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Your search keyword '"Jackson, Matilda R"' showing total 4 results
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4 results on '"Jackson, Matilda R"'

1. Author Correction: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

Author

Byrne, Alicia B., Arts, Peer, Ha, Thuong T., Kassahn, Karin S., Pais, Lynn S., O’Donnell-Luria, Anne, Babic, Milena, Frank, Mahalia S. B., Feng, Jinghua, Wang, Paul, Lawrence, David M., Eshraghi, Leila, Arriola, Luis, Toubia, John, Nguyen, Hung, McGillivray, George, Pinner, Jason, McKenzie, Fiona, Morrow, Rebecca, Lipsett, Jill, Manton, Nick, Khong, T. Yee, Moore, Lynette, Liebelt, Jan E., Schreiber, Andreas W., King-Smith, Sarah L., Hardy, Tristan S. E., Jackson, Matilda R., Barnett, Christopher P., and Scott, Hamish S.

Published
2024
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2. Unravelling Facets of MECOM-Associated Syndrome: Somatic Genetic Rescue, Clonal Hematopoiesis and Phenotype Expansion

Author

Poli Van Creveldkliniek Medisch, Regenerative Medicine and Stem Cells, Cancer, Genetica Sectie Genoomdiagnostiek, Genetica Klinische Genetica, Child Health, Genetica, Venugopal, Parvathy, Arts, Peer, Fox, Lucy Claire, Simons, Annet, Hiwase, Devendra K, Bardy, Peter G, Narcis, Annette, Ross, David M, van Vulpen, Lize F D, Buijs, Arjan, Bolton, Kelly L, Getta, Bartlomiej, Furlong, Eliska, Carter, Tina, Krapels, Ingrid, Hoeks, Marlijn P A, Al Kindy, Adila, Al Kindy, Farah, de Munnik, Sonja, Evans, Pamela, Frank, Mahalia S B, Bournazos, Adam, Cooper, Sandra T, Ha, Thuong Thi, Jackson, Matilda R, Arriola-Martinez, Luis Alberto, Phillips, Kerry, Brennan, Yvonne, Bakshi, Madhura, Ambler, Karen, Gao, Song, Kassahn, Karin S, Kenyon, Rosalie, Hung, Kevin, Babic, Milena, McGovern, Alan, Rawlings, Lesley, Valkulin, Cassandra, Dejong, Lucas, Fathi, Rema, McRae, Simon, Myles, Nicholas, Ladon, Dariusz, Jongmans, Marjolijn C, Kuiper, Roland P, Poplawski, Nicola, Barbaro, Pasquale M, Blombery, Piers, Brown, Anna L, Hahn, Christopher N, Scott, Hamish S, Poli Van Creveldkliniek Medisch, Regenerative Medicine and Stem Cells, Cancer, Genetica Sectie Genoomdiagnostiek, Genetica Klinische Genetica, Child Health, Genetica, Venugopal, Parvathy, Arts, Peer, Fox, Lucy Claire, Simons, Annet, Hiwase, Devendra K, Bardy, Peter G, Narcis, Annette, Ross, David M, van Vulpen, Lize F D, Buijs, Arjan, Bolton, Kelly L, Getta, Bartlomiej, Furlong, Eliska, Carter, Tina, Krapels, Ingrid, Hoeks, Marlijn P A, Al Kindy, Adila, Al Kindy, Farah, de Munnik, Sonja, Evans, Pamela, Frank, Mahalia S B, Bournazos, Adam, Cooper, Sandra T, Ha, Thuong Thi, Jackson, Matilda R, Arriola-Martinez, Luis Alberto, Phillips, Kerry, Brennan, Yvonne, Bakshi, Madhura, Ambler, Karen, Gao, Song, Kassahn, Karin S, Kenyon, Rosalie, Hung, Kevin, Babic, Milena, McGovern, Alan, Rawlings, Lesley, Valkulin, Cassandra, Dejong, Lucas, Fathi, Rema, McRae, Simon, Myles, Nicholas, Ladon, Dariusz, Jongmans, Marjolijn C, Kuiper, Roland P, Poplawski, Nicola, Barbaro, Pasquale M, Blombery, Piers, Brown, Anna L, Hahn, Christopher N, and Scott, Hamish S

Published
2024

3. Unraveling facets of MECOM-associated syndrome: somatic genetic rescue, clonal hematopoiesis, and phenotype expansion

Author

Venugopal, Parvathy, Arts, Peer, Fox, Lucy C., Simons, Annet, Hiwase, Devendra K., Bardy, Peter G., Swift, Annette, Ross, David M., van Vulpen, Lize F. D., Buijs, Arjan, Bolton, Kelly L., Getta, Bartlomiej, Furlong, Eliska, Carter, Tina, Krapels, Ingrid, Hoeks, Marlijn, Al Kindy, Adila, Al Kindy, Farah, de Munnik, Sonja, Evans, Pamela, Frank, Mahalia S. B., Bournazos, Adam M., Cooper, Sandra T., Ha, Thuong Thi, Jackson, Matilda R., Arriola-Martinez, Luis, Phillips, Kerry, Brennan, Yvonne, Bakshi, Madhura, Ambler, Karen, Gao, Song, Kassahn, Karin S., Kenyon, Rosalie, Hung, Kevin, Babic, Milena, McGovern, Alan, Rawlings, Lesley, Vakulin, Cassandra, Dejong, Lucas, Fathi, Rema, McRae, Simon, Myles, Nicholas, Ladon, Dariusz, Jongmans, Marjolijn, Kuiper, Roland P., Poplawski, Nicola K., Barbaro, Pasquale, Blombery, Piers, Brown, Anna L., Hahn, Christopher N., and Scott, Hamish S.

Published
2024
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4. The Australian Genomics Mitochondrial Flagship: A National Program Delivering Mitochondrial Diagnoses.

Author

Rius, Rocio, Compton, Alison G., Baker, Naomi L., Balasubramaniam, Shanti, Best, Stephanie, Bhattacharya, Kaustuv, Boggs, Kirsten, Boughtwood, Tiffany, Braithwaite, Jeffrey, Bratkovic, Drago, Bray, Alessandra, Brion, Marie-Jo, Burke, Jo, Casauria, Sarah, Chong, Belinda, Coman, David, Cowie, Shannon, Cowley, Mark, de Silva, Michelle G., Delatycki, Martin B., Edwards, Samantha, Ellaway, Carolyn, Fahey, Michael C., Finlay, Keri, Fletcher, Janice, Frajman, Leah E., Frazier, Ann E., Gayevskiy, Velimir, Ghaoui, Roula, Goel, Himanshu, Goranitis, Ilias, Haas, Matilda, Hock, Daniella H., Howting, Denise, Jackson, Matilda R., Kava, Maina P., Kemp, Madonna, King-Smith, Sarah, Lake, Nicole J., Lamont, Phillipa J., Lee, Joy, Long, Janet C., MacShane, Mandi, Madelli, Evanthia O., Martin, Ellenore M., Marum, Justine E., Mattiske, Tessa, McGill, Jim, Metke, Alejandro, Murray, Sean, Panetta, Julie, Phillips, Liza K., Quinn, Michael C.J., Ryan, Michael T., Schenscher, Sarah, Simons, Cas, Smith, Nicholas, Stroud, David A., Tchan, Michel C., Tom, Melanie, Wallis, Mathew, Ware, Tyson L., Welch, AnneMarie E., Wools, Christine, Wu, You, Christodoulou, John, and Thorburn, David R.

Abstract

Families living with mitochondrial diseases (MD) often endure prolonged diagnostic journeys and invasive testing, yet many remain without a molecular diagnosis. The Australian Genomics Mitochondrial flagship, comprising clinicians, diagnostic, and research scientists, conducted a prospective national study to identify the diagnostic utility of singleton genomic sequencing using blood samples.

Published
2024
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