Richard J. Leventer - Publications, H-index & Citations

Richard J. Leventer

murdoch children's research institute

64H指数

250论文数

1.2W被引数

收录论文 125

发表时间

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

2026-06-24

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

Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes 作者更正：非编码RNA基因RNU4-2中的biallelic变异导致一种具有独特白质变化的隐性神经发育综合征

Nature Genetics

IF29

2026-05-18

OAAI

Rocio Rius; Alexander J. M. Blakes; Yuyang Chen; Joachim De Jonghe; François Lecoquierre; Ruebena Dawes; Benjamin Cogne; Hyung Chul Kim; Javeria R. Alvi; Florence Amblard; Morad Ansari; Annabelle Arlt; Christina Austin-Tse; Sarah Baer; Meena Balasubramanian; Elsa V. Balton; Giulia Barcia; Ana Beleza-Meireles; Jonathan A. Bernstein; Jasmin Beygo; Pierre Blanc; Nuria C. Bramswig; Frederik Braun; Daniel Buchzik; Daniel G. Calame; Jamie Campbell; Charles Coutton; Chloe A. Cunningham; Nitsuh Dargie; Christel Depienne; Katrina M. Dipple; Anne Dieux; Abhijit Dixit; Lauren Dreyer; Haowei Du; Salima El Chehadeh; Michael Field; Lisa J. Ewans; Vanessa Geiger; Richard A. Gibbs; Ian Glass; Olivier Grunewald; Paul Gueguen; Tobias B. Haack; Hamza Hadj Abdallah; Radu Harbuz; Ingo Helbig; Judit Horvath; Alexander Hustinx; Bertrand Isidor; Marie-Line Jacquemont; Fraser Jamie; Médéric Jeanne; Riley Kessler; Hannah Klinkhammer; G. Christoph Korenke; Urania Kotzaeridou; Peter Krawitz; Steven Laurie; Richard J. Leventer; Rebecca J. Levy; James R. Lupski; Pierre Marijon; Kaitlin E. McGinnis; Rodrigo Mendez; Olfa Messaoud; Caroline Nava; Mevyn Nizard; Anne O’Donnell-Luria; Melanie C. O’Leary; Simone Olivieri; Amitav Parida; Davut Pehlivan; Anna Jenne Prentice; Jennifer E. Posey; Chloe M. Reuter; Véronique Satre; Caroline Schluth-Bolard; Thomas Smol; Tipu Sultan; John Taylor; Christel Thauvin-Robinet; Julien Thevenon; Eloise Uebergang; Sandra Ueberberg; Catherine Vincent-Delorme; Evangeline Wassmer; Emma Westwood; Matthew T. Wheeler; Elif Yilmaz Gulec; Adeline Vanderver; Arastoo Vossough; Stephan J. Sanders; Siddharth Banka; Gregory M. Findlay; Daniel G. MacArthur; Cas Simons; Nicola Whiffin

A severe neurodevelopmental syndrome linked to a South Asian founder variant in the UFMylation adaptor CDK5RAP3 与泛素化适配器CDK5RAP3中南亚奠基者变异相关的严重神经发育综合征

Acta Neuropathologica

IF9.3

2026-04-27

OAAI

Michaela Yuen; Katharine Zhang; Rhett G. Marchant; Ryosuke Ishimura; Mark Graham; May Aung-Htut; Samantha Bryen; Rocio Rius; Lee Marshall; Nader Aryamanesh; Gregory Dziaduch; Himanshu Joshi; Ben Weisburd; Steve D. Wilton; Meredith Wilson; Russell Gear; Lucy Hennington; Stephanie Lau; Helen Doyle; Michael Krivanek; Richard J. Leventer; Susan M. White; Sarah A. Sandaradura; Masaaki Komatsu; Frances J. Evesson; Sandra T. Cooper

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes RNU4-2非编码RNA基因的双等位基因变异导致一种具有独特白质变化的隐性神经发育综合征。

Nature Genetics

IF29

2026-04-08

OAAI

Rocio Rius; Alexander J. M. Blakes; Yuyang Chen; Joachim De Jonghe; François Lecoquierre; Ruebena Dawes; Benjamin Cogne; Hyung Chul Kim; Javeria R. Alvi; Florence Amblard; Morad Ansari; Annabelle Arlt; Christina Austin-Tse; Sarah Baer; Meena Balasubramanian; Elsa V. Balton; Giulia Barcia; Ana Beleza-Meireles; Jonathan A. Bernstein; Jasmin Beygo; Pierre Blanc; Nuria C. Bramswig; Frederik Braun; Daniel Buchzik; Daniel G. Calame; Jamie Campbell; Charles Coutton; Chloe A. Cunningham; Nitsuh Dargie; Christel Depienne; Katrina M. Dipple; Anne Dieux; Abhijit Dixit; Lauren Dreyer; Haowei Du; Salima El Chehadeh; Michael Field; Lisa J. Ewans; Vanessa Geiger; Richard A. Gibbs; Ian Glass; Olivier Grunewald; Paul Gueguen; Tobias B. Haack; Hamza Hadj Abdallah; Radu Harbuz; Ingo Helbig; Judit Horvath; Alexander Hustinx; Bertrand Isidor; Marie-Line Jacquemont; Fraser Jamie; Médéric Jeanne; Riley Kessler; Hannah Klinkhammer; G. Christoph Korenke; Urania Kotzaeridou; Peter Krawitz; Steven Laurie; Richard J. Leventer; Rebecca J. Levy; James R. Lupski; Pierre Marijon; Kaitlin E. McGinnis; Rodrigo Mendez; Olfa Messaoud; Caroline Nava; Mevyn Nizard; Anne O’Donnell-Luria; Melanie C. O’Leary; Simone Olivieri; Amitav Parida; Davut Pehlivan; Anna Jenne Prentice; Jennifer E. Posey; Chloe M. Reuter; Véronique Satre; Caroline Schluth-Bolard; Thomas Smol; Tipu Sultan; John Taylor; Christel Thauvin-Robinetvin; Julien Thevenon; Eloise Uebergang; Sandra Ueberberg; Catherine Vincent-Delorme; Evangeline Wassmer; Emma Westwood; Matthew T. Wheeler; Elif Yilmaz Gulec; Adeline Vanderver; Arastoo Vossough; Stephan J. Sanders; Siddharth Banka; Gregory M. Findlay; Daniel G. MacArthur; Cas Simons; Nicola Whiffin

Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders RNU4-2的饱和编辑揭示了不同的显性和隐性障碍

Nature

IF48.5

2026-04-08

OAAI

Joachim De Jonghe; Hyung Chul Kim; Ayanfeoluwa Adedeji; Elsa Leitão; Ruebena Dawes; Christina M. Kajba; Benjamin Cogné; Yuyang Chen; Alexander J. M. Blakes; Cas Simons; Rocio Rius; Javeria R. Alvi; Florence Amblard; Christina Austin-Tse; Sarah Baer; Elsa V. Balton; Pierre Blanc; Daniel G. Calame; Charles Coutton; Chloe A. Cunningham; Nitsuh Dargie; Katrina M. Dipple; Haowei Du; Salima El Chehadeh; Ian Glass; Joseph G. Gleeson; Olivier Grunewald; Paul Gueguen; Radu Harbuz; Marie-Line Jacquemont; Richard J. Leventer; Pierre Marijon; Olfa Messaoud; Tipu Sultan; Christel Thauvin; Catherine Vincent-Delorme; Elif Yilmaz Gulec; Julien Thevenon; Rodrigo Mendez; Daniel G. MacArthur; Christel Depienne; Caroline Nava; Nicola Whiffin; Gregory M. Findlay

Bilateral frontal periventricular nodular heterotopia: a distinctive cortical malformation 双侧额叶室管膜下结节性异位：一种独特的皮层畸形

European Journal of Paediatric Neurology

IF2.3

2025-12-01

PREAI

Hoogwijs, Ine; Mandelstam, Simone A.; Mcgillivray, George; Halliday, Benjamin J.; Yiu, Eppie M.; Macdonald-Laurs, Emma; Perry, David; Patel, Rakesh; Gabbett, Michael; Patel, Chirag; Malone, Stephen; Fahey, Michael; Gill, Deepak; Field, Mike; Delatycki, Martin B.; Mohammad, Shekeeb; Berkovic, Samuel F.; Scheffer, Ingrid E.; Lockhart, Paul J.; Jackson, Graeme D.; Jansen, Anna C.; Robertson, Stephen P.; Leventer, Richard J.

A clinical and genotype-phenotype analysis of MACF1 variants MACF1变异的临床与基因型-表型分析

The American Journal of Human Genetics

IF0

2025-09-08

PREAI

Jordy Dekker; Rachel Schot; Kimberly A. Aldinger; David B. Everman; Camerun Washington; Julie R. Jones; Jennifer A. Sullivan; Rebecca C. Spillmann; Vandana Shashi; Antonio Vitobello; Anne-Sophie Denommé-Pichon; Anne-Laure Mosca-Boidron; Laurence Perrin; Stéphane Auvin; Maha S. Zaki; Joseph G. Gleeson; Naomi Meave; Cassidy Wallace; Sophie Nambot; Julian Delanne; Sarah M. Ruggiero; Ingo Helbig; Mark P. Fitzgerald; Richard J. Leventer; Dorothy K. Grange; Emanuela Argilli; Elliott H. Sherr; Supraja Prakash; Derek E. Neilson; Francesco Nicita; Antonella Sferra; Enrico S. Bertini; Chiara Aiello; Knut Brockmann; Alexander B. Kuranov; Silke Kaulfuss; Sulman Basit; Majed Alluqmani; Ahmad Almatrafi; Jan M. Friedman; Colleen Guimond; Faruq Mohammed; Pooja Sharma; Divya Goel; Thomas Wirth; Mathieu Anheim; Paulina Bahena; Asuman Koparir; Konstantinos Kolokotronis; Barbara Vona; Thomas Haaf; Erdmute Kunstmann; Reza Maroofian; Henrike L. Sczakiel; Felix Boschann; Mala Misra-Isrie; Raymond J. Louie; Elliot S. Stolerman; Pedro A. Sanchez-Lara; Sandra Mergler; Renske Oegema; Yuri A. Zarate; Ariana Kariminejad; Homa Tajsharghi; Shimriet Zeidler; Anneke J.A. Kievit; Arjan Bouman; Gerarda Cappuccio; Nicola Brunetti-Pierri; Kyra E. Stuurman; Dayna Morel Swols; Mustafa Tekin; Jariya Upadia; Donna M. Martin; Daniel Craven; Susan M. Hiatt; Laura A. van de Pol; Felice D'Arco; Henri Margot; Martina Wilke; Soheil Yousefi; Tahsin Stefan Barakat; Monique M. van Veghel-Plandsoen; Eleonora Aronica; Jasper Anink; Stephen L. Rogers; Kevin C. Slep; Dan Doherty; William B. Dobyns; Grazia M.S. Mancini

Structural mediation of the default-mode network in children with callosal agenesis 胼胝体缺失儿童默认模式网络的结构介导

Cerebral Cortex

IF2.9

2025-07-01

OAAI

Provins, Celine; Tarun Nahalka, Anjali; Schmidt, Lea; Anderson, Vicki; McIlroy, Alissandra; Wood, Amanda; Esteban, Oscar; Leventer, Richard; Spencer-Smith, Megan; van de Ville, Dimitri; Siffredi, Vanessa

The genetic landscape and classification of infantile epileptic spasms syndrome requiring surgery due to suspected focal brain malformations 由于怀疑局灶性脑畸形而需要手术的婴儿癫痫痉挛综合征的遗传景观和分类

BRAIN COMMUNICATIONS

IF4.5

2025-01-25

OAAI

Coleman, Matthew; Wang, Min; Snell, Penny; Lee, Wei Shern; D'Arcy, Colleen; Mignone, Cristina; Pope, Kate; Gillies, Greta; Maixner, Wirginia; Wray, Alison; Harvey, A. Simon; Simons, Cas; Leventer, Richard J.; Stephenson, Sarah E. M.; Lockhart, Paul J.; Howell, Katherine B.

Inherited PURA Pathogenic Variant Associated With a Mild Neurodevelopmental Disorder 与轻度神经发育障碍相关的遗传性PURA致病变体

NEUROLOGY-GENETICS

IF3.7

2024-10-01

OAAI

Hildebrand, Michael S.; Braden, Ruth O.; Lauretta, Mariana L.; Kaspi, Antony; Leventer, Richard J.; Anderson, Melinda; Goel, Himanshu; Bahlo, Melanie; Scheffer, Ingrid E.; Amor, David J.; Janowski, Robert; Niessing, Dierk; Morgan, Angela T.

Slc35a2 mosaic knockout impacts cortical development, dendritic arborisation, and neuronal firing Slc35a2马赛克基因敲除影响皮质发育，树突化和神经元放电

NEUROBIOLOGY OF DISEASE

IF5.6

2024-10-01

OAAI

Spyrou, James; Aung, Khaing Phyu; Vanyai, Hannah; Leventer, Richard J.; Maljevic, Snezana; Lockhart, Paul J.; Howell, Katherine B.; Reid, Christopher A.

Anything is better than nothing': exploring attitudes towards novel therapies in leukodystrophy clinical trials

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2024-09-05

OAAI

Wilson, Ella; Leventer, Richard; Cunningham, Chloe; de Silva, Michelle G.; Hodgson, Jan; Uebergang, Eloise

Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS)

ANNALS OF NEUROLOGY

IF7.7

2024-08-02

OAAI

Viswanathan, Sindhu; Oliver, Karen L.; Regan, Brigid M.; Schneider, Amy L.; Myers, Candace T.; Mehaffey, Michele G.; LaCroix, Amy J.; Antony, Jayne; Webster, Richard; Cardamone, Michael; Subramanian, Gopinath M.; Chiu, Annie T. G.; Roza, Eugenia; Teleanu, Raluca I.; Malone, Stephen; Leventer, Richard J.; Gill, Deepak; Berkovic, Samuel F.; Hildebrand, Michael S.; Goad, Beatrice S.; Howell, Katherine B.; Symonds, Joseph D.; Brunklaus, Andreas; Sadleir, Lynette G.; Zuberi, Sameer M.; Mefford, Heather C.; Scheffer, Ingrid E.

Ectopic HCN4 Provides a Target Biomarker for the Genetic Spectrum of mTORopathies

NEUROLOGY-GENETICS

IF3.7

2024-04-01

OAAI

Coleman, Matthew; Pinares-Garcia, Paulo; Stephenson, Sarah E.; Lee, Wei Shern; Kooshavar, Daniz; Mclean, Catriona A.; Howell, Katherine B.; Leventer, Richard J.; Reid, Christopher A.; Lockhart, Paul J.

Why did my seizures start now? Influences of lesion connectivity and genetic etiology on age at seizure onset in focal epilepsy 为什么我现在开始发作？病灶连通性和遗传病因对局灶性癫痫发作年龄的影响

EPILEPSIA

IF6.6

2024-03-15

OAAI

Macdonald-Laurs, Emma; Warren, Aaron E. L.; Leventer, Richard J.; Harvey, A. Simon

Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations 外显子组测序的诊断效用，然后对人脑畸形进行研究再分析

BRAIN COMMUNICATIONS

IF4.5

2024-02-28

OAAI

Kooshavar, Daniz; Amor, David J.; Boggs, Kirsten; Baker, Naomi; Barnett, Christopher; de Silva, Michelle G.; Edwards, Samantha; Fahey, Michael C.; Marum, Justine E.; Snell, Penny; Bozaoglu, Kiymet; Pope, Kate; Mohammad, Shekeeb S.; Riney, Kate; Sachdev, Rani; Scheffer, Ingrid E.; Schenscher, Sarah; Silberstein, John; Smith, Nicholas; Tom, Melanie; Ware, Tyson L.; Lockhart, Paul J.; Leventer, Richard J.

The clinical, imaging, pathological and genetic landscape of bottom-of-sulcus dysplasia 沟底发育不良的临床、影像学、病理及遗传学研究

BRAIN

IF11.7

2023-11-06

PREAI

Macdonald-Laurs, Emma; Warren, Aaron E. L.; Francis, Peter; Mandelstam, Simone A.; Lee, Wei Shern; Coleman, Matthew; Stephenson, Sarah E. M.; Barton, Sarah; D'Arcy, Colleen; Lockhart, Paul J.; Leventer, Richard J.; Harvey, A. Simon

Pathogenic RHEB Somatic Variant in a Child With Tuberous Sclerosis Complex Without Pathogenic Variants in TSC1 or TSC2

NEUROLOGY

IF8.5

2023-07-11

OAAI

Lee, Wei Shern; Macdonald-Laurs, Emma; Stephenson, Sarah; D'Arcy, Colleen; Maixner, Wirginia; Harvey, A. Simon; Lockhart, Paul J. J.; Leventer, Richard J. J.

WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk WWOX发育性和癫痫性脑病: 了解癫痫和死亡风险

EPILEPSIA

IF6.6

2023-03-11

OAAI

Oliver, Karen L.; Trivisano, Marina; Mandelstam, Simone A.; De Dominicis, Angela; Francis, David I.; Green, Timothy E.; Muir, Alison M.; Chowdhary, Apoorva; Hertzberg, Christoph; Goldhahn, Klaus; Metreau, Julia; Prager, Christine; Pinner, Jason; Cardamone, Michael; Myers, Kenneth A.; Leventer, Richard J.; Lesca, Gaetan; Bahlo, Melanie; Hildebrand, Michael S.; Mefford, Heather C.; Kaindl, Angela M.; Specchio, Nicola; Scheffer, Ingrid E.

Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare 澳大利亚基因组学: 一项为期5年的国家计划的成果，以加速基因组学在医疗保健中的整合

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2023-03-01

OAAI

Stark, Zornitza; Boughtwood, Tiffany; Haas, Matilda; Braithwaite, Jeffrey; Gaff, Clara L.; Goranitis, Ilias; Spurdle, Amanda B.; Hansen, David P.; Hofmann, Oliver; Laing, Nigel; Metcalfe, Sylvia; Newson, Ainsley J.; Scott, Hamish S.; Thorne, Natalie; Ward, Robyn L.; Dinger, Marcel E.; Best, Stephanie; Long, Janet C.; Grimmond, Sean M.; Pearson, John; Waddell, Nicola; Barnett, Christopher P.; Cook, Matthew; Field, Michael; Fielding, David; Fox, Stephen B.; Gecz, Jozef; Jaffe, Adam; Leventer, Richard J.; Lockhart, Paul J.; Lunke, Sebastian; Mallett, Andrew J.; McGaughran, Julie; Mileshkin, Linda; Nones, Katia; Roscioli, Tony; Scheffer, Ingrid E.; Semsarian, Christopher; Simons, Cas; Thomas, David M.; Thorburn, David R.; Tothill, Richard; White, Deborah; Dunwoodie, Sally; Simpson, Peter T.; Phillips, Peta; Brion, Marie-Jo; Finlay, Keri; Quinn, Michael CJ.; Mattiske, Tessa; Tudini, Emma; Boggs, Kirsten; Murray, Sean; Wells, Kathy; Cannings, John; Sinclair, Andrew H.; Christodoulou, John; North, Kathryn N.

研究方向