Hb Mizuho Case Report; Early Genomic Testing Facilitates a Life Changing Diagnosis.

Authors: Elieff, Olivia¹ (AUTHOR) Olivia.elieff@sa.gov.au, Rawlings, Lesley² (AUTHOR), Pham, Cuong³ (AUTHOR), Mihalopoulos, Samantha³ (AUTHOR), Henry, Denae² (AUTHOR), Simons, Keryn² (AUTHOR), Tapp, Heather¹ (AUTHOR)

Source: Hemoglobin. Jan2024, Vol. 48 Issue 1, p30-33. 4p.

Subject Terms: *NUCLEOTIDE sequencing, *ERYTHROCYTES, *DELAYED diagnosis, *CHILD patients, *DIAGNOSIS

Geographic Terms: AUSTRALIA

Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation

Authors: Akesson, Lauren, Allcock, Richard, Ashton, Katie, Bell, Damon A., Brown, Anna, Buckley, Michael, Burnett, John R., Burrows, Linda, Byrne, Alicia, Chan, Eva, Cliffe, Corrina, Clifton-Bligh, Roderick, Dooley, Susan, Fernandez, Miriam Fanjul, Farnsworth, Elizabeth, Ha, Thuong, Henry, Denae, Holds, Duncan, Holman, Katherine, Jackson, Matilda, Kang, Sinlay, Luxford, Catherine, McManus, Sam, Mehrtens, Rachael, Meldrum, Cliff, Mossman, David, Pantaleo, Sarah-Jane, Phelan, Dean, Pontikinas, Electra, Ravine, Anja, Roscioli, Tony, Scott, Rodney, Simons, Keryn, Vanwageningen, Oliver, Tudini, Emma, Andrews, James, Lawrence, David M., King-Smith, Sarah L., Baker, Naomi, Baxter, Leanne, Beilby, John, Bennetts, Bruce, Beshay, Victoria, Black, Michael, Boughtwood, Tiffany F., Brion, Kristian, Cheong, Pak Leng, Christie, Michael, Christodoulou, John, Chong, Belinda, Cox, Kathy, Davis, Mark R., Dejong, Lucas, Dinger, Marcel E., Doig, Kenneth D., Douglas, Evelyn, Dubowsky, Andrew, Ellul, Melissa, Fellowes, Andrew, Fisk, Katrina, Fortuno, Cristina, Friend, Kathryn, Gallagher, Renee L., Gao, Song, Hackett, Emma, Hadler, Johanna, Hipwell, Michael, Ho, Gladys, Hollway, Georgina, Hooper, Amanda J., Kassahn, Karin S., Krishnaraj, Rahul, Lau, Chiyan, Le, Huong, San Leong, Huei, Lundie, Ben, Lunke, Sebastian, Marty, Anthony, McPhillips, Mary, Nguyen, Lan T., Nones, Katia, Palmer, Kristen, Pearson, John V., Quinn, Michael C.J., Rawlings, Lesley H., Sadedin, Simon, Sanchez, Louisa, Schreiber, Andreas W., Sigalas, Emanouil, Simsek, Aygul, Soubrier, Julien, Stark, Zornitza, Thompson, Bryony A., U, James, Vakulin, Cassandra G., Wells, Amanda V., Wise, Cheryl A., Woods, Rick, Ziolkowski, Andrew, Brion, Marie-Jo, Scott, Hamish S., Thorne, Natalie P., Spurdle, Amanda B.

Source: In The American Journal of Human Genetics 3 November 2022 109(11):1960-1973

RNF43 pathogenic Germline variant in a family with colorectal cancer

Authors: Mikaeel, Reger R., Young, Joanne P., Li, Yun, Poplawski, Nicola K., Smith, Eric, Horsnell, Mehgan, Uylaki, Wendy, Tomita, Yoko, Townsend, Amanda R., Feng, Jinghua, Zibat, Arne, Kaulfuß, Silke, Müller, Christian, Yigit, Gökhan, Wollnik, Bernd, Scott, Hamish, Rawlings, Lesley, Henry, Denae, Vakulin, Cassandra, Dubowsky, Andrew, Price, Timothy J.

Source: Clinical genetics. 101(1):122-126

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100136682141.0x000001&indx=1&recIds=ETOCvdc_100136682141.0x000001

Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation

Authors: Tudini, Emma, Andrews, James, Lawrence, David M., King-Smith, Sarah L., Baker, Naomi, Baxter, Leanne, Beilby, John, Bennetts, Bruce, Beshay, Victoria, Black, Michael, Boughtwood, Tiffany F., Brion, Kristian, Cheong, Pak Leng, Christie, Michael, Christodoulou, John, Chong, Belinda, Cox, Kathy, Davis, Mark R., Dejong, Lucas, Dinger, Marcel E., Doig, Kenneth D., Douglas, Evelyn, Dubowsky, Andrew, Ellul, Melissa, Fellowes, Andrew, Fisk, Katrina, Fortuno, Cristina, Friend, Kathryn, Gallagher, Renee L., Gao, Song, Hackett, Emma, Hadler, Johanna, Hipwell, Michael, Ho, Gladys, Hollway, Georgina, Hooper, Amanda J., Kassahn, Karin S., Krishnaraj, Rahul, Lau, Chiyan, Le, Huong, San Leong, Huei, Lundie, Ben, Lunke, Sebastian, Marty, Anthony, McPhillips, Mary, Nguyen, Lan T., Nones, Katia, Palmer, Kristen, Pearson, John V., Quinn, Michael C.J., Rawlings, Lesley H., Sadedin, Simon, Sanchez, Louisa, Schreiber, Andreas W., Sigalas, Emanouil, Simsek, Aygul, Soubrier, Julien, Stark, Zornitza, Thompson, Bryony A., U, James, Vakulin, Cassandra G., Wells, Amanda V., Wise, Cheryl A., Woods, Rick, Ziolkowski, Andrew, Brion, Marie-Jo, Scott, Hamish S., Thorne, Natalie P., Spurdle, Amanda B.

Source: American journal of human genetics. 109(11):1960-1973

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100178359459.0x000001&indx=1&recIds=ETOCvdc_100178359459.0x000001

Recurrent pneumothorax in a case of tenascin‐X deficient Ehlers–Danlos syndrome: Broadening the phenotypic spectrum

Authors: Santoreneos, Renee, Vakulin, Cassandra, Ellul, Melissa, Rawlings, Lesley, Hardy, Tristan, Poplawski, Nicola

Source: American journal of medical genetics.Part A. 188(5):1583-1588

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100146659026.0x000001&indx=1&recIds=ETOCvdc_100146659026.0x000001

A de novo missense variant in MED13 in a patient with global developmental delay, marked facial dysmorphism, macroglossia, short stature, and macrocephaly

Authors: Rogers, Alice P., Friend, Kathryn, Rawlings, Lesley, Barnett, Christopher P.

Source: American journal of medical genetics.Part A. 185(8):2586-2592

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100135371998.0x000001&indx=1&recIds=ETOCvdc_100135371998.0x000001

GATA2 deficiency syndrome: A decade of discovery

Authors: Homan, Claire C., Venugopal, Parvathy, Arts, Peer, Shahrin, Nur H., Feurstein, Simone, Rawlings, Lesley, Lawrence, David M., Andrews, James, King‐Smith, Sarah L., Harvey, Natasha L., Brown, Anna L., Scott, Hamish S., Hahn, Christopher N.

Source: Human mutation. 42(11):1399-1421

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100132571851.0x000001&indx=1&recIds=ETOCvdc_100132571851.0x000001

Extending the new era of genomic testing into pregnancy management: A proposed model for Australian prenatal services.

Authors: Rogers, Alice, De Jong, Lucas, Waters, Wendy, Rawlings, Lesley H., Simons, Keryn, Gao, Song, Soubrier, Julien, Kenyon, Rosalie, Lin, Ming, King, Rob, Lawrence, David M., Muller, Peter, Leblanc, Shannon, McGregor, Lesley, Sallevelt, Suzanne C. E. H., Liebelt, Jan, Hardy, Tristan S. E., Fletcher, Janice M., Scott, Hamish S., Kulkarni, Abhi

Source: Australian & New Zealand Journal of Obstetrics & Gynaecology; Oct2024, Vol. 64 Issue 5, p467-474, 8p

Subject Terms: GENOMICS, MATERNAL health services, PREGNANCY outcomes, TERTIARY care, DESCRIPTIVE statistics, DECISION making, PRENATAL care, LONGITUDINAL method, GESTATIONAL age, CASE studies, SEQUENCE analysis, MOLECULAR diagnosis, GENETIC testing

Geographic Terms: AUSTRALIA

RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML

Authors: Brown, Anna L. ^{*, *}, Arts, Peer ^*, Carmichael, Catherine L., Babic, Milena, Dobbins, Julia, Chong, Chan-Eng, Schreiber, Andreas W., Feng, Jinghua, Phillips, Kerry, Wang, Paul P.S., Ha, Thuong, Homan, Claire C., King-Smith, Sarah L., Rawlings, Lesley, Vakulin, Cassandra, Dubowsky, Andrew, Burdett, Jessica, Moore, Sarah, McKavanagh, Grace, Henry, Denae, Wells, Amanda, Mercorella, Belinda, Nicola, Mario, Suttle, Jeffrey, Wilkins, Ella, Li, Xiao-Chun, Michaud, Joelle ^*, Brautigan, Peter, Cannon, Ping, Altree, Meryl, Jaensch, Louise, Fine, Miriam, Butcher, Carolyn, D'Andrea, Richard J., Lewis, Ian D., Hiwase, Devendra K., Papaemmanuil, Elli, Horwitz, Marshall S., Natsoulis, Georges, Rienhoff, Hugh Y., Jr, Patton, Nigel, Mapp, Sally, Susman, Rachel, Morgan, Susan, Cooney, Julian, Currie, Mark, Popat, Uday, Bochtler, Tilmann, Izraeli, Shai, Bradstock, Kenneth, Godley, Lucy A., Krämer, Alwin, Fröhling, Stefan, Wei, Andrew H., Forsyth, Cecily, Mar Fan, Helen, Poplawski, Nicola K., Hahn, Christopher N. ^{*, *}, Scott, Hamish S. ^{*, *}

Source: In Blood Advances 24 March 2020 4(6):1131-1144

ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants

Authors: Luo, Xi ^*, Feurstein, Simone ^*, Mohan, Shruthi, Porter, Christopher C., Jackson, Sarah A., Keel, Sioban, Chicka, Michael, Brown, Anna L., Kesserwan, Chimene, Agarwal, Anupriya, Luo, Minjie, Li, Zejuan, Ross, Justyne E., Baliakas, Panagiotis, Pineda-Alvarez, Daniel, DiNardo, Courtney D., Bertuch, Alison A., Mehta, Nikita, Vulliamy, Tom, Wang, Ying, Nichols, Kim E., Malcovati, Luca, Walsh, Michael F., Rawlings, Lesley H., McWeeney, Shannon K., Soulier, Jean, Raimbault, Anna, Routbort, Mark J., Zhang, Liying, Ryan, Gabriella, Speck, Nancy A., Plon, Sharon E., Wu, David, Godley, Lucy A.

Source: In Blood Advances 22 October 2019 3(20):2962-2979

CDH1‐related blepharocheilodontic syndrome is associated with diffuse gastric cancer risk

Authors: LeBlanc, Shannon, Naveen, Dildeepa, Haan, Eric, Barnett, Christopher, Rawlings, Lesley, Roscioli, Tony, Poplawski, Nicola

Source: American journal of medical genetics.Part A. 182(7):1780-1784

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100107684906.0x000001&indx=1&recIds=ETOCvdc_100107684906.0x000001

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

Authors: 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., Scott, Hamish S.

Source: In Blood Advances 9 July 2024 8(13):3437-3443

Identification of monogenic diabetes in an Australian cohort using the Exeter maturity-onset diabetes of the young (MODY) probability calculator and next-generation sequencing gene panel testing.

Authors: De Sousa, Sunita M. C., Wu, Kathy H. C., Colclough, Kevin, Rawlings, Lesley, Dubowsky, Andrew, Monnik, Melissa, Poplawski, Nicola, Scott, Hamish S., Horowitz, Michael, Torpy, David J.

Source: Acta Diabetologica; Feb2024, Vol. 61 Issue 2, p181-188, 8p

Subject Terms: MATURITY onset diabetes of the young, TYPE 2 diabetes, NUCLEOTIDE sequencing, DIABETES, GENETIC testing, CLIFFORD algebras

Geographic Terms: EXETER (England)

Clefting and cancer: A complex CDH1 case

Authors: Phan, Jennifer, Kulkarni, Abhijit, Dubowsky, Andrew, Rawlings, Lesley, Friend, Kathryn, Hardy, Tristan, Yu, Sui

Source: Pathology. 54(S1):S14-S14

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100157592358.0x000001&indx=1&recIds=ETOCvdc_100157592358.0x000001

Rapid functional assessment of a suspected pathogenic NLRP3 gene variant in a family with a CAPS phenotype

Authors: Quach, Alex, Lao, Yunyu, Rawlings, Lesley, Poplawski, Nicola, Ferrante, Antonio

Source: Pathology. 54(S1):S23-S23

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100155951251.0x000001&indx=1&recIds=ETOCvdc_100155951251.0x000001

DCTA triplets: a fascinating trip

Authors: Phan, Jennifer, DeJong, Lucas, Kassahn, Karin, Vakulin, Cassandra, Simsek, Aygul, Rawlings, Lesley, Dubowsky, Andrew, Waters, Wendy, Yu, Sui, Hardy, Tristan

Source: In Pathology February 2024 56 Supplement 1:S17-S18

Cover, Volume 42, Issue 11

Authors: Homan, Claire C., Venugopal, Parvathy, Arts, Peer, Shahrin, Nur H., Feurstein, Simone, Rawlings, Lesley, Lawrence, David M., Andrews, James, King‐Smith, Sarah L., Harvey, Natasha L., Brown, Anna L., Scott, Hamish S., Hahn, Christopher N.

Source: Human mutation. 42(11):i-i

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100131857121.0x000001&indx=1&recIds=ETOCvdc_100131857121.0x000001

BAP1 Tumour Predisposition Syndrome Due to Whole BAP1 Gene Deletion.

Authors: Pandithan, Dinusha, Klebe, Sonja, McKavanagh, Grace, Rawlings, Lesley, Yu, Sui, Nicholl, Jillian, Poplawski, Nicola

Source: Case Reports in Genetics; 9/13/2022, Vol. 2022, p1-4, 4p

Subject Terms: DELETION mutation, HEREDITARY cancer syndromes, TUMORS, SYNDROMES

Review of 12 months of copy number variant calling on a clinical next generation sequencing pipeline

Authors: Mordaunt, Dylan A., Soubrier, Julien, Gao, Song, Rawlings, Lesley, Nicholl, Jillian, Yu, Sui, Fletcher, Janice, Kassahn, Karin

Source: Pathology. 52(S1):S108-S108

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100118761032.0x000001&indx=1&recIds=ETOCvdc_100118761032.0x000001

Phylogeographic analysis of the green python, Morelia viridis, reveals cryptic diversity

Authors: Rawlings, Lesley H., Donnellan, Stephen C.

Source: In Molecular Phylogenetics and Evolution 2003 27(1):36-44