Zobrazeno 1 - 10
of 347
pro vyhledávání: '"Rosanna, Weksberg"'
Autor:
Isabella Lin, Zain Awamleh, Mili Sinvhal, Andrew Wan, Leroy Bondhus, Angela Wei, Bianca E. Russell, Rosanna Weksberg, Valerie A. Arboleda
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-20 (2024)
Abstract Background Rare variants in epigenes (a.k.a. chromatin modifiers), a class of genes that control epigenetic regulation, are commonly identified in both pediatric neurodevelopmental syndromes and as somatic variants in cancer. However, little
Externí odkaz:
https://doaj.org/article/57ea2037be6443a296d96f03c4847823
Autor:
Jil D. Stegmann, Jeshurun C. Kalanithy, Gabriel C. Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M. Lopes, Yee Mang Ho, Phillip Grote, Tobias T. Lindenberg, Öznur Yilmaz, Khadija Channab, Steve Seltzsam, Shirlee Shril, Friedhelm Hildebrandt, Felix Boschann, André Heinen, Angad Jolly, Katherine Myers, Kim McBride, Mir Reza Bekheirnia, Nasim Bekheirnia, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Annalaura Torella, TUDP consortium, Michele Pinelli, Valeria Capra, Andrea Accogli, Silvia Maitz, Alice Spano, Rory J. Olson, Eric W. Klee, Brendan C. Lanpher, Se Song Jang, Jong-Hee Chae, Philipp Steinbauer, Dietmar Rieder, Andreas R. Janecke, Julia Vodopiutz, Ida Vogel, Jenny Blechingberg, Jennifer L. Cohen, Kacie Riley, Victoria Klee, Laurence E. Walsh, Matthias Begemann, Miriam Elbracht, Thomas Eggermann, Arzu Stoppe, Kyra Stuurman, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Maureen S. Mulhern, Tristan T. Sands, Cheryl Cytrynbaum, Rosanna Weksberg, Federica Isidori, Tommaso Pippucci, Giulia Severi, Francesca Montanari, Michael C. Kruer, Somayeh Bakhtiari, Hossein Darvish, Heiko Reutter, Gregor Hagelueken, Matthias Geyer, Adrian S. Woolf, Jennifer E. Posey, James R. Lupski, Benjamin Odermatt, Alina C. Hilger
Publikováno v:
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-12 (2024)
Abstract CELSR3 codes for a planar cell polarity protein. We describe twelve affected individuals from eleven independent families with bi-allelic variants in CELSR3. Affected individuals presented with an overlapping phenotypic spectrum comprising c
Externí odkaz:
https://doaj.org/article/70ae196c8ca74a8b9e9771ee7476f1a8
Autor:
Sarah Jessica Goodman, Teresa Romeo Luperchio, Jacob Ellegood, Eric Chater-Diehl, Jason P. Lerch, Hans Tomas Bjornsson, Rosanna Weksberg
Publikováno v:
Clinical Epigenetics, Vol 15, Iss 1, Pp 1-13 (2023)
Abstract Background Recent findings from studies of mouse models of Mendelian disorders of epigenetic machinery strongly support the potential for postnatal therapies to improve neurobehavioral and cognitive deficits. As several of these therapies mo
Externí odkaz:
https://doaj.org/article/924b70ecb8c540bd972e3b4feab6e70d
Autor:
Manqi Liang, Beena Suresh, Eric Bareke, Sanaa Choufani, Sujatha Jagadeesh, Rosanna Weksberg, Jacek Majewski, Rima Slim
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 2, Pp n/a-n/a (2024)
Abstract Background Recurrent miscarriage (RM) affects 1% to 5% of couples trying to conceive. Despite extensive clinical and laboratory testing, half of the RM cases remain unexplained. We report the genetic analysis of a couple with eight miscarria
Externí odkaz:
https://doaj.org/article/5643f311622043daa83507010d712958
Autor:
Bailey Gallinger, Yoshiko Nakano, Kimberly Caswell, Harriet Drucker, Alexandria Mansfield, Jonathan Wasserman, Rosanna Weksberg, Rosemarie Venier, Yiming Wang, David Malkin, Anita Villani
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 100962- (2024)
Externí odkaz:
https://doaj.org/article/dee9a0e8e2c1455d85be2b4688cc2d7a
Autor:
Bianca Russell, Julia Sloan, Hiroki Nariai, Natasha Ludwig, Abigail Dickinson, Zain Awamleh, Rosanna Weksberg, Isabella Lin, Valerie Arboleda, Wen-Hann Tan
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101089- (2024)
Externí odkaz:
https://doaj.org/article/1da6445c0a7b409ab2ee5628e18d2984
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101263- (2024)
Externí odkaz:
https://doaj.org/article/d39f73cb10f74ede958d23e49197aa5f
Autor:
Zain Awamleh, Sanaa Choufani, Dmitrijs Rots, Alexander Dingemans, Juan Dario Ortigoza Escobar, David Koolen, Bert de Vries, Rosanna Weksberg
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101543- (2024)
Externí odkaz:
https://doaj.org/article/3bc851880b414d4c8ea1fd8bd3963197
Autor:
Sanaa Choufani, Rosanna Weksberg
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101748- (2024)
Externí odkaz:
https://doaj.org/article/09436d735cb8467893e8eee12fffd2e6
Autor:
Shane Cleary, Grace Teskey, Craig Mathews, Russell J. Sachachar, Robert Nicolson, Rosanna Weksberg, Evdokia Anagnostou, Dawn M. E. Bowdish, Jane A. Foster
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-8 (2023)
Abstract Multisite collection and preservation of peripheral blood mononuclear cells (PBMCs) for centralized analysis is an indispensable strategy for large cohort immune phenotyping studies. However, the absence of cross-site standardized protocols
Externí odkaz:
https://doaj.org/article/11b8746c5b784348bd2cfd6a36e6a0cf