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Research summary
My current research interests lie in the use of next-generation sequencing (NGS), in particular whole exome and whole genome sequencing (WES and WGS), in the study of Mendelian disease.
Briefly, I lead the analysis and interpretation of WES and WGS data from many hundreds of patients and families with inherited retinal disease (IRD) from numerous projects including large scale national and international studies.
The aims of these studies are multiple, including: discovery of novel disease genes and the ongoing functional studies to characterise these, improving our understanding of non-coding variants and structural rearrangement in Mendelian disease, broadening our knowledge of genotype/phenotype relationships and deciphering the complexities of genetic modifiers.
Importantly, these projects provide a means for patients to obtain a molecular diagnosis, feed our knowledge for diagnostic gene panel development, enable patients to enter therapy trials and lead to new targets for future therapies.
My current research interests lie in the use of next-generation sequencing (NGS), in particular whole exome and whole genome sequencing (WES and WGS), in the study of Mendelian disease.
Briefly, I lead the analysis and interpretation of WES and WGS data from many hundreds of patients and families with inherited retinal disease (IRD) from numerous projects including large scale national and international studies.
The aims of these studies are multiple, including: discovery of novel disease genes and the ongoing functional studies to characterise these, improving our understanding of non-coding variants and structural rearrangement in Mendelian disease, broadening our knowledge of genotype/phenotype relationships and deciphering the complexities of genetic modifiers.
Importantly, these projects provide a means for patients to obtain a molecular diagnosis, feed our knowledge for diagnostic gene panel development, enable patients to enter therapy trials and lead to new targets for future therapies.
Research Interests
Papers共 259 篇Author StatisticsCo-AuthorSimilar Experts
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Alfredo Dueñas Rey,Marta del Pozo Valero,Manon Bouckaert,Katherine A Wood,Filip Van den Broeck,Malena Daich Varela,Huw B Thomas,Mattias Van Heetvelde,Marieke De Bruyne,Stijn Van de Sompele,Miriam Bauwens, Hanne Lenaerts,Quinten Mahieu,Dragana Josifova,Carlo Rivolta,Raymond T O’Keefe,Jamie Ellingford,Andrew R Webster,Gavin Arno,Carmen Ayuso,Julie De Zaeytijd,Bart P Leroy,Elfride De Baere,Frauke Coppieters
Genome Medicineno. 1 (2024)
Stephanie S. Cornelis,Joanna Inthout,Esmee H. Runhart,Olivier Grunewald,Siying Lin,Zelia Corradi,Mubeen Khan,Rebekkah J. Hitti-Malin,Laura Whelan,G. Jane Farrar,Dror Sharon,L. Ingeborgh van den Born,Gavin Arno,Mark Simcoe,Michel Michaelides,Andrew R. Webster,Susanne Roosing,Omar A. Mahroo,Claire-Marie Dhaenens,Frans P. M. Cremers
JAMA ophthalmologyno. 5 (2024): 463-463
Shwetha Chandrasekhar,Siying Lin,Neringa Jurkute,Kathryn Oprych, Leire Estramiana Elorrieta,Elena Schiff,Samantha Malka, Genevieve Wright,Michel Michaelides,Omar A. Mahroo,Andrew R. Webster,Gavin Arno
CELLSno. 15 (2024)
Miriam Bauwens,Elifnaz Celik,Dinah Zur,Siying Lin,Mathieu Quinodoz,Michel Michaelides,Andrew R. Webster,Filip Van Den Broeck,Bart P. Leroy,Leah Rizel,Abigail R. Moye,Audrey Meunier,Hoai Viet Tran,Alexandre P. Moulin,Quinten Mahieu,Mattias Van Heetvelde,Gavi Arno,Carlo Rivolta,Elfride De Baere,Tamar Ben-Yosef
The American Journal of Human Geneticsno. 2 (2024): 393-402
Ophthalmology. Retinano. 7 (2024): 699-709
American journal of medical genetics. Part App.e63805-e63805, (2024)
AMERICAN JOURNAL OF OPHTHALMOLOGY (2024): 119-129
American journal of ophthalmology (2024): 255-263
James Liu, Yi He,Cara Lwin,Marina Han,Bin Guan,Amelia Naik,Chelsea Bender,Nia Moore,Laryssa A. Huryn,Yuri Sergeev,Haohua Qian,Yong Zeng,Lijin Dong,Pinghu Liu,Jingqi Lei, Carl J. Haugen,Lev Prasov, Ruifang Shi,Helene Dollfus, Petros Aristodemou,Yannik Laich,Andrea H. Nemeth,John Taylor,Susan Downes,Maciej R. Krawczynski,Isabelle Meunier, Melissa Strassberg,Jessica Tenney, Josephine Gao,Matthew A. Shear,Anthony T. Moore,Jacque L. Duncan,Beatriz Menendez,Sarah Hull,Andrea L. Vincent,Carly E. Siskind,Elias Traboulsi,Craig Blackstone,Robert A. Sisk,Virginia Miraldi Utz,Andrew R. Webster,Michel Michaelides,Gavin Arno,Matthis Synofzik,Robert B. Hufnagel
Brainno. 6 (2024): 2085-2097
Ana Belén Iglesias-Romero,Karolina Kaminska, Mathieu Quinodoz, Marc Folcher, Siying Lin,Gavin Arno, Joaquim Calado,Andrew R. Webster, Alexandre Moulin,Ana Berta Sousa,Luisa Coutinho-Santos,Cristina Santos,Carlo Rivolta
The American Journal of Human Genetics (2024)
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Author Statistics
#Papers: 259
#Citation: 4234
H-Index: 34
G-Index: 57
Sociability: 8
Diversity: 0
Activity: 5
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