Therapeutics in paediatric genetic diseases: current and future landscape by Ai Ling Koh, Saumya Shekhar Jamuar

Get full text

P008: A first in human, single arm, open label phase 1/2 study evaluating ECUR-506 in neonatal OTC Deficiency: Initial Observations by Julien Baruteau, Gabriel Cohn, Anil Dhawan, Anupam Chakrapani, Stephanie Grunewald, Molly Abbott, Helen Ashton, Sophie Foxall, Ai Ling Koh, Christos Lazaridis, Havea Navarro-Kennedy, Hamza Patel, Siyamini Sivananthan, Eleni Tamvaki, Katy Vecchiato, Matthew Hall, Karen Kuhn, Thomas White, Barbara Pinho, George Diaz

Get full text

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships by Eleanor C. Broeren, Vanessa N. Gitau, Alicia B. Byrne, Pamela Ajuyah, Marie B. Balzotti, Jonathan S. Berg, Krista Bluske, B. Monica Bowen, Matthew P. Brown, Amanda Buchanan, Brendan T. Burns, Nicole J. Burns, Anjana Chandrasekhar, Aditi Chawla, Jessica X. Chong, Maya Chopra, Amanda R. Clause, Marina T. DiStefano, Stephanie DiTroia, Marwa A. Elnagheeb, Amanda N. Girod, Himanshu Goel, Katie L. Golden-Grant, Thuong Ha, Ada Hamosh, Jennifer M. Huang, Madeline Y. Hughes, Saumya S. Jamuar, Sylvia Kam, Akanchha Kesari, Ai Ling Koh, Rhonda N.T. Lassiter, Sarah E. Leigh, Gabrielle Lemire, Jiin Ying Lim, Alka Malhotra, Hannah R. McCurry, Becky Milewski, Shahida Moosa, Stephen A. Murray, Emma H. Owens, Elizabeth E. Palmer, Brooke C. Palus, Mayher J. Patel, Revathi Rajkumar, Julie C. Ratliff, F. Lucy Raymond, Bruno Della Ripa Rodrigues Assis, Samin A. Sajan, Zinayida Schlachetzki, Sarah A. Schmidt, Zornitza Stark, Samuel P. Strom, Julie P. Taylor, Courtney Thaxton, Devon L. Thrush, Sabrina Toro, Kezang C. Tshering, Nicole A. Vasilevsky, Bess Wayburn, Ryan F. Webb, Anne O’Donnell-Luria, Alison J. Coffey

Get full text