1
Detection of genomic variants by genome sequencing in foetuses with central nervous system abnormalities
Wang Y, Liu M, Gao Z, Hua C, Jiang J, Zheng Y, Dong Z, Cao Y, Choy KW, Zhu X, Kong X
Ann Med. 2024 Dec;56(1):2399317
2
Genome sequencing in the prenatal diagnosis of structural malformations in the fetus
Chau MHK, Choolani M, Dong Z, Cao Y, Choy KW
Best Pract Res Clin Obstet Gynaecol. 2024 Sep 13:102539
3
Prenatal Diagnosis and Pregnancy Outcomes of Fetuses With Orofacial Cleft: A Retrospective Cohort Study in Two Centres in Hong Kong
Li YY, Tse WT, Kong CW, Wong NKL, Leung TY, Choy KW, To WWK, Cao Y
Cleft Palate Craniofac J. 2024 Mar;61(3):391-399
4
Prenatal diagnosis of polycystic kidney caused by biallelic hypomorphic variants in the PKD1 gene
Zheng Y, Wong L, Kwan AHW, Dong Z, Kwok KY, Choy KW, Dai H, Cao Y
Prenat Diagn. 2024 Feb;44(2):247-250
5
Renal and extra-renal phenotypes in a fetus with a de novo pathogenic variant in the HNF1B gene
Tse WT, Cao Y, Lam PPH, Law KM, Choy KW, Ting YH
Prenat Diagn. 2024 Feb;44(2):251-254
6
Single-cell analysis reveals specific neuronal transition during mouse corticogenesis
Zhou Z., Pan Y., Zhou S., Wang S., Zhang D., Cao Y., Jiang X., Li J., Zhu L., Zhao L., Gu S., Lin G., Dong Z., Sun H.X.
Front Cell Dev Biol. 2023 Nov 6:11:1209320
7
A Pilot Investigation of Low-pass Genome Sequencing Identifying Site-Specific Variation in Chromosomal Mosaicisms by a Multiple Site Sampling Approach in First-trimester Miscarriages
Li Y, Chau MHK, Zhang YX, Zhao YL, Xue SW, Li TC, Cao Y, Dong Z, Choy KW, Chung JPW
Hum Reprod. 2023 Aug 1;38(8):1628-1642
8
Low-pass genome sequencing-based detection of paternity: validation in clinical cytogenetics
Li K, Zhao Y, Chau MHK, Cao Y, Leung TY, Kwok YK, Choy KW, Dong Z
Genes 2023 Jul; 14(7):1357
9
Diagnostic Yield of Exome Sequencing in Fetuses with Sonographic Features of Skeletal Dysplasias but Normal Karyotype or Chromosomal Microarray Analysis: A Systematic Review
Tse KY, Surya IU, Irwinda R, Leung KY, Ting YH, Cao Y, Choy KW
Genes (Basel). 2023 May 30;14(6)
10
Expansion of the clinical and molecular spectrum of WWOX-related epileptic encephalopathy
Chong SC, Cao Y, Fung ELW, Kleppe S, Gripp KW, Hertecant J, El-Hattab AW, Suleiman J, Clark G, von Allmen G, Rodziyevska O, Lewis RA, Rosenfeld JA, Dong J, Undiagnosed Diseases Network , Wang X, Miller MJ, Bi W, Liu P, Scaglia F
Am J Med Genet A 2023 Mar;191(3):776-785
11
Mate-pair genome sequencing reveals structural variants for idiopathic male infertility
Dong Z, Qian J, Law TSM, Chau MHK, Cao Y, Xue S, Tong S, Zhao Y, Kwok YK, Ng K, Chan DYL, Chiu PKF, Ng CF, Chung CHS, Mak JSZM, Leung TY, Chung JPW, Morton CC, Choy KW
Hum Genet. 2023 Mar;142(3):363-377
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TEDD: a database of temporal gene expression patterns during multiple developmental periods in human and model organisms
Zhou Z, Tan C, Chau MHK, Jiang X, Ke Z, Chen X, Cao Y, Kwok YK, Bellgard M, Leung TY, Choy KW, Dong Z
Nucleic Acids Res. 2023 Jan 6;51(D1):D1168-D1178
13
Case report: prenatal recurrent microcephaly and corpus callosum abnormalities in a Chinese family with novel biallelic SASS6 mutations
Wah YMI, Cao Y, Law CY, Choy KW, Leung TY, Kwan HWA, Poon LC
Fetal Diagn Ther. 2023;50(2):84-91
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Exploring the diagnostic utility of genome sequencing for fetal congenital heart defects
Cao Y, Chau MHK, Zheng Y, Zhao Y, Kwan AHW, Hui SYA, Lam YH, Tan TYT, Tse WT, Wong L, Leung TY, Dong Z, Choy KW
Prenat Diagn. 2022 Jun;42(7):862-872. (Impact factor (2022): 3.0, citations: 6
15
Investigation of chromosomal structural abnormalities in patients with undiagnosed neurodevelopmental disorders
Cao Y, Luk HM, Zhang YY, Chau MHK, Xue S, Cheng SSW, Li AM, Chong JSC, Leung TY, Dong Z, Choy KW, Lo IFM
Front Genet. 2022 Apr 14;13:803088
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International Urogynaecology Consultation chapter 1 committee 4: patients’ perception of disease burden of pelvic organ prolapse
Robinson D, Prodigalidad LT, Chan S, Serati M, Lozo S, Lowder J, Ghetti C, Hullfish K, Hagen S, Dumoulin C
Int Urogynecol J. 2022 Feb;33(2):189-210
17
Whole-genome sequencing of genetically undiagnosed euploid fetuses with increased nuchal translucency: abridged secondary publication
Choy RKW, Cao Y, Lo FM, Cheung SW, Yang Y, Leung TY
Hong Kong Med J. 2022 Feb;28 Suppl 1(1):8-10
18
A Fetus with Congenital Microcephaly, Microphthalmia and Cataract Was Detected with Biallelic Variants in the OCLN Gene: A Case Report
Ng VKS, Lau TK, Kan ASY, Chung BHY, Luk HM, Ng WF, Shi M, Choy KW, Cao Y, Leung WC
Diagnostics 2021 Aug;11(9): 1576
19
Expanded carrier screening using next-generation sequencing of 123 Hong Kong Chinese families: a pilot study
Chan OYM, Leung TY, Cao Y, Shi MM, Kwan AHW, Chung JPW, Choy KW, Chong SC
Hong Kong Med J. 2021 Jun;27(1):177-183
20
Kidney Biopsy in Patients with Monoclonal Gammopathy: A Multicenter Retrospective Cohort Study
Nie S, Wang M, Wan Q, Kong Y, Ou J, Jia N, Zhang X, Luo F, Liu X, Wang L, Cao Y, Chen R, Zhao M, Chan DYL, Wang G
Front Med (Lausanne). 2021 May 24;8:687149
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Clinical Implementation of Expanded Carrier Screening in Pregnant Women at Early Gestational Weeks: A Chinese Cohort Study
Shi M, Liauw AL, Tong S, Zheng Y, Leung TY, Chong SC, Cao Y, Lau TK, Choy KW, Chung JPW.
Genes (Basel). 2021 Mar 29;12(4):496
22
Clinical utility of expanded non-invasive prenatal screening and chromosomal microarray analysis in high-risk pregnancy
Zhu X, Chen M, Wang H, Guo Y, Chau MHK, Yan H, Cao Y, Kwok YKY, Chen J, Hui ASY, Zhang R, Meng Z, Zhu Y, Leung TY, Xiong L, Kong X, Choy KW
Ultrasound Obstet Gynecol. 2021 Mar;57(3):459-465
23
Genotype-phenotype study and expansion of ARL6IP1-related complicated hereditary spastic paraplegia
Cao Y, Manning M, Pope K, He W, Vetrini F, Siskind C, Rosenfeld JA, Yang Y, Xiao R
Clin Genet. 2021 Mar;99(3):477-480
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The role of chromosomal microarray analysis among fetuses with normal karyotype and single system anomaly or nonspecific sonographic findings
Hui ASY, Chau MHK, Chan YM, Cao Y, Kwan AHW, Zhu X, Kwok YKY, Chen Z, Lao TTH, Choy KW, Leung TY
Acta Obstet Gynecol Scand. 2021 Feb;100(2):235-243
25
Clinical Significance of Non-Invasive Prenatal Screening for Trisomy 7: Cohort Study and Literature Review
Zhu X, Lam DYM, Chau MHK, Xue S, Dai P, Zhao G, Cao Y, Cheung SWH, Kwok YKY, Choy KW, Kong X, Leung TY
Genes (Basel). 2020 Dec 24;12(1):E11
26
Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions
Gambin T, Liu Q, Karolak JA, Grochowski CM, Xie NG, Wu LR, Yan YH, Cao Y, Coban Akdemir ZH, Wilson TA, Jhangiani SN, Chen E, Eng CM, Muzny D, Posey JE, Yang Y, Zhang DY, Shaw C, Liu P, Lupski JR, Stankiewicz P
Genet Med. 2020 Nov;22(11):1768-1776
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Noninvasive prenatal sequencing for multiple Mendelian monogenic disorders among fetuses with skeletal dysplasia or increased nuchal translucency
Yan H, Zhu X, Chen J, Cao Y, Kwok YKY, Chen Z, Leung TY, Chen M, Choy KW
Prenat Diagn. 2020 Oct;40(11):1459-1465
28
Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders
Szot JO, Campagnolo C, Cao Y, Iyer KR, Cuny H, Drysdale T, Flores-Daboub JA, Bi W, Westerfield L, Liu P, Leung TN, Choy KW, Chapman G, Xiao R, Siu VM, Dunwoodie SL
Am J Hum Genet. 2020 Jan 2;106(1):129-136
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Genome Sequencing Explores Complexity of Chromosomal Abnormalities in Recurrent Miscarriage.
Dong Z, Yan J, Xu F, Yuan J, Jiang H, Wang H, Chen H, Zhang L, Ye L, Xu J, Shi Y, Yang Z, Cao Y, Chen L, Li Q, Zhao X, Li J, Chen A, Zhang W, Wong HG, Qin Y, Zhao H, Chen Y, Li P, Ma T, Wang WJ, Kwok YK, Jiang Y, Pursley AN, Chung JPW, Hong Y, Kristiansen K, Yang H, Piña-Aguilar RE, Leung TY, Cheung SW, Morton CC, Choy KW, Chen ZJ.
Am J Hum Genet. 2019 Dec 5;105(6):1102-1111.
30
Consensus interpretation of the p.Met34Thr and p.Val37Ilevariants in GJB2 by the ClinGen Hearing Loss Expert Panel
Shen J, Oza AM, Castillo Del, Duzkale H, Matsunaga T, Pandya A, Kang HP, Mar-Heyming R, Guha S, Moyer K, Lo C, Kenna M, Alexander JJ, Zhang Y, Hirsch Y, Luo M, Cao Y, Choy KW, Cheng YF, Avraham KB, Hu X, Garrido G, Moreno-Pelayo MA, Greinwald J, Zhang K, Zeng Y, Brownstein Z, Basel-Salmon L, Davidov B, Frydman M, Weiden T, Nagan N, Willis A, Hemphill SE, Grant AR, Siegert RK, DiStefano MT, Amr SS, Rehm HL, Abou Tayoun AN; ClinGen Hearing Loss Working Group.
Genet Med. 2019 Nov;21(11):2442-2452
31
A prospective study of non-invasive preimplantation genetic testing for aneuploidies (NiPGT-A) using next-generation sequencing (NGS) on spent culture media (SCM).
Yeung QSY, Zhang YX, Chung JPW, Lui WT, Kwok YKY, Gui B, Kong GWS, Cao Y, Li TC, Choy KW.
J Assist Reprod Genet. 2019 Aug;26(8);1609-1621.
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Prenatal Diagnosis of Fetuses with Increased Nuchal Translucency by Genome Sequencing Analysis
Choy KW, Wang H, Shi M, Chen J, Yang Z, Zhang R, Yan H, Wang Y, Chen S, Chau MHK, Cao Y, Chan OYM, Kwok YKY, Zhu Y, Chen M, Leung TY, Dong Z
Front Genet. 2019 Aug; volume 10:761 (14 pages)
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Characteristics and mode of inheritance of pathogenic copy number variants in prenatal diagnosis
Chau MHK, Cao Y, Kwok YKY, Chan S, Chan YM, Wang H, Yang Z, Wong HK, Leung TY, Choy KW
American Journal of Obstetrics and Gynecology 2019;221(5):493e1-e11.
34
YY1 regulates skeletal muscle regeneration through controlling metabolic reprogramming of satellite cells
Chen FY, Zhou JJ, Li YY, Zhao Y, Yuan J, Cao Y, Wang LJ, Zhang ZK, Zhang BT, Wang CC, Cheung T, Wu ZG, Wong CCL, Sun H, Wang HT
EMBO J. 2019 May 15;38(10). pii: e99727
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Identification of a PTEN mutation with reduced protein stability, phosphatase activity, and nuclear localization in Hong Kong patients with autistic features, neurodevelopmental delays, and macrocephaly
Wong CW, Or PMY, Wang Y, Li L, Li J, Yan M, Cao Y, Luk HM, Tong TMF, Leslie NR, Lo IF, Choy KW, Chan AML
Autism Res. 2018 Aug;11(8):1098-1109
36
Identification of balanced chromosomal rearrangements previously unknown among participants in the 1000 Genomes Project: implications for interpretation of structural variation in genomes and the future of clinical cytogenetics
Dong Z, Wang H, Chen H, Jiang H, Yuan J, Yang Z, Wang WJ, Xu F, Guo X, Cao Y, Zhu Z, Geng C, Cheung CWC, Kwok YKY, Yang H, Leung TY, Morton CC, Cheung SW, Choy KW
Genet Med. 2018 Jul;20(7):697-707
37
Target-enriched massively parallel sequencing for genetic diagnosis of hereditary hearing loss in patients with normal array CGH result
Choy KW, Cao Y, Lam STS, Lo FM, Morton CC, Leung TY
Hong Kong Med J. 2018 Jun;24 Suppl 3(3):11-14
38
Chromosome copy number variants in fetuses with syndromic malformations
Wang H, Chau MHK, Cao Y, Kwok KY, Choy KW
Birth Defects Res. Jun 2017 ;109(10):725-733
39
Prenatal detection of 10q22q23 duplications: dilemmas in phenotype prediction
Kong GWS, Cao Y, Huang J, Cheng KY, Pursley AN, Rosenfeld JA, Edwards J G, Chan YM, Cheung SW, Leung TY, Choy KW
Prenat Diagn. 2016 Dec;36(13):1211-1216
40
SNaPshot Reveals High Mutation and Carrier Frequencies of 15 Common Hearing Loss Mutants in a Chinese Newborn Cohort.
Chen Y, Cao Ye, Li HB, Mao J, Liu MJ, Liu YH, Wang BJ, Jiang D, Zhu Q, Ding Y, Wang W, Li H, Choy KW
Clin Genet 2015;87(5): 467 - 472