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Safety findings from the phase 1/2 MOSAIC study of miransertib for patients with PIK3CA-related overgrowth spectrum or Proteus syndrome by Whitney Eng, Ionela Iacobas, Jonathan Perkins, Giuseppe Zampino, Chiara Leoni, Paola Sabrina Buonuomo, Alessandra Simonetti, Himanshu Goel, Michael Briones, Mo Huang, Gregory Goldmacher, Danny Liaw, Adrienne Hammill
Published 2025-07-01Get full text
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O32: ANKRD17-related neurodevelopmental syndrome (Chopra-Amiel-Gordon syndrome): Further characterization and emerging genotype-phenotype correlations by Muhammed Cagri Bayraktutan, Abigail Sveden, Raymond Belanger, Ellen Hanson, Jack Murray, Edward Yang, Jada Cameron, Elizabeth Buttermore, Dustin Gable, Kellen Winden, Celia Tam, Vikram Prakash, Laura Trujillano, Himanshu Goel, Charlotte von der Lippe, Amelle Shillington, Yvan Herenger, Britton Zuccarelli, Linda Rosetti, Kendra Engleman, Tinatin Tkemaladze, Robert Maiwald, Amaia Lasa Aranzasti, Christopher Barnett, Marco Tartaglia, Seema Lalani, Wen-Hann Tan, Jeanne Amiel, Christopher Gordon, Mustafa Sahin, Maya Chopra
Published 2025-01-01Get full text
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P321: Identifying new genotype/phenotype correlations for individuals carrying deleterious RERE variants by David Curtis, Daryl Scott, Seema Lalani, Mahshid Azamian, Kierstin Keller, Alanna Strong, Joseph Shen, Colette DeFilippo, Himanshu Goel, Betsy Schmalz, Bimal Chaudhari, Shelagh Joss, Muge Gucsavas-Calikoglu, Yael Shiloh-Malawsky, Yezmin Perilla-Young, Olivia Thompson, Neena Champaigne, Luigi Chiratti, Marco Ferilli, Marco Tartaglia, Manuela Priolo, Radio Clementina, Christelle Achkar, Koen Gassen, Marie-José van den Boogard, Tony Roscioli, Kim McBride, Julie Lauzon, Hannes Syryn, Martine Cools, Elfride De Baere, Victor Faundes, Gabriela Repetto, Sarah Josephi-Taylor, Adam Bournazos, Sandra Cooper, Nichole Owen, Xiaonan Zhao
Published 2025-01-01Get full text
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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
Published 2025-01-01Get full text
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