Research Outputs (3501)

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Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders Szot Justin O., Campagnolo Carla, Cao Ye, Iyer Kavitha R., Cuny Hartmut, Drysdale Thomas, Flores-Daboub Josue A., Bi Weimin, Westerfield Lauren, Liu Pengfei, Leung Tse Ngong, Choy Kwong Wai, Chapman Gavin, Xiao Rui, Siu VictoriaM., Dunwoodie Sally L. ( 2020 ) The American Journal of Human Genetics Publication in refereed journal Digital Object Identifier (DOI): http://dx.doi.org/10.1016/j.ajhg.2019.12.006
A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing Cao Y, Tokita MJ, Chen ES, Ghosh R, Chen T, Feng Y, Gorman E, Gibellini F, Ward PA, Braxton A, Wang X, Meng L, Xiao R, Bi W, Xia F, Eng CM, Yang Y, Gambin T, Shaw C, Liu P, Stankiewicz P ( 2019 ) Genome medicine Publication in refereed journal Digital Object Identifier (DOI): http://dx.doi.org/10.1186/s13073-019-0658-2
A cohort study comparing 4 mg and 10 mg daily doses of postoperative oestradiol therapy to prevent adhesion reformation after hysteroscopic adhesiolysis Liu LL, Huang XW, Xia EL, Zhang XY, Li TC, Liu YH ( 2019 ) HUMAN FERTILITY Publication in refereed journal Digital Object Identifier (DOI): http://dx.doi.org/10.1080/14647273.2018.1444798
A comparison of the expression of toll-like receptors in endometrial biopsy specimens precisely timed on day LH+7 between those with or without chronic endometritis Liu Y, Chen X, Cheung CWC, Zhao Y, Chung JPW, Li TC ( 2019 ) Invited conference paper presented and published in conference proceedings
A comparison of uterine natural killer cell density in the peri-implantation period between natural cycles and hormone replacement therapy cycles Yang Wen-Jui, Chen Xiaoyan, Zhao Yiwei, Cheung Wing Ching, Hsiao Shun-yu, Liu Yingyu, Law Tracy, Chung Jacqueline, Li Tin-Chiu ( 2019 ) Publication in refereed journal Digital Object Identifier (DOI): http://dx.doi.org/10.1111/aji.13156
A comparison of uterine natural killer cells density in the peri-implantation period between natural cycles and hormone replacement cycles Yang W, Zhao Y, Chen X, Li TC ( 2019 ) Refereed conference paper presented and published in conference proceedings
Age does not affect uterine natural killer (uNK) cells density in the peri-implantation endometrium Qi R, Chen X, Liu Y, Cheung CWC, Wang RCC, Li TC ( 2019 ) Refereed conference paper presented and published in conference proceedings
Analysis of fragment size distribution of cell-free DNA: A potential non-invasive marker to monitor graft damage in living-related liver transplantation for inborn errors of metabolism Ng HoiIoi, Zhu Xiaofan, Xuan Liming, Long Yan, Mao Yan, Shi Yu, Sun Liying, Liang Bo, Scaglia Fernando, Choy KwongWai, Zhu Zhijun ( 2019 ) Molecular Genetics and Metabolism Publication in refereed journal Digital Object Identifier (DOI): http://dx.doi.org/10.1016/j.ymgme.2019.03.004
An examination of density and clustering of four major immune cells in women with recurrent miscarriage in precisely timed endometrial samples compared with fertile controls Zhao Y, Chen X, Zhang T, Liu Y, Li TC ( 2019 ) Refereed conference paper presented and published in conference proceedings
A prospective observational study on the stress levels at the time of embryo transfer and pregnancy testing following in vitro fertilisation treatment: a comparison between women with different treatment outcomes Cheung C, Saravelos S, Chan T, Sahota D, Wang C, Chung P, Li T ( 2019 ) BJOG: An International Journal of Obstetrics & Gynaecology; BJOG: An International Journal of Obstetrics & Gynaecology Publication in refereed journal Digital Object Identifier (DOI): http://dx.doi.org/10.1111/1471-0528.15434

Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders

Szot Justin O., Campagnolo Carla, Cao Ye, Iyer Kavitha R., Cuny Hartmut, Drysdale Thomas, Flores-Daboub Josue A., Bi Weimin, Westerfield Lauren, Liu Pengfei, Leung Tse Ngong, Choy Kwong Wai, Chapman Gavin, Xiao Rui, Siu VictoriaM., Dunwoodie Sally L. ( 2020 )

The American Journal of Human Genetics

Publication in refereed journal

Digital Object Identifier (DOI): http://dx.doi.org/10.1016/j.ajhg.2019.12.006

A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing

Cao Y, Tokita MJ, Chen ES, Ghosh R, Chen T, Feng Y, Gorman E, Gibellini F, Ward PA, Braxton A, Wang X, Meng L, Xiao R, Bi W, Xia F, Eng CM, Yang Y, Gambin T, Shaw C, Liu P, Stankiewicz P ( 2019 )

Genome medicine

Publication in refereed journal

Digital Object Identifier (DOI): http://dx.doi.org/10.1186/s13073-019-0658-2

A cohort study comparing 4 mg and 10 mg daily doses of postoperative oestradiol therapy to prevent adhesion reformation after hysteroscopic adhesiolysis

Liu LL, Huang XW, Xia EL, Zhang XY, Li TC, Liu YH ( 2019 )

HUMAN FERTILITY

Publication in refereed journal

Digital Object Identifier (DOI): http://dx.doi.org/10.1080/14647273.2018.1444798

A comparison of the expression of toll-like receptors in endometrial biopsy specimens precisely timed on day LH+7 between those with or without chronic endometritis

Liu Y, Chen X, Cheung CWC, Zhao Y, Chung JPW, Li TC ( 2019 )

Invited conference paper presented and published in conference proceedings

A comparison of uterine natural killer cell density in the peri-implantation period between natural cycles and hormone replacement therapy cycles