Cas Simons

Garvan Institute of Medical Research

H指数:45

被引数:7,385

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Tandem repeat variation shapes immune cell type-specific gene expression

串联重复变异塑造免疫细胞类型特异性基因表达

Nature

IF48.5

2026-10-280

PRE

Hope A. Tanudisastro; Anna S. E. Cuomo; Ben Weisburd; Matthew Welland; Eleanor Spenceley; Michael Franklin; Angli Xue; Hao Lawrence Huang; Blake Bowen; Jianan Fan; Oscar A. Dong; Albert Henry; Peter C. Allen; Kristof Wing; Owen Tang; Michael Gray; Andre L. M. Reis; Jonathan Margoliash; Nehir E. Kurtas; Jeffrey M. Pullin; Arthur S. Lee; Harrison Brand; Michael Harper; Katalina Bobowik; Michael Silk; Amy Miniter; John Marshall; Vivian Bakiris; Bindu Swapna Madala; Caitlin Uren; Caitlin Bartie; Rachael A. McCloy; Anne Senabouth; Harriet Dashnow; Liam Fearnley; Alejandro Martin-Trujillo; Egor Dolzhenko; Zhen Qiao; Stuart M. Grieve; Tung Nguyen; Eyal Ben-David; Ling Chen; Kyle Kai-How Farh; Michael E. Talkowski; Stephen I. Alexander; Owen M. Siggs; Leonhard Gruenschloss; Hannah R. Nicholas; Jennifer Piscionere; Cas Simons; Chris Wallace; Melissa Gymrek; Ira W. Deveson; Alex W. Hewitt; Gemma A. Figtree; Katrina M. de Lange; Joseph E. Powell; Daniel G. MacArthur

Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval

阐明SET在9q34.11缺失综合征区间内作为神经发育障碍关键贡献者的作用

Clinical Genetics

IF2.3

2026-09-300

OAAI

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

The Evidence Aggregator: AI reasoning applied to rare disease diagnostics

证据聚合器：将人工智能推理应用于罕见病诊断

Genetics in Medicine

IF6.2

2026-05-270

PRE

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

2026-05-180

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

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

2026-04-080

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

2026-04-080

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

Non-coding structural variants disrupting conserved PITX2 enhancer loci in Axenfeld-Rieger syndrome

Axenfeld-Rieger综合征中破坏保守的PITX2增强子位点的非编码结构变异

European Journal of Human Genetics

IF4.6

2026-03-010

PRE

Biallelic variants in BCAT1 impair mitochondrial function and are associated with a candidate neurometabolic disorder

BCAT1基因的等位基因变异会损害线粒体功能，并与一种候选神经代谢性疾病相关联。

Human Genetics and Genomics Advances

IF3.6

2025-09-290

OAAI

Publisher Correction: Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes

出版更正：对R-环形成区域的分析鉴定出RNU2-2和RNU5B-1为神经发育障碍基因

Nature Genetics

IF0

2025-06-240

HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models

HCN2相关神经发育障碍：患者数据和爪蟾细胞模型数据

Annals of Neurology

IF7.7

2025-06-050

OAAI

Clara Houdayer MSc, MD; A. Marie Phillips PhD; Marie Chabbert PhD; Jennifer Bourreau BS; Reza Maroofian PhD; Henry Houlden MD; Kay Richards PhD; Nebal Waill Saadi MD; Eliška Dad'ová MS; Patrick Van Bogaert MD, PhD; Mailys Rupin MD; Boris Keren MD; Perrine Charles MD, PhD; Thomas Smol MD, PhD; Audrey Riquet MD; Lynn Pais MS; Anne O'Donnell-Luria MD, PhD; Grace E. VanNoy MS; Allan Bayat MD, PhD; Rikke S Møller PhD; Kern Olofsson MD; Rami Abou Jamra MD; Steffen Syrbe MD, PhD; Majed Dasouki MD; Laurie H. Seaver MD; Jennifer A. Sullivan MS; Vandana Shashi MBBS, MD; Fowzan S. Alkuraya MD; Alexis F. Poss MS; J. Edward Spence MD; Rhonda E. Schnur MD; Ian C. Forster PhD; Chaseley E. Mckenzie MS; Cas Simons PhD; Min Wang PhD; Penny Snell MGenCouns; Kavitha Kothur MD, PhD; Michael Buckley MD; Tony Roscioli MD, PhD; Noha Elserafy MD; Benjamin Dauriat MD; Vincent Procaccio MD, PhD; Daniel Henrion PharmD, PhD; Guy Lenaers PhD; Estelle Colin MD, PhD; Nienke E. Verbeek MD, PhD; Koen L. Van Gassen MD, PhD; Claire Legendre PhD; Dominique Bonneau MD, PhD; Christopher A. Reid PhD; Katherine B. Howell MBBS, PhD; Alban Ziegler MD, PhD; Christian Legros PhD

The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy

MOLECULAR GENETICS AND METABOLISM

IF3.5

2025-03-010

PRE

Gavazzi, Francesco; Charsar, Brittany; Hamilton, Eline; Erler, Jacqueline A.; Patel, Virali; Woidill, Sarah; Sevagamoorthy, Anjana; Helman, Guy; Schmidt, Johanna; Pizzino, Amy; Muirhead, Kayla; Takanohashi, Asako; Bonkowsky, Joshua L.; Meyerhoffer, Kelsee; Simons, Cas; Doi, Hiroshi; Satoko, Miyatake; Matsumoto, Naomichi; Delgado, Mauricio R.; Sanchez-Castillo, Meredith; Wang, Jingming; de Carvalho, Daniel Rocha; Tournev, Ivailo; Chamova, Teodora; Jordanova, Albena; Clegg, Nancy J.; Nicita, Francesco; Bertini, Enrico; Teng, Michelle; Williams, Dan; Tonduti, Davide; Houlden, Henry; Stellingwerff, Menno; Wassmer, Evangeline; Garcia-Cazorla, Angeles; Bernard, Genevieve; Mirchi, Amytice; Toutounchi, Helia; Wolf, Nicole I.; van der Knaap, Marjo S.; Shults, Justine; Adang, Laura A.; Vanderver, Adeline L.

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

2025-01-250

OAAI

A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing

MME中的深层内含子变体通过异常剪接导致常染色体隐性charcot-marie-tooth神经病

JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

IF3.2

2024-06-110

OAAI

Genomic Testing in Patients with Kidney Failure of an Unknown Cause A National Australian Study

CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

IF7.1

2024-05-032

OAAI

Mallawaarachchi, Amali C.; Fowles, Lindsay; Wardrop, Louise; Wood, Alasdair; O'Shea, Rosie; Biros, Erik; Harris, Trudie; Alexander, Stephen I.; Bodek, Simon; Boudville, Neil; Burke, Jo; Burnett, Leslie; Casauria, Sarah; Chadban, Steve; Chakera, Aron; Crafter, Sam; Dai, Pei; De Fazio, Paul; Faull, Randall; Honda, Andrew; Huntley, Vanessa; Jahan, Sadia; Jayasinghe, Kushani; Jose, Matthew; Leaver, Anna; Macshane, Mandi; Madelli, Evanthia Olympia; Nicholls, Kathy; Pawlowski, Rhonda; Rangan, Gopi; Snelling, Paul; Soraru, Jacqueline; Sundaram, Madhivanan; Tchan, Michel; Valente, Giulia; Wallis, Mathew; Wedd, Laura; Welland, Matthew; Whitlam, John; Wilkins, Ella J.; McCarthy, Hugh; Simons, Cas; Quinlan, Catherine; Patel, Chirag; Stark, Zornitza; Mallett, Andrew J.

Autosomal recessive BLOC1S1 variants cause a hypomyelinating leukodystrophy with epileptic encephalopathy

MOLECULAR GENETICS AND METABOLISM

IF3.5

2024-04-010

PRE

Germline mutations in a G protein identify signaling cross-talk in T cells

G蛋白配体生殖系突变确定了T细胞中的信号交叉对话

Science

IF45.8

2024-01-010

Hyoungjun Ham; Huie Jing; Ian T. Lamborn; Megan M. Kober; Alexey Koval; Yamina A. Berchiche; David Eric Anderson; Kirk M. Druey; Judith N. Mandl; Bertrand Isidor; Carlos R. Ferreira; Alexandra F. Freeman; Sundar Ganesan; Meliha Karsak; Peter Mustillo; Juliana Teo; Zarazuela Zolkipli‐Cunningham; Nicolas Chatron; François Lecoquierre; Andrew J. Oler; Jana Pachlopnik Schmid; Douglas Byron Kuhns; Xuehua Xu; Fabian H. Hauck; Waleed Al–Herz; Matias Wagner; Paulien A. Terhal; Mari Muurinen; Vincent Barlogis; Phillip Cruz; Jeffrey J. Danielson; Helen Stewart; Petra Loid; Sebastian Rading; Boris Keren; Rolph Pfundt; Kol A. Zarember; Katharina Vill; Lorraine Potocki; Kenneth N. Olivier; Gaëtan Lesca; Laurence Olivier Faivre; Melanie Wong; Anne Puel; Janet S. Chou; Maud Tusseau; Niki Maria Moutsopoulos; Helen F Matthews; Cas Simons; Ryan J. Taft; Ariane G. Soldatos; Etienne Masle‐Farquhar; Stefania Pittaluga; Robert Adrian Brink; Danielle L. Fink; Heidi H. Kong; Juraj Kabát; Woo Sung Kim; Tatjana Bierhals; Kazuyuki Meguro; Amy P. Hsu; Jingwen Gu; Jennifer L. Stoddard; Benito Baños-Piñero; Maria A. Slack; Giampaolo Trivellin; Benoît Mazel; Maarja Soomann; Samuel T. Li; Val J. Watts; Constantine A. Stratakis; Maria F. Rodriguez-Quevedo; Ange‐Line Bruel; Marita Lipsanen‐Nyman; Paul Saultier; Rashmi Jain; Daphné Lehalle; Daniel Torres; Kathleen E. Sullivan; S. Barbarot; Axel Dietmar Neu; Yannis Duffourd; Morgan N. Similuk; Kirsty M. McWalter; Pierre Blanc; Stéphane Bezieau; Tian Jin; Raif S. Geha; Jean‐Laurent Casanova; Outi Mäkitie; Christian Kubisch; Patrick Edery; John Christodoulou; Ronald N. Germain; Christopher Carl Goodnow; Thomas P. Sakmar; Daniel D. Billadeau; Sébastien Küry; Vladimir L. Katanaev; Yu Zhang; Michael J. Lenardo; Helen C. Su

Erythromelalgia caused by the missense mutation p.Arg220Pro in an alternatively spliced exon of SCN9A (NaV1.7)

HUMAN MOLECULAR GENETICS

IF3.2

2023-09-180

Integrated multi-omics for rapid rare disease diagnosis on a national scale

NATURE MEDICINE

IF50

2023-06-0835

OAAI

Lunke, Sebastian; Bouffler, Sophie. E. E.; Patel, Chirag. V. V.; Sandaradura, Sarah. A. A.; Wilson, Meredith; Pinner, Jason; Hunter, Matthew. F. F.; Barnett, Christopher. P. P.; Wallis, Mathew; Kamien, Benjamin; Tan, Tiong. Y. Y.; Freckmann, Mary-Louise; Chong, Belinda; Phelan, Dean; Francis, David; Kassahn, Karin. S. S.; Ha, Thuong; Gao, Song; Arts, Peer; Jackson, Matilda. R. S. R.; Scott, Hamish. S. S.; Eggers, Stefanie; Rowley, Simone; Boggs, Kirsten; Rakonjac, Ana; Brett, Gemma. R. R.; de Silva, Michelle. G. G.; Springer, Amanda; Ward, Michelle; Stallard, Kirsty; Simons, Cas; Conway, Thomas; Halman, Andreas; Van Bergen, Nicole. J. J.; Sikora, Tim; Semcesen, Liana. N. N.; Stroud, David. A. A.; Compton, Alison. G. G.; Thorburn, David. R. R.; Bell, Katrina. M. M.; Sadedin, Simon; North, Kathryn. N. N.; Christodoulou, John; Stark, Zornitza

Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease

HUMAN MOLECULAR GENETICS

IF3.2

2023-05-0317

Cas Simons

个人简介

教育背景

工作经历

荣誉奖项

研究方向