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E

Edwin P. Kirk

randwick genomics laboratory
H指数:47
被引数:8,504

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The Australian PreGen Study: Results From Prospective Prenatal Exome Sequencing in 275 Pregnancies

澳大利亚PreGen研究：来自275例妊娠前瞻性产前外显子测序的结果

Prenatal Diagnosis
IF2.7
2026-09-290
PRE
Conor Rowntree; Gemma Fernihough; Sarah Long; Mohammad Al-Shinnag; Alyssa Wilson; Jayamala Parmar; Natalie Hart; Mandi MacShane; Kate Ross; Di Milnes; Benjamin Kamien; Jan E. Dickinson; Jon Hyett; John Smoleniec; Lesley McGregor; Rachael Stenhouse; Rebecca Vink; Sebastian Lunke; Meg Wall; Lucas de Jong; Abhijit Kulkarni; Rosalie Kenyon; Jinghua Feng; Matilda R. Jackson; Karin Kassahn; Hamish S. Scott; Edwin Kirk; Martin Smith; Futao Zhang; Josh Kraindler; Luke Rynehart; Rupendra Shrestha; Deborah Schofield; Ying Zhu; Michael F. Buckley; George McGillivray; Tony Roscioli; The PreGen Consortium
Genomic sequencing technologies for rare disease in mainstream healthcare: the current state of implementation

罕见病基因组测序技术在主流医疗保健中的应用现状

European Journal of Human Genetics
IF4.6
2025-08-220
PRE
Michael P. Mackley; Pankaj B. Agrawal; Sara S. Ali; Alison D. Archibald; Belinda Dawson-McClaren; Holly Ellard; Lucinda Freeman; Yuanyuan Gu; Kushani Jayasinghe; Shan Jiang; Edwin P. Kirk; Celine Lewis; Alison McEwen; Amy Nisselle; Catherine Quinlan; Bronwyn Terrill; Erin Tutty; Alisdair McNeill
Haploinsufficient variants in SMAD5 are associated with isolated congenital heart disease

SMAD5基因中的剂量敏感性不足变异与孤立性先天性心脏病相关

Human Genetics and Genomics Advances
IF3.6
2025-07-050
OAAI
Dimuthu Alankarage; Iryna Leshchynska; Stephanie Portelli; Alena Sipka; Gillian M. Blue; Victoria O’Reilly; Debjani Das; Emma M. Rath; Annabelle Enriquez; Michael Troup; Miriam Fine; Nicola Poplawski; Maxim Verlee; David T. Humphreys; Richard P. Harvey; Gavin Chapman; Edwin P. Kirk; David S. Winlaw; Bert Callewaert; Wendy K. Chung; David Ascher; Eleni Giannoulatou; Sally L. Dunwoodie
Nationwide, Couple-Based Genetic Carrier Screening

全国范围内的伴侣基因携带者筛查

OBSTETRICAL & GYNECOLOGICAL SURVEY
IF3.6
2025-05-010
PRE
Kirk, E. P.; Delatycki, M. B.; Archibald, A. D.; Tutty, E.; Caruana, J.; Halliday, J. L.; Lewis, S.; Mcclaren, B. J.; Newson, A. J.; Dive, L.; Best, S.; Long, J. C.; Braithwaite, J.; Downes, M. J.; Scuffham, P. A.; Massie, J.; Barlow-Stewart, K.; Kulkarni, A.; Ruscigno, A.; Kanga-Parabia, A.; Rodrigues, B.; Bennetts, B. H.; Ebzery, C.; Hunt, C.; Cliffe, C. C.; Lee, C.; Azmanov, D.; King, E. A.; Madelli, E. O.; Zhang, F.; Ho, G.; Danos, I.; Liebelt, J.; Fletcher, J.; Kennedy, J.; Beilby, J.; Emery, J. D.; Mcgaughran, J.; Marum, J. E.; Scarff, K.; Fisk, K.; Harrison, K.; Boggs, K.; Giameos, L.; Fitzgerald, L.; Thomas, L.; Burnett, L.; Freeman, L.; Harris, M.; Berbic, M.; Davis, M. R.; Cifuentes Ochoa, M.; Wallis, M.; Wall, M.; Chow, M. T. M.; Ferrie, M. M.; Pachter, N.; Quayum, N.; Lang, N.; Pandy, P. Kasi; Casella, R.; Allcock, R. J. N.; Ong, R.; Edwards, S.; Sundercombe, S.; Jelenich, S.; Righetti, S.; Lunke, S.; Kaur, S.; Stock-Myer, S.; Eggers, S.; Walker, S. P.; Theodorou, T.; Catchpool, T.; Clinch, T.; Roscioli, T.; Hardy, T.; Zhu, Y.; Fehlberg, Z.; Boughtwood, T. F.; Laing, N. G.
Guidelines for reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome and spinal muscular atrophy

遗传生殖携带者筛查指南：囊性纤维化、脆性X综合征和脊髓性肌萎缩症

Pathology
IF3
2025-03-260
PRE
Edwin Kirk; Linda Mundy; Eric Lee; Ben Lundie; Nigel Laing; Alison D. Archibald; Ainsley J. Newson; Kym Mina; Kevin Carpenter; Kate Neas; Richard King; Monica Ferrie; Sebastian Lunke; Tiffany Boughtwood; Martin B. Delatycki; Jon Emery; Helen Mountain; Lisa Hui; Lisa Dive; Michelle A. Farrar; John Massie
Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort

缩小诊断差距: 外显子组阴性智力障碍队列中的基因组，表生特征，长阅读测序和健康经济学分析

GENETICS IN MEDICINE
IF6.2
2024-05-012
PRE
Dias, Kerith-Rae; Shrestha, Rupendra; Schofield, Deborah; Evans, Carey-Anne; O'Heir, Emily; Zhu, Ying; Zhang, Futao; Standen, Krystle; Weisburd, Ben; Stenton, Sarah L.; Sanchis-Juan, Alba; Brand, Harrison; Talkowski, Michael E.; Ma, Alan; Ghedia, Sondy; Wilson, Meredith; Sandaradura, Sarah A.; Smith, Janine; Kamien, Benjamin; Turner, Anne; Bakshi, Madhura; Ades, Lesley C.; Mowat, David; Regan, Matthew; McGillivray, George; Savarirayan, Ravi; White, Susan M.; Tan, Tiong Yang; Stark, Zornitza; Brown, Natasha J.; Perez-Jurado, Luis A.; Krzesinski, Emma; Hunter, Matthew F.; Akesson, Lauren; Fennell, Andrew Paul; Yeung, Alison; Boughtwood, Tiffany; Ewans, Lisa J.; Kerkhof, Jennifer; Lucas, Christopher; Carey, Louise; French, Hugh; Rapadas, Melissa; Stevanovski, Igor; Deveson, Ira W.; Cliffe, Corrina; Elakis, George; Kirk, Edwin P.; Dudding-Byth, Tracy; Fletcher, Janice; Walsh, Rebecca; Corbett, Mark A.; Kroes, Thessa; Gecz, Jozef; Meldrum, Cliff; Cliffe, Simon; Wall, Meg; Lunke, Sebastian; North, Kathryn; Amor, David J.; Field, Michael; Sadikovic, Bekim; Buckley, Michael F.; O'Donnell-Luria, Anne; Roscioli, Tony
Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia
JOURNAL OF MEDICAL GENETICS
IF3.7
2023-11-303
OAAI
Hall, Hildegard Nikki; Parry, David; Halachev, Mihail; Williamson, Kathleen A.; Donnelly, Kevin; Campos Parada, Jose; Bhatia, Shipra; Joseph, Jeffrey; Holden, Simon; Prescott, Trine E.; Bitoun, Pierre; Kirk, Edwin P.; Newbury-Ecob, Ruth; Lachlan, Katherine; Bernar, Juan; van Heyningen, Veronica; Fitzpatrick, David R.; Meynert, Alison
The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation
JOURNAL OF PERSONALIZED MEDICINE
IF3
2022-10-2832
OAAI
Archibald, Alison D.; McClaren, Belinda J.; Caruana, Jade; Tutty, Erin; King, Emily A.; Halliday, Jane L.; Best, Stephanie; Kanga-Parabia, Anaita; Bennetts, Bruce H.; Cliffe, Corrina C.; Madelli, Evanthia O.; Ho, Gladys; Liebelt, Jan; Long, Janet C.; Braithwaite, Jeffrey; Kennedy, Jillian; Massie, John; Emery, Jon D.; McGaughran, Julie; Marum, Justine E.; Boggs, Kirsten; Barlow-Stewart, Kristine; Burnett, Leslie; Dive, Lisa; Freeman, Lucinda; Davis, Mark R.; Downes, Martin J.; Wallis, Mathew; Ferrie, Monica M.; Pachter, Nicholas; Scuffham, Paul A.; Casella, Rachael; Allcock, Richard J. N.; Ong, Royston; Edwards, Samantha; Righetti, Sarah; Lunke, Sebastian; Lewis, Sharon; Walker, Susan P.; Boughtwood, Tiffany F.; Hardy, Tristan; Newson, Ainsley J.; Kirk, Edwin P.; Laing, Nigel G.; Delatycki, Martin B.

研究方向

暂未获取到该数据
T
Tony Roscioli
H 指数:47论文数:215被引数:8,194
M
Martin B. Delatycki
H 指数:70论文数:525被引数:1.7万
R
Rani Sachdev
H 指数:25论文数:72被引数:2,267
M
Meredith Wilson
H 指数:50论文数:163被引数:1.1万
D
David S. Winlaw
H 指数:52论文数:383被引数:9,617
S
Sebastian Lunke
H 指数:38论文数:158被引数:4,889
N
Nigel G. Laing
H 指数:80论文数:1,233被引数:2.8万
Y
Ying Zhu
H 指数:32论文数:102被引数:3,975
M
Mark J. Cowley
H 指数:63论文数:409被引数:1.9万
R
Richard P. Harvey
H 指数:90论文数:400被引数:2.9万