Zobrazeno 1 - 10
of 90
pro vyhledávání: '"Julia Wynn"'
Autor:
Norma P. Tavakoli, Dorota Gruber, Niki Armstrong, Wendy K. Chung, Breanne Maloney, Sunju Park, Julia Wynn, Carrie Koval‐Burt, Lorraine Verdade, David H. Tegay, Lilian L. Cohen, Natasha Shapiro, Annie Kennedy, Garey Noritz, Emma Ciafaloni, Barry Weinberger, Marty Ellington Jr, Charles Schleien, Regina Spinazzola, Sunil Sood, Amy Brower, Michele Lloyd‐Puryear, Michele Caggana, the Duchenne Muscular Dystrophy Pilot Study Group
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 10, Iss 8, Pp 1383-1396 (2023)
Abstract Objective Duchenne muscular dystrophy (DMD) is an X‐linked disorder resulting in progressive muscle weakness and atrophy, cardiomyopathy, and in late stages, cardiorespiratory impairment, and death. As treatments for DMD have expanded, a D
Externí odkaz:
https://doaj.org/article/d24ffc53f1be41f8a6922ad035a5e93e
Autor:
Brian Alford, Brian P. Landry, Sarah Hou, Xavier Bower, Anna M. Bueno, Drake Chen, Brooke Husic, David E. Cantonwine, Thomas F. McElrath, Jacqueline A. Carozza, Julia Wynn, Jennifer Hoskovec, Kathryn J. Gray
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-12 (2023)
Abstract We developed and validated a next generation sequencing-(NGS) based NIPT assay using quantitative counting template (QCT) technology to detect RhD, C, c, E, K (Kell), and Fya (Duffy) fetal antigen genotypes from maternal blood samples in the
Externí odkaz:
https://doaj.org/article/759953b9e9e446008cfae63bd160ae86
Autor:
Wendy Chung, Alban Ziegler, Carrie Koval-Burt, Denise Kay, Sharon Suchy, Amber Bergtrup, Katherine Langley, Laura Amendola, Brenna Boyd, Jennifer Bradley, Tracy Brandt, Lilian Cohen, Alison Coffey, Joseph Devaney, Beata Dygulska, Bethany Friedman, Ramsey Fuleihan, Awura Gyimah, Rebecca Hernan, Sean Hofherr, Kathleen Hruska, Zhanzhi Hu, Mederic Jeanne, Guanjun Jin, Aaron Johnson, Haluk Kavus, Rudolph Leibel, Kirsty McWalter, Kristin Monaghan, Nicole Pimentel Soler, Yeyson Quevedo, Samantha Ratner, Kyle Retterer, Natasha Shapiro, Robert Sicko, Samuel Storm, Rebecca Torene, Olatundun Williams, Julia Wynn, Ryan Taft, Paul Kruszka, Michele Caggana
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101369- (2024)
Externí odkaz:
https://doaj.org/article/77189ae45b2c491f99280943989bfb4f
Autor:
Salima El Chehadeh, Kyung Ah Han, Dongwook Kim, Gyubin Jang, Somayeh Bakhtiari, Dongseok Lim, Hee Young Kim, Jinhu Kim, Hyeonho Kim, Julia Wynn, Wendy K. Chung, Giuseppina Vitiello, Ioana Cutcutache, Matthew Page, Jozef Gecz, Kelly Harper, Ah-reum Han, Ho Min Kim, Marja Wessels, Allan Bayat, Alberto Fernández Jaén, Angelo Selicorni, Silvia Maitz, Arjan P. M. de Brouwer, Anneke Vulto-van Silfhout, Martin Armstrong, Joseph Symonds, Sébastien Küry, Bertrand Isidor, Benjamin Cogné, Mathilde Nizon, Claire Feger, Jean Muller, Erin Torti, Dorothy K. Grange, Marjolaine Willems, Michael C. Kruer, Jaewon Ko, Amélie Piton, Ji Won Um
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-19 (2022)
The protein SLITRK2 plays an important role in synaptic communication. This study identifies X-linked SLITRK2 variants that underlie neurodevelopmental disorders by impairing excitatory synapses.
Externí odkaz:
https://doaj.org/article/939b1e803648458f978aa0c525329996
Autor:
Michael J. Hartnett, Michele A. Lloyd-Puryear, Norma P. Tavakoli, Julia Wynn, Carrie L. Koval-Burt, Dorota Gruber, Tracy Trotter, Michele Caggana, Wendy K. Chung, Niki Armstrong, Amy M. Brower
Publikováno v:
International Journal of Neonatal Screening, Vol 8, Iss 4, p 50 (2022)
Advancements in therapies for Duchenne muscular dystrophy (DMD) have made diagnosis within the newborn period a high priority. We undertook a consortia approach to advance DMD newborn screening in the United States. This manuscript describes the form
Externí odkaz:
https://doaj.org/article/4a2711910fe24ca2994caa9ea442b689
Autor:
Julia Wynn, Norma P. Tavakoli, Niki Armstrong, Jacqueline Gomez, Carrie Koval, Christina Lai, Stephanie Tang, Andrea Quevedo Prince, Yeyson Quevedo, Katrina Rufino, Laura Palacio Morales, Angela Pena, Sharon Grossman, Mary Monfiletto, Erika Ruda, Vania Jimenez, Lorraine Verdade, Ashley Jones, Michelle G. Barriga, Nandanee Karan, Alexandria Puma, Safa Sarker, Sarah Chin, Kelly Duarte, David H. Tegay, Irzaud Bacchus, Rajani Julooru, Breanne Maloney, Sunju Park, Akilan M. Saami, Lilian Cohen, Natasha Shapiro, Michele Caggana, Wendy K. Chung, Dorota Gruber
Publikováno v:
International Journal of Neonatal Screening, Vol 8, Iss 2, p 23 (2022)
Seven months after the launch of a pilot study to screen newborns for Duchenne Muscular Dystrophy (DMD) in New York State, New York City became an epicenter of the coronavirus disease 2019 (COVID-19) pandemic. All in-person research activities were s
Externí odkaz:
https://doaj.org/article/0226da8509424f328fd29ddc188fc586
Autor:
Eric L. Bogenschutz, Zac D. Fox, Andrew Farrell, Julia Wynn, Barry Moore, Lan Yu, Gudrun Aspelund, Gabor Marth, Mark Yandell, Yufeng Shen, Wendy K. Chung, Gabrielle Kardon
Publikováno v:
HGG Advances, Vol 1, Iss 1, Pp 100008- (2020)
Summary: The diaphragm is critical for respiration and separation of the thoracic and abdominal cavities, and defects in diaphragm development are the cause of congenital diaphragmatic hernias (CDH), a common and often lethal birth defect. The geneti
Externí odkaz:
https://doaj.org/article/cabc2287b41e45d0ab18d9f3142051fd
Autor:
Julia Wynn, Katie Lewis, Laura M. Amendola, Barbara A. Bernhardt, Sawona Biswas, Manasi Joshi, Carmit McMullen, Sarah Scollon
Publikováno v:
BMC Medical Genomics, Vol 11, Iss 1, Pp 1-13 (2018)
Abstract Background Current medical practice includes the application of genomic sequencing (GS) in clinical and research settings. Despite expanded use of this technology, the process of disclosure of genomic results to patients and research partici
Externí odkaz:
https://doaj.org/article/6145cb087462430a8118a3fd80c52bd1
Autor:
Gabrielle Kardon, Kate G. Ackerman, David J. McCulley, Yufeng Shen, Julia Wynn, Linshan Shang, Eric Bogenschutz, Xin Sun, Wendy K. Chung
Publikováno v:
Disease Models & Mechanisms, Vol 10, Iss 8, Pp 955-970 (2017)
Congenital diaphragmatic hernias (CDHs) and structural anomalies of the diaphragm are a common class of congenital birth defects that are associated with significant morbidity and mortality due to associated pulmonary hypoplasia, pulmonary hypertensi
Externí odkaz:
https://doaj.org/article/901141c9574e40c49a93391a1c8d726a
Autor:
Hongjian Qi, Lan Yu, Xueya Zhou, Julia Wynn, Haoquan Zhao, Yicheng Guo, Na Zhu, Alexander Kitaygorodsky, Rebecca Hernan, Gudrun Aspelund, Foong-Yen Lim, Timothy Crombleholme, Robert Cusick, Kenneth Azarow, Melissa E Danko, Dai Chung, Brad W Warner, George B Mychaliska, Douglas Potoka, Amy J Wagner, Mahmoud ElFiky, Jay M Wilson, Debbie Nickerson, Michael Bamshad, Frances A High, Mauro Longoni, Patricia K Donahoe, Wendy K Chung, Yufeng Shen
Publikováno v:
PLoS Genetics, Vol 14, Iss 12, p e1007822 (2018)
Congenital diaphragmatic hernia (CDH) is a severe birth defect that is often accompanied by other congenital anomalies. Previous exome sequencing studies for CDH have supported a role of de novo damaging variants but did not identify any recurrently
Externí odkaz:
https://doaj.org/article/5ee7f177ac4c4fcaa1154d035c69c6ac