Zobrazeno 1 - 10
of 63
pro vyhledávání: '"Austin Larson"'
Autor:
Lauren Thompson, Austin Larson, Lisa Salz, Regan Veith, John-Paul Tsai, Anuj Jayakar, Rachel Chapman, Apeksha Gupta, Stephen F. Kingsmore, David Dimmock, Alan Bedrick, Maureen Kelly Galindo, Kari Casas, Mohamed Mohamed, Lisa Straight, M. Akram Khan, Daria Salyakina
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
ObjectiveMulti-center implementation of rapid whole genome sequencing with assessment of the clinical utility of rapid whole genome sequencing (rWGS), including positive, negative and uncertain results, in admitted infants with a suspected genetic di
Externí odkaz:
https://doaj.org/article/d4247d3c615a40bd9f199dcdcda3c707
Autor:
Andrea DeBarber, Yaz Kisanuki, Paulo Nobrega, Ryan Himes, Suman Jayadev, John Bernat, Vikram Prakash, James Gibson, Austin Larson, Paulo Sgobbi, Edward Murphy, Brian Fedor, Cheryl Wong Po Foo, Rana Dutta, Michael Imperiale, Jolan Terner-Rosenthal, Will Garner, Pamela Vig, P. Barton Duell, Sarah Perez, Ritesh Ramdhani, Jonas Saute
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101039- (2024)
Externí odkaz:
https://doaj.org/article/42357f5775fb45ad9cbb1f099d5a0e41
Autor:
Robert Lewis, Makenzie Fulmer, Jian Zhao, Lucilla Pizzo, Ting Wen, John O'Shea, Thomas Nicholas, Steven Boyden, David Viskochil, Nicola Longo, Ashley Andrews, Erin Baldwin, Matt Velinder, Russell Butterfield, Karin Dent, Kourtney Santucci, Austin Larson, Rong Mao, Lorenzo Botto, Pinar Bayrak-Toydemir
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101470- (2024)
Externí odkaz:
https://doaj.org/article/ceab867783d74befb1ecce6c03ae6be5
Publikováno v:
JBMR Plus, Vol 7, Iss 11, Pp n/a-n/a (2023)
ABSTRACT Monogenic diabetes, including mitochondrial diabetes, constitutes 1% to 3% of all diabetes. Although there is an increased interest in understanding the mechanisms of bone fragility in people with diabetes, skeletal research is mostly focuse
Externí odkaz:
https://doaj.org/article/25617859392c40a3a89baf24a5adae68
Autor:
Jian Zhao, Nicola Longo, Robert Lewis, Thomas Nicholas, Steven Boyden, Ashley Andrews, Austin Larson, Pinar Bayrak-Toydemir, Lorenzo Botto, Rong Mao
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100642- (2023)
Externí odkaz:
https://doaj.org/article/db977fa7a7114434bf88d8f80c09760f
Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring
Autor:
Dóra Nagy, Sarah Verheyen, Kristen M. Wigby, Artem Borovikov, Artem Sharkov, Valerie Slegesky, Austin Larson, Christina Fagerberg, Charlotte Brasch-Andersen, Maria Kibæk, Ingrid Bader, Rebecca Hernan, Frances A. High, Wendy K. Chung, Jolanda H. Schieving, Jana Behunova, Mateja Smogavec, Franco Laccone, Martina Witsch-Baumgartner, Joachim Zobel, Hans-Christoph Duba, Denisa Weis
Publikováno v:
Genes, Vol 13, Iss 1, p 154 (2022)
POGZ-related disorders (also known as White-Sutton syndrome) encompass a wide range of neurocognitive abnormalities and other accompanying anomalies. Disease severity varies widely among POGZ patients and studies investigating genotype-phenotype asso
Externí odkaz:
https://doaj.org/article/91de0f7dcbc94b5e92b53eef973746f8
Autor:
Michael F Wangler, Claudia Gonzaga-Jauregui, Tomasz Gambin, Samantha Penney, Timothy Moss, Atul Chopra, Frank J Probst, Fan Xia, Yaping Yang, Steven Werlin, Ieva Eglite, Liene Kornejeva, Carlos A Bacino, Dustin Baldridge, Jeff Neul, Efrat Lev Lehman, Austin Larson, Joke Beuten, Donna M Muzny, Shalini Jhangiani, Baylor-Hopkins Center for Mendelian Genomics, Richard A Gibbs, James R Lupski, Arthur Beaudet
Publikováno v:
PLoS Genetics, Vol 10, Iss 3, p e1004258 (2014)
Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare disorder of enteric smooth muscle function affecting the intestine and bladder. Patients with this severe phenotype are dependent on total parenteral nutrition and urinary ca
Externí odkaz:
https://doaj.org/article/5e906b4e11814a4b99a07d1ad5eeb99e
Autor:
Kestutis C. Micke, Hannah M. Elfman, Katherine A. Fantauzzo, Patrick S. McGrath, David E. Clouthier, Shawn E. McCandless, Austin Larson, Manesha Putra, Bettina F. Cuneo, Regina M. Reynolds, Michael V. Zaretsky
Publikováno v:
Prenatal Diagnosis. 43:544-552
Autor:
Kristen Wigby, Monia Hammer, Mari Tokita, Priyanka Patel, Marilyn C. Jones, Austin Larson, Frances Velez Bartolomei, Natalie Dykzeul, Anne Slavotinek, Tiffany Yip, Sara Bandres‐Ciga, Brittany N. Simpson, Kristen Suhrie, Suma Shankar, Regan Veith, Jennifer Bragg, Cynthia Powell, Stephen F. Kingsmore, David Dimmock, Jill Maron, Jonathan Davis, Miguel Del Campo
Publikováno v:
American Journal of Medical Genetics Part A. 191:930-940
Autor:
Ricardo Moreno Traspas, Tze Shin Teoh, Pui-Mun Wong, Michael Maier, Crystal Y. Chia, Kenneth Lay, Nur Ain Ali, Austin Larson, Fuad Al Mutairi, Nouriya Abbas Al-Sannaa, Eissa Ali Faqeih, Majid Alfadhel, Huma Arshad Cheema, Juliette Dupont, Stéphane Bézieau, Bertrand Isidor, Dorrain Yanwen Low, Yulan Wang, Grace Tan, Poh San Lai, Hugues Piloquet, Madeleine Joubert, Hulya Kayserili, Kimberly A. Kripps, Shareef A. Nahas, Eric P. Wartchow, Mikako Warren, Gandham SriLakshmi Bhavani, Majed Dasouki, Renata Sandoval, Elisa Carvalho, Luiza Ramos, Gilda Porta, Bin Wu, Harsha Prasada Lashkari, Badr AlSaleem, Raeda M. BaAbbad, Anabela Natália Abreu Ferrão, Vasiliki Karageorgou, Natalia Ordonez-Herrera, Suliman Khan, Peter Bauer, Benjamin Cogne, Aida M. Bertoli-Avella, Marie Vincent, Katta Mohan Girisha, Bruno Reversade
Publikováno v:
Nature genetics. Nature Publishing Group
Cirrhosis is usually a late-onset and life-threatening disease characterized by fibrotic scarring and inflammation that disrupts liver architecture and function. While it is typically the result of alcoholism or hepatitis viral infection in adults, i