المؤلفون: Panpan Long, Le Wang, Hangjing Tan, Ruping Quan, Zihao Hu, Minghua Zeng, Ziheng Deng, Hualin Huang, Jonathan Greenbaum, Hongwen Deng, Hongmei Xiao

المصدر: Journal of Ovarian Research, Vol 17, Iss 1, Pp 1-10 (2024)

مصطلحات موضوعية: Whole-exome sequencing, Gene-burden analysis, Oligogenic inheritance, Premature ovarian insufficiency, ORVAL platform, Gynecology and obstetrics, RG1-991

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1757-2215Test

الوصول الحر: https://doaj.org/article/3a4bbb22af424cc486f0ba158146c9eaTest

المؤلفون: Megan J. Puckelwartz, Lorenzo L. Pesce, Edgar J. Hernandez, Gregory Webster, Lisa M. Dellefave-Castillo, Mark W. Russell, Sarah S. Geisler, Samuel D. Kearns, Felix Karthik, Susan P. Etheridge, Tanner O. Monroe, Tess D. Pottinger, Prince J. Kannankeril, M. Benjamin Shoemaker, Darlene Fountain, Dan M. Roden, Meghan Faulkner, Heather M. MacLeod, Kristin M. Burns, Mark Yandell, Martin Tristani-Firouzi, Alfred L. George, Elizabeth M. McNally

المصدر: Genome Medicine, Vol 16, Iss 1, Pp 1-13 (2024)

مصطلحات موضوعية: Sudden death in the young, Genome sequencing, Epilepsy, Arrhythmia, Cardiomyopathy, Gene burden, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1756-994XTest

الوصول الحر: https://doaj.org/article/754c31b062b14f8fb5738e1f18f62142Test

المؤلفون: Megan J. Puckelwartz, Lorenzo L. Pesce, Edgar J. Hernandez, Gregory Webster, Lisa M. Dellefave-Castillo, Mark W. Russell, Sarah S. Geisler, Samuel D. Kearns, Felix Karthik, Susan P. Etheridge, Tanner O. Monroe, Tess D. Pottinger, Prince J. Kannankeril, M. Benjamin Shoemaker, Darlene Fountain, Dan M. Roden, Meghan Faulkner, Heather M. MacLeod, Kristin M. Burns, Mark Yandell, Martin Tristani-Firouzi, Alfred L. George, Elizabeth M. McNally

مصطلحات موضوعية: Genetics, Sudden death in the young, Genome sequencing, Epilepsy, Arrhythmia, Cardiomyopathy, Gene burden

العلاقة: https://figshare.com/articles/journal_contribution/Additional_file_1_of_The_impact_of_damaging_epilepsy_and_cardiac_genetic_variant_burden_in_sudden_death_in_the_young/25010477Test

الإتاحة: https://doi.org/10.6084/m9.figshare.25010477.v1Test
https://figshare.com/articles/journal_contribution/Additional_file_1_of_The_impact_of_damaging_epilepsy_and_cardiac_genetic_variant_burden_in_sudden_death_in_the_young/25010477Test

المؤلفون: Martin M. C. Chui, Christopher C. Y. Mak, Mullin H. C. Yu, Sandra Y. Y. Wong, Kin‐Shing Lun, Tak‐Cheung Yung, Anna K. Y. Kwong, Pak‐Cheong Chow, Brian H. Y. Chung

المصدر: Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 12, Iss 4 (2023)

مصطلحات موضوعية: cardiac defects, congenital heart disease, conotruncal, gene burden, genetic testing, Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2047-9980Test

الوصول الحر: https://doaj.org/article/f152f40bc0b14ad496b0c3aee1ceb1cdTest

المؤلفون: Chia, Ruth, Ray, Anindita, Shah, Zalak, Ding, Jinhui, Ruffo, Paola, Fujita, Masashi, Menon, Vilas, Saez-Atienzar, Sara, Reho, Paolo, Kaivola, Karri, Walton, Ronald L., Reynolds, Regina H., Karra, Ramita, Sait, Shaimaa, Akcimen, Fulya, Diez-Fairen, Monica, Alvarez, Ignacio, Fanciulli, Alessandra, Stefanova, Nadia, Seppi, Klaus, Duerr, Susanne, Leys, Fabian, Krismer, Florian, Sidoroff, Victoria, Zimprich, Alexander, Pirker, Walter, Rascol, Olivier, Foubert-Samier, Alexandra, Meissner, Wassilios G., Tison, François, Pavy-Le Traon, Anne, Pellecchia, Maria Teresa, Barone, Paolo, Russillo, Maria Claudia, Marín-Lahoz, Juan, Kulisevsky, Jaime, Torres, Soraya, Mir, Pablo, Periñán, Maria Teresa, Proukakis, Christos, Chelban, Viorica, Wu, Lesley, Goh, Yee Y., Parkkinen, Laura, Hu, Michele T., Kobylecki, Christopher, Saxon, Jennifer A., Rollinson, Sara, Garland, Emily, Biaggioni, Italo, Litvan, Irene, Rubio, Ileana, Alcalay, Roy N., Kwei, Kimberly T., Lubbe, Steven J., Mao, Qinwen, Flanagan, Margaret E., Castellani, Rudolph J., Khurana, Vikram, Ndayisaba, Alain, Calvo, Andrea, Mora, Gabriele, Canosa, Antonio, Floris, Gianluca, Bohannan, Ryan C., Moore, Anni, Norcliffe-Kaufmann, Lucy, Palma, Jose-Alberto, Kaufmann, Horacio, Kim, Changyoun, Iba, Michiyo, Masliah, Eliezer, Dawson, Ted M., Rosenthal, Liana S., Pantelyat, Alexander, Albert, Marilyn S., Pletnikova, Olga, Troncoso, Juan C., Infante, Jon, Lage, Carmen, Sánchez-Juan, Pascual, Serrano, Geidy E., Beach, Thomas G., Pastor, Pau, Morris, Huw R., Albani, Diego, Clarimon, Jordi, Wenning, Gregor K., Hardy, John A., Ryten, Mina, Topol, Eric, Torkamani, Ali, Chiò, Adriano, Bennett, David A., De Jager, Philip L., Low, Philip A., Singer, Wolfgang, Cheshire, William P., Wszolek, Zbigniew K., Dickson, Dennis W., Traynor, Bryan J., Gibbs, J. Raphael, Dalgard, Clifton L., Ross, Owen A., Houlden, Henry, Scholz, Sonja W.

المساهمون: Chia, Ruth, Ray, Anindita, Shah, Zalak, Ding, Jinhui, Ruffo, Paola, Fujita, Masashi, Menon, Vila, Saez-Atienzar, Sara, Reho, Paolo, Kaivola, Karri, Walton, Ronald L., Reynolds, Regina H., Karra, Ramita, Sait, Shaimaa, Akcimen, Fulya, Diez-Fairen, Monica, Alvarez, Ignacio, Fanciulli, Alessandra, Stefanova, Nadia, Seppi, Klau, Duerr, Susanne, Leys, Fabian, Krismer, Florian, Sidoroff, Victoria, Zimprich, Alexander, Pirker, Walter, Rascol, Olivier, Foubert-Samier, Alexandra, Meissner, Wassilios G., Tison, Françoi, Pavy-Le Traon, Anne, Pellecchia, Maria Teresa, Barone, Paolo, Russillo, Maria Claudia, Marín-Lahoz, Juan, Kulisevsky, Jaime, Torres, Soraya, Mir, Pablo, Periñán, Maria Teresa, Proukakis, Christo, Chelban, Viorica, Wu, Lesley, Goh, Yee Y., Parkkinen, Laura, Hu, Michele T., Kobylecki, Christopher, Saxon, Jennifer A., Rollinson, Sara, Garland, Emily, Biaggioni, Italo, Litvan, Irene, Rubio, Ileana, Alcalay, Roy N., Kwei, Kimberly T., Lubbe, Steven J., Mao, Qinwen, Flanagan, Margaret E., Castellani, Rudolph J., Khurana, Vikram, Ndayisaba, Alain, Calvo, Andrea, Mora, Gabriele, Canosa, Antonio, Floris, Gianluca, Bohannan, Ryan C., Moore, Anni, Norcliffe-Kaufmann, Lucy, Palma, Jose-Alberto, Kaufmann, Horacio, Kim, Changyoun, Iba, Michiyo, Masliah, Eliezer, Dawson, Ted M., Rosenthal, Liana S., Pantelyat, Alexander, Albert, Marilyn S., Pletnikova, Olga, Troncoso, Juan C., Infante, Jon, Lage, Carmen, Sánchez-Juan, Pascual, Serrano, Geidy E., Beach, Thomas G., Pastor, Pau, Morris, Huw R., Albani, Diego, Clarimon, Jordi, Wenning, Gregor K., Hardy, John A., Ryten, Mina, Topol, Eric, Torkamani, Ali, Chiò, Adriano, Bennett, David A., De Jager, Philip L., Low, Philip A., Singer, Wolfgang, Cheshire, William P., Wszolek, Zbigniew K., Dickson, Dennis W.

مصطلحات موضوعية: GWAS, MSA, TWAS, colocalization, gene-burden analysi, genome-wide association study, multiple system atrophy, pathway analysi, repeat expansion mapping, transcriptome-wide association study, whole genome sequencing

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38701790; firstpage:1; lastpage:15; numberofpages:15; journal:NEURON; https://hdl.handle.net/11386/4868519Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85193449341

الإتاحة: https://doi.org/10.1016/j.neuron.2024.04.002Test
https://hdl.handle.net/11386/4868519Test

المؤلفون: Puckelwartz, Megan J, Pesce, Lorenzo L, Hernandez, Edgar J, Webster, Gregory, Dellefave-Castillo, Lisa M, Russell, Mark W, Geisler, Sarah S, Kearns, Samuel D, Karthik, Felix, Etheridge, Susan P, Monroe, Tanner O, Pottinger, Tess D, Kannankeril, Prince J, Shoemaker, M Benjamin, Fountain, Darlene, Roden, Dan M, Faulkner, Meghan, MacLeod, Heather M, Burns, Kristin M, Yandell, Mark, Tristani-Firouzi, Martin, George, Alfred L, McNally, Elizabeth M

المصدر: Genome Med ; ISSN:1756-994X ; Volume:16 ; Issue:1

مصطلحات موضوعية: Arrhythmia, Cardiomyopathy, Epilepsy, Gene burden, Genome sequencing, Sudden death in the young

العلاقة: https://doi.org/10.1186/s13073-024-01284-wTest; https://pubmed.ncbi.nlm.nih.gov/38229148Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10792876Test/

الإتاحة: https://doi.org/10.1186/s13073-024-01284-wTest
https://pubmed.ncbi.nlm.nih.gov/38229148Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10792876Test/

المؤلفون: Park, Joohyun, Tucci, Arianna, Cipriani, Valentina, Demidov, German, Rocca, Clarissa, Senderek, Jan, Butryn, Michaela, Velic, Ana, Lam, Tanya, Galanaki, Evangelia, Cali, Elisa, Vestito, Letizia, Maroofian, Reza, Deininger, Natalie, Rautenberg, Maren, Admard, Jakob, Hahn, Gesa-Astrid, Bartels, Claudius, van Os, Nienke JH, Horvath, Rita, Chinnery, Patrick F, Tiet, May Yung, Hewamadduma, Channa, Hadjivassiliou, Marios, Tofaris, George K, Genomics England Research Consortium, Wood, Nicholas W, Hayer, Stefanie N, Bender, Friedemann, Menden, Benita, Cordts, Isabell, Klein, Katrin, Nguyen, Huu Phuc, Krauss, Joachim K, Blahak, Christian, Strom, Tim M, Sturm, Marc, van de Warrenburg, Bart, Lerche, Holger, Maček, Boris, Synofzik, Matthis, Ossowski, Stephan, Timmann, Dagmar, Wolf, Marc E, Smedley, Damian, Riess, Olaf, Schöls, Ludger, Houlden, Henry, Haack, Tobias B, Hengel, Holger

المصدر: Genetics in Medicine , 24 (10) pp. 2079-2090. (2022)

مصطلحات موضوعية: Gene burden, Proteomics, Spastic ataxia, UCHL1

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10159885/2/Houlden_UCHL1_main_document_PARK_revised_clean%2Bnew%20patient.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10159885Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10159885/2/Houlden_UCHL1_main_document_PARK_revised_clean%2Bnew%20patient.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10159885Test/

المؤلفون: Aintzane Urbizu (381010), Melanie E. Garrett (8578323), Karen Soldano (167738), Oliver Drechsel (840861), Dorothy Loth (10783238), Anna Marcé-Grau (840863), Olga Mestres i Soler (10783241), Maria A. Poca (10783244), Stephan Ossowski (209903), Alfons Macaya (313600), Francis Loth (469251), Rick Labuda (10783247), Allison Ashley-Koch (73611)

مصطلحات موضوعية: Biophysics, Biochemistry, Medicine, Genetics, Neuroscience, Cancer, Mental Health, Plant Biology, gene burden analysis, COL 7A, EDS candidate genes, Chiari Malformation Type 1 Chiari M., collagen genes, COL 6A, CTD, COL 3A, FLT, COL 5A, Spanish family, Ehlers Danlos Syndrome, DST, VEGFB, CM -1. Targeted sequencing, Spanish multiplex family, ADGRB, Cranial bone constriction, COL 6A co-segregated, tissue disorders, COL 6A gene, COL 1A

العلاقة: https://figshare.com/articles/journal_contribution/PCR_conditions_used_to_validate_variants_identified_in_targeted_sequencing_of_Duke_and_Chiari1000_cohorts_/14574710Test

الإتاحة: https://doi.org/10.1371/journal.pone.0251289.s004Test

المؤلفون: Aintzane Urbizu (381010), Melanie E. Garrett (8578323), Karen Soldano (167738), Oliver Drechsel (840861), Dorothy Loth (10783238), Anna Marcé-Grau (840863), Olga Mestres i Soler (10783241), Maria A. Poca (10783244), Stephan Ossowski (209903), Alfons Macaya (313600), Francis Loth (469251), Rick Labuda (10783247), Allison Ashley-Koch (73611)

مصطلحات موضوعية: Biophysics, Biochemistry, Medicine, Genetics, Neuroscience, Cancer, Mental Health, Plant Biology, gene burden analysis, COL 7A, EDS candidate genes, Chiari Malformation Type 1 Chiari M., collagen genes, COL 6A, CTD, COL 3A, FLT, COL 5A, Spanish family, Ehlers Danlos Syndrome, DST, VEGFB, CM -1. Targeted sequencing, Spanish multiplex family, ADGRB, Cranial bone constriction, COL 6A co-segregated, tissue disorders, COL 6A gene, COL 1A

العلاقة: https://figshare.com/articles/journal_contribution/Primers_details_used_to_confirm_candidate_variants_identified_in_and_targeted_sequencing_/14574704Test

الإتاحة: https://doi.org/10.1371/journal.pone.0251289.s002Test

المؤلفون: Aintzane Urbizu (381010), Melanie E. Garrett (8578323), Karen Soldano (167738), Oliver Drechsel (840861), Dorothy Loth (10783238), Anna Marcé-Grau (840863), Olga Mestres i Soler (10783241), Maria A. Poca (10783244), Stephan Ossowski (209903), Alfons Macaya (313600), Francis Loth (469251), Rick Labuda (10783247), Allison Ashley-Koch (73611)

مصطلحات موضوعية: Biophysics, Biochemistry, Medicine, Genetics, Neuroscience, Cancer, Mental Health, Plant Biology, gene burden analysis, COL 7A, EDS candidate genes, Chiari Malformation Type 1 Chiari M., collagen genes, COL 6A, CTD, COL 3A, FLT, COL 5A, Spanish family, Ehlers Danlos Syndrome, DST, VEGFB, CM -1. Targeted sequencing, Spanish multiplex family, ADGRB, Cranial bone constriction, COL 6A co-segregated, tissue disorders, COL 6A gene, COL 1A

العلاقة: https://figshare.com/articles/journal_contribution/Primers_details_used_to_confirm_candidate_variants_identified_in_WES_/14574701Test

الإتاحة: https://doi.org/10.1371/journal.pone.0251289.s001Test