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Rapid genomic testing in critically ill pediatric patients: Genetic counseling lessons from a national program by Kirsten Boggs, Fiona Lynch, Michelle Ward, Sophie E. Bouffler, Samantha Ayres, Robin Forbes, Amanda Springer, Michelle G. de Silva, Elly Lynch, Lyndon Gallacher, Tenielle Davis, Ana Rakonjac, Kirsty Stallard, Gemma R. Brett, Zornitza Stark
Published 2024-01-01Get full text
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Genetic counseling workforce diversity, inclusion, and capacity in Australia and New Zealand by Anaita Kanga-Parabia, Lucas Mitchell, Renee Smyth, Trisha Kapoor, Jaitika Duggal, Amy Pearn, Rachel Williams, Eliza Courtney, Emma Edwards, Michelle Bowman, Mithila Belekar, Clara Gaff, Amy Nisselle, Amy Nisselle, Amy Pearn, Anaita Kanga-Parabia, Ben Lundie, Claire Wong, N.S.W. Health, Clara Gaff, Australian Genomics, Helen Mountain, Jaitika Duggal, Jason Pinner, Lauren Hunt, Lyndon Gallacher, Rachel Williams, Sebastian Lunke, Yemima Burman, Alex Blackwell, Ana Rakonjac, Anaita Kanga-Parabia, Eliza Courtney, Emma Edwards, Emma Harrison, Janette Hayward, Lucas Mitchell, Lyndon Gallacher, Michelle Bowman, Michelle Cao, Mithila Belekar, Rachel Williams, Renee Smyth, Saraya Hogan, Trisha Kapoor
Published 2024-01-01Get full text
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Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases by Sarah L. Stenton, Kristen Laricchia, Nicole J. Lake, Sushma Chaluvadi, Vijay Ganesh, Stephanie DiTroia, Ikeoluwa Osei-Owusu, Lynn Pais, Emily O’Heir, Christina Austin-Tse, Melanie O’Leary, Mayada Abu Shanap, Chelsea Barrows, Seth Berger, Carsten G. Bönnemann, Kinga M. Bujakowska, Dean R. Campagna, Alison G. Compton, Sandra Donkervoort, Mark D. Fleming, Lyndon Gallacher, Joseph G. Gleeson, Goknur Haliloglu, Eric A. Pierce, Emily M. Place, Vijay G. Sankaran, Akiko Shimamura, Zornitza Stark, Tiong Yang Tan, David R. Thorburn, Susan M. White, Maha S. Zaki, Eric Vilain, Monkol Lek, Heidi L. Rehm, Anne O’Donnell-Luria
Published 2025-07-01Get full text
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