المؤلفون: Soldatos, Ariane, Nutman, Thomas B, Johnson, Tory, Dowell, Scott F, Sejvar, James J, Wilson, Michael R, DeRisi, Joseph L, Inati, Sara K, Groden, Catherine, Evans, Colleen, O'Connell, Elise M, Toliva, Bernard Opar, Aceng, Jane R, Aryek-Kwe, Josephine, Toro, Camilo, Stratakis, Constantine A, Buckler, A Gretchen, Cantilena, Cathy, Palmore, Tara N, Thurm, Audrey, Baker, Eva H, Chang, Richard, Fauni, Harper, Adams, David, Macnamara, Ellen F, Lau, C Christopher, Malicdan, May Christine V, Pusey-Swerdzewski, Barbara, Downing, Robert, Bunga, Sudhir, Thomas, Jerry D, Gahl, William A, Nath, Avindra

المصدر: Brain. 146(3)

مصطلحات موضوعية: Clinical Research, Digestive Diseases, Genetics, Brain Disorders, Rare Diseases, Nutrition, Neurosciences, Human Genome, 2.1 Biological and endogenous factors, Aetiology, Neurological, Good Health and Well Being, United States, Humans, Nodding Syndrome, Cohort Studies, Onchocerciasis, Immunomodulation, Genomics, epilepsy, global health, genetic, autoimmune, infectious, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/90w0f351

المؤلفون: Accogli, Andrea, Calabretta, Sara, St-Onge, Judith, Boudrahem-Addour, Nassima, Dionne-Laporte, Alexandre, Joset, Pascal, Azzarello-Burri, Silvia, Rauch, Anita, Krier, Joel, Fieg, Elizabeth, Pallais, Juan C, Network, Undiagnosed Diseases, Acosta, Maria T, Adams, David R, Agrawal, Pankaj, Alejandro, Mercedes E, Allard, Patrick, Alvey, Justin, Andrews, Ashley, Ashley, Euan A, Azamian, Mahshid S, Bacino, Carlos A, Bademci, Guney, Baker, Eva, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Barbouth, Deborah, Batzli, Gabriel F, Bayrak-Toydemir, Pinar, Beggs, Alan H, Bejerano, Gill, Bellen, Hugo J, Bernstein, Jonathan A, Berry, Gerard T, Bican, Anna, Bick, David P, Birch, Camille L, Bivona, Stephanie, Bohnsack, John, Bonnenmann, Carsten, Bonner, Devon, Boone, Braden E, Bostwick, Bret L, Botto, Lorenzo, Briere, Lauren C, Brokamp, Elly, Brown, Donna M, Brush, Matthew, Burke, Elizabeth A, Burrage, Lindsay C, Butte, Manish J, Carey, John, Carrasquillo, Olveen, Chang, Ta Chen Peter, Chao, Hsiao-Tuan, Clark, Gary D, Coakley, Terra R, Cobban, Laurel A, Cogan, Joy D, Cole, F Sessions, Colley, Heather A, Cooper, Cynthia M, Cope, Heidi, Craigen, William J, D’Souza, Precilla, Dasari, Surendra, Davids, Mariska, Dayal, Jyoti G, Dell’Angelica, Esteban C, Dhar, Shweta U, Dorrani, Naghmeh, Dorset, Daniel C, Douine, Emilie D, Draper, David D, Duncan, Laura, Eckstein, David J, Emrick, Lisa T, Eng, Christine M, Esteves, Cecilia, Estwick, Tyra, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L, Fisher, Paul G, Fogel, Brent L, Forghani, Irman, Fresard, Laure, Gahl, William A, Godfrey, Rena A, Goldman, Alica M, Goldstein, David B, Gourdine, Jean-Philippe F, Grajewski, Alana, Groden, Catherine A, Gropman, Andrea L, Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A, Hayes, Nichole

المصدر: American Journal of Human Genetics. 105(4)

مصطلحات موضوعية: Biochemistry and Cell Biology, Biomedical and Clinical Sciences, Genetics, Biological Sciences, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Axons, Cadherins, Corpus Callosum, Eye, Frameshift Mutation, Genitalia, Heart Defects, Congenital, Heterozygote, Humans, Neurodevelopmental Disorders, Undiagnosed Diseases Network, ACOG, CDH2, N-cadherin, cardiac defects, cell-cell adhesion, corpus callosum, eye defects, genital defects, intellectual disability, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/113843xk

المؤلفون: Shashi, Vandana, Geist, Janelle, Lee, Youngha, Yoo, Yongjin, Shin, Unbeom, Schoch, Kelly, Sullivan, Jennifer, Stong, Nicholas, Smith, Edward, Jasien, Joan, Kranz, Peter, Lee, Yoonsung, Shin, Yong Beom, Wright, Nathan T, Choi, Murim, Kontrogianni‐Konstantopoulos, Aikaterini, Acosta, Maria T, Adams, David R, Aday, Aaron, Alejandro, Mercedes E, Allard, Patrick, Ashley, Euan A, Azamian, Mahshid S, Bacino, Carlos A, Bademci, Guney, Baker, Eva, Balasubramanyam, Ashok, Baldridge, Dustin, Barbouth, Deborah, Batzli, Gabriel F, Beggs, Alan H, Bellen, Hugo J, Bernstein, Jonathan A, Berry, Gerard T, Bican, Anna, Bick, David P, Birch, Camille L, Bivona, Stephanie, Bonnenmann, Carsten, Bonner, Devon, Boone, Braden E, Bostwick, Bret L, Briere, Lauren C, Brokamp, Elly, Brown, Donna M, Brush, Matthew, Burke, Elizabeth A, Burrage, Lindsay C, Butte, Manish J, Carrasquillo, Olveen, Chang, Ta Chen Peter, Chao, Hsiao‐Tuan, Clark, Gary D, Coakley, Terra R, Cobban, Laurel A, Cogan, Joy D, Cole, F Sessions, Colley, Heather A, Cooper, Cynthia M, Cope, Heidi, Craigen, William J, D'Souza, Precilla, Dasari, Surendra, Davids, Mariska, Davidson, Jean M, Dayal, Jyoti G, Dell'Angelica, Esteban C, Dhar, Shweta U, Dorrani, Naghmeh, Dorset, Daniel C, Douine, Emilie D, Draper, David D, Dries, Annika M, Duncan, Laura, Eckstein, David J, Emrick, Lisa T, Eng, Christine M, Enns, Gregory M, Esteves, Cecilia, Estwick, Tyra, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L, Fisher, Paul G, Fogel, Brent L, Forghani, Irman, Friedman, Noah D, Gahl, William A, Godfrey, Rena A, Goldman, Alica M, Goldstein, David B, Gourdine, Jean‐Philippe F, Grajewski, Alana, Groden, Catherine A, Gropman, Andrea L, Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A, High, Frances, Holm, Ingrid A

المصدر: Human Mutation. 40(8)

مصطلحات موضوعية: Biological Sciences, Medical Physiology, Biomedical and Clinical Sciences, Clinical Research, Rare Diseases, Aetiology, 2.1 Biological and endogenous factors, Musculoskeletal, Adult, Arthrogryposis, Carrier Proteins, Child, Fathers, Female, Humans, Infant, Male, Models, Molecular, Mutation, Neuromuscular Diseases, Pedigree, Phenotype, Protein Conformation, Whole Genome Sequencing, arthrogryposis, hypotonia, MYBPC1, myopathy, myosin binding protein-C, tremor, Undiagnosed Diseases Network, Genetics, Clinical Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/44k6m8qw

المؤلفون: Newman, John H, Shaver, Aaron, Sheehan, Jonathan H, Mallal, Simon, Stone, John H, Pillai, Shiv, Bastarache, Lisa, Riebau, Derek, Allard‐Chamard, Hugues, Stone, William M, Perugino, Cory, Pilkinton, Mark, Smith, Scott A, McDonnell, Wyatt J, Capra, John A, Meiler, Jens, Cogan, Joy, Xing, Kelly, Mahajan, Vinay S, Mattoo, Hamid, Hamid, Rizwan, Phillips, John A, Adams, David R, Aday, Aaron, 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, 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, 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, Goldman, Alica M, Goldstein, David B, Gould, Sarah E, Gourdine, Jean‐Philippe F, Groden, Catherine A, Gropman, Andrea L, Haendel, Melissa, Hanchard, Neil A, Handley, Lori H, Herzog, Matthew R, High, Francis, Holm, Ingrid A, Hom, Jason, Howerton, Ellen M, Huang, Yong, Jamal, Fariha, Jiang, Yong‐hui, Johnston, Jean M

المصدر: Molecular Genetics & Genomic Medicine. 7(6)

مصطلحات موضوعية: Biological Sciences, Genetics, Rare Diseases, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Adolescent, CD4-Positive T-Lymphocytes, Genetic Variation, Humans, Immunoglobulin G, Immunoglobulin G4-Related Disease, Male, Middle Aged, T-Lymphocytes, Cytotoxic, cytotoxic lymphocytes, heritable, IgG4-RD, Undiagnosed Disease Network, Medicinal and Biomolecular Chemistry, Clinical Sciences, Medicinal and biomolecular chemistry

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5m28j4dw
https://escholarship.org/content/qt5m28j4dw/qt5m28j4dw.pdf

المؤلفون: 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, Diseases, Program for Undiagnosed, Callens, Steven, Coucke, Paul, Hemelsoet, Dimitri, Terryn, Wim, Van Coster, Rudy, Network, Undiagnosed Diseases, Adams, David R, Alejandro, Mercedes E, Allard, Patrick, Azamian, Mahshid S, Bacino, Carlos A, Balasubramanyam, Ashok, Barseghyan, Hayk, Batzli, Gabriel F, Beggs, Alan H, Behnam, Babak, 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, Chen, Shan, Clark, Gary D, Coakley, Terra R, Cogan, Joy D, Cooper, Cynthia M, Cope, Heidi, Craigen, William J, D’Souza, Precilla, Davids, Mariska, Dayal, Jyoti G, Dell’Angelica, Esteban C, Dhar, Shweta U, Dillon, Ani, Dipple, Katrina M, Donnell-Fink, Laurel A, Dorrani, Naghmeh, Dorset, Daniel C, Douine, Emilie D, Draper, David D, Eckstein, David J, Emrick, Lisa T, Eng, Christine M, Eskin, Ascia, Esteves, Cecilia, Estwick, Tyra, Ferreira, Carlos, Fogel, Brent L, Friedman, Noah D, Gahl, William A, Glanton, Emily, Godfrey, Rena A, Goldstein, David B, Gould, Sarah E, Gourdine, Jean-Philippe F, Groden, Catherine A

المصدر: American Journal of Human Genetics. 103(2)

مصطلحات موضوعية: Neurodegenerative, Brain Disorders, Neurosciences, Human Genome, Genetics, Biotechnology, 2.1 Biological and endogenous factors, Aetiology, Neurological, Program for Undiagnosed Diseases, Undiagnosed Diseases Network, C3HC4 RING finger, CG11138, Drosophila, EAP1, ataxia, developmental regression, hypotonia, neurodegeneration, pits, seizures, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2sb1c8bg

المؤلفون: Shanbhag, Niraj M, Geschwind, Michael D, DiGiovanna, John J, Groden, Catherine, Godfrey, Rena, Yousefzadeh, Matthew J, Wade, Erin A, Niedernhofer, Laura J, Malicdan, May Christine V, Kraemer, Kenneth H, Gahl, William A, Toro, Camilo

المصدر: Neurology. Genetics. 4(3)

مصطلحات موضوعية: Genetics, Neurosciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1tk919mj

المؤلفون: LoRe, Danielle¹, Groden, Catherine M.² catherine.groden@bsd.uchicago.edu, Schuh, Allison R.³, Holmes, Chondraah⁴, Ostilla, Lorena⁵, Vogel, Maggie M.⁶, Murray, Peter D.⁷, Yamasato, Kelly⁸, Tonismae, Tiffany⁹, Anani, Uchenna E.¹⁰, Henner, Natalia⁵, Famuyide, Mobolaji¹¹, Leuthner, Steven R.⁴, Laventhal, Naomi¹², Andrews, Bree Landis³, Tucker Edmonds, Brownsyne M.¹³, Brennan, Kathleen G.¹, Feltman, Dalia M.¹⁴

المصدر: Pediatrics. Sep2024, Vol. 154 Issue 3, p1-9. 9p.

مصطلحات موضوعية: *VERY low birth weight, *ADRENOCORTICAL hormones, *CESAREAN section, *RESEARCH funding, *NEONATOLOGY, *DATA analysis, *PREMATURE infants, *FISHER exact test, *MULTIPLE regression analysis, *RETROSPECTIVE studies, *RESUSCITATION, *MULTIVARIATE analysis, *CHI-squared test, *MANN Whitney U Test, *PEDIATRICS, *PRENATAL care, *RACE, *LONGITUDINAL method, *ODDS ratio, *GESTATIONAL age, *RESEARCH, *STATISTICS, *BIRTH weight, *CONFIDENCE intervals, *DATA analysis software, *MEDICAL referrals, *CHILDBIRTH, *OVERALL survival, *BIRTHING centers

مصطلحات جغرافية: UNITED States

المؤلفون: Groden, Catherine M., Raed, Mona, Helft, Paul, Allen, Jayme D.

المصدر: Journal of Perinatology ; ISSN 0743-8346 1476-5543

الاتاحة: http://dx.doi.org/10.1038/s41372-024-01930-6
https://www.nature.com/articles/s41372-024-01930-6.pdf
https://www.nature.com/articles/s41372-024-01930-6

المؤلفون: Ferdinandusse, Sacha, McWalter, Kirsty, te Brinke, Heleen, IJlst, Lodewijk, Mooijer, Petra M., Ruiter, Jos P.N., van Lint, Alida E.M., Pras-Raves, Mia, Wever, Eric, Millan, Francisca, Guillen Sacoto, Maria J., Begtrup, Amber, Tarnopolsky, Mark, Brady, Lauren, Ladda, Roger L., Sell, Susan L., Nowak, Catherine B., Douglas, Jessica, Tian, Cuixia, Ulm, Elizabeth, Perlman, Seth, Drack, Arlene V., Chong, Karen, Martin, Nicole, Brault, Jennifer, Brokamp, Elly, Toro, Camilo, Gahl, William A., Macnamara, Ellen F., Wolfe, Lynne A., Alejandro, Mercedes E., Azamian, Mahshid S., Bacino, Carlos A., Balasubramanyam, Ashok, Burrage, Lindsay C., Chao, Hsiao Tuan, Clark, Gary D., Craigen, William J., Dai, Hongzheng, Dhar, Shweta U., Emrick, Lisa T., Goldman, Alica M., Hanchard, Neil A., Jamal, Fariha, Karaviti, Lefkothea, Lalani, Seema R., Lee, Brendan H., Lewis, Richard A., Marom, Ronit, Moretti, Paolo, Murdock, David R., Nicholas, Sarah K., Orengo, James P., Posey, Jennifer E., Potocki, Lorraine, Rosenfeld, Jill A., Samson, Susan L., Scott, Daryl A., Tran, Alyssa A., Vogel, Tiphanie P., Wangler, Michael F., Yamamoto, Shinya, Eng, Christine M., Liu, Pengfei, Ward, Patricia A., Behrens, Edward, Deardorff, Matthew, Falk, Marni, Hassey, Kelly, Sullivan, Kathleen, Vanderver, Adeline, Goldstein, David B., Cope, Heidi, McConkie-Rosell, Allyn, Schoch, Kelly, Shashi, Vandana, Smith, Edward C., Spillmann, Rebecca C., Sullivan, Jennifer A., Tan, Queenie K.G., Walley, Nicole M., Agrawal, Pankaj B., Beggs, Alan H., Berry, Gerard T., Briere, Lauren C., Cobban, Laurel A., Coggins, Matthew, Cooper, Cynthia M., Fieg, Elizabeth L., High, Frances, Holm, Ingrid A., Korrick, Susan, Krier, Joel B., Lincoln, Sharyn A., Loscalzo, Joseph, Maas, Richard L., MacRae, Calum A., Pallais, J. Carl, Rao, Deepak A., Rodan, Lance H., Silverman, Edwin K., Stoler, Joan M., Sweetser, David A., Walker, Melissa, Walsh, Chris A., Esteves, Cecilia, Kelley, Emily G., Kohane, Isaac S., LeBlanc, Kimberly, McCray, Alexa T., Nagy, Anna, Dasari, Surendra, Lanpher, Brendan C., Lanza, Ian R., Morava, Eva, Oglesbee, Devin, Bademci, Guney, Barbouth, Deborah, Bivona, Stephanie, Carrasquillo, Olveen, Chang, Ta Chen Peter, Forghani, Irman, Grajewski, Alana, Isasi, Rosario, Lam, Byron, Levitt, Roy, Liu, Xue Zhong, McCauley, Jacob, Sacco, Ralph, Saporta, Mario, Schaechter, Judy, Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Zuchner, Stephan, Colley, Heather A., Dayal, Jyoti G., Eckstein, David J., Findley, Laurie C., Krasnewich, Donna M., Mamounas, Laura A., Manolio, Teri A., Mulvihill, John J., LaMoure, Grace L., Goldrich, Madison P., Urv, Tiina K., Doss, Argenia L., Acosta, Maria T., Bonnenmann, Carsten, D’Souza, Precilla, Draper, David D., Ferreira, Carlos, Godfrey, Rena A., Groden, Catherine A., Maduro, Valerie V., Markello, Thomas C., Nath, Avi, Novacic, Donna, Pusey, Barbara N., Wahl, Colleen E., Baker, Eva, Burke, Elizabeth A., Adams, David R., Malicdan, May Christine V., Tifft, Cynthia J., Yang, John, Power, Bradley, Gochuico, Bernadette, Huryn, Laryssa, Latham, Lea, Davis, Joie, Mosbrook-Davis, Deborah, Rossignol, Francis, Solomon, Ben, MacDowall, John, Thurm, Audrey, Zein, Wadih, Yousef, Muhammad, Adam, Margaret, Amendola, Laura, Bamshad, Michael, Beck, Anita, Bennett, Jimmy, Berg-Rood, Beverly, Blue, Elizabeth, Boyd, Brenna, Byers, Peter, Chanprasert, Sirisak, Cunningham, Michael, Dipple, Katrina, Doherty, Daniel, Earl, Dawn, Glass, Ian, Golden-Grant, Katie, Hahn, Sihoun, Hing, Anne, Hisama, Fuki M., Horike-Pyne, Martha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Lam, Christina, Maravilla, Kenneth, Mefford, Heather, Merritt, J. Lawrence, Mirzaa, Ghayda, Nickerson, Deborah, Raskind, Wendy, Rosenwasser, Natalie, Scott, C. Ron, Sun, Angela, Sybert, Virginia, Wallace, Stephanie, Wener, Mark, Wenger, Tara, Ashley, Euan A., Bejerano, Gill, Bernstein, Jonathan A., Bonner, Devon, Coakley, Terra R., Fernandez, Liliana, Fisher, Paul G., Fresard, Laure, Hom, Jason, Huang, Yong, Kohler, Jennefer N., Kravets, Elijah, Majcherska, Marta M., Martin, Beth A., Marwaha, Shruti, McCormack, Colleen E., Raja, Archana N., Reuter, Chloe M., Ruzhnikov, Maura, Sampson, Jacinda B., Smith, Kevin S., Sutton, Shirley, Tabor, Holly K., Tucker, Brianna M., Wheeler, Matthew T., Zastrow, Diane B., Zhao, Chunli, Byrd, William E., Crouse, Andrew B., Might, Matthew, Nakano-Okuno, Mariko, Whitlock, Jordan, Brown, Gabrielle, Butte, Manish J., Dell’Angelica, Esteban C., Dorrani, Naghmeh, Douine, Emilie D., Fogel, Brent L., Gutierrez, Irma, Huang, Alden, Krakow, Deborah, Lee, Hane, Loo, Sandra K., Mak, Bryan C., Martin, Martin G., Martínez-Agosto, Julian A., McGee, Elisabeth, Nelson, Stanley F., Nieves-Rodriguez, Shirley, Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Renteria, Genecee, Signer, Rebecca H., Sinsheimer, Janet S., Wan, Jijun, Wang, Lee kai, Perry, Katherine Wesseling, Woods, Jeremy D., Alvey, Justin, Andrews, Ashley, Bale, Jim, Bohnsack, John, Botto, Lorenzo, Carey, John, Pace, Laura, Longo, Nicola, Marth, Gabor, Quinlan, Aaron, Velinder, Matt, Viskochil, Dave, Bayrak-Toydemir, Pinar, Mao, Rong, Westerfield, Monte, Bican, Anna, Duncan, Laura, Hamid, Rizwan, Kennedy, Jennifer, Kozuira, Mary, Newman, John H., Phillips, John A., Rives, Lynette, Robertson, Amy K., Solem, Emily, Cogan, Joy D., Cole, F. Sessions, Hayes, Nichole, Kiley, Dana, Sisco, Kathy, Wambach, Jennifer, Wegner, Daniel, Baldridge, Dustin, Pak, Stephen, Schedl, Timothy, Shin, Jimann, Solnica-Krezel, Lilianna, Waisfisz, Quinten, Zwijnenburg, Petra J.G., Ziegler, Alban, Barth, Magalie, Smith, Rosemarie, Ellingwood, Sara, Gaebler-Spira, Deborah, Bakhtiari, Somayeh, Kruer, Michael C., van Kampen, Antoine H.C., Wanders, Ronald J.A., Waterham, Hans R., Cassiman, David, Vaz, Frédéric M.

المصدر: Ferdinandusse , S , McWalter , K , te Brinke , H , IJlst , L , Mooijer , P M , Ruiter , J P N , van Lint , A E M , Pras-Raves , M , Wever , E , Millan , F , Guillen Sacoto , M J , Begtrup , A , Tarnopolsky , M , Brady , L , Ladda , R L , Sell , S L , Nowak , C B , Douglas , J , Tian , C , Ulm , E , Perlman , S , Drack , A ....

الاتاحة: https://research.vumc.nl/en/publications/51c15301-9b33-479b-880d-cecb2f229a1f
https://doi.org/10.1038/s41436-021-01189-8
http://www.scopus.com/inward/record.url?scp=85117474876&partnerID=8YFLogxK

المؤلفون: Ferdinandusse, Sacha, McWalter, Kirsty, te Brinke, Heleen, IJlst, Lodewijk, Mooijer, Petra M., Ruiter, Jos P.N., van Lint, Alida E.M., Pras-Raves, Mia, Wever, Eric, Millan, Francisca, Guillen Sacoto, Maria J., Begtrup, Amber, Tarnopolsky, Mark, Brady, Lauren, Ladda, Roger L., Sell, Susan L., Nowak, Catherine B., Douglas, Jessica, Tian, Cuixia, Ulm, Elizabeth, Perlman, Seth, Drack, Arlene V., Chong, Karen, Martin, Nicole, Brault, Jennifer, Brokamp, Elly, Toro, Camilo, Gahl, William A., Macnamara, Ellen F., Wolfe, Lynne A., Alejandro, Mercedes E., Azamian, Mahshid S., Bacino, Carlos A., Balasubramanyam, Ashok, Burrage, Lindsay C., Chao, Hsiao Tuan, Clark, Gary D., Craigen, William J., Dai, Hongzheng, Dhar, Shweta U., Emrick, Lisa T., Goldman, Alica M., Hanchard, Neil A., Jamal, Fariha, Karaviti, Lefkothea, Lalani, Seema R., Lee, Brendan H., Lewis, Richard A., Marom, Ronit, Moretti, Paolo, Murdock, David R., Nicholas, Sarah K., Orengo, James P., Posey, Jennifer E., Potocki, Lorraine, Rosenfeld, Jill A., Samson, Susan L., Scott, Daryl A., Tran, Alyssa A., Vogel, Tiphanie P., Wangler, Michael F., Yamamoto, Shinya, Eng, Christine M., Liu, Pengfei, Ward, Patricia A., Behrens, Edward, Deardorff, Matthew, Falk, Marni, Hassey, Kelly, Sullivan, Kathleen, Vanderver, Adeline, Goldstein, David B., Cope, Heidi, McConkie-Rosell, Allyn, Schoch, Kelly, Shashi, Vandana, Smith, Edward C., Spillmann, Rebecca C., Sullivan, Jennifer A., Tan, Queenie K.G., Walley, Nicole M., Agrawal, Pankaj B., Beggs, Alan H., Berry, Gerard T., Briere, Lauren C., Cobban, Laurel A., Coggins, Matthew, Cooper, Cynthia M., Fieg, Elizabeth L., High, Frances, Holm, Ingrid A., Korrick, Susan, Krier, Joel B., Lincoln, Sharyn A., Loscalzo, Joseph, Maas, Richard L., MacRae, Calum A., Pallais, J. Carl, Rao, Deepak A., Rodan, Lance H., Silverman, Edwin K., Stoler, Joan M., Sweetser, David A., Walker, Melissa, Walsh, Chris A., Esteves, Cecilia, Kelley, Emily G., Kohane, Isaac S., LeBlanc, Kimberly, McCray, Alexa T., Nagy, Anna, Dasari, Surendra, Lanpher, Brendan C., Lanza, Ian R., Morava, Eva, Oglesbee, Devin, Bademci, Guney, Barbouth, Deborah, Bivona, Stephanie, Carrasquillo, Olveen, Chang, Ta Chen Peter, Forghani, Irman, Grajewski, Alana, Isasi, Rosario, Lam, Byron, Levitt, Roy, Liu, Xue Zhong, McCauley, Jacob, Sacco, Ralph, Saporta, Mario, Schaechter, Judy, Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Zuchner, Stephan, Colley, Heather A., Dayal, Jyoti G., Eckstein, David J., Findley, Laurie C., Krasnewich, Donna M., Mamounas, Laura A., Manolio, Teri A., Mulvihill, John J., LaMoure, Grace L., Goldrich, Madison P., Urv, Tiina K., Doss, Argenia L., Acosta, Maria T., Bonnenmann, Carsten, D’Souza, Precilla, Draper, David D., Ferreira, Carlos, Godfrey, Rena A., Groden, Catherine A., Maduro, Valerie V., Markello, Thomas C., Nath, Avi, Novacic, Donna, Pusey, Barbara N., Wahl, Colleen E., Baker, Eva, Burke, Elizabeth A., Adams, David R., Malicdan, May Christine V., Tifft, Cynthia J., Yang, John, Power, Bradley, Gochuico, Bernadette, Huryn, Laryssa, Latham, Lea, Davis, Joie, Mosbrook-Davis, Deborah, Rossignol, Francis, Solomon, Ben, MacDowall, John, Thurm, Audrey, Zein, Wadih, Yousef, Muhammad, Adam, Margaret, Amendola, Laura, Bamshad, Michael, Beck, Anita, Bennett, Jimmy, Berg-Rood, Beverly, Blue, Elizabeth, Boyd, Brenna, Byers, Peter, Chanprasert, Sirisak, Cunningham, Michael, Dipple, Katrina, Doherty, Daniel, Earl, Dawn, Glass, Ian, Golden-Grant, Katie, Hahn, Sihoun, Hing, Anne, Hisama, Fuki M., Horike-Pyne, Martha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Lam, Christina, Maravilla, Kenneth, Mefford, Heather, Merritt, J. Lawrence, Mirzaa, Ghayda, Nickerson, Deborah, Raskind, Wendy, Rosenwasser, Natalie, Scott, C. Ron, Sun, Angela, Sybert, Virginia, Wallace, Stephanie, Wener, Mark, Wenger, Tara, Ashley, Euan A., Bejerano, Gill, Bernstein, Jonathan A., Bonner, Devon, Coakley, Terra R., Fernandez, Liliana, Fisher, Paul G., Fresard, Laure, Hom, Jason, Huang, Yong, Kohler, Jennefer N., Kravets, Elijah, Majcherska, Marta M., Martin, Beth A., Marwaha, Shruti, McCormack, Colleen E., Raja, Archana N., Reuter, Chloe M., Ruzhnikov, Maura, Sampson, Jacinda B., Smith, Kevin S., Sutton, Shirley, Tabor, Holly K., Tucker, Brianna M., Wheeler, Matthew T., Zastrow, Diane B., Zhao, Chunli, Byrd, William E., Crouse, Andrew B., Might, Matthew, Nakano-Okuno, Mariko, Whitlock, Jordan, Brown, Gabrielle, Butte, Manish J., Dell’Angelica, Esteban C., Dorrani, Naghmeh, Douine, Emilie D., Fogel, Brent L., Gutierrez, Irma, Huang, Alden, Krakow, Deborah, Lee, Hane, Loo, Sandra K., Mak, Bryan C., Martin, Martin G., Martínez-Agosto, Julian A., McGee, Elisabeth, Nelson, Stanley F., Nieves-Rodriguez, Shirley, Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Renteria, Genecee, Signer, Rebecca H., Sinsheimer, Janet S., Wan, Jijun, Wang, Lee kai, Perry, Katherine Wesseling, Woods, Jeremy D., Alvey, Justin, Andrews, Ashley, Bale, Jim, Bohnsack, John, Botto, Lorenzo, Carey, John, Pace, Laura, Longo, Nicola, Marth, Gabor, Quinlan, Aaron, Velinder, Matt, Viskochil, Dave, Bayrak-Toydemir, Pinar, Mao, Rong, Westerfield, Monte, Bican, Anna, Duncan, Laura, Hamid, Rizwan, Kennedy, Jennifer, Kozuira, Mary, Newman, John H., Phillips, John A., Rives, Lynette, Robertson, Amy K., Solem, Emily, Cogan, Joy D., Cole, F. Sessions, Hayes, Nichole, Kiley, Dana, Sisco, Kathy, Wambach, Jennifer, Wegner, Daniel, Baldridge, Dustin, Pak, Stephen, Schedl, Timothy, Shin, Jimann, Solnica-Krezel, Lilianna, Waisfisz, Quinten, Zwijnenburg, Petra J.G., Ziegler, Alban, Barth, Magalie, Smith, Rosemarie, Ellingwood, Sara, Gaebler-Spira, Deborah, Bakhtiari, Somayeh, Kruer, Michael C., van Kampen, Antoine H.C., Wanders, Ronald J.A., Waterham, Hans R., Cassiman, David, Vaz, Frédéric M.

المصدر: Ferdinandusse , S , McWalter , K , te Brinke , H , IJlst , L , Mooijer , P M , Ruiter , J P N , van Lint , A E M , Pras-Raves , M , Wever , E , Millan , F , Guillen Sacoto , M J , Begtrup , A , Tarnopolsky , M , Brady , L , Ladda , R L , Sell , S L , Nowak , C B , Douglas , J , Tian , C , Ulm , E , Perlman , S , Drack , A ....

الاتاحة: https://research.vumc.nl/en/publications/fb984bc3-54bd-43df-883f-07db1704516c
https://doi.org/10.1038/s41436-020-01027-3
http://www.scopus.com/inward/record.url?scp=85096552716&partnerID=8YFLogxK

المؤلفون: Rodan, Lance, Spillmann, Rebecca, Kurata, Harley, Lamothe, Shawn, Maghera, Jasmine, Jamra, Rami Abou, Alkelai, Anna, Antonarakis, Stylianos, Atallah, Isis, Bar-Yosef, Omer, Bilan, Frédéric, Bjorgo, Kathrine, Blanc, Xavier, van Bogaert, Patrick, Bolkier, Yoav, Burrage, Lindsay, Christ, Björn, Granadillo, Jorge, Dickson, Patricia, Donald, Kirsten, Dubourg, Christèle, Eliyahu, Aviva, Emrick, Lisa, Engleman, Kendra, Gonfiantini, Michaela Veronika, Good, Jean-Marc, Kalser, Judith, Kloeckner, Chiara, Lachmeijer, Guus, Macchiaiolo, Marina, Nicita, Francesco, Odent, Sylvie, O’heir, Emily, Ortiz-Gonzalez, Xilma, Pacio-Miguez, Marta, Palomares-Bralo, María, Pena, Loren, Platzer, Konrad, Quinodoz, Mathieu, Ranza, Emmanuelle, Rosenfeld, Jill, Roulet-Perez, Eliane, Santani, Avni, Santos-Simarro, Fernando, Pode-Shakked, Ben, Skraban, Cara, Slaugh, Rachel, Superti-Furga, Andrea, Thiffault, Isabelle, van Jaabrsveld, Richard, Vincent, Marie, Wang, Hong-Gang, Zacher, Pia, Alejandro, Mercedes, Azamian, Mahshid, Bacino, Carlos, Balasubramanyam, Ashok, Chao, Hsiao-Tuan, Clark, Gary, Craigen, William, Dai, Hongzheng, Dhar, Shweta, Goldman, Alica, Hanchard, Neil, Jamal, Fariha, Karaviti, Lefkothea, Lalani, Seema, Lee, Brendan, Lewis, Richard, Marom, Ronit, Moretti, Paolo, Murdock, David, Nicholas, Sarah, Orengo, James, Posey, Jennifer, Potocki, Lorraine, Samson, Susan, Scott, Daryl, Tran, Alyssa, Vogel, Tiphanie, Wangler, Michael, Yamamoto, Shinya, Eng, Christine, Liu, Pengfei, Ward, Patricia, Behrens, Edward, Deardorff, Matthew, Falk, Marni, Hassey, Kelly, Sullivan, Kathleen, Vanderver, Adeline, Goldstein, David, Cope, Heidi, Mcconkie-Rosell, Allyn, Schoch, Kelly, Shashi, Vandana, Smith, Edward, Sullivan, Jennifer, Tan, Queenie K.-G., Walley, Nicole, Agrawal, Pankaj, Beggs, Alan, Berry, Gerard, Briere, Lauren, Cobban, Laurel, Coggins, Matthew, Cooper, Cynthia, Fieg, Elizabeth, High, Frances, Holm, Ingrid, Korrick, Susan, Krier, Joel, Lincoln, Sharyn, Loscalzo, Joseph, Maas, Richard, Macrae, Calum, Pallais, J. Carl, Rao, Deepak, Silverman, Edwin, Stoler, Joan, Sweetser, David, Walker, Melissa, Walsh, Chris, Esteves, Cecilia, Kelley, Emily, Kohane, Isaac, Leblanc, Kimberly, Mccray, Alexa, Nagy, Anna, Dasari, Surendra, Lanpher, Brendan, Lanza, Ian, Morava, Eva, Oglesbee, Devin, Bademci, Guney, Barbouth, Deborah, Bivona, Stephanie, Carrasquillo, Olveen, Chang, Ta Chen Peter, Forghani, Irman, Grajewski, Alana, Isasi, Rosario, Lam, Byron, Levitt, Roy, Liu, Xue Zhong, Mccauley, Jacob, Sacco, Ralph, Saporta, Mario, Schaechter, Judy, Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Zuchner, Stephan, Colley, Heather, Dayal, Jyoti, Eckstein, David, Findley, Laurie, Krasnewich, Donna, Mamounas, Laura, Manolio, Teri, Mulvihill, John, Lamoure, Grace, Goldrich, Madison, Urv, Tiina, Doss, Argenia, Acosta, Maria, Bonnenmann, Carsten, D’souza, Precilla, Draper, David, Ferreira, Carlos, Godfrey, Rena, Groden, Catherine, Macnamara, Ellen, Maduro, Valerie, Markello, Thomas, Nath, Avi, Novacic, Donna, Pusey, Barbara, Toro, Camilo, Wahl, Colleen, Baker, Eva, Burke, Elizabeth, Adams, David, Gahl, William, Malicdan, May Christine V., Tifft, Cynthia, Wolfe, Lynne, Yang, John, Power, Bradley, Gochuico, Bernadette, Huryn, Laryssa, Latham, Lea, Davis, Joie, Mosbrook-Davis, Deborah, Rossignol, Francis, Solomon, Ben, Macdowall, John, Thurm, Audrey, Zein, Wadih, Yousef, Muhammad, Adam, Margaret, Amendola, Laura, Bamshad, Michael, Beck, Anita, Bennett, Jimmy, Berg-Rood, Beverly, Blue, Elizabeth, Boyd, Brenna, Byers, Peter, Chanprasert, Sirisak, Cunningham, Michael, Dipple, Katrina, Doherty, Daniel, Earl, Dawn, Glass, Ian, Golden-Grant, Katie, Hahn, Sihoun, Hing, Anne, Hisama, Fuki, Horike-Pyne, Martha, Jarvik, Gail, Jarvik, Jeffrey, Jayadev, Suman, Lam, Christina, Maravilla, Kenneth, Mefford, Heather, Merritt, J. Lawrence, Mirzaa, Ghayda, Nickerson, Deborah, Raskind, Wendy, Rosenwasser, Natalie, Scott, C. Ron, Sun, Angela, Sybert, Virginia, Wallace, Stephanie, Wener, Mark, Wenger, Tara, Ashley, Euan, Bejerano, Gill, Bernstein, Jonathan, Bonner, Devon, Coakley, Terra, Fernandez, Liliana, Fisher, Paul, Fresard, Laure, Hom, Jason, Huang, Yong, Kohler, Jennefer, Kravets, Elijah, Majcherska, Marta, Martin, Beth, Marwaha, Shruti, Mccormack, Colleen, Raja, Archana, Reuter, Chloe, Ruzhnikov, Maura, Sampson, Jacinda, Smith, Kevin, Sutton, Shirley, Tabor, Holly, Tucker, Brianna, Wheeler, Matthew, Zastrow, Diane, Zhao, Chunli, Byrd, William, Crouse, Andrew, Might, Matthew, Nakano-Okuno, Mariko, Whitlock, Jordan, Brown, Gabrielle, Butte, Manish, Dell’angelica, Esteban, Dorrani, Naghmeh, Douine, Emilie, Fogel, Brent, Gutierrez, Irma, Huang, Alden, Krakow, Deborah, Lee, Hane, Loo, Sandra, Mak, Bryan, Martin, Martin, Martínez-Agosto, Julian, Mcgee, Elisabeth, Nelson, Stanley, Nieves-Rodriguez, Shirley, Palmer, Christina G.S., Papp, Jeanette, Parker, Neil, Renteria, Genecee, Signer, Rebecca, Sinsheimer, Janet, Wan, Jijun, Wang, Lee-Kai, Perry, Katherine Wesseling, Woods, Jeremy, Alvey, Justin, Andrews, Ashley, Bale, Jim, Bohnsack, John, Botto, Lorenzo, Carey, John, Pace, Laura, Longo, Nicola, Marth, Gabor, Quinlan, Aaron, Velinder, Matt, Viskochil, Dave, Bayrak-Toydemir, Pinar, Mao, Rong, Westerfield, Monte, Bican, Anna, Brokamp, Elly, Duncan, Laura, Hamid, Rizwan, Kennedy, Jennifer, Kozuira, Mary, Newman, John, Phillipsiii, John, Rives, Lynette, Robertson, Amy, Solem, Emily, Cogan, Joy, Cole, F. Sessions, Hayes, Nichole, Kiley, Dana, Sisco, Kathy, Wambach, Jennifer, Wegner, Daniel, Baldridge, Dustin, Pak, Stephen, Schedl, Timothy, Shin, Jimann, Solnica-Krezel, Lilianna, Rush, Eric, Pitt, Geoffrey, Au, Ping Yee Billie

المساهمون: Boston Children's Hospital, Duke University Durham, University of Alberta, Leipzig University / Universität Leipzig, Columbia University Medical Center (CUMC), Columbia University New York, Geneva University Hospital (HUG), Tel Aviv University (TAU), Service de Génétique Médicale CHU Poitiers, Centre hospitalier universitaire de Poitiers = Poitiers University Hospital (CHU de Poitiers La Milétrie ), Cibles moléculaires et thérapeutiques de la maladie d'Alzheimer EA 3808 (CIMoTHeMA Poitiers ), Université de Poitiers = University of Poitiers (UP), Laboratoire Jacques-Louis Lions (LJLL (UMR_7598)), Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Baylor College of Medicine (BCM), Baylor University, Washington University School of Medicine in St. Louis, Washington University in Saint Louis (WUSTL), Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou, Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Istituti di Ricovero e Cura a Carattere Scientifico (IRCCS), Centre Hospitalier Universitaire Vaudois = Lausanne University Hospital Lausanne (CHUV), Centre de référence Maladies Rares CLAD-Ouest Rennes, Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School Boston (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital Boston, Children’s Hospital of Philadelphia (CHOP ), Hospital Universitario La Paz, ITX - unité de recherche de l'institut du thorax (ITX), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), University of Kansas Medical Center Kansas City, KS, USA, University of Missouri System, Children's Mercy Hospital Kansas City, Weill Cornell Medicine Cornell University, Cornell University New York, University of Calgary, Research reported in this paper was supported by the NIH Common Fund, through the Office of Strategic Coordination/Office of the NIH Director under award number(s) (U01HG007709 Baylor College of Medicine and U01HG007672 Duke University to V.S. ). Additional funding for this project was under award number 1RO1HD090132-01A1 (Cornell University to G.P.). The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. Additional funding was provided by a Canadian Institutes of Health Research Grant (MOP-97988 to H.T.K.), and a Rowland and Muriel Haryett Fellowship (University of Alberta, to S.M.L.) and a fellowship from the Ministry of Education and Research of the Community of Madrid to M.P.M. (B2017/BMD-3721), and microgrant from the Rare Disease Foundation (P.Y.B.A. and H.T.K.). Sequencing and analysis was supported by the National Human Genome Research Institute grants UM1 HG008900 and R01 HG009141. K.A.D., B.C., and E.O. were supported the National Institute of Mental Health U01 MH119689.

المصدر: ISSN: 1098-3600.

مصطلحات موضوعية: [SDV.GEN]Life Sciences [q-bio]/Genetics

Relation: info:eu-repo/semantics/altIdentifier/pmid/34163037; hal-03519600; https://univ-rennes.hal.science/hal-03519600; https://univ-rennes.hal.science/hal-03519600/document; https://univ-rennes.hal.science/hal-03519600/file/Rodan%20et%20al%20-%202021%20-%20Phenotypic%20expansion%20of%20CACNA1C-associated%20disorders_CACNA1C_GIM_Revisions_Clean_Final.pdf; PUBMED: 34163037

الاتاحة: https://univ-rennes.hal.science/hal-03519600
https://univ-rennes.hal.science/hal-03519600/document
https://univ-rennes.hal.science/hal-03519600/file/Rodan%20et%20al%20-%202021%20-%20Phenotypic%20expansion%20of%20CACNA1C-associated%20disorders_CACNA1C_GIM_Revisions_Clean_Final.pdf
https://doi.org/10.1038/s41436-021-01232-8

المؤلفون: Xiao, Changrui, Markello, Thomas, Zein, Wadih M., Bishop, Rachel, Groden, Catherine, Gahl, William, Toro, Camilo

المصدر: Neurology Genetics ; volume 7, issue 4 ; ISSN 2376-7839

الاتاحة: http://dx.doi.org/10.1212/nxg.0000000000000606
https://www.neurology.org/doi/pdfdirect/10.1212/NXG.0000000000000606

المؤلفون: Groden, Catherine M., Vetter, Cecelia J., Salih, Zeynep N. I.

المصدر: NeoReviews; Mar2024, Vol. 25 Issue 3, pe151-e158, 8p

المؤلفون: Daich Varela, Malena, Zein, Wadih M, Toro, Camilo, Groden, Catherine, Johnston, Jean, Huryn, Laryssa A, d’Azzo, Alessandra, Tifft, Cynthia J, FitzGibbon, Edmond J

المصدر: British Journal of Ophthalmology ; volume 105, issue 6, page 838-843 ; ISSN 0007-1161 1468-2079

الاتاحة: http://dx.doi.org/10.1136/bjophthalmol-2020-316826
https://syndication.highwire.org/content/doi/10.1136/bjophthalmol-2020-316826

المؤلفون: Kuo, Molly E., Theil, Arjan F., Kievit, Anneke, Malicdan, May Christine, Introne, Wendy J., Christian, Thomas, Verheijen, Frans W., Smith, Desiree E. C., Mendes, Marisa I., Hussaarts-Odijk, Lidia, van der Meijden, Eric, van Slegtenhorst, Marjon, Wilke, Martina, Vermeulen, Wim, Raams, Anja, Groden, Catherine, Shimada, Shino, Meyer-Schuman, Rebecca, Hou, Ya Ming, Gahl, William A., Antonellis, Anthony, Salomons, Gajja S., Mancini, Grazia M. S.

المصدر: Kuo , M E , Theil , A F , Kievit , A , Malicdan , M C , Introne , W J , Christian , T , Verheijen , F W , Smith , D E C , Mendes , M I , Hussaarts-Odijk , L , van der Meijden , E , van Slegtenhorst , M , Wilke , M , Vermeulen , W , Raams , A , Groden , C , Shimada , S , Meyer-Schuman , R , Hou , Y M , Gahl , W A , Antonellis , A , Salomons , ....

الاتاحة: https://research.vumc.nl/en/publications/26c70f34-2e62-4c6c-9791-557e2eda3def
https://doi.org/10.1016/j.ajhg.2019.01.006
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85062280875&origin=inward
https://www.ncbi.nlm.nih.gov/pubmed/30824121

المؤلفون: Taveira-DaSilva, Angelo M, Markello, Thomas C, Kleiner, David E, Jones, Amanda M, Groden, Catherine, Macnamara, Ellen, Yokoyama, Tadafumi, Gahl, William A, Gochuico, Bernadette R, Moss, Joel

مصطلحات موضوعية: Phenotypes

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/56/11/778; http://dx.doi.org/10.1136/jmedgenet-2018-105560

الاتاحة: http://jmg.bmj.com/cgi/content/short/56/11/778
https://doi.org/10.1136/jmedgenet-2018-105560

المؤلفون: Geng, Linda N, Kohler, Jennefer N, Levonian, Peter, Members of the Undiagnosed Diseases Network, Bernstein, Jonathan A, Ford, James M, Ahuja, Neera, Witteles, Ronald, Hom, Jason, Wheeler, Matthew, Acosta, Maria T, Adams, David R, Aday, Aaron, Alejandro, Mercedes E, Allard, Patrick, Ashley, Euan A, Azamian, Mahshid S, Bacino, Carlos A, Bademci, Guney, Baker, Eva, Balasubramanyam, Ashok, Baldridge, Dustin, Barbouth, Deborah, Batzli, Gabriel F, Beggs, Alan H, Bellen, Hugo J, Berry, Gerard T, Bican, Anna, Bick, David P, Birch, Camille L, Bivona, Stephanie, Bonnenmann, Carsten, Bonner, Devon, Boone, Braden E, Bostwick, Bret L, Briere, Lauren C, Brokamp, Elly, Brown, Donna M, Brush, Matthew, Burke, Elizabeth A, Burrage, Lindsay C, Butte, Manish J, Carrasquillo, Olveen, Peter Chang, Ta Chen, Chao, Hsiao-Tuan, Clark, Gary D, Coakley, Terra R, Cobban, Laurel A, Cogan, Joy D, Sessions Cole, F, Colley, Heather A, Cooper, Cynthia M, Cope, Heidi, Craigen, William J, D'Souza, Precilla, Dasari, Surendra, Davids, Mariska, Davidson, Jean M, Dayal, Jyoti G, Dell'Angelica, Esteban C, Dhar, Shweta U, Dorrani, Naghmeh, Dorset, Daniel C, Douine, Emilie D, Draper, David D, Dries, Annika M, Duncan, Laura, Eckstein, David J, Emrick, Lisa T, Eng, Christine M, Enns, Gregory M, Esteves, Cecilia, Estwick, Tyra, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L, Fisher, Paul G, Fogel, Brent L, Forghani, Irman, Friedman, Noah D, Gahl, William A, Godfrey, Rena A, Goldman, Alica M, Goldstein, David B, Gourdine, Jean-Philippe F, Grajewski, Alana, Groden, Catherine A, Gropman, Andrea L, Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A, High, Frances, Holm, Ingrid A, Huang, Alden, Huang, Yong, Isasi, Rosario, Jamal, Fariha, Jiang, Yong-hui, Johnston, Jean M, Jones, Angela L, Karaviti, Lefkothea, Kelley, Emily G, Koeller, David M, Kohane, Isaac S, Krakow, Deborah, Krasnewich, Donna M, Korrick, Susan, Koziura, Mary, Krier, Joel B, Kyle, Jennifer E, Lalani, Seema R, Lam, Byron, Lanpher, Brendan C, Lanza, Ian R, Christopher Lau, C, Lazar, Jozef, LeBlanc, Kimberly, Lee, Brendan H, Lee, Hane, Levitt, Roy, Levy, Shawn E, Lewis, Richard A, Lincoln, Sharyn A, Liu, Pengfei, Liu, Xue Zhong, Loo, Sandra K, Loscalzo, Joseph, Maas, Richard L, Macnamara, Ellen F, MacRae, Calum A, Maduro, Valerie V, Majcherska, Marta M, Moretti, Paolo M, Morimoto, Marie, Mulvihill, John J, Murdock, David R, Nath, Avi, Nelson, Stan F, Scott Newberry, J, Newman, John H, Nicholas, Sarah K, Novacic, Donna, Oglesbee, Devin, Orengo, James P, Pak, Stephen, Carl Pallais, J, 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, Renteria, Genecee, Reuter, Chloe M, Rives, Lynette, Robertson, Amy K, Rodan, Lance H, Rosenfeld, Jill A, Rowley, Robb K, Sacco, Ralph, Sampson, Jacinda B, Samson, Susan L, Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, Daryl A, Shakachite, Lisa, Sharma, Prashant, Shashi, Vandana, Shields, Kathleen, Shin, Jimann, Signer, Rebecca, Sillari, Catherine H, Silverman, Edwin K, Sinsheimer, Janet S, Smith, Kevin S, Solnica-Krezel, Lilianna, Spillmann, Rebecca C, Stoler, Joan M, Stong, Nicholas, Sullivan, Jennifer A, Sweetser, David A, Tamburro, Cecelia P, Tan, Queenie K-G, Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J, Toro, Camilo, Tran, Alyssa A, Urv, Tiina K, Vogel, Tiphanie P, Waggott, Daryl M, Wahl, Colleen E, Walley, Nicole M, Walsh, Chris A, Walker, Melissa, Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F, Ward, Patricia A, Waters, Katrina M, Webb-Robertson, Bobbie-Jo M, Wegner, Daniel, Westerfield, Monte, Wheeler, Matthew T, Wise, Anastasia L, Wolfe, Lynne A, Woods, Jeremy D, Worthey, Elizabeth A, Yamamoto, Shinya, Yang, John, Yoon, Amanda J, Yu, Guoyun, Zastrow, Diane B, Zhao, Chunli, Zuchner, Stephan

مصطلحات موضوعية: Letter

وصف الملف: text/html

Relation: http://pmj.bmj.com/cgi/content/short/95/1128/569; http://dx.doi.org/10.1136/postgradmedj-2018-136355

الاتاحة: http://pmj.bmj.com/cgi/content/short/95/1128/569
https://doi.org/10.1136/postgradmedj-2018-136355

المؤلفون: Li, Howard J., Groden, Catherine, Hoenig, Melanie P., Ray, Evan C., Ferreira, Carlos R., Gahl, Willam, Novacic, Danica

المساهمون: Intramural Research Program of the National Human Genome Research Institute

المصدر: BMC Nephrology ; volume 20, issue 1 ; ISSN 1471-2369

الاتاحة: http://dx.doi.org/10.1186/s12882-019-1533-5
http://link.springer.com/content/pdf/10.1186/s12882-019-1533-5.pdf
http://link.springer.com/article/10.1186/s12882-019-1533-5/fulltext.html

المؤلفون: Oláhová, Monika, Yoon, Wan Hee, Thompson, Kyle, Jangam, Sharayu, Fernandez, Liliana, Davidson, Jean M., Kyle, Jennifer E., Grove, Megan E., Fisk, Dianna G., Kohler, Jennefer N., Holmes, Matthew, Dries, Annika M., Huang, Yong, Zhao, Chunli, Contrepois, Kévin, Zappala, Zachary, Frésard, Laure, Waggott, Daryl, Zink, Erika M., Kim, Young-Mo, Heyman, Heino M., Stratton, Kelly G., Webb-Robertson, Bobbie-Jo M., Adams, David R., Alejandro, Mercedes E., Allard, Patrick, Azamian, Mahshid S., Bacino, Carlos A., Balasubramanyam, Ashok, Barseghyan, Hayk, Batzli, Gabriel F., Beggs, Alan H., Behnam, Babak, 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., Chen, Shan, Clark, Gary D., Coakley, Terra R., Cogan, Joy D., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., D’Souza, Precilla, Davids, Mariska, Dayal, Jyoti G., Dell’Angelica, Esteban C., Dhar, Shweta U., Dillon, Ani, Dipple, Katrina M., Donnell-Fink, Laurel A., Dorrani, Naghmeh, Dorset, Daniel C., Douine, Emilie D., Draper, David D., Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Eskin, Ascia, Esteves, Cecilia, Estwick, Tyra, Ferreira, Carlos, Fogel, Brent L., Friedman, Noah D., Gahl, William A., Glanton, Emily, Godfrey, Rena A., Goldstein, David B., 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., Jacob, Howard J., Jain, Mahim, Jiang, Yong-hui, Johnston, Jean M., Jones, Angela L., Kohane, Isaac S., Krasnewich, Donna M., Krieg, Elizabeth L., Krier, Joel B., Lalani, Seema R., Lau, C. Christopher, Lazar, Jozef, Lee, Brendan H., Lee, Hane, Levy, Shawn E., Lewis, Richard A., Lincoln, Sharyn A., Lipson, Allen, 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, Martínez-Agosto, Julian A., Marwaha, Shruti, May, Thomas, McConkie-Rosell, Allyn, McCormack, Colleen E., McCray, Alexa T., 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 G.S., Papp, Jeanette C., Parker, Neil H., Pena, Loren D.M., Phillips III, John A., 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., Schoch, Kelly, Schroeder, Molly C., Scott, Daryl A., Sharma, Prashant, Shashi, Vandana, Silverman, Edwin K., Sinsheimer, Janet S., Smith, Kevin S., Spillmann, Rebecca C., Splinter, Kimberly, Stoler, Joan M., Stong, Nicholas, 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., Wahl, Colleen E., Walley, Nicole M., Walsh, Chris A., Ward, Patricia A., Waters, Katrina M., Westerfield, Monte, Wise, Anastasia L., Wolfe, Lynne A., Worthey, Elizabeth A., Yamamoto, Shinya, Yang, Yaping, Yu, Guoyun, Zastrow, Diane B., Zheng, Allison, Snyder, Michael, Merker, Jason D., Montgomery, Stephen B., Fisher, Paul G., Feichtinger, René G., Mayr, Johannes A., Hall, Julie, Barbosa, Ines A., Simpson, Michael A., Deshpande, Charu, Koeller, David M., Metz, Thomas O., Morris, Andrew A., Schelley, Susan, Cowan, Tina, Friederich, Marisa W., McFarland, Robert, Van Hove, Johan L.K., Enns, Gregory M., Ashley, Euan A., Wangler, Michael F., Taylor, Robert W., Bellen, Hugo J., Bernstein, Jonathan A., Wheeler, Matthew T.

المصدر: Oláhová , M , Yoon , W H , Thompson , K , Jangam , S , Fernandez , L , Davidson , J M , Kyle , J E , Grove , M E , Fisk , D G , Kohler , J N , Holmes , M , Dries , A M , Huang , Y , Zhao , C , Contrepois , K , Zappala , Z , Frésard , L , Waggott , D , Zink , E M , Kim , Y-M , Heyman , H M , Stratton , K G , Webb-Robertson ....

مصطلحات موضوعية: mitochondrial disease, complex V, ATP synthase, exome sequencing, oxidative phosphorylation, lactic acidosis, hyperammonemia, 3-methylglutaric aciduria, model organism, fibroblast

Relation: https://kclpure.kcl.ac.uk/portal/en/publications/09c5b802-d567-461f-94d5-b13e8de03804

الاتاحة: https://kclpure.kcl.ac.uk/portal/en/publications/09c5b802-d567-461f-94d5-b13e8de03804
https://doi.org/10.1016/j.ajhg.2018.01.020

المؤلفون: Parenti, Ilaria, Lehalle, Daphné, Nava, Caroline, Torti, Erin, Leitão, Elsa, Person, Richard, Mizuguchi, Takeshi, Matsumoto, Naomichi, Kato, Mitsuhiro, Nakamura, Kazuyuki, de Man, Stella A., Cope, Heidi, Shashi, Vandana, Friedman, Jennifer, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Muffels, Irena, van Hasselt, Peter M., Petit, Florence, Smol, Thomas, Le Guyader, Gwenaël, Bilan, Frédéric, Sorlin, Arthur, Vitobello, Antonio, Philippe, Christophe, van de Laar, Ingrid M. B. H., van Slegtenhorst, Marjon A., Campeau, Philippe M., Au, Ping Yee Billie, Nakashima, Mitsuko, Saitsu, Hirotomo, Yamamoto, Tatsuya, Nomura, Yumiko, Louie, Raymond J., Lyons, Michael J., Dobson, Amy, Plomp, Astrid S., Motazacker, M. Mahdi, Kaiser, Frank J., Timberlake, Andrew T., Fuchs, Sabine A., Depienne, Christel, Mignot, Cyril, Acosta, Maria T., Adam, Margaret, Adams, David R., Agrawal, Pankaj B., Alejandro, Mercedes E., Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Azamian, Mahshid S., Bacino, Carlos A., Bademci, Guney, Baker, Eva, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bennet, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonnenmann, Carsten, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C., Brokamp, Elly, Brown, Gabrielle, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Chang, Ta Chen Peter, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Colley, Heather A., Cooper, Cynthia M., Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D’Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Dayal, Jyoti G., Deardorff, Matthew, Dell’Angelica, Esteban C., Dhar, Shweta U., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Draper, David D., Duncan, Laura, Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Esteves, Cecilia, Falk, Marni, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L., Findley, Laurie C., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Fresard, Laure, Gahl, William A., Glass, Ian, Gochuico, Bernadette, Godfrey, Rena A., Golden-Grant, Katie, Goldman, Alica M., Goldrich, Madison P., Goldstein, David B., Grajewski, Alana, Groden, Catherine A., Gutierrez, Irma, Hahn, Sihoun, Hamid, Rizwan, Hanchard, Neil A., Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Huang, Yong, Huryn, Laryssa, Isasi, Rosario, Jamal, Fariha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Karaviti, Lefkothea, Kennedy, Jennifer, Kiley, Dana, Kohane, Isaac S., Kohler, Jennefer N., Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Korrick, Susan, Koziura, Mary, Krier, Joel B., Lalani, Seema R., Lam, Byron, Lam, Christina, LaMoure, Grace L., Lanpher, Brendan C., Lanza, Ian R., Latham, Lea, LeBlanc, Kimberly, Lee, Brendan H., Lee, Hane, Levitt, Roy, Lewis, Richard A., Lincoln, Sharyn A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., MacDowall, John, Macnamara, Ellen F., Mac-Rae, Calum A., Maduro, Valerie V., Majcherska, Marta M., Mak, Bryan C., Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Maravilla, Kenneth, Markello, Thomas C., Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McConkie-Rosell, Allyn, McCormack, Colleen E., McCray, Alexa T., McGee, Elisabeth, Mefford, Heather, Merritt, J. Lawrence, Might, Matthew, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo M., Mosbrook-Davis, Deborah, Mulvihill, John J., Murdock, David R., Nagy, Anna, Nakano-Okuno, Mariko, Nath, Avi, Nelson, Stan F., Newman, John H., Nicholas, Sarah K., Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Palmer, Christina GS., Papp, Jeanette C., Parker, Neil H., Phillips, John A., Posey, Jennifer E., Potocki, Lorraine, Power, Bradley, Pusey, Barbara N., Quinlan, Aaron, Raskind, Wendy, Raja, Archana N., Rao, Deepak A., Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rosenwasser, Natalie, Rossignol, Francis, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B., Samson, Susan L., Saporta, Mario, Scott, C. Ron, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, Daryl A., Shin, Jimann, Signer, Rebecca, Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Edward C., Smith, Kevin S., Solem, Emily, Solnica-Krezel, Lilianna, Solomon, Ben, Spillmann, Rebecca C., Stoler, Joan M., Sullivan, Jennifer A., Sullivan, Kathleen, Sun, Angela, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tan, Amelia L. M., Tan, Queenie K.-G., Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Thurm, Audrey, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Tucker, Brianna M., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Wallace, Stephanie, Walley, Nicole M., Walsh, Chris A., Walker, Melissa, Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Wener, Mark, Wenger, Tara, Perry, Katherine Wesseling, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Woods, Jeremy D., Yamamoto, Shinya, Yang, John, Yousef, Muhammad, Zastrow, Diane B., Zein, Wadih, Zhao, Chunli, Zuchner, Stephan

المساهمون: Clinical Genetics, Human Genetics, ACS - Pulmonary hypertension & thrombosis, ANS - Complex Trait Genetics

المصدر: Human Genetics, 140(7), 1109-1120. Springer-Verlag
Human genetics, 140(7), 1109-1120. Springer Verlag
Human Genetics

مصطلحات موضوعية: Male, Adolescent, Mutation, Missense, Medizin, Nerve Tissue Proteins, Biology, Frameshift mutation, Chromodomain, Cohort Studies, Young Adult, Epilepsy, Neurodevelopmental disorder, Catalytic Domain, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Missense mutation, Child, Genetics (clinical), Exome sequencing, Original Investigation, Genes, Dominant, DNA Helicases, medicine.disease, Pedigree, Neurodevelopmental Disorders, Child, Preschool, Speech delay, Female, medicine.symptom

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::321da32d9079b47b76eed035219d68b2
https://doi.org/10.1007/s00439-021-02283-2