Resultados de procura - Lyndon Gallacher

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  1. 1
    Genetic counseling workforce diversity, inclusion, and capacity in Australia and New Zealand

    Genetic counseling workforce diversity, inclusion, and capacity in Australia and New Zealand por Anaita Kanga‐Parabia, Lucas Mitchell, Renee Smyth, Trisha Kapoor, Jaitika Duggal, Amy Pearn, Rachel Williams, Eliza Courtney, Emma Edwards, Michelle W. Bowman, Mithila Belekar, 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 J. 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 W. Bowman, Michelle Cao, Mithila Belekar, Rachel Williams, Renee Smyth, Saraya Hogan, Trisha Kapoor, Clara Gaff, Amy Nisselle

    Publicado 2024
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  2. 2
    Parental experiences of ultrarapid genomic testing for their critically unwell infants and children

    Parental experiences of ultrarapid genomic testing for their critically unwell infants and children por Gemma R. Brett, Melissa Martyn, Fiona Lynch, M. De Silva, Samantha Ayres, Lyndon Gallacher, Kirsten Boggs, Anne Baxendale, Sarah Schenscher, Sarah L. King‐Smith, Lindsay Fowles, Amanda Springer, Sebastian Lunke, Anand Vasudevan, Emma Krzesinski, Jason Pinner, Sarah A. Sandaradura, Christopher Barnett, Chirag Patel, Meredith Wilson, Zornitza Stark

    Publicado 2020
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  3. 3
    Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases

    Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases por Sarah L. Stenton, Kristen M. 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, Göknur Haliloğlu, Eric A. Pierce, Emily Place, Vijay G. Sankaran, Akiko Shimamura, Zornitza Stark, Tiong Yang Tan, David R. Thorburn, Susan M. White, Maha S. Zaki, Éric Vilain, Monkol Lek, Heidi L. Rehm, Anne O’Donnell‐Luria

    Publicado 2025
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  4. 4
    Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System

    Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System por Sebastian Lunke, Stefanie Eggers, Meredith Wilson, Chirag Patel, Christopher Barnett, Jason Pinner, Sarah A. Sandaradura, Michael F. Buckley, Emma Krzesinski, M. De Silva, Gemma R. Brett, Kirsten Boggs, David Mowat, Edwin P. Kirk, Lesley C. Adès, Lauren Akesson, David J. Amor, Samantha Ayres, Anne Baxendale, Sarah Borrie, Alessandra Bray, Natasha J. Brown, Cheng Yee Chan, Belinda Chong, Corrina Cliffe, Martin B. Delatycki, Matthew Edwards, George Elakis, Michael Fahey, Andrew Fennell, Lindsay Fowles, Lyndon Gallacher, Megan Higgins, Katherine B. Howell, L. Hunt, Matthew F. Hunter, Kristi Jones, Sarah King, Smitha Kumble, Sarah Lang, Maelle Le Moing, Alan Ma, Dean Phelan, Michael C. Quinn, A. Mark Richards, Christopher M. Richmond, Jessica R. Riseley, Jonathan Rodgers, Rani Sachdev, Simon Sadedin, Luregn J. Schlapbach, Janine Smith, Amanda Springer, Natalie B. Tan, Tiong Yang Tan, Suzanna L. Temple, Christiane Theda, Anand Vasudevan, Susan M. White, Alison Yeung, Ying Zhu, Melissa Martyn, Stephanie Best, Tony Roscioli, John Christodoulou, Zornitza Stark

    Publicado 2020
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  5. 5
    Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease

    Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease por Gabrielle Lemire, Alba Sanchis‐Juan, Kathryn Russell, Samantha Baxter, Katherine R. Chao, Moriel Singer‐Berk, Emily Groopman, Isaac Wong, Eleina England, Julia K. Goodrich, Lynn Pais, Christina Austin‐Tse, Stephanie DiTroia, Emily O’Heir, Vijay Ganesh, Monica H. Wojcik, Emily Evangelista, Hana Snow, Ikeoluwa Osei‐Owusu, Jack Fu, Mugdha Singh, Yulia Mostovoy, Steve S. Huang, Kiran Garimella, Samantha L. Kirkham, Jennifer E. Neil, Diane D. Shao, Christopher A. Walsh, Emanuela Argilli, Carolyn Le, Elliott H. Sherr, Joseph G. Gleeson, Shirlee Shril, Ronen Schneider, Friedhelm Hildebrandt, Vijay G. Sankaran, Jill A. Madden, Casie A. Genetti, Alan H. Beggs, Pankaj B. Agrawal, Kinga M. Bujakowska, Emily Place, Eric A. Pierce, Sandra Donkervoort, Carsten G. Bönnemann, Lyndon Gallacher, Zornitza Stark, Tiong Yang Tan, Susan M. White, Ana Töpf, Volker Straub, Mark D. Fleming, Martin R. Pollak, Katrin Õunap, Sander Pajusalu, Kirsten A. Donald, Zandrè Bruwer, Gianina Ravenscroft, Nigel G. Laing, Daniel G. MacArthur, Heidi L. Rehm, Michael E. Talkowski, Harrison Brand, Anne O’Donnell‐Luria

    Publicado 2024
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  6. 6
    SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

    SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females por Francesca Clementina Radio, Kaifang Pang, Andrea Ciolfi, Michael A. Levy, Andrés Hernández, Lucia Pedace, Francesca Pantaleoni, Zhandong Liu, Elke de Boer, Adam Jackson, Alessandro Bruselles, Haley McConkey, Emilia Stellacci, Stefania Lo Cicero, Marialetizia Motta, Rosalba Carrozzo, Maria Lisa Dentici, Kirsty McWalter, Megha Desai, Kristin G. Monaghan, Aida Telegrafi, Christophe Philippe, Antonio Vitobello, Margaret Au, Katheryn Grand, Pedro A. Sanchez‐Lara, Joanne Baez, Kristin Lindstrom, Peggy Kulch, Jessica Sebastian, Suneeta Madan‐Khetarpal, Chelsea Roadhouse, Jennifer MacKenzie, Berrin Monteleone, Carol J. Saunders, July K. Jean Cuevas, Laura Cross, Dihong Zhou, Taila Hartley, Sarah L. Sawyer, Fabíola Paoli Monteiro, Tania Vertemati Secches, Fernando Kok, Laura Schultz‐Rogers, Erica L. Macke, Éva Morava, Eric W. Klee, Jennifer L. Kemppainen, Maria Iascone, Angelo Selicorni, Romano Tenconi, David J. Amor, Lynn Pais, Lyndon Gallacher, Peter D. Turnpenny, Karen Stals, Sian Ellard, Sara Cabet, Gaëtan Lesca, Pascal Joset, Katharina Steindl, Sarit Ravid, Karin Weiss, Alison M. R. Castle, Melissa T. Carter, Louisa Kalsner, Bert B.A. de Vries, Bregje W.M. van Bon, Marijke R. Wevers, Rolph Pfundt, Alexander P.A. Stegmann, Bronwyn Kerr, Helen Kingston, Kate Chandler, Willow Sheehan, Abdallah F. Elias, Deepali N. Shinde, Meghan C. Towne, Nathaniel H. Robin, Dana H. Goodloe, Adeline Vanderver, Omar Sherbini, Krista Bluske, R. Tanner Hagelstrom, Caterina Zanus, Flavio Faletra, Luciana Musante, Evangeline C. Kurtz‐Nelson, Rachel K. Earl, Britt‐Marie Anderlid, Gilles Morin, Marjon van Slegtenhorst, Karin E. M. Diderich, Alice S. Brooks, Joost Gribnau, Ruben Boers, Teresa Robert-Finestra, Lauren B. Carter, Anita Rauch, Paolo Gasparini

    Publicado 2021
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  7. 7
    <i>De novo</i>variants in the non-coding spliceosomal snRNA gene<i>RNU4-2</i>are a frequent cause of syndromic neurodevelopmental disorders

    <i>De novo</i>variants in the non-coding spliceosomal snRNA gene<i>RNU4-2</i>are a frequent cause of syndromic neurodevelopmental disorders por Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Sarah L. Stenton, Susan Walker, Alicia Ljungdahl, Jenny Lord, Vijay S Ganesh, Jialan Ma, Alexandra C Martin-Geary, Gabrielle Lemire, Elston N. D’Souza, Shan Dong, Jamie M. Ellingford, David R. Adams, Kirsten Allan, Madhura Bakshi, Erin E. Baldwin, Seth Berger, Jonathan A. Bernstein, Natasha J. Brown, Lindsay C. Burrage, Kimberly A. Chapman, Alison G. Compton, Chloe A Cunningham, Precilla D’Souza, Emmanuèle C. Délot, Kerith‐Rae Dias, Ellen Roy Elias, Carey‐Anne Evans, Lisa Ewans, Kimberly Ezell, Jamie L. Fraser, Lyndon Gallacher, Casie A. Genetti, Christina Grant, Tobias B. Haack, Alma Kuechler, Seema R. Lalani, Elsa Leitão, Anna Le Fevre, Richard J. Leventer, Jan Liebelt, Paul J. Lockhart, Alan Ma, Ellen F. Macnamara, T. Maurer, Rodrigo Mendez, Stephen B. Montgomery, Marie‐Cécile Nassogne, Serena Neumann, Melanie O’Leary, Elizabeth E. Palmer, John A. Phillips, Georgia Pitsava, Ryan Pysar, Heidi L. Rehm, Chloe M. Reuter, Nicole Revençu, Angelika Rieß, Rocío Rius, Lance H. Rodan, Tony Roscioli, Jill A. Rosenfeld, Rani Sachdev, Cas Simons, Sanjay M. Sisodiya, Penny Snell, Laura St Clair, Zornitza Stark, Tiong Yang Tan, Natalie B. Tan, Suzanna E.L. Temple, David R. Thorburn, Cynthia J. Tifft, Eloise Uebergang, Grace E. VanNoy, Éric Vilain, David Viskochil, Laura Wedd, Matthew T. Wheeler, Susan M. White, Monica H. Wojcik, Lynne A. Wolfe, Zoe Wolfenson, Changrui Xiao, David Zocche, John L.R. Rubenstein, Eirene Markenscoff-Papadimitriou, Sebastian M. Fica, Diana Baralle, Christel Depienne, Daniel G. MacArthur, Joanna M. M. Howson, Stephan Sanders, Anne O’Donnell‐Luria, Nicola Whiffin

    Publicado 2024
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  8. 8
    De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

    De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome por Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Alicia Ljungdahl, Sarah L. Stenton, Susan Walker, Jenny Lord, Gabrielle Lemire, Alexandra C Martin-Geary, Vijay S Ganesh, Jialan Ma, Jamie M. Ellingford, Erwan Delage, Elston N. D’Souza, Shan Dong, David R. Adams, Kirsten Allan, Madhura Bakshi, Erin E. Baldwin, Seth Berger, Jonathan A. Bernstein, Ishita Bhatnagar, Ed Blair, Natasha J. Brown, Lindsay C. Burrage, Kimberly A. Chapman, David Coman, Alison G. Compton, Chloe A Cunningham, Precilla D’Souza, Petr Danecek, Emmanuèle C. Délot, Kerith‐Rae Dias, Ellen Roy Elias, Frances Elmslie, Care-Anne Evans, Lisa Ewans, Kimberly Ezell, Jamie L. Fraser, Lyndon Gallacher, Casie A. Genetti, Anne Goriely, Christina Grant, Tobias B. Haack, Jenny Higgs, Anjali Gupta Hinch, Matthew E. Hurles, Alma Kuechler, Katherine Lachlan, Seema R. Lalani, François Lecoquierre, Elsa Leitão, Anna Le Fevre, Richard J. Leventer, Jan Liebelt, Sarah Lindsay, Paul J. Lockhart, Alan Ma, Ellen F. Macnamara, Sahar Mansour, T. Maurer, Rodrigo Mendez, Kay Metcalfe, Stephen B. Montgomery, Mariya Moosajee, Marie‐Cécile Nassogne, Serena Neumann, Michael O’Donoghue, Melanie O’Leary, Elizabeth E. Palmer, Nikhil Pattani, John Phillips, Georgia Pitsava, Ryan Pysar, Heidi L. Rehm, Chloe M. Reuter, Nicole Revençu, Angelika Rieß, Rocío Rius, Lance H. Rodan, Tony Roscioli, Jill A. Rosenfeld, Rani Sachdev, Charles Shaw‐Smith, Cas Simons, Sanjay M. Sisodiya, Penny Snell, Laura St Clair, Zornitza Stark, Helen Stewart, Tiong Yang Tan, Natalie B. Tan, Suzanna E.L. Temple, David R. Thorburn, Cynthia J. Tifft, Eloise Uebergang, Grace E. VanNoy, Pradeep Vasudevan, Éric Vilain, David Viskochil

    Publicado 2024
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