Data-driven consideration of genetic disorders for global genomic newborn screening programs

作者：Thomas Minten, Sarah K. Bick, Sophia Adelson, Nils Gehlenborg, Laura M. Amendola, François Boemer, Alison J. Coffey, Nicolas Encina, Alessandra Ferlini, Janbernd Kirschner, Bianca Russell, Laurent Servais, Kristen L. Sund, Ryan J. Taft, Petros Tsipouras, Hana Zouk, Aldona Zygmunt, Athina Ververi, Carol Wai-Kwan Siu, Emanuela Ponzi, Enrico Bertini, Huang Xin-wen, Jovanka King, Karin Kassahn, Maria Koutsogianni, Marialuisa Valente, Matthew J. Pelo, Mattia Gentile, Paola Orsini, Romina Ficarella, Stefaan Sansen, Rui Xiao, Zhao Zhengyan, David Bick, Aaron J. Goldenberg, Aditi Satija, Alberte Lundquist, Alessandra Ferlini, Alexandra Wiedemann, Alice Tuff-Lacey, Aljazi Al-Maraghi, Amanda Pichini, Ammira Al‐Shabeeb Akil, Amy Brower, Amy Gaviglio, Amy Ponte, Andrea M. Oza, Andreas Pösch, Andrew J. Barry, Andy Rohrwasser, Ankit Malhotra, Anna Lewis, Anna Wedell, Annelotte Duintjer, Annette Grueters, Antonio Novelli, Arindam Bhatatcharjee, Arwa Y. Nusair, Asaf Bitton, Asbjørg Stray‐Pedersen, Audrey Thurm, Aymeric Harmant, Becca Hernan, Beom Hee Lee, Bethany Zettler, Brenna Boyd, Brian Y. Chung, Brian Kirmse, Brooke Greenstein, Bruce Bennetts, Bryn D. Webb, Bugrahan Duz, Caleb Bupp, Camille Level, Candance Cameron, Carol Wai-Kwan Siu, Carolyn Philstrom, Cassie Goldman, Celine Lewis, Charlotte V. Hobbs, Christian P. Schaaf, Christopher Greene, Ciara Leckie, Cindy H. Wu, Clare Kingsley, Cora Vacher, Cynthia M. Powell, Dalia Kasperavičiūtė, Daniel J. Gottlieb, Daniel Uribe, Dau-Ming Niu, David Bick, David J. Eckstein, David E. Godler, D.H. Ledbetter, Derek Ansel, Dhayo Khangsar, Diana Carli, Dimitrios Thanos, Dominique C. Pichard, Donald B. Bailey, Donna Bernstein, Earnest James Paul Daniel, Elizabeth Vengoechea, Elizaveta Krupoderova, Els Voorhoeve, Emanuele Agolini, Emeline Davoine, Emmanuelle Lecommandeur, Erin Drake, Eva Van Steijvoort, F. Sessions Cole, Fiona Ulph, Fowzan S. Alkuraya, François Boemer, Geethanjali Devadoss Gandhi, G. Brown, George Bowley, George Sahyoun, Georgia Charalambidou, Gert Matthijs, Guanjun Jin, Gulcin Gumus, Hadley Stevens Smith, Harriet Etheredge, Heather Turner, Heidi Cope, Heiko Brennenstuhl, Holly L. Peay, Holly Pickering, Inès Kander, Ingrid A. Holm, Irakli Rtskhiladze, James Buchanan, Jamie Galarza-Cornejo, Jelili Ojodu, Jennifer Schleit, Jessica L. Giordano, J. Lawrence Merritt, J. L. Chance, Joanna Ziff, Jonathan H. Berg, Jorune Balciuniene, José Manuel González de Aledo‐Castillo, Joseph P. Dewulf, Jovanka King, Judit García‐Villoria, Julie Yeo, Justin M. O’Sullivan, Karin Kassahn, Karla Alex, Katarzyna A. Ellsworth, Katarzyna A. Mosiewicz, Kate MacDuffie, Katherine G. Langley, Katie Golden‐Grant, Katrin Eivindardottir Danielsen, Katrina Paleologos, Katya Broomberg, Kee Chan, Kelly D. Farwell Hagman, Kelsey Kalbfleisch, Ken Irvine, Kevin P. Hall, Kris Van Den Bogaert, Kristen L. Sund, Laura V. Milko, Lauren Capacchione, Lauren Scully, Laurence Faivre, Laurent Servais, Layla Horwitz, Lene Rottensten, Leni Kauko, Liana Protopsaltis, Lidewij Henneman, Lilian Downie, Lionel Marcélis, Lisa Diller, Lisa Sniderman King, Liz Gardner, Louise Metherell, Lourdes St George, Lucy Kaplun, Madhuri Hegde, Maija Siitonen, Mairead Bresnahan, Malgorzata Ponikowska, Maria Iascone, Maria Martínez-Fresno, Marianna Raia, Martijn E.T. Dollé, Martin Vu, Matthew Aujla, Matthew Ellinwood, Matthew Pelo, Mattia Gentile, Mauro Longoni, Meekai To, Megan Clarke, Mei Baker, Melissa Berenger, Melissa Wasserstein, Meredith S. Wright, Mette Nyegaard, Michael H. Gelb, Michael S. Watson, Michela Zuccolo, Michelle Pirreca, Minna Niemelä, Mirjam van der Burg, Monica Ferrie, Munira Alshehri, Nabihah Sachedina, Nancy Yin-Hsiu Chien, Nanna Balle Mikkelsen, Natasha Bonhomme, Neal Sondheimer, Nicolas Encina, Nicole R. Kelly, Nicole L. Miller, Nidhi Shah, Niki Armstrong, Nina B. Gold, Nina Gold, Onassis Castillo Ceballo, Pakhi Dixit, Pamela Lee, Paola Orsini, Paris Tafas, Paul Kruszka, Paul Rollier, Petra Furu, Petros Tsipouras, Philip Twiss, Philip J. Brooks, Polakit Teekakirikul, Rachel Herndon Klein, Radja Badji, Rebecca Heiner‐Fokkema, Rebecca Reimers, Rebekah Zimmerman, Richard B. Parad, Richard Scott, Riina Kaukonen, Robert Green, Robert D. Steiner, Roberts Melbardis, Robin Z. Hayeems, Rose Heald, Ruby Liu, Sally Hartmanis, Sarah H. Elsea, Sarah Norris, Scott D. Grosse, Sebastian Lunke, Shamila Yusuff, Siân Morgan, Sikha Singh, Sophia Adelson, Stacey Seeloff, Stefan Koelker, Stephanie A. Coury, Stephen F. Kingsmore, Steven E. Brenner, Sucheta Bhatt, Sukhvinder Nicklen, Susan Clasper, Suzanne Drury, Tamara Dangouloff, Terri H. Finkel, Thomas Brewster, Thomas Minten, Thomas Westover, Tiina K. Urv, Tom Defay, Tomasz Żemojtel, Tony Cox, Tracey Bishop, Ulrich Glümer Jensen, Ulrik Kristoffer Stoltze, Ulrike Mütze, Winnie Chen, Winnie Chen, Gao Ya, Yeyson Quevedo, Yiota Veloudi, Youssef A. Kousa, Yun‐Ru Chen, Zhanzhi Hu, Zornitza Stark, Robert C. Green, Nina B. Gold, Nina B. Gold · 发表于：Genetics in Medicine · 年份：2025 · DOI：10.1016/j.gim.2025.101443 · 被引用次数：43 · 研究领域：Genomics and Rare Diseases、BRCA gene mutations in cancer、Metabolism and Genetic Disorders