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Amali Mallawaarachchi

NSW Health
H指数:19
被引数:1,160

个人简介

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教育背景

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工作经历

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荣誉奖项

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Targeted sequencing and iterative assembly of near-complete genomes

靶向测序和近完整基因组的迭代组装

Nature Communications
IF15.7
2025-11-240
OAAI
Hasindu Gamaarachchi; Igor Stevanovski; Jillian M. Hammond; Andre L. M. Reis; Melissa Rapadas; Kavindu Jayasooriya; Tonia Russell; Dennis Yeow; Yvonne Hort; Chirag Patel; Andrew J. Mallett; Elaine Stackpoole; Lauren Roman; Luke W. Silver; Carolyn J. Hogg; Louise M. Streeting; Ozren Bogdanovic; Renata Coelho Rodrigues Noronha; Luís Adriano Santos do Nascimento; Adauto Lima Cardoso; Arthur Georges; Haoyu Cheng; Hardip R. Patel; Kishore Raj Kumar; Amali C. Mallawaarachchi; Ira W. Deveson
Shaping the future of kidney genetics in Australia: proceedings from the KidGen policy implementation workshop 2023
HUMAN GENOMICS
IF4.3
2024-08-172
OAAI
Mallawaarachchi, Amali; Biros, Erik; Harris, Trudie; Bennetts, Bruce; Boughtwood, Tiffany; Elliott, Justine; Fowles, Lindsay; Gardos, Robert; Garza, Denisse; Goranitis, Ilias; Haas, Matilda; Huntley, Vanessa; Jefferis, Julia; Kassahn, Karin; Leaver, Anna; Lundie, Ben; Lunke, Sebastian; O'Connor, Caitlin; Pratt, Greg; Quinlan, Catherine; Shearman, Dianne; Soraru, Jacqueline; Sundaram, Madhivanan; Tchan, Michel; Valente, Giulia; White, Julie; Wilkins, Ella; Alexander, Steve I.; Amir, Noa; Best, Stephanie; Gul, Hossai; Jayasinghe, Kushani; McCarthy, Hugh; Patel, Chirag; Stark, Zornitza; Mallett, Andrew J.
Implementation and Evaluation of a National Multidisciplinary Kidney Genetics Clinic Network Over 10 Years
KIDNEY INTERNATIONAL REPORTS
IF5.7
2024-08-016
OAAI
Jayasinghe, Kushani; Biros, Erik; Harris, Trudie; Wood, Alasdair; O'Shea, Rosie; Hill, Lauren; Fowles, Lindsay; Wardrop, Louise; Shalhoub, Carolyn; Hahn, Deirdre; Rangan, Gopala; Kevin, Lucy; Tchan, Michel; Snelling, Paul; Sandow, Rhiannon; Sundaram, Madhivan; Chaturvedi, Swasti; Trnka, Peter; Faull, Randall; Poplawski, Nicola K.; Huntley, Vanessa; Garza, Denisse; Wallis, Mathew; Jose, Matthew; Leaver, Anna; Trainer, Alison H.; Wilkins, Ella J.; White, Sue; Elbaum, Yoni; Prawer, Yael; Krzesinski, Emma; Valente, Giulia; Winship, Ingrid; Ryan, Jessica; Whitlam, John; Nicholls, Kathy; West, Kirsty; Donaldson, Liz; Johnstone, Lilian; Lewit-Mendes, Miranda; Kerr, Peter G.; Bodek, Simon; Chakera, Aron; MacShane, Mandi; Mincham, Christine; Stackpoole, Elaine; Willis, Francis; Soraru, Jacqueline; Pachter, Nick; Bennetts, Bruce; Forbes, Thomas A.; Mallawaarachchi, Amali; Quinlan, Catherine; Patel, Chirag; McCarthy, Hugh; Goranitis, Illias; Best, Stephanie; Alexander, Stephen; Stark, Zornitza; Mallett, Andrew J.
Genomic Testing in Patients with Kidney Failure of an Unknown Cause A National Australian Study
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
IF7.1
2024-05-032
OAAI
Mallawaarachchi, Amali C.; Fowles, Lindsay; Wardrop, Louise; Wood, Alasdair; O'Shea, Rosie; Biros, Erik; Harris, Trudie; Alexander, Stephen I.; Bodek, Simon; Boudville, Neil; Burke, Jo; Burnett, Leslie; Casauria, Sarah; Chadban, Steve; Chakera, Aron; Crafter, Sam; Dai, Pei; De Fazio, Paul; Faull, Randall; Honda, Andrew; Huntley, Vanessa; Jahan, Sadia; Jayasinghe, Kushani; Jose, Matthew; Leaver, Anna; Macshane, Mandi; Madelli, Evanthia Olympia; Nicholls, Kathy; Pawlowski, Rhonda; Rangan, Gopi; Snelling, Paul; Soraru, Jacqueline; Sundaram, Madhivanan; Tchan, Michel; Valente, Giulia; Wallis, Mathew; Wedd, Laura; Welland, Matthew; Whitlam, John; Wilkins, Ella J.; McCarthy, Hugh; Simons, Cas; Quinlan, Catherine; Patel, Chirag; Stark, Zornitza; Mallett, Andrew J.
Response to Lombardi and Mesnard
GENETICS IN MEDICINE
IF6.2
2024-01-010
OAAI
Wu, You; Jayasinghe, Kushani; Stark, Zornitza; Quinlan, Catherine; Patel, Chirag; McCarthy, Hugh; Mallawaarachchi, Amali C.; Kerr, Peter G.; Alexander, Stephen I.; Mallett, Andrew J.; Goranitis, Ilias
Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications

Introme准确预测编码和非编码变异对基因剪接的影响，具有临床应用

GENOME BIOLOGY
IF9.4
2023-05-178
OAAI
Sullivan, Patricia J.; Gayevskiy, Velimir; Davis, Ryan L.; Wong, Marie; Mayoh, Chelsea; Mallawaarachchi, Amali; Hort, Yvonne; McCabe, Mark J.; Beecroft, Sarah; Jackson, Matilda R.; Arts, Peer; Dubowsky, Andrew; Laing, Nigel; Dinger, Marcel E.; Scott, Hamish S.; Oates, Emily; Pinese, Mark; Cowley, Mark J.
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

基因组尸检以确定妊娠丢失和围产儿死亡的根本原因

NATURE MEDICINE
IF50
2023-01-1924
OAAI
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.; Scott, Hamish S.; Aguet, Francois; Arachchi, Harindra M.; Austin-Tse, Christina A.; Babb, Larry; Baxter, Samantha M.; Brand, Harrison; Byrne, Alicia B.; Chang, Jaime; Chao, Katherine R.; Collins, Ryan L.; Cummings, Beryl; Delano, Kayla; DiTroia, Stephanie P.; England, Eleina; Evangelista, Emily; Everett, Selin; Francioli, Laurent C.; Fu, Jack; Ganesh, Vijay S.; Garimella, Kiran, V; Gauthier, Laura D.; Goodrich, Julia K.; Gudmundsson, Sanna; Hall, Stacey J.; Huang, Yongqing; Jahl, Steve; Laricchia, Kristen M.; Larkin, Kathryn E.; Lek, Monkol; Lemire, Gabrielle; Lipson, Rachel B.; Lovgren, Alysia Kern; MacArthur, Daniel G.; Mangilog, Brian E.; Mano, Stacy; Marshall, Jamie L.; Mullen, Thomas E.; Nguyen, Kevin K.; O'Heir, Emily; O'Leary, Melanie C.; Osei-Owusu, Ikeoluwa A.; Pais, Lynn S.; Chavez, Jorge Perez de Acha; Pierce-Hoffman, Emma; Rehm, Heidi L.; Serrano, Milan; Singer-Berk, Moriel; Snow, Hana; Solomonson, Matthew; Son, Rachel G.; Sveden, Abigail; Talkowski, Michael; Tiao, Grace; Udler, Miriam S.; Valivullah, Zaheer; Valkanas, Elise; VanNoy, Grace E.; Wang, Qingbo S.; Watts, Nicholas A.; Weisburd, Ben; Williamson, Clara E.; Wilson, Michael W.; Witzgall, Lauren; Wojcik, Monica H.; Wong, Isaac; Wood, Jordan C.; Zhang, Shifa; Abeysuriya, Disna; Ades, Lesley C.; Amor, David J.; Arbuckle, Susan; Bakshi, Madhura; Barnete, Christopher P.; Berry, Bligh; Boughtwood, Tiffany; Bournazos, Adam; Bray, Alessandra; Chan, Fiona; Chan, Yuen; Chung, Clara; Clark, Jonathan; Collett, Jackie; Colley, Alison; Collins, Felicity; Cooper, Sandra; Corbett, Mark A.; Dahlstrom, Jane E.; Dargaville, Peter; Davies, Janene; Davis, Tenielle; Dearman, Jarrad; Dissanayake, Jayanthi; Dobbins, Julia; Doyle, Helen; Dubowsky, Andrew; Edwards, Matt; Ewans, Lisa J.; Fadia, Mitali; Fennell, Andrew; Finlay, Ken; French, Andrew; Friend, Kathryn; Gardner, Alison E.; Gecz, Jozef; Graf, Nicole; Haan, Eric A.; Hollingsworth, Georgina; Horton, Ari E.; Howting, Denise; Hunter, Matthew F.; Jevon, Gareth; Kamien, Benjamin; Kennedy, Debra; Khong, T. Yee; Krivanek, Michael; Kroes, Thessa; Krzesinski, Emma, I; Kwan, Edward; Lau, Stephanie; LeBlanc, Shannon; Liebelt, Jan; Lindsey-Temple, Suzanna; Lipsett, Jill; Loo, Christine K. C.; Low, Julia; Mallawaarachchi, Amali; Manton, Nick; Matsika, Admire; Mattiske, Tessa; McGaughran, Julie; McGillivray, George; McGregor, Lesley; McKenzie, Fiona; Mittal, Namita; Moghimi, Ali; Moore, Lynette; Albayrak, Hatice Mutlu; Ng, Jessica; Nicholl, Jillian; Pachter, Nicholas; Papadimitriou, John; Parker, Renae; Parsons, Sarah; Patel, Chirag; Pawlowski, Rhonda; Perez-Jurado, Luis A.; Pinner, Jason R.; Politis, Katerina; Poulton, Cathryn; Power, Theresa; Quinn, Michael; Rajagopalan, Sulekha; Regan, Matthew; Rodgers, Jonathan; Rorke, Steuart; Sachdev, Rani; Sallevelt, Suzanne; Sandaradura, Sarah A.; Shamassi, Maryam; Shamon, Roshan; Sherburn, Isabella; Slee, Ennie; Solinas, Annalisa; Sugo, Ella; Thompson, Elizabeth; Tripathy, Sagarika; Vasudevan, Anand; Vazquez, Melisa; Verma, Kunal; Viki, Mthulisi; Wallis, Mathew; Webber, Dani L.; Weber, Martin; Whale, Karen; Wilson, Meredith; Worgan, Lisa; Yu, Sui
Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis
NEUROLOGY
IF8.5
2022-08-1629
OAAI
Davis, Ryan L.; Kumar, Kishore R.; Puttick, Clare; Liang, Christina; Ahmad, Kate E.; Edema-Hildebrand, Fabienne; Park, Jin-Sung; Minoche, Andre E.; Gayevskiy, Velimir; Mallawaarachchi, Amali C.; Christodoulou, John; Schofield, Deborah; Dinger, Marcel E.; Cowley, Mark J.; Sue, Carolyn M.
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

使用临床可获得的标本进行RNA诊断的标准化实践重新分类了推定的剪接变体的75%

GENETICS IN MEDICINE
IF6.2
2022-01-0157
PRE
Bournazos, Adam M.; Riley, Lisa G.; Bommireddipalli, Shobhana; Ades, Lesley; Akesson, Lauren S.; Al-Shinnag, Mohammad; Alexander, Stephen, I; Archibald, Alison D.; Balasubramaniam, Shanti; Berman, Yemima; Beshay, Victoria; Boggs, Kirsten; Bojadzieva, Jasmina; Brown, Natasha J.; Bryen, Samantha J.; Buckley, Michael F.; Chong, Belinda; Davis, Mark R.; Dawes, Ruebena; Delatycki, Martin; Donaldson, Liz; Downie, Lilian; Edwards, Caitlin; Edwards, Matthew; Engel, Amanda; Ewans, Lisa J.; Faiz, Fathimath; Fennell, Andrew; Field, Michael; Freckmann, Mary-Louise; Gallacher, Lyndon; Gear, Russell; Goel, Himanshu; Goh, Shuxiang; Goodwin, Linda; Hanna, Bernadette; Harraway, James; Higgins, Megan; Ho, Gladys; Hopper, Bruce K.; Horton, Ari E.; Hunter, Matthew F.; Huq, Aamira J.; Josephi-Taylor, Sarah; Joshi, Himanshu; Kirk, Edwin; Krzesinski, Emma; Kumar, Kishore R.; Lemckert, Frances; Leventer, Richard J.; Lindsey-Temple, Suzanna E.; Lunke, Sebastian; Ma, Alan; Macaskill, Steven; Mallawaarachchi, Amali; Marty, Melanie; Marum, Justine E.; McCarthy, Hugh J.; Menezes, Manoj P.; McLean, Alison; Milnes, Di; Mohammad, Shekeeb; Mowat, David; Niaz, Aram; Palmer, Elizabeth E.; Patel, Chirag; Patel, Shilpan G.; Phelan, Dean; Pinner, Jason R.; Rajagopalan, Sulekha; Regan, Matthew; Rodgers, Jonathan; Rodrigues, Miriam; Roxburgh, Richard H.; Sachdev, Rani; Roscioli, Tony; Samarasekera, Ruvishani; Sandaradura, Sarah A.; Savva, Elena; Schindler, Tim; Shah, Margit; Sinnerbrink, Ingrid B.; Smith, Janine M.; Smith, Richard J.; Springer, Amanda; Stark, Zornitza; Strom, Samuel P.; Sue, Carolyn M.; Tan, Kenneth; Tan, Tiong Y.; Tantsis, Esther; Tchan, Michel C.; Thompson, Bryony A.; Trainer, Alison H.; Van Spaendonck-Zwarts, Karin; Walsh, Rebecca; Warwick, Linda; White, Stephanie; White, Susan M.; Williams, Mark G.; Wilson, Meredith J.; Wong, Wui Kwan; Wright, Dale C.; Yap, Patrick; Yeung, Alison; Young, Helen; Jones, Kristi J.; Bennetts, Bruce; Cooper, Sandra T.
Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2021-01-1233
OAAI
Mallawaarachchi, Amali C.; Lundie, Ben; Hort, Yvonne; Schonrock, Nicole; Senum, Sarah R.; Gayevskiy, Velimir; Minoche, Andre E.; Hollway, Georgina; Ohnesorg, Thomas; Hinchcliffe, Marcus; Patel, Chirag; Tchan, Michel; Mallett, Andrew; Dinger, Marcel E.; Rangan, Gopala; Cowley, Mark J.; Harris, Peter C.; Burnett, Leslie; Shine, John; Furlong, Timothy J.
Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney disease
KIDNEY INTERNATIONAL
IF12.6
2020-08-0139
OAAI
Huynh, Vinh T.; Audrezet, Marie-Pierre; Sayer, John A.; Ong, Albert C.; Lefevre, Siriane; Le Brun, Valoris; Despres, Aurore; Senum, Sarah R.; Chebib, Fouad T.; Barroso-Gil, Miguel; Patel, Chirag; Mallett, Andrew J.; Goel, Himanshu; Mallawaarachchi, Amali C.; Van Eerde, Albertien M.; Ponlot, Eleonore; Kribs, Marc; Le Meur, Yannick; Harris, Peter C.; Cornec-Le Gall, Emilie
Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity
HUMAN MUTATION
IF3.7
2019-11-2523
OAAI
Cheng, Hanyin; Capponi, Simona; Wakeling, Emma; Marchi, Elaine; Li, Quan; Zhao, Mengge; Weng, Chunhua; Stefan, Piatek G.; Ahlfors, Helena; Kleyner, Robert; Rope, Alan; Lumaka, Aime; Lukusa, Prosper; Devriendt, Koenraad; Vermeesch, Joris; Posey, Jennifer E.; Palmer, Elizabeth E.; Murray, Lucinda; Leon, Eyby; Diaz, Jullianne; Worgan, Lisa; Mallawaarachchi, Amalia; Vogt, Julie; de Munnik, Sonja A.; Dreyer, Lauren; Baynam, Gareth; Ewans, Lisa; Stark, Zornitza; Lunke, Sebastian; Goncalves, Ana R.; Soares, Gabriela; Oliveira, Jorge; Fassi, Emily; Willing, Marcia; Waugh, Jeff L.; Faivre, Laurence; Riviere, Jean-Baptiste; Moutton, Sebastien; Mohammed, Shehla; Payne, Katelyn; Walsh, Laurence; Begtrup, Amber; Sacoto, Maria J. Guillen; Douglas, Ganka; Alexander, Nora; Buckley, Michael F.; Mark, Paul R.; Ades, Lesley C.; Sandaradura, Sarah A.; Lupski, James R.; Roscioli, Tony; Agrawal, Pankaj B.; Kline, Antonie D.; Wang, Kai; Timmers, H. T. Marc; Lyon, Gholson J.

研究方向

暂未获取到该数据
C
Chirag Patel
H 指数:40论文数:208被引数:4,404
A
Andrew J. Mallett
H 指数:31论文数:301被引数:3,670
Z
Zornitza Stark
H 指数:52论文数:339被引数:1.1万
C
Catherine Quinlan
H 指数:21论文数:122被引数:1,721
H
Hugh J. McCarthy
H 指数:20论文数:92被引数:1,798
S
Stephen I. Alexander
H 指数:59论文数:317被引数:1.3万
M
Michel Tchan
H 指数:31论文数:158被引数:3,121
K
Kushani Jayasinghe
H 指数:12论文数:35被引数:931
M
Mark J. Cowley
H 指数:63论文数:409被引数:1.9万
Y
Yvonne Hort
H 指数:20论文数:44被引数:2,985