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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.
研究兴趣
论文共 236 篇作者统计合作学者相似作者
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AMERICAN JOURNAL OF HUMAN GENETICSno. 2 (2024): 393-402
Ophthalmology. Retina (2024)
Yu Fujinami-Yokokawa,Kwangsic Joo,Xiao Liu,Kazushige Tsunoda,Mineo Kondo,Seong Joon Ahn,Anthony G Robson,Izumi Naka,Jun Ohashi,Hui Li,Lizhu Yang,Gavin Arno,
Investigative ophthalmology & visual scienceno. 1 (2024): 41-41
Documenta ophthalmologica. Advances in ophthalmologyno. 2 (2024): 115-120
Investigative ophthalmology & visual scienceno. 2 (2024): 38-38
Genome medicineno. 1 (2024): 7-7
Malena Daich Varela,Rene Moya, Rebeca Azevedo Souza Amaral,Patricio G. Schlottmann,Alejandro Alvarez Mendiara,Anibal Francone, Rosane Guazi Resende,Luciana Capalbo,Nancy Gelvez,Greizy Lopez,Ana M. Morales-Acevedo, Rafael H. Ossa,
James H. Liu, Yi He,Cara Lwin,Marina Han,Bin Guan, Amelia Niak,Chelsea Bender, Nia Moore,Laryssa A. Huryn,Yuri V. Sergeev,Haohua Qian,Yong Zeng,
bioRxiv (Cold Spring Harbor Laboratory) (2023)
American journal of ophthalmology (2023): 119-129
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