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Cas Simons

garvan institute of medical research and unsw sydney

45H-index
179Paper Count
7.4KCitation Count
Published Papers 85
Publication Date
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Automated reanalysis of genomic data for rare disease diagnostics at scale
errNature Medicine
IF50
err2026-06-24
err0
errOAAI
errMatthew 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
errShare
errSave
The Evidence Aggregator: AI reasoning applied to rare disease diagnostics
errGenetics in Medicine
IF6.2
err2026-05-27
err0
PREAI
errHope Twede; Lynn Pais; Samantha Bryen; Emily O’Heir; Greg Smith; Ron Paulsen; Christina A. Austin-Tse; Alex Bloemendal; Cas Simons; Amanda K. Hall; Scott Saponas; Miah Wander; Daniel G. MacArthur; Heidi L. Rehm; Ashley Mae Conard
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errSave
Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
errNature Genetics
IF29
err2026-05-18
err0
errOAAI
errRocio 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
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errSave
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
errNature Genetics
IF29
err2026-04-08
err0
errOAAI
errRocio 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
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errSave
Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders
errNature
IF48.5
err2026-04-08
err0
errOAAI
errJoachim 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
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Non-coding structural variants disrupting conserved PITX2 enhancer loci in Axenfeld-Rieger syndrome
errEuropean Journal of Human Genetics
IF4.6
err2026-03-01
err0
PREAI
errMitchell, Lucas A.; Schmidt, Joshua; Souzeau, Emmanuelle; Knight, Lachlan S. W.; Maxwell, Giorgina; Dubowsky, Andrew; Lim, Ridia; Formaini, Edward; Welland, Matthew; Simons, Cas; Macarthur, Daniel G.; Wiggs, Janey L.; Craig, Jamie E.; Siggs, Owen M.
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Biallelic variants in BCAT1 impair mitochondrial function and are associated with a candidate neurometabolic disorder
errHuman Genetics and Genomics Advances
IF3.6
err2025-09-29
err0
errOAAI
errBrianna L. DiSanza; Giulia S. Porcari; Livia Sertori Finoti; Leonardo Ramos-Rodriguez; Devin M. Burris; Justin A. McDonough; Gang Ning; Grace Fagan; Guy T. Helman; Erin Weiss; Ryan J. Taft; Amy Pizzino; Matthew T. Whitehead; Amy Waldman; Cas Simons; Xilma Ortiz-Gonzalez; William C. Skarnes; Adeline Vanderver; Elizabeth J. Bhoj; Rebecca C. Ahrens-Nicklas
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Publisher Correction: Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes
errNature Genetics
IF0
err2025-06-24
err0
errOAAI
errAdam Jackson; Nishi Thaker; Alexander Blakes; Gillian Rice; Sam Griffiths-Jones; Meena Balasubramanian; Jennifer Campbell; Nora Shannon; Jungmin Choi; Juhyeon Hong; David Hunt; Anna de Burca; Soo Yeon Kim; Taekeun Kim; Seungbok Lee; Melody Redman; Rocio Rius; Cas Simons; Tiong Yang Tan; Jamie Ellingford; Raymond T. O’Keefe; Jong Hee Chae; Siddharth Banka
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errSave
HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models
errAnnals of Neurology
IF7.7
err2025-06-05
err0
errOAAI
errClara 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
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The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-03-01
err0
PREAI
errGavazzi, 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.
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The genetic landscape and classification of infantile epileptic spasms syndrome requiring surgery due to suspected focal brain malformations
errBRAIN COMMUNICATIONS
IF4.5
err2025-01-25
err0
errOAAI
errColeman, 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.
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errSave
A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing
errJOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
IF3.2
err2024-06-11
err0
errOAAI
errGrosz, Bianca R.; Parmar, Jevin M.; Ellis, Melina; Bryen, Samantha; Simons, Cas; Reis, Andre L. M.; Stevanovski, Igor; Deveson, Ira W.; Nicholson, Garth; Laing, Nigel; Wallis, Mathew; Ravenscroft, Gianina; Kumar, Kishore R.; Vucic, Steve; Kennerson, Marina L.
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Genomic Testing in Patients with Kidney Failure of an Unknown Cause A National Australian Study
errCLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
IF7.1
err2024-05-03
err2
errOAAI
errMallawaarachchi, 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.
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errSave
Autosomal recessive BLOC1S1 variants cause a hypomyelinating leukodystrophy with epileptic encephalopathy
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-04-01
err0
PREAI
errGonzalez, Carlos Dominguez; Sanderson, Leslie E.; Depace, Raffaella; Helman, Guy; Wu, Kaiyuan; Disanza, Brianna; Pizzino, Amy; Schmidt, Johanna; Muirhead, Kayla; Bonkowsky, Joshua; Taft, Ryan; Sannaa, Nouriya; Dias, Patricia; Mutlu, Mehmet Burak; Bertoli-Avella, Aida M.; Maroofian, Reza; Barakat, Tahsin Stefan; Bhoj, Elizabeth; Ahrens-Nicklas, Rebecca; Simons, Cas; Wolvetang, Ernst; Sack, Michael N.; van Ham, Tjakko; Hsiao-Sanchez, Nicole; Bonifacino, Juan S.; Vanderver, Adeline
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errSave
Erythromelalgia caused by the missense mutation p.Arg220Pro in an alternatively spliced exon of SCN9A (NaV1.7)
errHUMAN MOLECULAR GENETICS
IF3.2
err2023-09-18
err0
errOAAI
errDeuis, Jennifer R.; Kumble, Smitha; Keramidas, Angelo; Ragnarsson, Lotten; Simons, Cas; Pais, Lynn; White, Susan M.; Vetter, Irina
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errSave
Integrated multi-omics for rapid rare disease diagnosis on a national scale
errNATURE MEDICINE
IF50
err2023-06-08
err35
errOAAI
errLunke, 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
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Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease
errHUMAN MOLECULAR GENETICS
IF3.2
err2023-05-03
err17
errOAAI
errAmarasekera, Sumudu S. C.; Hock, Daniella H.; Lake, Nicole J.; Calvo, Sarah E.; Gronborg, Sabine W.; Krzesinski, Emma, I; Amor, David J.; Fahey, Michael C.; Simons, Cas; Wibrand, Flemming; Mootha, Vamsi K.; Lek, Monkol; Lunke, Sebastian; Stark, Zornitza; ostergaard, Elsebet; Christodoulou, John; Thorburn, David R.; Stroud, David A.; Compton, Alison G.
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Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2023-03-01
err30
errOAAI
errStark, 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.
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BRANCHED-CHAIN AMINO ACID TRANSAMINASE-1 (BCAT1) AS A NOVEL CANDIDATE GENE FOR PEDIATRIC NEURODEGENERATION
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2023-03-01
err0
PREAI
errDiSanza, Brianna; Simons, Cas; Helman, Guy; Taft, Ryan; Vanderver, Adeline; Bhoj, Elizabeth; Ahrens-Nicklas, Rebecca
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errSave
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease
errNATURE COMMUNICATIONS
IF15.7
err2023-02-23
err10
errOAAI
errVan Haute, Lindsey; O'Connor, Emily; Diaz-Maldonado, Hector; Munro, Benjamin; Polavarapu, Kiran; Hock, Daniella H.; Arunachal, Gautham; Athanasiou-Fragkouli, Alkyoni; Bardhan, Mainak; Barth, Magalie; Bonneau, Dominique; Brunetti-Pierri, Nicola; Cappuccio, Gerarda; Caruana, Nikeisha J.; Dominik, Natalia; Goel, Himanshu; Helman, Guy; Houlden, Henry; Lenaers, Guy; Mention, Karine; Murphy, David; Nandeesh, Bevinahalli; Olimpio, Catarina; Powell, Christopher A.; Preethish-Kumar, Veeramani; Procaccio, Vincent; Rius, Rocio; Rebelo-Guiomar, Pedro; Simons, Cas; Vengalil, Seena; Zaki, Maha S.; Ziegler, Alban; Thorburn, David R.; Stroud, David A.; Maroofian, Reza; Christodoulou, John; Gustafsson, Claes; Nalini, Atchayaram; Lochmueller, Hanns; Minczuk, Michal; Horvath, Rita
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Research Directions

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