Browsing by Author Li, Jiankang

Jump to: 0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
or enter first few letters:  
Showing results 1 to 4 of 4
Issue DateTitleAuthor(s)Citation
2014Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1Al-Odaib, Ahmad; Barbaro, Pasquale; Bryan, Tracy; Christodoulou, John; Kartawinata, Melissa; Pickett, Hilda; Reddel, Roger; Chen, Yulan; Guo, Yiran; Hakonarson, Haron; Keating, Brendan; Kilo, Tatjana; Li, Jiankang; Teo, Juliana; Tian, Lifeng; Xu, Xun; Childrens Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Childrens Medical Research Ins; Childrens Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Childrens Medical Research InsInherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1, Blood, vol.124, 18, 2014,pp 2767-2774
2015Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemiaAlexander, Stephen; Christodoulou, John; Cooper, Sandra; Davis, Ryan; Menezes, Minal; Riley, Lisa; Sue, Carolyn; Arbuckle, Susan; Dong, Daoyuan; Glessner, Joseph; Guo, Yiran; Hakonarson, Haron; Keating, Brendan; Kirwan, Paul; Li, Jiankang; Li, Zhijun; Thorburn, David; Xu, Xun; Zhang, Jianguo; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Northern Clinical School: Kolling Institute; Childrens Hospital Westmead: Paediatrics & Child Health; Vet Science Faculty; Northern Clinical School: MedicineMutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia, Human Molecular Genetics, vol.24, 8, 2015,pp 2297-2307
2016Utility of next-generation sequencing technologies for the efficient genetic resolution of haematological disordersAdes, Lesley; Alodaib, Ahmed; Christodoulou, John; Gold, Wendy; Barbaro, P.; Guo, Yiran; Hakonarson, Hákon H.; Keating, Brendan; Li, Jiankang; Teo, Juliana; Xu, Xun; Zhang, Jianguo; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthUtility of next-generation sequencing technologies for the efficient genetic resolution of haematological disorders, Clinical Genetics, vol.89, 2, 2016,pp 163-172
2017Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial DisorderChristodoulou, John; Gold, Wendy; Nafisinia, Michael; Riley, Lisa; Chen, Yulan; Dang, Xiao; Guo, Yiran; Hakonarson, Hakon; Keating, Brendan; Lake, Nicole; Li, Jiankang; Thornburn, David; Xu, Xun; Zhang, Jianguo; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthWhole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder, JIMD Reports, vol.32, N/A, 2017,pp 117-124