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S

Sebastian Lunke

Murdoch Children's Research Institute
H指数:38
被引数:4,876

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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
Automated reanalysis of genomic data for rare disease diagnostics at scale

大规模罕见疾病诊断的基因组数据自动化再分析

Nature Medicine
IF50
2026-06-240
OAAI
Matthew J. Welland; K. D. Ahlquist; Paul De Fazio; Christina Austin-Tse; Lynn Pais; Laura Wedd; Samantha Bryen; Rocio Rius; Michael Franklin; Caitlin Morrison; Giles Hall; Laura Gauthier; Alex Bloemendal; David I. Francis; Andrew J. Mallett; Amali Mallawaarachchi; Paul J. Lockhart; Richard Leventer; Ingrid E. Scheffer; Katherine B. Howell; Karin S. Kassahn; Hamish S. Scott; Julie McGaughran; John Christodoulou; David R. Thorburn; Bryony A. Thompson; Chirag V. Patel; Greg Smith; Anne O’Donnell-Luria; Simon Sadedin; Heidi L. Rehm; Sebastian Lunke; Jeremiah Wander; Kaitlin E. Samocha; Cas Simons; Daniel G. MacArthur; Zornitza Stark
KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severity

KCNQ2新生儿癫痫：及时诊断和治疗的影响，以及结局严重程度的早期预测因素

Epilepsia Open
IF2.9
2026-05-040
OAAI
Trupti Jadhav; Sophie E. Bouffler; Emily Innes; Michael Fahey; Matthew Hunter; Kavitha Kothur; Sebastian Lunke; Matthew Lynch; Emma Macdonald-Laurs; Elizabeth Emma Palmer; Chirag Patel; Jason Pinner; Kate Riney; Rani Sachdev; Sarah A. Sandaradura; Ingrid E. Scheffer; Zornitza Stark; Katherine B. Howell
Increased yield of genetic diagnoses in inherited heart diseases using expanded genome and RNA-splicing analyses

使用扩展基因组学和RNA剪接分析提高遗传性心脏病的基因诊断产量

Genetics in Medicine
IF6.2
2025-10-290
OAAI
Yuchen Chang; Emma M. Rath; Magdalena Soka; Emma S. Singer; Gunjan Trivedi; Charlotte Burns; Rachel Austin; Tiffany Boughtwood; Jaye S. Brown; Sarah Casauria; Belinda Chong; Jasmina Cvetkovska; Sally L. Dunwoodie; Sebastian Lunke; Tessa Mattiske; Julie McGaughran; Sarah-Jane Pantaleo; Michael C.J. Quinn; Chris Semsarian; Ivan Macciocca; Jodie Ingles; Diane Fatkin; Eleni Giannoulatou; Richard D. Bagnall
Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening study

可行性、可接受性及BabyScreen+基因组新生儿筛查研究的临床结果

Nature Medicine
IF50
2025-10-090
OAAI
Sebastian Lunke; Lilian Downie; Jade Caruana; Nathasha Kugenthiran; Paul De Fazio; Sebastian Hollizeck; Sophie E. Bouffler; David J. Amor; Alison D. Archibald; Yvonne Bombard; John Christodoulou; Marc Clausen; Wendy Fagan; Clara Gaff; Ronda F. Greaves; Christopher Gyngell; Anaita Kanga-Parabia; Nitzan Lang; Crystle Lee; Fiona Lynch; Anthony Marty; Melanie Marty; Candice McGregor; Jessica Riseley; Simon Sadedin; Katrina Scarff; Michelle da Cunha Torres; Erin Tutty; Ching Vang; Meaghan Wall; Ee Ming Wong; Alison Yeung; Ilias Goranitis; Stephanie Best; Danya F. Vears; Zornitza Stark
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
Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencing
GENETICS IN MEDICINE
IF6.2
2025-01-010
PRE
Ball, Megan; Bouffer, Sophie E.; Barnett, Christopher B.; Freckmann, Mary-Louise; Hunter, Matthew F.; Kamien, Benjamin; Kassahn, Karin S.; Lunke, Sebastian; Patel, Chirag, V; Pinner, Jason; Roscioli, Tony; Sandaradura, Sarah A.; Scott, Hamish S.; Tan, Tiong Y.; Wallis, Mathew; Compton, Alison G.; Thorburn, David R.; Stark, Zornitza; Christodoulou, John
Epigenomic newborn screening for conditions with intellectual disability and autistic features in Australian newborns

表观基因组新生儿筛查澳大利亚新生儿的智力障碍和自闭症特征

EPIGENOMICS
IF2.6
2024-10-041
OAAI
Alshawsh, Mohammed; Wake, Melissa; Gecz, Jozef; Corbett, Mark; Saffery, Richard; Pitt, James; Greaves, Ronda; Williams, Katrina; Field, Michael; Cheong, Jeanie; Bui, Minh; Arora, Sheena; Sadedin, Simon; Lunke, Sebastian; Wall, Meg; Amor, David J.; Godler, David E.
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.

研究方向

暂未获取到该数据
Z
Zornitza Stark
H 指数:52论文数:339被引数:1.1万
C
Clara Gaff
H 指数:47论文数:249被引数:9,975
J
John Christodoulou
H 指数:77论文数:540被引数:2.7万
T
Tiong Yang Tan
H 指数:48论文数:198被引数:1.0万
S
Stephanie Best
H 指数:29论文数:203被引数:2,962
L
Lilian Downie
H 指数:21论文数:72被引数:2,115
S
Susan M. White
H 指数:55论文数:277被引数:9,981
M
Melissa Martyn
H 指数:23论文数:78被引数:1,772
M
Matthew F. Hunter
H 指数:25论文数:74被引数:3,295
I
Ilias Goranitis
H 指数:28论文数:144被引数:2,205