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: Perrin, Aurélien, Métay, Corinne, Savarese, Marco, Ben Yaou, Rabah, Demidov, German, Nelson, Isabelle, Solé, Guilhem, Péréon, Yann, Bertini, Enrico Silvio, Fattori, Fabiana, D'Amico, Adele, Ricci, Federica, Ginsberg, Mira, Seferian, Andreea, Boespflug-Tanguy, Odile, Servais, Laurent, Chapon, Françoise, Lagrange, Emmeline, Gaudon, Karen, Bloch, Adrien, Ghanem, Robin, Guyant-Maréchal, Lucie, Johari, Mridul, Van Goethem, Charles, Fardeau, Michel, Morales, Raul Juntas, Genetti, Casie A, Marttila, Minttu, Koenig, Michel, Beggs, Alan H, Udd, Bjarne, Bonne, Gisèle, Cossée, Mireille

المصدر: Journal of Medical Genetics, 61 (4), 369 - 377 (2024-03-21)

مصطلحات موضوعية: genetics, genomics, human genetics, neuromuscular diseases, Connectin, TTN protein, human, Humans, Connectin/genetics, DNA Copy Number Variations/genetics, Muscle, Skeletal/pathology, Mutation/genetics, Phenotype, Distal Myopathies/genetics, Distal Myopathies, DNA Copy Number Variations, Muscle, Skeletal, Mutation, Genetics (clinical), Human health sciences, Pediatrics, Sciences de la santé humaine, Pédiatrie

Relation: https://syndication.highwire.org/content/doi/10.1136/jmg-2023-109473; urn:issn:0022-2593; urn:issn:1468-6244

URL الوصول: https://orbi.uliege.be/handle/2268/325163

المؤلفون: French, Courtney E., Andrews, Nancy C., Beggs, Alan H., Boone, Philip M., Brownstein, Catherine A., Chopra, Maya, Chou, Janet, Chung, Wendy K., D’Gama, Alissa M., Doan, Ryan N., Ebrahimi-Fakhari, Darius, Goldstein, Richard D., Irons, Mira, Jacobsen, Christina, Kenna, Margaret, Lee, Ted, Madden, Jill A., Majmundar, Amar J., Mann, Nina, Morton, Sarah U., Poduri, Annapurna, Randolph, Adrienne G., Roberts, Amy E., Roberts, Stephanie, Sampson, Matthew G., Shao, Diane D., Shao, Wanqing, Sharma, Aditi, Shearer, Eliot, Shimamura, Akiko, Snapper, Scott B., Srivastava, Siddharth, Thiagarajah, Jay R., Whitman, Mary C., Wojcik, Monica H., Rockowitz, Shira, Sliz, Piotr

المساهمون: Institutional funding from Boston Children's Hospital

المصدر: npj Genomic Medicine ; volume 9, issue 1 ; ISSN 2056-7944

الاتاحة: https://doi.org/10.1038/s41525-024-00441-9
https://www.nature.com/articles/s41525-024-00441-9.pdf
https://www.nature.com/articles/s41525-024-00441-9

المؤلفون: Töpf, Ana, Cox, Dan, Zaharieva, Irina T., Di Leo, Valeria, Sarparanta, Jaakko, Jonson, Per Harald, Sealy, Ian M., Smolnikov, Andrei, White, Richard J., Vihola, Anna, Savarese, Marco, Merteroglu, Munise, Wali, Neha, Laricchia, Kristen M., Venturini, Cristina, Vroling, Bas, Stenton, Sarah L., Cummings, Beryl B., Harris, Elizabeth, Marini-Bettolo, Chiara, Diaz-Manera, Jordi, Henderson, Matt, Barresi, Rita, Duff, Jennifer, England, Eleina M., Patrick, Jane, Al-Husayni, Sundos, Biancalana, Valérie, Beggs, Alan H., Bodi, Istvan, Bommireddipalli, Shobhana, Bönnemann, Carsten G., Cairns, Anita, Chiew, Mei-Ting, Claeys, Kristl G., Cooper, Sandra T., Davis, Mark R., Donkervoort, Sandra, Erasmus, Corrie E., Fassad, Mahmoud R., Genetti, Casie A., Grosmann, Carla, Jungbluth, Heinz, Kamsteeg, Erik-Jan, Lornage, Xavière, Löscher, Wolfgang N., Malfatti, Edoardo, Manzur, Adnan, Martí, Pilar, Mongini, Tiziana E., Muelas, Nuria, Nishikawa, Atsuko, O’donnell-Luria, Anne, Ogonuki, Narumi, O’grady, Gina L., O’heir, Emily, Paquay, Stéphanie, Phadke, Rahul, Pletcher, Beth A., Romero, Norma B., Schouten, Meyke, Shah, Snehal, Smuts, Izelle, Sznajer, Yves, Tasca, Giorgio, Taylor, Robert W., Tuite, Allysa, van den Bergh, Peter, Vannoy, Grace, Voermans, Nicol C., Wanschitz, Julia V., Wraige, Elizabeth, Yoshimura, Kimihiko, Oates, Emily C., Nakagawa, Osamu, Nishino, Ichizo, Laporte, Jocelyn, Vilchez, Juan J., Macarthur, Daniel G., Sarkozy, Anna, Cordell, Heather J., Udd, Bjarne, Busch-Nentwich, Elisabeth M., Muntoni, Francesco, Straub, Volker

المساهمون: Newcastle University Newcastle, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), ANR-10-LABX-0030,INRT,Integrative Biology : Nuclear dynamics- Regenerative medicine - Translational medicine(2010), ANR-10-INBS-0009,France Génomique,Organisation et montée en puissance d'une Infrastructure Nationale de Génomique(2010), ANR-10-IDEX-0002,UNISTRA,Par-delà les frontières, l'Université de Strasbourg(2010), European Project: 305121,EC:FP7:HEALTH,FP7-HEALTH-2012-INNOVATION-1,NEUROMICS(2012), European Project: 779257,Solve-RD

المصدر: ISSN: 1061-4036.

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

Relation: info:eu-repo/grantAgreement/EC/FP7/305121/EU/Integrated European –omics research project for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases/NEUROMICS; info:eu-repo/grantAgreement//779257/EU/European Union's Horizon 2020 research and innovation program/Solve-RD

الاتاحة: https://hal.science/hal-04699537
https://hal.science/hal-04699537v1/document
https://hal.science/hal-04699537v1/file/islandora_171817.pdf
https://doi.org/10.1038/s41588-023-01651-0

المؤلفون: Töpf, A. (Ana), Cox, D. (Dan), Zaharieva, Irina T., Di Leo, V. (Valeria), Sarparanta, J. (Jaakko), Jonson, P. (Per Harald), Sealy, Ian M., Smolnikov, A. (Andrei), White, Richard J., Vihola, A. (Anna), Savarese, M. (Marco), Merteroglu, M. (Munise), Wali, N. (Neha), Laricchia, Kristen M., Venturini, C. (Cristina), Vroling, B. (Bas), Stenton, Sarah L., Cummings, Beryl B., Harris, E. (Elizabeth), Marini-Bettolo, C. (Chiara), Diaz-Manera, J. (Jordi), Henderson, M. (Matt), Barresi, R. (Rita), Duff, J. (Jennifer), England, Eleina M., Patrick, J. (Jane), Al-Husayni, S. (Sundos), Biancalana, V. (Valérie), Beggs, Alan H., Bodi, I. (Istvan), Bommireddipalli, S. (Shobhana), Bönnemann, Carsten G., Cairns, A. (Anita), Chiew, M. (Mei-Ting), Claeys, Kristl G., Cooper, Sandra T., Davis, Mark R., Donkervoort, S. (Sandra), Erasmus, Corrie E., Fassad, Mahmoud R., Genetti, Casie A., Grosmann, C. (Carla), Jungbluth, H. (Heinz), Kamsteeg, E. (Erik-Jan), Lornage, X. (Xavière), Löscher, Wolfgang N., Malfatti, E. (Edoardo), Manzur, A. (Adnan), Martí, P. (Pilar), Mongini, Tiziana E., Muelas, N. (Nuria), Nishikawa, A. (Atsuko), O’Donnell-Luria, A. (Anne), Ogonuki, N. (Narumi), O’Grady, Gina L., O’Heir, E. (Emily), Paquay, S. (Stéphanie), Phadke, R. (Rahul), Pletcher, Beth A., Romero, Norma B., Schouten, M. (Meyke), Shah, S. (Snehal), Smuts, I. (Izelle), Sznajer, Y. (Yves), Tasca, G. (Giorgio), Taylor, Robert W., Tuite, A. (Allysa), Van den Bergh, P. (Peter), VanNoy, G. (Grace), Voermans, Nicol C., Wanschitz, Julia V., Wraige, E. (Elizabeth), Yoshimura, K. (Kimihiko), Oates, Emily C., Nakagawa, O. (Osamu), Nishino, I. (Ichizo), Laporte, J. (Jocelyn), Vilchez, Juan J., MacArthur, Daniel G., Sarkozy, A. (Anna), Cordell, Heather J., Udd, B. (Bjarne), Busch-Nentwich, Elisabeth M., Muntoni, F. (Francesco), Straub, V. (Volker)

مصطلحات موضوعية: Sciences du Vivant [q-bio]/Génétique

الاتاحة: https://www.nature.com/articles/s41588-023-01651-0

المؤلفون: de Winter, Josine M., Molenaar, Joery P., Yuen, Michaela, van der Pijl, Robbert, Shen, Shengyi, Conijn, Stefan, van de Locht, Martijn, Willigenburg, Menne, Bogaards, Sylvia Jp, van Kleef, Esmee Sb, Lassche, Saskia, Persson, Malin, Rassier, Dilson E., Sztal, Tamar E., Ruparelia, Avnika A., Oorschot, Viola, Ramm, Georg, Hall, Thomas E., Xiong, Zherui, Johnson, Christopher N., Li, Frank, Kiss, Balazs, Lozano-Vidal, Noelia, Boon, Reinier A., Marabita, Manuela, Nogara, Leonardo, Blaauw, Bert, Rodenburg, Richard J., Küsters, Benno, Doorduin, Jonne, Beggs, Alan H., Granzier, Henk, Campbell, Ken, Ma, Weikang, Irving, Thomas, Malfatti, Edoardo, Romero, Norma B., Bryson-Richardson, Robert J., van Engelen, Baziel Gm, Voermans, Nicol C., Ottenheijm, Coen Ac

المصدر: de Winter , J M , Molenaar , J P , Yuen , M , van der Pijl , R , Shen , S , Conijn , S , van de Locht , M , Willigenburg , M , Bogaards , S J , van Kleef , E S , Lassche , S , Persson , M , Rassier , D E , Sztal , T E , Ruparelia , A A , Oorschot , V , Ramm , G , Hall , T E , Xiong , Z , Johnson , C N , Li , F , ....

Relation: https://research.vumc.nl/en/publications/85cc5ed1-955c-4faa-aba5-a2c68c09fae3

الاتاحة: https://research.vumc.nl/en/publications/85cc5ed1-955c-4faa-aba5-a2c68c09fae3
https://doi.org/10.1172/JCI179111
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85184115254&origin=inward
https://www.ncbi.nlm.nih.gov/pubmed/38299595

المؤلفون: Rybalka, Emma, Park, Hyung Jun, Nalini, Atchayaram, Baskar, Dipti, Polavarapu, Kiran, Durmus, Hacer, Xia, Yang, Wan, Linlin, Shieh, Perry B, Moghadaszadeh, Behzad, Beggs, Alan H, Mack, David L, Smith, Alec ST, Hanna-Rose, Wendy, Jinnah, Hyder, Timpani, Cara A, Shen, Min, Upadhyay, Jaymin, Brault, Jeffrey J, Hall, Matthew D, Baweja, Naveen, Kakkar, Priyanka

مصطلحات موضوعية: 3101 Biochemistry and cell biology, College of Health and Biomedicine, adenylosuccinate synthetase 1 myopathy, ADSS1 myopathy, inborn error of metabolism, purine disorder, ultra-rare neuromuscular disease, skeletal muscle, cardiac muscle, clinical presentation, pre-clinical models, therapeutics, biomarkers, consortium, guidelines

وصف الملف: text

Relation: https://vuir.vu.edu.au/48582/; https://vuir.vu.edu.au/48582/4/Rybalka%20et%20al%20ADSS1%20myopathy%20meeting%20report_FINAL%20%281%29.pdf; Rybalka, Emma orcid:0000-0002-4854-0036 , Park, Hyung Jun, Nalini, Atchayaram, Baskar, Dipti, Polavarapu, Kiran orcid:0000-0002-8879-6001 , Durmus, Hacer, Xia, Yang, Wan, Linlin, Shieh, Perry B, Moghadaszadeh, Behzad orcid:0000-0001-9787-0106 , Beggs, Alan H orcid:0000-0001-8818-0568 , Mack, David L, Smith, Alec ST, Hanna-Rose, Wendy, Jinnah, Hyder, Timpani, Cara A, Shen, Min, Upadhyay, Jaymin, Brault, Jeffrey J, Hall, Matthew D, Baweja, Naveen and Kakkar, Priyanka (2024) Current insights in ultra-rare adenylosuccinate synthetase 1 myopathy – Meeting report on the First Clinical and Scientific Conference. 3 June 2024, National Centre for Advancing Translational Science, Rockville, Maryland, the United States of America. (Submitted)

الاتاحة: https://vuir.vu.edu.au/48582/
https://vuir.vu.edu.au/48582/4/Rybalka%20et%20al%20ADSS1%20myopathy%20meeting%20report_FINAL%20%281%29.pdf

المؤلفون: Möller, Birk, Becker, Lena-Luise, Saffari, Afshin, Afenjar, Alexandra, Coci, Emanuele G, Williamson, Rachel, Ward-Melver, Catherine, Gibaud, Marc, Sedlácková, Lucie, Laššuthová, Petra, Libá, Zuzana, Vlcková, Markéta, William, Nancy, Klee, Eric W, Gavrilova, Ralitza H, Lévy, Jonathan, Capri, Yline, Scavina, Mena, Körner, Robert Walter, Valuvullah, Zaheer, Weiß, Claudia, Möller, Greta Marit, Thiel, Moritz, Sinnema, Margje, Kamsteeg, Erik-Jan, Donkervoort, Sandra, Duboc, Veronique, Zaafrane-Khachnaoui, Khaoula, Elkhateeb, Nour, Selim, Laila, Margot, Henri, Marin, Victor, Beneteau, Claire, Isidor, Bertrand, Cogne, Benjamin, Keren, Boris, Küsters, Benno, Beggs, Alan H, Genetti, Casie A, Nicolai, Joost, Dötsch, Jörg, Koy, Anne, Bönnemann, Carsten G, von der Hagen, Maja, von Kleist-Retzow, Jürgen-Christoph, Voermans, Nicol, Jungbluth, Heinz, Dafsari, Hormos Salimi

المصدر: Möller , B , Becker , L-L , Saffari , A , Afenjar , A , Coci , E G , Williamson , R , Ward-Melver , C , Gibaud , M , Sedlácková , L , Laššuthová , P , Libá , Z , Vlcková , M , William , N , Klee , E W , Gavrilova , R H , Lévy , J , Capri , Y , Scavina , M , Körner , R W , Valuvullah , Z , Weiß , C , Möller , G M , Thiel , M , Sinnema , ....

مصطلحات موضوعية: autophagy, intracellular trafficking, neurodevelopmental disorders, viral immunity

Relation: https://cris.maastrichtuniversity.nl/en/publications/46f506eb-dc8e-469a-92e3-91640957b169

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/46f506eb-dc8e-469a-92e3-91640957b169
https://doi.org/10.1093/brain/awae183

المؤلفون: Li, Qifei, Lin, Jasmine, Luo, Shiyu, Schmitz‐Abe, Klaus, Agrawal, Rohan, Meng, Melissa, Moghadaszadeh, Behzad, Beggs, Alan H., Liu, Xiaoli, Perrella, Mark A., Agrawal, Pankaj B.

المساهمون: National Institutes of Health

المصدر: Journal of Cachexia, Sarcopenia and Muscle ; volume 15, issue 3, page 1003-1015 ; ISSN 2190-5991 2190-6009

الاتاحة: http://dx.doi.org/10.1002/jcsm.13470
https://onlinelibrary.wiley.com/doi/pdf/10.1002/jcsm.13470

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: Lemire, Gabrielle, Sanchis-Juan, Alba, Russell, Kathryn, Baxter, Samantha, Chao, Katherine R., Singer-Berk, Moriel, Groopman, Emily, Wong, Isaac, England, Eleina, Goodrich, Julia, Pais, Lynn, Austin-Tse, Christina, DiTroia, Stephanie, O’Heir, Emily, Ganesh, Vijay S., Wojcik, Monica H., Evangelista, Emily, Snow, Hana, Osei-Owusu, Ikeoluwa, Fu, Jack, Singh, Mugdha, Mostovoy, Yulia, Huang, Steve, Garimella, Kiran, Kirkham, Samantha L., Neil, Jennifer E., Shao, Diane D., Walsh, Christopher A., Argilli, Emanuela, Le, Carolyn, Sherr, Elliott H., Gleeson, Joseph G., Shril, Shirlee, Schneider, Ronen, Hildebrandt, Friedhelm, Sankaran, Vijay G., Madden, Jill A., Genetti, Casie A., Beggs, Alan H., Agrawal, Pankaj B., Bujakowska, Kinga M., Place, Emily, Pierce, Eric A., Donkervoort, Sandra, Bönnemann, Carsten G., Gallacher, Lyndon, Stark, Zornitza, Tan, Tiong Yang, White, Susan M., Töpf, Ana

المساهمون: European Research Council, Ultragenyx, LGMD2I Research Fund, Murdoch Children's Research Institute, Kurt+Peter Foundation, LGMD2D Foundation, Quebec Health Research Fund, Sanofi US, Massachusetts General Hospital, National Institute of Child Health and Human Development, National Institute of Mental Health, National Human Genome Research Institute, National Institute of Diabetes and Digestive and Kidney Diseases, National Institute of Dental and Craniofacial Research, Autism Speaks, Foundation Fighting Blindness Inc, National Health and Medical Research Council, TÜBİTAK, Estonian Research and Development Council, Muscular Dystrophy UK

المصدر: The American Journal of Human Genetics ; volume 111, issue 5, page 863-876 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2024.03.008
https://api.elsevier.com/content/article/PII:S0002929724000818?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929724000818?httpAccept=text/plain

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: Lawlor, Michael W., Schoser, Benedikt, Margeta, Marta, Sewry, Caroline A., Jones, Karra A., Shieh, Perry B., Kuntz, Nancy L., Smith, Barbara K., Dowling, James J., Müller-Felber, Wolfgang, Bönnemann, Carsten G., Seferian, Andreea M., Blaschek, Astrid, Neuhaus, Sarah, Foley, A. Reghan, Saade, Dimah N., Tsuchiya, Etsuko, Qasim, Ummulwara R., Beatka, Margaret, Prom, Mariah J., Ott, Emily, Danielson, Susan, Krakau, Paul, Kumar, Suresh N., Meng, Hui, Vanden Avond, Mark, Wells, Clive, Gordish-Dressman, Heather, Beggs, Alan H., Christensen, Sarah, Conner, Edward, James, Emma S., Lee, Jun, Sadhu, Chanchal, Miller, Weston, Sepulveda, Bryan, Varfaj, Fatbardha, Prasad, Suyash, Rico, Salvador

المصدر: eBioMedicine ; volume 99, page 104894 ; ISSN 2352-3964

الاتاحة: http://dx.doi.org/10.1016/j.ebiom.2023.104894
https://api.elsevier.com/content/article/PII:S2352396423004607?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2352396423004607?httpAccept=text/plain

المؤلفون: Birgmeier, Johannes, Haeussler, Maximilian, Deisseroth, Cole A, Steinberg, Ethan H, Jagadeesh, Karthik A, Ratner, Alexander J, Guturu, Harendra, Wenger, Aaron M, Diekhans, Mark E, Stenson, Peter D, Cooper, David N, Ré, Christopher, Beggs, Alan H, Bernstein, Jonathan A, Bejerano, Gill

المصدر: Science Translational Medicine. 12(544)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Rare Diseases, Genetics, Detection, screening and diagnosis, 4.1 Discovery and preclinical testing of markers and technologies, Child, Exome, Genotype, Humans, Phenotype, Probability, Retrospective Studies, Biological Sciences, Medical and Health Sciences, Medical biotechnology, Biomedical engineering

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4hv9h8vv

المؤلفون: Mackay, Zoë P, Dukhovny, Dmitry, Phillips, Kathryn A, Beggs, Alan H, Green, Robert C, Parad, Richard B, Christensen, Kurt D, Team, BabySeq Project, Agrawal, Pankaj B, Ceyhan-Birsoy, Ozge, Fayer, Shawn, Frankel, Leslie A, Genetti, Casie A, Gutierrez, Amanda M, Harden, Maegan, Holm, Ingrid A, Krier, Joel B, Lebo, Matthew S, Machini, Kalotina, McGuire, Amy L, Naik, Medha, Nguyen, Tiffany T, Pereira, Stacey, Ramanathan, Vivek, Rehm, Heidi L, Roberts, Amy, Robinson, Jill O, Roumiantsev, Sergei, Schwartz, Talia S, Truong, Tina K, VanNoy, Grace E, Waisbren, Susan E, Yu, Timothy W

المصدر: Value in Health. 23(5)

مصطلحات موضوعية: Health Services and Systems, Health Sciences, Health Services, Genetics, Clinical Research, Human Genome, 7.3 Management and decision making, 8.1 Organisation and delivery of services, Generic health relevance, Good Health and Well Being, Female, Genetic Testing, Genomics, Humans, Infant, Longitudinal Studies, Male, Parents, Patient Acceptance of Health Care, Risk Factors, Surveys and Questionnaires, Telephone, genetic testing, genomics, healthcare utilization, health services, humans, infant, newborn, medical records, risk factors, surveys and questionnaires, whole exome sequencing, BabySeq Project Team, Public Health and Health Services, Applied Economics, Health Policy & Services, Applied economics, Health services and systems, Policy and administration

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8b3826xr
https://escholarship.org/content/qt8b3826xr/qt8b3826xr.pdf

المؤلفون: Shieh, Perry B, Kuntz, Nancy L, Dowling, James J, Müller-Felber, Wolfgang, Bönnemann, Carsten G, Seferian, Andreea M, Servais, Laurent, Smith, Barbara K, Muntoni, Francesco, Blaschek, Astrid, Foley, A Reghan, Saade, Dimah N, Neuhaus, Sarah, Alfano, Lindsay N, Beggs, Alan H, Buj-Bello, Ana, Childers, Martin K, Duong, Tina, Graham, Robert J, Jain, Minal, Coats, Julie, MacBean, Vicky, James, Emma S, Lee, Jun, Mavilio, Fulvio, Miller, Weston, Varfaj, Fatbardha, Murtagh, Michael, Han, Cong, Noursalehi, Mojtaba, Lawlor, Michael W, Prasad, Suyash, Rico, Salvador

المصدر: The Lancet Neurology, 22 (12), 1125 - 1139 (2023-12)

مصطلحات موضوعية: Male, Child, Humans, Infant, Child, Preschool, France, Genetic Therapy/adverse effects, Germany, Treatment Outcome, Myopathies, Structural, Congenital/genetics, Myopathies, Structural, Congenital/therapy, Sepsis, Genetic Therapy, Myopathies, Structural, Congenital, Neurology (clinical), Human health sciences, Pediatrics, Sciences de la santé humaine, Pédiatrie

Relation: https://api.elsevier.com/content/article/PII:S1474442223003137?httpAccept=text/xml; urn:issn:1474-4422; urn:issn:1474-4465

URL الوصول: https://orbi.uliege.be/handle/2268/324969

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