D
Desirée du Sart
Researcher at Royal Children's Hospital
Publications - 39
Citations - 3475
Desirée du Sart is an academic researcher from Royal Children's Hospital. The author has contributed to research in topics: Population & X-inactivation. The author has an hindex of 24, co-authored 38 publications receiving 3149 citations. Previous affiliations of Desirée du Sart include University of Melbourne.
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Journal ArticleDOI
A Prospective Study of Sudden Cardiac Death among Children and Young Adults
Richard D. Bagnall,Robert G. Weintraub,Jodie Ingles,Jodie Ingles,Johan Duflou,Johan Duflou,Laura Yeates,Laura Yeates,Lien Lam,Andrew M. Davis,T. Thompson,V. Connell,Jennie Wallace,Charles Naylor,Jackie Crawford,Donald R. Love,Lavinia Hallam,Jodi White,Christopher Lawrence,Matthew J Lynch,Natalie Morgan,Paul A. James,Desirée du Sart,Rajesh Puranik,Rajesh Puranik,Neil E. I. Langlois,Jitendra K. Vohra,Ingrid Winship,John Atherton,Julie McGaughran,Jonathan R. Skinner,Christopher Semsarian,Christopher Semsarian +32 more
TL;DR: The addition of genetic testing to autopsy investigation substantially increased the identification of a possible cause of sudden cardiac death among children and young adults.
Journal ArticleDOI
GJB2 mutations and degree of hearing loss: a multicenter study.
Rikkert L. Snoeckx,Patrick L. M. Huygen,Delphine Feldmann,Sandrine Marlin,Françoise Denoyelle,Jaroslaw Waligora,Małgorzata Mueller-Malesińska,Agneszka Pollak,Rafał Płoski,Alessandra Murgia,Eva Orzan,Pierangela Castorina,Umberto Ambrosetti,Ewa Nowakowska-Szyrwinska,Jerzy Bal,Wojciech Wiszniewski,Andreas R. Janecke,Doris Nekahm-Heis,Pavel Seeman,O. Bendová,Margaret A. Kenna,Anna Frangulov,Heidi L. Rehm,Mustafa Tekin,Armagan Incesulu,Hans Henrik M. Dahl,Desirée du Sart,Lucy Jenkins,Deirdre Lucas,Maria Bitner-Glindzicz,Karen B. Avraham,Zippora Brownstein,Ignacio del Castillo,Felipe Moreno,Nikolaus Blin,Markus Pfister,István Sziklai,Tímea Tóth,Philip M. Kelley,Edward S. Cohn,Lionel Van Maldergem,Pascale Hilbert,Anne Françoise Roux,Michel Mondain,Lies H. Hoefsloot,Cor W. R. J. Cremers,Tuija Löppönen,Heikki Löppönen,Agnete Parving,Karen Grønskov,Iris Schrijver,Joseph B. Roberson,Francesca Gualandi,Alessandro Martini,Geneviève Lina-Granade,Nathalie Pallares-Ruiz,Céu Correia,Graça Fialho,Kim Cryns,Nele Hilgert,Paul Van de Heyning,Carla Nishimura,Richard J.H. Smith,Guy Van Camp +63 more
TL;DR: The association between genotype and degree of hearing loss in persons with HI and biallelic GJB2 mutations was assessed and two genotypes had significantly more-severe HI than that of 35delG homozygotes.
Journal ArticleDOI
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
Bryony A. Thompson,Bryony A. Thompson,Amanda B. Spurdle,John-Paul Plazzer,Marc S. Greenblatt,Kiwamu Akagi,Fahd Al-Mulla,Bharati Bapat,Inge Bernstein,Gabriel Capellá,Johan T. den Dunnen,Desirée du Sart,Aurelie Fabre,Michael Farrell,Susan M. Farrington,Ian M. Frayling,Thierry Frebourg,David E. Goldgar,David E. Goldgar,Christopher D. Heinen,Elke Holinski-Feder,Maija R.J. Kohonen-Corish,Maija R.J. Kohonen-Corish,Maija R.J. Kohonen-Corish,Kristina Lagerstedt Robinson,Suet Yi Leung,Alexandra Martins,Pål Møller,Monika Morak,Minna Nyström,Päivi Peltomäki,Marta Pineda,Ming Qi,Ming Qi,Rajkumar Ramesar,Lene Juel Rasmussen,Brigitte Royer-Pokora,Rodney J. Scott,Rodney J. Scott,Rolf H. Sijmons,Sean V. Tavtigian,Carli M. J. Tops,Thomas P. Weber,Juul T. Wijnen,Michael O. Woods,Finlay A. Macrae,Maurizio Genuardi +46 more
TL;DR: This large-scale endeavor will facilitate the consistent management of families suspected to have Lynch syndrome and demonstrates the value of multidisciplinary collaboration in the curation and classification of variants in public locus-specific databases.
Journal ArticleDOI
A functional neo-centromere formed through activation of a latent human centromere and consisting of non-alpha-satellite DNA
Desirée du Sart,Michael R. Cancilla,Elizabeth D. Earle,Jen I. Mao,Richard Saffery,Kellie M. Tainton,Paul Kalitsis,John Martyn,Alyssa E. Barry,K. H. Andy Choo +9 more
TL;DR: Chromosome walking using cloned single-copy DNA from this region enabled us to identify the antibody-binding domain of this centromere, and extensive restriction mapping indicates that this domain has an identical genomic organization to the corresponding normal chromosomal region.
Journal ArticleDOI
A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation
Peter A. Gochee,Lawrie W. Powell,Digby J. Cullen,Desirée du Sart,Enrico Rossi,John K. Olynyk,John K. Olynyk +6 more
TL;DR: The presence of the H63D mutation results in a significant increase in serum transferrin saturation but does not result in significant iron overload, and in the absence of the C282Y mutation, the H 63D mutation is not clinically significant.