Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Zinayida Schlachetzki"'
Autor:
Amanda R. Clause, Julie P. Taylor, Revathi Rajkumar, Krista Bluske, Maren Bennett, Laura M. Amendola, David R. Bentley, Ryan J. Taft, Denise L. Perry, Alison J. Coffey, Carolyn Brown, Matthew P. Brown, Amanda Buchanan, Brendan Burns, Nicole J. Burns, Anjana Chandrasekhar, Aditi Chawla, Katie Golden-Grant, Akanchha Kesari, Alka Malhotra, Becky Milewski, Samin A. Sajan, Zinayida Schlachetzki, Sarah Schmidt, Brittany Thomas, Erin Thorpe
Publikováno v:
Cell Genomics, Vol 3, Iss 2, Pp 100258- (2023)
Summary: Current standards in clinical genetics recognize the need to establish the validity of gene-disease relationships as a first step in the interpretation of sequence variants. We describe our experience incorporating the ClinGen Gene-Disease C
Externí odkaz:
https://doaj.org/article/4617a18d8ea746a9a7fa08a4e35b6389
Autor:
Julie P. Taylor, Alka Malhotra, Nicole J. Burns, Amanda R. Clause, Carolyn M. Brown, Brendan T. Burns, Anjana Chandrasekhar, Zinayida Schlachetzki, Maren Bennett, Erin Thorpe, Ryan J. Taft, Denise L. Perry, Alison J. Coffey
Publikováno v:
Human Mutation.
The use of whole-genome sequencing (WGS) has accelerated the pace of gene discovery and highlighted the need for open and collaborative data sharing in the search for novel disease genes and variants. GeneMatcher (GM) is designed to facilitate connec
Autor:
Kayla J, Muirhead, Amanda R, Clause, Zinayida, Schlachetzki, Holly, Dubbs, Denise L, Perry, R Tanner, Hagelstrom, Ryan J, Taft, Adeline, Vanderver
Publikováno v:
Cold Spring Harbor Molecular Case Studies
Undiagnosed genetic disease imposes a significant burden on families and health-care resources, especially in cases with a complex phenotype. Here we present a child with suspected leukodystrophy in the context of additional features, including heari
Autor:
Anjana Chandrasekhar, Zinayida Schlachetzki, Alison Coffey, Ali Fenstermaker, Richard Wang, Krista Bluske, Marcus Naymik, Sampath Rangasamy, Anna Bonfitto, Wayne Jepsen, Matt Huentelman, Vinodh Narayanan, Keri Ramsey, Akanchha Kesari, Denise Perry, Ryan Taft
Publikováno v:
Genetics in Medicine. 24:S206
Autor:
Tanner Hagelstrom, Zinayida Schlachetzki, Denise L. Perry, Ryan J. Taft, Holly Dubbs, Amanda Clause, Kayla J Muirhead, Adeline Vanderver
Publikováno v:
Molecular Case Studies. 7:a006143
Undiagnosed genetic disease imposes a significant burden on families and health-care resources, especially in cases with a complex phenotype. Here we present a child with suspected leukodystrophy in the context of additional features, including heari
Autor:
Ahmed Nabil, Khaled R. Gaber, Hasnaa M. Elbendary, Mahmoud Y. Issa, Valentina Stanley, Renee D. George, Jennifer McEvoy-Venneri, Mohamed Abdelhamid, Denice Belandres, Zinayida Schlachetzki, Joseph G. Gleeson, Maha S. Zaki
Publikováno v:
SSRN Electronic Journal.
Background: The causes for thousands of individually rare recessive diseases have been discovered since the adoption of next generation sequencing (NGS). Following molecular diagnosis in a child, families could use this information to make informed d
Autor:
Jens Lykke-Andersen, Marie-Cécile Nassogne, Nicola Foulds, Susan Blaser, Anne Gregor, Rea M. Lardelli, Stefania Maria Bova, Ashleigh E. Schaffer, Linda Warwick, Masaaki Shiina, Eric Scott, Hülya Kayserili, Murat Gunel, Linda De Meirleir, Ahmet Okay Caglayan, Luigina Spaccini, Kazuhiro Ogata, Ari Widjaja, Naiara Akizu, Naomichi Matsumoto, David Chitayat, Henrik Thybo Christesen, Stephanie Grainger, David K. Manchester, Laura Dean Heckman, Gene W. Yeo, Sebastian Markmiller, Kazuhiro Muramatsu, Rohit Mande, Maha S. Zaki, Zinayida Schlachetzki, Umut Altunoglu, Kimberly A. Aldinger, Maria Kibaek, Joseph G. Gleeson, Justin H Davies, Mary Louise Freckmann, Eric J. Bennett, Jennifer L. Silhavy, Timothy Shaw, Esra Dikoglu, David Traver, Hüseyin Per, Eric L. Van Nostrand, Neil C. Chi, Stacey Gabriel, Enza Maria Valente, Hirotomo Saitsu, Veerle Rc Eggens, Shashank Sathe, Rasim Ozgur Rosti, Christina Fagerberg, Kaya Bilguvar, Alicia Guemez-Gamboa, Frank Baas, Basak Rosti, Damir Musaev, Isaac Marin-Valencia, William B. Dobyns
Publikováno v:
Nature genetics
Nature Genetics, 49(3), 457-464
Nature Genetics, Vol. 49, no.3, p. 457-464 (2017)
Nature genetics, 49(3), 457-464. Nature Publishing Group
Lardelli, R M, Schaffer, A E, Eggens, V R C, Zaki, M S, Grainger, S, Sathe, S, Van Nostrand, E L, Schlachetzki, Z, Rosti, B, Akizu, N, Scott, E, Silhavy, J L, Heckman, L D, Rosti, R O, Dikoglu, E, Gregor, A, Guemez-Gamboa, A, Musaev, D, Mande, R, Widjaja, A, Shaw, T L, Markmiller, S, Marin-Valencia, I, Davies, J H, De Meirleir, L, Kayserili, H, Altunoglu, U, Freckmann, M L, Warwick, L, Chitayat, D, Blaser, S, Ça Layan, A O, Bilguvar, K, Per, H, Fagerberg, C, Christesen, H B T, Kibæk, M, Aldinger, K A, Manchester, D, Matsumoto, N, Muramatsu, K, Saitsu, H, Shiina, M, Ogata, K, Foulds, N, Dobyns, W B, Chi, N C, Traver, D, Spaccini, L, Bova, S M, Gabriel, S B, Gunel, M, Valente, E M, Nassogne, M C, Bennett, E J, Yeo, G W, Baas, F, Lykke-Andersen, J & Gleeson, J G 2017, ' Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing ', Nature Genetics, vol. 49, no. 3, pp. 457-464 . https://doi.org/10.1038/ng.3762
Nature genetics, vol 49, iss 3
Nature Genetics, 49(3), 457-464
Nature Genetics, Vol. 49, no.3, p. 457-464 (2017)
Nature genetics, 49(3), 457-464. Nature Publishing Group
Lardelli, R M, Schaffer, A E, Eggens, V R C, Zaki, M S, Grainger, S, Sathe, S, Van Nostrand, E L, Schlachetzki, Z, Rosti, B, Akizu, N, Scott, E, Silhavy, J L, Heckman, L D, Rosti, R O, Dikoglu, E, Gregor, A, Guemez-Gamboa, A, Musaev, D, Mande, R, Widjaja, A, Shaw, T L, Markmiller, S, Marin-Valencia, I, Davies, J H, De Meirleir, L, Kayserili, H, Altunoglu, U, Freckmann, M L, Warwick, L, Chitayat, D, Blaser, S, Ça Layan, A O, Bilguvar, K, Per, H, Fagerberg, C, Christesen, H B T, Kibæk, M, Aldinger, K A, Manchester, D, Matsumoto, N, Muramatsu, K, Saitsu, H, Shiina, M, Ogata, K, Foulds, N, Dobyns, W B, Chi, N C, Traver, D, Spaccini, L, Bova, S M, Gabriel, S B, Gunel, M, Valente, E M, Nassogne, M C, Bennett, E J, Yeo, G W, Baas, F, Lykke-Andersen, J & Gleeson, J G 2017, ' Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing ', Nature Genetics, vol. 49, no. 3, pp. 457-464 . https://doi.org/10.1038/ng.3762
Nature genetics, vol 49, iss 3
Deadenylases are best known for degrading the poly(A) tail during mRNA decay. The deadenylase family has expanded throughout evolution and, in mammals, consists of 12 Mg2+-dependent 3’ end ribonucleases with mostly unknown substrate specificity1. P
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91e93af0a10db11f22ffaa9743a63cb4
https://hdl.handle.net/1887/114885
https://hdl.handle.net/1887/114885
Autor:
Johannes C M, Schlachetzki, Thomas, Grimm, Zinayida, Schlachetzki, Nada M B, Ben Abdallah, Benjamin, Ettle, Patrizia, Vöhringer, Boris, Ferger, Beate, Winner, Silke, Nuber, Jürgen, Winkler
Publikováno v:
Journal of neuroscience research. 94(1)
Nonmotor symptoms of cognitive and affective nature are present in premotor and motor stages of Parkinson's disease (PD). Neurogenesis, the generation of new neurons, persists throughout the mammalian life span in the hippocampal dentate gyrus. Adult