المؤلفون: Chopra, Maya, Savatt, Juliann, Bingaman, Taylor, Good, Molly, Morgan, Alexis, Cooney, Caitlin, Rossel, Allison, VanHoute, Bryanna, Cordova, Ineke, Mahida, Sonal, Lanzotti, Virginia, Baldridge, Dustin, Gurnett, Christina, Piven, Joseph, Hazlett, Heather, Pomeroy, Scott, Sahin, Mustafa, Payne, Philip, Riggs, Erin, Constantino, John

المصدر: Genetics in Medicine. 26(3)

مصطلحات موضوعية: Autism, Gene curation, Intellectual disability, Neurodevelopmental disorders, Variant of uncertain significance, Humans, Genetic Variation, Databases, Genetic, Genetic Testing, Phenotype, Brain

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8k68d1b9

المؤلفون: Bainbridge, Matthew N, Mazumder, Aloran, Ogasawara, Daisuke, Jamra, Rami Abou, Bernard, Geneviève, Bertini, Enrico, Burglen, Lydie, Cope, Heidi, Crawford, Ali, Derksen, Alexa, Dure, Leon, Gantz, Emily, Koch-Hogrebe, Margarete, Hurst, Anna CE, Mahida, Sonal, Marshall, Paige, Micalizzi, Alessia, Novelli, Antonio, Peng, Hongfan, Medicine, Rady Children's Institute for Genomic, Rodriguez, Diana, Robbins, Shira L, Rutledge, S Lane, Scalise, Roberta, Schließke, Sophia, Shashi, Vandana, Srivastava, Siddharth, Thiffault, Isabella, Topol, Sarah, Acosta, Maria T, Adam, Margaret, Adams, David R, Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A, Azamian, Mahshid S, Bacino, Carlos A, Bademci, Guney, 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, 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, Cassini, Thomas, 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, Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L, Douine, Emilie D, Duncan, Laura, Earl, Dawn

المصدر: Brain. 145(10)

مصطلحات موضوعية: Biotechnology, Brain Disorders, Genetics, Neurosciences, Clinical Research, Rare Diseases, Eye Disease and Disorders of Vision, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Neurological, Humans, Child, Endocannabinoids, Phenotype, Nervous System Diseases, Heterozygote, Syndrome, Mutant Proteins, endocannabinoid, episodic ataxia, paroxysmal tonic upgaze, nystagmus, developmental delay, Rady Children's Institute for Genomic Medicine, Undiagnosed Disease Network, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1tp7967m

المؤلفون: Shankar, Suma P, Grimsrud, Kristin, Lanoue, Louise, Egense, Alena, Willis, Brandon, Hörberg, Johanna, AlAbdi, Mayer, Klaus, Ütkür, Koray, Monaghan, Kristin G, Krier, Joel, Stoler, Joan, Alnemer, Maha, Shankar, Prabhu R, Schaffrath, Raffael, Alkuraya, Fowzan S, Brinkmann, Ulrich, Eriksson, Leif A, Lloyd, Kent, Rauen, Katherine A, Network, Undiagnosed Diseases, Acosta, Maria T, Adam, Margaret, Adams, David R, Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A, Azamian, Mahshid S, Bacino, Carlos A, Bademci, Guney, 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, 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, Cassini, Thomas, 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, Cope, Heidi, 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, Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L, Douine, Emilie D, Duncan, Laura, Earl, Dawn, Eckstein, David J, Emrick, Lisa T, Eng, Christine M, Esteves, Cecilia, Falk, Marni, Fernandez, Liliana, Fieg, Elizabeth L, Fisher, Paul G

المصدر: Genetics in Medicine. 24(7)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Pediatric, Human Genome, 2.1 Biological and endogenous factors, Adenosine Diphosphate, Animals, Histidine, Humans, Methyltransferases, Mice, Mice, Inbred C57BL, Neurodevelopmental Disorders, Saccharomyces cerevisiae, Saccharomyces cerevisiae Proteins, Syndrome, Nonverbal neurodevelopment delays, Novel gene discovery, Precision animal modeling, Precision genomics, Translational genetics, Undiagnosed Diseases Network, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9kg2s7vk
https://escholarship.org/content/qt9kg2s7vk/qt9kg2s7vk.pdf

المؤلفون: McConkie‐Rosell, Allyn, Schoch, Kelly, Sullivan, Jennifer, Spillmann, Rebecca C, Cope, Heidi, Tan, Queenie K‐G, Palmer, Christina GS, Hooper, Stephen R, Shashi, Vandana, 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, Sessions Cole, F, Colley, Heather A, Cooper, Cynthia M, Craigen, William J, Crouse, Andrew B, Cunningham, Michael, D'Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davids, Mariska, Dayal, Jyoti G, Deardorff, Matthew, Dell'Angelica, Esteban C, Dhar, Shweta U, Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Douine, Emilie D, Draper, David D, Duncan, Laura, Earl, Dawn, Eckstein, David J, Emrick, Lisa T, Eng, Christine M, Esteves, Cecilia, Estwick, Tyra, 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, Godfrey, Rena A

المصدر: Journal of Genetic Counseling. 31(1)

مصطلحات موضوعية: Pediatric, Biotechnology, Human Genome, Clinical Research, Genetics, Good Health and Well Being, Child, Delivery of Health Care, Family, Genomics, Humans, Parents, Exome Sequencing, exome and genomic sequencing, undiagnosed disorders, healthcare empowerment, genetic counseling, parental perspectives, rare disorders, Undiagnosed Disease Network, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/76z1t0c4

المؤلفون: Rockwell, Nathan, Yang, Wei, Warrington, Nicole, Staller, Max, Griffith, Malachi, Griffith, Obi, Gurnett, Christina, Cohen, Barak, Baldridge, Dustin, Rubin, Joshua

المصدر: Cancer Research Communications. 1(3)

مصطلحات موضوعية: gain-of-function, glioblastoma, p53, sex differences, transcription, Animals, Mice, Female, Male, Tumor Suppressor Protein p53, Gain of Function Mutation, Neoplasm Recurrence, Local, Mutation, Glioblastoma, DNA

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9w45x5fn
https://escholarship.org/content/qt9w45x5fn/qt9w45x5fn.pdf

المؤلفون: Kobren, Shilpa Nadimpalli, Baldridge, Dustin, Velinder, Matt, Krier, Joel B, LeBlanc, Kimberly, Esteves, Cecilia, Pusey, Barbara N, Züchner, Stephan, Blue, Elizabeth, Lee, Hane, Huang, Alden, Bastarache, Lisa, Bican, Anna, Cogan, Joy, Marwaha, Shruti, Alkelai, Anna, Murdock, David R, Liu, Pengfei, Wegner, Daniel J, Paul, Alexander J, Undiagnosed Diseases Network, Sunyaev, Shamil R, Kohane, Isaac S

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 23(6)

مصطلحات موضوعية: Undiagnosed Diseases Network, Humans, Computational Biology, Genomics, Genome, Software, Genetic Testing, Workflow, Undiagnosed Diseases, Genetics, Human Genome, Genetics & Heredity, Clinical Sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2kt3f4xr

المؤلفون: Chopra, Maya, Savatt, Juliann, Bingaman, Taylor, Good, Molly, Morgan, Alexis, Cooney, Caitlin, Rossel, Allison, VanHoute, Bryanna, Cordova, Ineke, Mahida, Sonal, Lanzotti, Virginia, Baldridge, Dustin, Gurnett, Christina, Piven, Joseph, Hazlett, Heather, Pomeroy, Scott, Sahin, Mustafa, Payne, Philip, Riggs, Erin, Constantino, John

المصدر: Genetics in Medicine, vol 26, iss 3

مصطلحات موضوعية: Autism, Gene curation, Intellectual disability, Neurodevelopmental disorders, Variant of uncertain significance, Humans, Genetic Variation, Databases, Genetic, Genetic Testing, Phenotype, Brain

وصف الملف: application/pdf

Relation: qt8k68d1b9; https://escholarship.org/uc/item/8k68d1b9

الاتاحة: https://escholarship.org/uc/item/8k68d1b9

المؤلفون: Rael, Victoria E., Yano, Julian A., Huizar, John P., Slayden, Leianna C., Weiss, Madeleine A., Turcotte, Elizabeth A., Terry, Jacob M., Zuo, Wenqi, Thiffault, Isabelle, Pastinen, Tomi, Farrow, Emily G., Jenkins, Janda L., Becker, Mara L., Wong, Stephen C., Stevens, Anne M., Otten, Catherine, Allenspach, Eric J., Bonner, Devon E., Bernstein, Jonathan A., Wheeler, Matthew T., Saxton, Robert A., Acosta, Maria T., Adams, David R., Alvarez, Raquel L., Alvey, Justin, Allworth, Aimee, Andrews, Ashley, Ashley, Euan A., Afzali, Ben, Bacino, Carlos A., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bellen, Hugo J., Bennett, Jimmy, Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon

المساهمون: Lupus Research Institute, National Institutes of Health, Howard Hughes Medical Institute, National Science Foundation, Children’s Mercy Research Institute, Office of Strategic Coordination, Office of the NIH, Chan-Zuckerburg Biohub Physician Scientist Fellowship Program, Centers for Disease Control and Prevention

المصدر: Journal of Experimental Medicine ; volume 221, issue 8 ; ISSN 0022-1007 1540-9538

الاتاحة: http://dx.doi.org/10.1084/jem.20232005
https://rupress.org/jem/article-pdf/doi/10.1084/jem.20232005/1928690/jem_20232005.pdf

المؤلفون: Pucel, Jenna, Briere, Lauren C., Reuter, Chloe, Gochyyev, Perman, Acosta, Maria T., Adams, David R., Alvarez, Raquel L., Alvey, Justin, Allworth, Aimee, Andrews, Ashley, Ashley, Euan A., Bacino, Carlos A., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bellen, Hugo J., Bennett, Jimmy, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Brown, Gabrielle, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Cassini, Thomas, Peter Chang, Ta Chen, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Chinn, Ivan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A.

المساهمون: National Institutes of Health

المصدر: Genetics in Medicine ; volume 26, issue 6, page 101115 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1016/j.gim.2024.101115
https://api.elsevier.com/content/article/PII:S1098360024000480?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360024000480?httpAccept=text/plain

المؤلفون: Scala, Marcello, Tomati, Valeria, Ferla, Matteo, Lena, Mariateresa, Cohen, Julie S., Fatemi, Ali, Brokamp, Elly, Bican, Anna, Phillips, John A., Koziura, Mary E., Nicouleau, Michael, Rio, Marlene, Siquier, Karine, Boddaert, Nathalie, Musante, Ilaria, Tamburro, Serena, Baldassari, Simona, Iacomino, Michele, Scudieri, Paolo, Rosenfeld, Jill A., Bellus, Gary, Reed, Sara, Al Saif, Hind, Russo, Rossana Sanchez, Walsh, Matthew B., Cantagrel, Vincent, Crunk, Amy, Gustincich, Stefano, Ruggiero, Sarah M., Fitzgerald, Mark P., Helbig, Ingo, Striano, Pasquale, Severino, Mariasavina, Salpietro, Vincenzo, Pedemonte, Nicoletta, Zara, Federico, Acosta, Maria T., Adams, David R., Alvarez, Raquel L., Alvey, Justin, Allworth, Aimee, Andrews, Ashley, Ashley, Euan A., Afzali, Ben, Bacino, Carlos A., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael

المساهمون: Fondazione Compagnia di San Paolo, NIH Common Fund, Rosetrees Trust, Ministero della Salute

المصدر: The American Journal of Human Genetics ; volume 111, issue 3, page 529-543 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2024.02.001
https://api.elsevier.com/content/article/PII:S0002929724000338?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929724000338?httpAccept=text/plain

المؤلفون: Undiagnosed Diseases Network, Huang, Huiyan, Pan, Jiehong, Spielberg, David R., Hanchard, Neil A., Scott, Daryl A., Burrage, Lindsay C., Dai, Hongzheng, Murdock, David, Rosenfeld, Jill A., Mohammad, Ariz, Huang, Tao, Lindsey, Anika G., Kim, Hyori, Chen, Jian, Ramu, Avinash, Morrison, Stephanie A., Dawson, Zachary D., Hu, Alex Z., Tycksen, Eric, Silverman, Gary A., Baldridge, Dustin, Wambach, Jennifer A., Pak, Stephen C., Brody, Steven L., Schedl, Tim

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2022 Feb 01. 119(6), 1-10.

URL الوصول: https://www.jstor.org/stable/27118528

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: Borja, Nicholas A., Tinker, Rory J., Bivona, Stephanie A., Smith, Carson A., Locker, Theodore Krijnse, Fernandes, Samuela, Acosta, Maria T., Adams, David R., Afzali, Ben, Al‐Beshri, Ali, Allworth, Aimee, Alvarez, Raquel L., Alvey, Justin, Andrews, Ashley, Ashley, Euan A., Bacino, Carlos A., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim

المصدر: American Journal of Medical Genetics. Part A; Feb2025, Vol. 197 Issue 2, p1-7, 7p

المؤلفون: Fitzsimmons, Lane, Acosta, Maria T., Adams, David R., Afzali, Ben, Al-Beshri, Ali, Allenspach, Eric, Allworth, Aimee, Alvarez, Raquel L., Alvey, Justin, Andrews, Ashley, Ashley, Euan A., Bacino, Carlos A., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Baldwin, Erin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar

المصدر: BioData Mining; 1/17/2025, Vol. 18 Issue 1, p1-16, 16p

مصطلحات موضوعية: PATIENTS' attitudes, RARE diseases, GENETIC variation, PHENOTYPES, SEIZURES (Medicine)

المؤلفون: Koop, Klaas, Yuan, Weimin, Tessadori, Federico, Rodriguez-Polanco, Wilmer R, Grubbs, Jeremy, Zhang, Bo, Osmond, Matt, Graham, Gail, Sawyer, Sarah, Conboy, Erin, Vetrini, Francesco, Treat, Kayla, Płoski, Rafal, Pienkowski, Victor Murcia, Kłosowska, Anna, Fieg, Elizabeth, Krier, Joel, Mallebranche, Coralie, Alban, Ziegler, Aldinger, Kimberly A, Ritter, Deborah, Macnamara, Ellen, Sullivan, Bonnie, Herriges, John, Alaimo, Joseph T, Helbig, Catherine, Ellis, Colin A, Eyk, Clare, Gecz, Jozef, Farrugia, Daniel, Osei-Owusu, Ikeoluwa, Adès, Lesley, Boogaard, Marie-Jose, Fuchs, Sabine, Bakker, Jeroen, Duran, Karen, Dawson, Zachary D, Lindsey, Anika, Huang, Huiyan, Baldridge, Dustin, Silverman, Gary A, Grant, Barth D, Raizen, David, Network, Undiagnosed Diseases, Haaften, Gijs, Pak, Stephen C, Rehmann, Holger, Schedl, Tim, van Hasselt, Peter

المساهمون: Metabole ziekten patientenzorg, Cancer, Genetica Groep Van Haaften, Child Health, Infection & Immunity

مصطلحات موضوعية: Genetics(clinical), Genetics, Molecular Biology, Journal Article

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/449715

الاتاحة: https://dspace.library.uu.nl/handle/1874/449715

المؤلفون: Ebstein, Frédéric, Küry, Sébastien, Most, Victoria, Rosenfelt, Cory, Scott-Boyer, Marie Pier, van Woerden, Geeske M., Besnard, Thomas, Papendorf, Jonas Johannes, Studencka-Turski, Maja, Wang, Tianyun, Hsieh, Tzung Chien, Golnik, Richard, Baldridge, Dustin, Forster, Cara, de Konink, Charlotte, Teurlings, Selina M.W., Vignard, Virginie, van Jaarsveld, Richard H., Ades, Lesley, Cogné, Benjamin, Mignot, Cyril, Deb, Wallid, Jongmans, Marjolijn C.J., Cole, F. Sessions, van den Boogaard, Marie José H., Wambach, Jennifer A., Wegner, Daniel J., Yang, Sandra, Hannig, Vickie, Brault, Jennifer Ann, Zadeh, Neda, Bennetts, Bruce, Keren, Boris, Gélineau, Anne Claire, Powis, Zöe, Towne, Meghan, Bachman, Kristine, Seeley, Andrea, Beck, Anita E., Morrison, Jennifer, Westman, Rachel, Averill, Kelly, Brunet, Theresa, Haasters, Judith, Carter, Melissa T., Osmond, Matthew, Wheeler, Patricia G., Forzano, Francesca, Mohammed, Shehla, Trakadis, Yannis, Accogli, Andrea, Harrison, Rachel, Guo, Yiran, Hakonarson, Hakon, Rondeau, Sophie, Baujat, Geneviève, Barcia, Giulia, Feichtinger, René Günther, Mayr, Johannes Adalbert, Preisel, Martin, Laumonnier, Frédéric, Kallinich, Tilmann, Knaus, Alexej, Isidor, Bertrand, Krawitz, Peter, Völker, Uwe, Hammer, Elke, Droit, Arnaud, Eichler, Evan E., Elgersma, Ype, Hildebrand, Peter W., Bolduc, François, Krüger, Elke, Bézieau, Stéphane

المصدر: Ebstein , F , Küry , S , Most , V , Rosenfelt , C , Scott-Boyer , M P , van Woerden , G M , Besnard , T , Papendorf , J J , Studencka-Turski , M , Wang , T , Hsieh , T C , Golnik , R , Baldridge , D , Forster , C , de Konink , C , Teurlings , S M W , Vignard , V , van Jaarsveld , R H , Ades , L , Cogné , B , Mignot , C , Deb , W , Jongmans ....

الاتاحة: https://pure.eur.nl/en/publications/973c347c-0f5a-4991-9d1b-ee61f400caeb
https://doi.org/10.1126/scitranslmed.abo3189
http://www.scopus.com/inward/record.url?scp=85160799341&partnerID=8YFLogxK
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10506367/pdf/nihms-1919500.pdf

المؤلفون: Sheppard, Sarah E., Bryant, Laura, Wickramasekara, Rochelle N., Vaccaro, Courtney, Robertson, Brynn, Hallgren, Jodi, Hulen, Jason, Watson, Cynthia J., Faundes, Victor, Duffourd, Yannis, Lee, Pearl, Celeste Simon, M., de la Cruz, Xavier, Padilla, Natália, Flores-Mendez, Marco, Akizu, Naiara, Smiler, Jacqueline, Da Silva, Renata Pellegrino, Li, Dong, March, Michael, Diaz-Rosado, Abdias, de Barcelos, Isabella Peixoto, Choa, Zhao Xiang, Lim, Chin Yan, Dubourg, Christèle, Journel, Hubert, Demurger, Florence, Mulhern, Maureen, Akman, Cigdem, Lippa, Natalie, Andrews, Marisa, Baldridge, Dustin, Constantino, John, van Haeringen, Arie, Snoeck-Streef, Irina, Chow, Penny, Hing, Anne, Graham, John M., Au, Margaret, Faivre, Laurence, Shen, Wei, Mao, Rong, Palumbos, Janice, Viskochil, David, Gahl, William, Tifft, Cynthia, Macnamara, Ellen, Hauser, Natalie, Miller, Rebecca, Maffeo, Jessica, Afenjar, Alexandra, Doummar, Diane, Keren, Boris, Arn, Pamela, Macklin-Mantia, Sarah, Meerschaut, Ilse, Callewaert, Bert, Reis, André, Zweier, Christiane, Brewer, Carole, Saggar, Anand, Smeland, Marie F., Kumar, Ajith, Elmslie, Frances, Deshpande, Charu, Nizon, Mathilde, Cogne, Benjamin, van Ierland, Yvette, Wilke, Martina, van Slegtenhorst, Marjon, Koudijs, Suzanne, Chen, Jin Yun, Dredge, David, Pier, Danielle, Wortmann, Saskia, Kamsteeg, Erik Jan, Koch, Johannes, Haynes, Devon, Pollack, Lynda, Titheradge, Hannah, Ranguin, Kara, Denommé-Pichon, Anne Sophie, Weber, Sacha, de la Fuente, Rubén Pérez, del Pozo, Jaime Sánchez, Rosales, Jose Miguel Lezana, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Mei, Davide, Mari, Francesco, Guerrini, Renzo, Lespinasse, James, Mau-Them, Frédéric Tran, Philippe, Christophe, Dauriat, Benjamin, Raymond, Laure, Moutton, Sébastien, Cueto-González, Anna M., Tan, Tiong Yang, Mignot, Cyril, Grotto, Sarah, Renaldo, Florence, Drivas, Theodore G., Hennessy, Laura, Raper, Anna, Parenti, Ilaria, Kaiser, Frank J., Kuechler, Alma, Busk, Øyvind L., Islam, Lily, Siedlik, Jacob A., Henderson, Lindsay B., Juusola, Jane, Person, Richard, Schnur, Rhonda E., Vitobello, Antonio, Banka, Siddharth, Bhoj, Elizabeth J., Stessman, Holly A.F.

المصدر: Sheppard , S E , Bryant , L , Wickramasekara , R N , Vaccaro , C , Robertson , B , Hallgren , J , Hulen , J , Watson , C J , Faundes , V , Duffourd , Y , Lee , P , Celeste Simon , M , de la Cruz , X , Padilla , N , Flores-Mendez , M , Akizu , N , Smiler , J , Da Silva , R P , Li , D , March , M , Diaz-Rosado , A , de Barcelos , I P , Choa ....

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/6d222e2f-b72e-4d41-98ba-7a6d43099fa4
https://doi.org/10.1126/sciadv.ade1463
https://pure.eur.nl/ws/files/87092930/Mechanism_of_KMT5B_haploinsufficiency_in_neurodevelopment_in_humans_and_mice.pdf
http://www.scopus.com/inward/record.url?scp=85150009253&partnerID=8YFLogxK

المؤلفون: Sheppard, Sarah E, Bryant, Laura, Wickramasekara, Rochelle N, Vaccaro, Courtney, Robertson, Brynn, Hallgren, Jodi, Hulen, Jason, Watson, Cynthia J, Faundes, Victor, Duffourd, Yannis, Lee, Pearl, Simon, M Celeste, de la Cruz, Xavier, Padilla, Natália, Flores-Mendez, Marco, Akizu, Naiara, Smiler, Jacqueline, Pellegrino Da Silva, Renata, Li, Dong, March, Michael, Diaz-Rosado, Abdias, Peixoto de Barcelos, Isabella, Choa, Zhao Xiang, Lim, Chin Yan, Dubourg, Christèle, Journel, Hubert, Demurger, Florence, Mulhern, Maureen, Akman, Cigdem, Lippa, Natalie, Andrews, Marisa, Baldridge, Dustin, Constantino, John, van Haeringen, Arie, Snoeck-Streef, Irina, Chow, Penny, Hing, Anne, Graham, John M, Au, Margaret, Faivre, Laurence, Shen, Wei, Mao, Rong, Palumbos, Janice, Viskochil, David, Gahl, William, Tifft, Cynthia, Macnamara, Ellen, Hauser, Natalie, Miller, Rebecca, Maffeo, Jessica, Afenjar, Alexandra, Doummar, Diane, Keren, Boris, Arn, Pamela, Macklin-Mantia, Sarah, Meerschaut, Ilse, Callewaert, Bert, Reis, André, Zweier, Christiane, Brewer, Carole, Saggar, Anand, Smeland, Marie F, Kumar, Ajith, Elmslie, Frances, Deshpande, Charu, Nizon, Mathilde, Cogne, Benjamin, van Ierland, Yvette, Wilke, Martina, van Slegtenhorst, Marjon, Koudijs, Suzanne, Chen, Jin Yun, Dredge, David, Pier, Danielle, Wortmann, Saskia, Kamsteeg, Erik-Jan, Koch, Johannes, Haynes, Devon, Pollack, Lynda, Titheradge, Hannah, Ranguin, Kara, Denommé-Pichon, Anne-Sophie, Weber, Sacha, Pérez de la Fuente, Rubén, Sánchez Del Pozo, Jaime, Lezana Rosales, Jose Miguel, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Mei, Davide, Mari, Francesco, Guerrini, Renzo, Lespinasse, James, Tran Mau-Them, Frédéric, Philippe, Christophe, Dauriat, Benjamin, Raymond, Laure, Moutton, Sébastien, Cueto-González, Anna M, Tan, Tiong Yang, Mignot, Cyril, Grotto, Sarah, Renaldo, Florence, Drivas, Theodore G, Hennessy, Laura, Raper, Anna, Parenti, Ilaria, Kaiser, Frank J, Kuechler, Alma, Busk, Øyvind L, Islam, Lily, Siedlik, Jacob A, Henderson, Lindsay B, Juusola, Jane, Person, Richard, Schnur, Rhonda E, Vitobello, Antonio, Banka, Siddharth, Bhoj, Elizabeth J, Stessman, Holly A F

المصدر: Sheppard, Sarah E; Bryant, Laura; Wickramasekara, Rochelle N; Vaccaro, Courtney; Robertson, Brynn; Hallgren, Jodi; Hulen, Jason; Watson, Cynthia J; Faundes, Victor; Duffourd, Yannis; Lee, Pearl; Simon, M Celeste; de la Cruz, Xavier; Padilla, Natália; Flores-Mendez, Marco; Akizu, Naiara; Smiler, Jacqueline; Pellegrino Da Silva, Renata; Li, Dong; March, Michael; . (2023). Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science Advances, 9(10), eade1463. American Association for the Advancement of Science 10.1126/sciadv.ade1463

مصطلحات موضوعية: 610 Medicine & health

وصف الملف: application/pdf

Relation: https://boris.unibe.ch/179893/

الاتاحة: https://boris.unibe.ch/179893/1/sciadv.ade1463.pdf
https://boris.unibe.ch/179893/

المؤلفون: Mohajeri, Arezoo, Vaseghi-Shanjani, Maryam, Rosenfeld, Jill A, Yang, Gui Xiang, Lu, Henry, Sharma, Mehul, Lin, Susan, Salman, Areesha, Waqas, Meriam, Sababi Azamian, Mahshid, Worley, Kim C, Del Bel, Kate L, Kozak, Frederick K, Rahmanian, Ronak, Biggs, Catherine M, Hildebrand, Kyla J, Lalani, Seema R, Nicholas, Sarah K, Scott, Daryl A, Mostafavi, Sara, van Karnebeek, Clara, Henkelman, Erika, Halparin, Jessica, Yang, Connie L, Armstrong, Linlea, Undiagnosed Diseases Network, Care4Rare Canada Consortium, Turvey, Stuart E, Lehman, Anna, Acosta, Maria T, Adam, Margaret, Adams, David R, Alvarez, Raquel L, Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A, Bacino, Carlos A, Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H, Behrens, Edward, Bejerano, Gill, Bellen, Hugo J, Bennett, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A, Berry, Gerard T, Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, 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, Cassini, Thomas, Chang, TaChen Peter, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Clark, Gary D, Coakley, Terra R, Cobban, Laurel A, Cogan, Joy D, Coggins, Matthew, Sessions Cole, F, Colley, Heather A, Cooper, Cynthia M, Cope, Heidi, Corona, Rosario, Craigen, William J, Crouse, Andrew B, Cunningham, Michael, D’Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Dayal, Jyoti G, Dell'Angelica, Esteban C, Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L, Douine, Emilie D, Duncan, Laura, Earl, Dawn, Eckstein, David J, Emrick, Lisa T, Eng, Christine M, Falk, Marni, Fieg, Elizabeth L, Fisher, Paul G, Fogel, Brent L, Forghani, Irman, Gahl, William A, Glass, Ian, Gochuico, Bernadette, Goddard, Page C, Godfrey, Rena A, Golden-Grant, Katie, Grajewski, Alana, Don Hadley, Sihoun Hahn, Halley, Meghan C., Hamid, Rizwan, Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M, Holm, Ingrid A, Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Hutchison, Sarah, Introne, Wendy, Isasi, Rosario, Izumi, Kosuke, Jamal, Fariha, Jarvik, Gail P, Jarvik, Jeffrey, Jayadev, Suman, Jean-Marie, Orpa, Jobanputra, Vaidehi, Karaviti, Lefkothea, Kennedy, Jennifer, Ketkar, Shamika, Kiley, Dana, Kilich, Gonench, Kobren, Shilpa N, Kohane, Isaac S, Kohler, Jennefer N, Korrick, Susan, Kozuira, Mary, Krakow, Deborah, Krasnewich, Donna M, Kravets, Elijah, Lam, Byron, Lam, Christina, Lanpher, Brendan C, Lanza, Ian R, LeBlanc, Kimberly, Lee, Brendan H, Levitt, Roy, Lewis, Richard A, Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K, Loscalzo, Joseph, Maas, Richard L, Macnamara, Ellen F, MacRae, Calum A, Maduro, Valerie V, Mahoney, Rachel, Malicdan, MayChristine V, Mamounas, Laura A, Manolio, Teri A, Mao, Rong, Maravilla, Kenneth, Marom, Ronit, Marth, Gabor, Martin, Beth A, Martin, Martin G, Martínez-Agosto, Julian A, Marwaha, Shruti, McCauley, Jacob, McConkie-Rosell, Allyn, McCray, Alexa T, McGee, Elisabeth, Mefford, Heather, Lawrence Merritt, J, Might, Matthew, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo, Mulvihill, John, Nakano-Okuno, Mariko, Nelson, Stanley F, Newman, John H, Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P, Pace, Laura, Pak, Stephen, Carl Pallais, J, Palmer, Christina GS, Papp, Jeanette C, Parker, Neil H, PhillipsIII, John A, Posey, Jennifer E, Potocki, Lorraine, PuseySwerdzewski, Barbara N, Quinlan, Aaron, Rao, Deepak A, Raper, Anna, Raskind, Wendy, Renteria, Genecee, Reuter, Chloe M, Rives, Lynette, Robertson, Amy K, Rodan, Lance H, Rosenwasser, Natalie, Rossignol, Francis, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B, Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Ron Scott, C, Shashi, Vandana, Shin, Jimann, 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, Kathleen, Sullivan, Jennifer A, Sun, Angela, Sutton, Shirley, Sweetser, David A, Sybert, Virginia, Tabor, Holly K, Tan, Queenie K-G, Tan, Amelia LM, Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J, Toro, Camilo, Tran, Alyssa A, Ungar, Rachel A, Urv, Tiina K, Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P, Wahl, Colleen E, Walker, Melissa, Wallace, Stephanie, Walley, Nicole M, Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F, Ward, Patricia A, Wegner, Daniel, Hubshman, Monika Weisz, Wener, Mark, Wenger, Tara, Westerfield, Monte, Wheeler, Matthew T, Whitlock, Jordan, Wolfe, Lynne A, Worley, Kim, Xiao, Changrui, Yamamoto, Shinya, Yang, John, Zhang, Zhe, Zuchner, Stephan

مصطلحات موضوعية: Developmental defects

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/60/11/1092; http://dx.doi.org/10.1136/jmg-2022-109127

الاتاحة: http://jmg.bmj.com/cgi/content/short/60/11/1092
https://doi.org/10.1136/jmg-2022-109127