日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Semi-automated genomic newborn screening highlights complexities in reporting

半自动化基因组新生儿筛查凸显了报告的复杂性。

Chowdhury, Ayesha; Marri, Shashikanth; Anastasi, Lucy; Ashenden, Alex; Rozek, Tomas; Feng, Jinghua; DeJong, Lucas; Kenyon, Rosalie; Kaczorowski, Dominik; Nguyen, Hung; Lam, Khoa; Stallard, Kirsty; Merlin, Tracy; Ranieri, Enzo; De Sousa, Sunita; Smith, Nicholas; Kulkarni, Abhi; Saxon, Benjamin; Bratkovic, Drago; Barnett, Christopher; Siu, Carol Wai-Kwan; Scott, Hamish S; King, Jovanka; Kassahn, Karin S

Piloting an Interpretive External Quality Assurance Model for Genomic Testing for Childhood Syndromes and Intellectual Disability

试点应用解释性外部质量保证模式进行儿童综合征和智力障碍的基因组检测

Lundie, Ben; Chai, Sze Yee; Byrne, Alicia B; Azmanov, Dimitar; Christodoulou, John; Haas, Matilda A; Kassahn, Karin S; Lunke, Sebastian; Stott, Ami; Thompson, Bryony A; Badrick, Tony; Bennetts, Bruce

NewbornsInSA multi-omic newborn screening: protocol for a prospective cohort study

NewbornsInSA 多组学新生儿筛查:前瞻性队列研究方案

Anastasi, Lucy; Chowdhury, Ayesha; Ashenden, Alex; Rozek, Tomas; Louise, Jennie; Lam, Khoa; Skinner, Stephanie; Stallard, Kirsty; Merlin, Tracy; Schubert, Camille; Vogan, Arlene; Morris, Scott; Cohen-Woods, Sarah; Smith, Nicholas; Ranieri, Enzo; Saxon, Benjamin; Scott, Hamish S; Bratkovic, Drago; Barnett, Christopher P; Siu, Carol Wai-Kwan; King, Jovanka; Kassahn, Karin S

Genomic Screening Consortium for Australian Newborns (GenSCAN)

澳大利亚新生儿基因组筛查联盟(GenSCAN)

Taylor, Natalie; Pirreca, Michelle; Bennetts, Bruce; Ho, Gladys; Boggs, Kirsten; Kassahn, Karin S; Anastasi, Lucy; Godler, David Eugeny; Alshawsh, Mohammed; Norris, Sarah; Scarfe, Joanne; Boughtwood, Tiffany; Baynam, Gareth; Burns, Belinda; Ranieri, Enzo; Caruana, Jade; Lunke, Sebastian; Best, Stephanie; Stark, Zornitza

Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts

可扩展的基因组数据自动化再分析在研究和临床罕见病队列中的应用

Welland, Matthew J; Ahlquist, K D; De Fazio, Paul; Austin-Tse, Christina; Pais, Lynn; Wedd, Laura; Bryen, Samantha; Rius, Rocio; Franklin, Michael; Morrison, Caitlin; Hall, Giles; Gauthier, Laura; Bloemendal, Alex; Francis, David I; Mallett, Andrew J; Mallawaarachchi, Amali; Lockhart, Paul J; Leventer, Richard; Scheffer, Ingrid E; Howell, Katherine B; Kassahn, Karin S; Scott, Hamish S; McGaughran, Julie; Christodoulou, John; Thorburn, David R; Thompson, Bryony A; Patel, Chirag V; Smith, Greg; O'Donnell-Luria, Anne; Sadedin, Simon; Rehm, Heidi L; Lunke, Sebastian; Wander, Jeremiah; Samocha, Kaitlin E; Simons, Cas; MacArthur, Daniel G; Stark, Zornitza

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

作者更正:基因组尸检用于识别妊娠丢失和围产期死亡的根本原因

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

Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition

生殖系ERG单倍体不足定义了一种新的综合征,其特征是血细胞减少和血液系统恶性肿瘤易感性

Zerella, Jiarna R; Homan, Claire C; Arts, Peer; Lin, Xuzhu; Spinelli, Sam J; Venugopal, Parvathy; Babic, Milena; Brautigan, Peter J; Truong, Lynda; Arriola-Martinez, Luis; Moore, Sarah; Hollins, Rachel; Parker, Wendy T; Nguyen, Hung; Kassahn, Karin S; Branford, Susan; Feurstein, Simone; Larcher, Lise; Sicre de Fontbrune, Flore; Demirdas, Serwet; de Munnik, Sonja; Antoine-Poirel, Hélène; Brichard, Benedicte; Mansour, Sahar; Gordon, Kristiana; Wlodarski, Marcin W; Koppayi, Ashwin; Dobbins, Sara; Mutsaers, Pim G N J; Nichols, Kim E; Oak, Ninad; DeMille, Desiree; Mao, Rong; Crawford, Ali; McCarrier, Julie; Basel, Donald; Flores-Daboub, Josue; Drazer, Michael W; Phillips, Kerry; Poplawski, Nicola K; Birdsey, Graeme M; Pirri, Daniela; Ostergaard, Pia; Simons, Annet; Godley, Lucy A; Ross, David M; Hiwase, Devendra K; Soulier, Jean; Brown, Anna L; Carmichael, Catherine L; Scott, Hamish S; Hahn, Christopher N

Myeloid neoplasms arising after methotrexate therapy for autoimmune rheumatological diseases do not exhibit poor-risk molecular features

甲氨蝶呤治疗自身免疫性风湿病后发生的髓系肿瘤不表现出不良预后的分子特征。

Wechalekar, Mihir D; Zhao, Lin-Pierre; Kutyna, Monika M; Hong, Lih En; Li, Joule; Hung, Kevin; Scott, Hamish S; Brown, Anna; Hahn, Christopher C; Kassahn, Karin; Ladon, Dariusz; Yeung, David T; Thomas, Daniel; Patnaik, Mrinal; Proudman, Susanna; Ades, Lionel; Shah, Mithun V; Kok, Chung H; Hiwase, Devendra K

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

揭示MECOM相关综合征的各个方面:体细胞基因拯救、克隆性造血和表型扩展

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

Shaping the future of kidney genetics in Australia: proceedings from the KidGen policy implementation workshop 2023

塑造澳大利亚肾脏遗传学的未来:2023年KidGen政策实施研讨会论文集

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