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L

Lilian Downie

Murdoch Children's Research Institute
H指数:21
被引数:2,137

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荣誉奖项

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Global Recommendations for the Use of Diagnostic Genomic Sequencing in the Prenatal Setting on Behalf of the ESHG and ISPD

代表欧洲人类遗传学会（ESHG）和围产期诊断国际学会（ISPD）就产前诊断基因组测序的应用提出全球建议

Prenatal Diagnosis
IF2.7
2026-09-220
OAAI
Zandra C. Deans; Lina Basel Salmon; Kwong Wai Choy; Guido de Wert; Zirui Dong; Lilian Downie; Francesca Romana Grati; Sabine Hentze; Paula Jorge; Brynn Levy; Luca Lovrecic; Dora Mayen; Álvaro Mendes; Michael Morris; Ashley Pritchard; Raquel Gouveia Silva; Tina-Marié Wessels; Francesca Forzano; Natalie J. Chandler
Global recommendations for the use of diagnostic genomic sequencing in the prenatal setting on behalf of the ESHG and ISPD

代表欧洲人类遗传学会（ESHG）和国际产前诊断学会（ISPD）提出的产前诊断基因组测序应用全球建议

European Journal of Human Genetics
IF4.6
2026-09-160
OAAI
Zandra C. Deans; Lina Basel Salmon; Kwong Wai Choy; Guido de Wert; Zirui Dong; Lilian Downie; Francesca Romana Grati; Sabine Hentze; Paula Jorge; Brynn Levy; Luca Lovrecic; Dora Mayen; Álvaro Mendes; Michael Morris; Ashley Pritchard; Raquel Gouveia Silva; Tina-Marié Wessels; Francesca Forzano; Natalie J. Chandler
Operationalizing the Wilson-Jungner principles for the genomics era: Consensus recommendations from the International Consortium on Newborn Sequencing

将Wilson-Jungner原则应用于基因组学时代：新生儿测序国际联盟的共识建议

Genetics in Medicine
IF6.2
2025-10-240
PRE
Lilian Downie; Julie Yeo; Thomas Minten; Rose Heald; Derek Ansel; Mei Baker; Jorune Balciuniene; Jonathan S. Berg; François Boemer; Wendy K. Chung; Heidi L. Cope; David J. Eckstein; Nicolas Encina; Laurence Faivre; Alessandra Ferlini; Judit García-Villoria; Michael H. Gelb; José Manuel González De Aledo-Castillo; Katie Golden-Grant; Richard B. Parad; Nidhi Shah; Zornitza Stark; Kristen L. Sund; Petros Tsipouras; Meekai To; David Bick; Robert C. Green; Nina B. Gold
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
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias (vol 25, 100927, 2023)
GENETICS IN MEDICINE
IF6.2
2023-11-011
OA
Harms, Frederike L.; Dingemans, Alexander J. M.; Hempel, Maja; Pfundt, Rolph; Bierhals, Tatjana; Casar, Christian; Mueller, Christian; Niermeijer, Jikke-Mien F.; Fischer, Jan; Jahn, Arne; Huebner, Christoph; Majore, Silvia; Agolini, Emanuele; Novelli, Antonio; van der Smagt, Jasper; Ernst, Robert; van Binsbergen, Ellen; Mancini, Grazia M. S.; van Slegtenhorst, Marjon; Barakat, Tahsin Stefan; Wakeling, Emma L.; Kamath, Arveen; Downie, Lilian; Pais, Lynn; White, Susan M.; de Vries, Bert B. A.; Kutsche, Kerstin
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias
GENETICS IN MEDICINE
IF6.2
2023-10-012
PRE
Harms, Frederike L.; Dingemans, Alexander J. M.; Hempel, Maja; Pfundt, Rolph; Bierhals, Tatjana; Casar, Christian; Mueller, Christian; Niermeijer, Jikke-Mien F.; Fischer, Jan; Jahn, Arne; Huebner, Christoph; Majore, Silvia; Agolini, Emanuele; Novelli, Antonio; Van der Smagt, Jasper; Ernst, Robert; Van Binsbergen, Ellen; Mancini, Grazia M. S.; Van Slegtenhorst, Marjon; Barakat, Tahsin S.; Wakeling, Emma L.; Kamath, Arveen; Downie, Lilian; Pais, Lynn; White, Susan M.; de Vries, Bert B. A.; Kutsche, Kerstin
Feasibility of Targeted Next-Generation DNA Sequencing for Expanding Population Newborn Screening
CLINICAL CHEMISTRY
IF6.3
2023-07-142
PRE
Shum, Bennett Oh Vic; Pretorius, Carel Jacobus; Sng, Letitia Min Fen; Henner, Ilya; Barahona, Paulette; Basar, Emre; McGill, Jim; Wilgen, Urs; Zournazi, Anna; Downie, Lilian; Taylor, Natalie; Cheney, Liam; Wu, Sylvania; Twine, Natalie Angela; Bauer, Denis Carolin; Watts, Gerald Francis; Navilebasappa, Akash; Kumar, Kishore Rajagopal; Ungerer, Jacobus Petrus Johannes; Bennett, Glenn
Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development(jan, 10.1038/s41380022-01764-8, 2023)
MOLECULAR PSYCHIATRY
IF10.1
2023-01-192
OAAI
Kaspi, Antony; Hildebrand, Michael S.; Jackson, Victoria E.; Braden, Ruth; van Reyk, Olivia; Howell, Tegan; Debono, Simone; Lauretta, Mariana; Morison, Lottie; Coleman, Matthew J.; Webster, Richard; Coman, David; Goel, Himanshu; Wallis, Mathew; Dabscheck, Gabriel; Downie, Lilian; Baker, Emma K.; Parry-Fielder, Bronwyn; Ballard, Kirrie; Harrold, Eva; Ziegenfusz, Shaun; Bennett, Mark F.; Robertson, Erandee; Wang, Longfei; Boys, Amber; Fisher, Simon E.; Amor, David J.; Scheffer, Ingrid E.; Bahlo, Melanie; Morgan, Angela T.
Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2022-11-297
OAAI
Francis, David I.; Stark, Zornitza; Scheffer, Ingrid E.; Tan, Tiong Yang; Murali, Krithika; Gallacher, Lyndon; Amor, David J.; Goel, Himanshu; Downie, Lilian; Stutterd, Chloe A.; Krzesinski, Emma I.; Vasudevan, Anand; Oertel, Ralph; Petrovic, Vida; Boys, Amber; Wei, Vivian; Burgess, Trent; Dun, Karen; Oliver, Karen L.; Baxter, Anne; Hackett, Anna; Ayres, Samantha; Lunke, Sebastian; Kalitsis, Paul; Wall, Meaghan
Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development
MOLECULAR PSYCHIATRY
IF10.1
2022-09-1821
OAAI
Kaspi, Antony; Hildebrand, Michael S.; Jackson, Victoria E.; Braden, Ruth; van Reyk, Olivia; Howell, Tegan; Debono, Simone; Lauretta, Mariana; Morison, Lottie; Coleman, Matthew J.; Webster, Richard; Coman, David; Goel, Himanshu; Wallis, Mathew; Dabscheck, Gabriel; Downie, Lilian; Baker, Emma K.; Parry-Fielder, Bronwyn; Ballard, Kirrie; Harrold, Eva; Ziegenfusz, Shaun; Bennett, Mark F.; Robertson, Erandee; Wang, Longfei; Boys, Amber; Fisher, Simon E.; Amor, David J.; Scheffer, Ingrid E.; Bahlo, Melanie; Morgan, Angela T.

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
S
Sebastian Lunke
H 指数:38论文数:158被引数:4,919
D
David J. Amor
H 指数:72论文数:504被引数:2.0万
C
Clara Gaff
H 指数:47论文数:249被引数:1.0万
A
Alison D. Archibald
H 指数:29论文数:93被引数:2,154
S
Susan M. White
H 指数:55论文数:277被引数:1.0万
A
Alison Yeung
H 指数:25论文数:73被引数:3,521
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:2,993
I
Ilias Goranitis
H 指数:28论文数:144被引数:2,232