G, Noel, Richard, Nagaraj, Shashi K, Lark, Robert K, Wechsler, Daniel SG, Del Gaudio, Daniela, Leung, Marco L, Hendon, Laura G, Parker, Collette C, Jones, Kelly L, Undiagnosed Diseases Network Members, Goldstein, David B, Shashi, Vandana
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics, vol 20, iss 4
PurposeTo describe examples of missed pathogenic variants on whole-exome sequencing (WES) and the importance of deep phenotyping for further diagnostic testing.MethodsGuided by phenotypic information, three children with negative WES underwent target
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::ae96ecd2182a06aee1b4dfd6d7fcc6eb
https://escholarship.org/uc/item/1jn52197
https://escholarship.org/uc/item/1jn52197
Akademický článek
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Akademický článek
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