Dr Shi Mengmeng – O&G CUHK

1

Prenatal Tympanic Ring Anomaly Without Microtia: A Subtle Clue Toward Severe Early-Onset Monogenic Disorders Lam YH, Shi M, Dong Z, Choy KW, Leung TY, Cao Y Prenatal Diagnosis, 2026 Jun;46(7):1096-1103

2

Prenatal-Onset Recessive Titinopathies: Clinical Spectrum, Genotype–Phenotype Correlations, and Outcomes Zheng Y, Shi M, Zhao Y, Chung TCY, Chau MHK, Dong Z, Kwok YKY, Kwan HWA, Chong JSC, Leung TY, Lo TK, Choy KW, Zhang Y, Cao Y* Diagnostics, 2026 Jun;16(11):1723

3

NONO-Related Syndromic X-Linked Developmental Disability 34: Further Clinical and Molecular Delineation in a Prenatal Cohort Zhao Y, Zou G, Shi M, Law KM, Lau SL, Meng M, Ting YH, Poon CYL, Dong Z, Chau MHK, Leung TY, Choy KW, Zhang X, Cao Y Prenatal Diagnosis, 2026 May; 46(5-6):914-923

4

Shall we offer genetic testing for isolated fetal growth restriction with evidence of placental insufficiency? Cai L, Wei X, Zhou X, Shi M, Zhang Y, Choy KW, Sun L American Journal of Obstetrics and Gynecology, May 2026;234(5):e159-e168

5

Chromosomal abnormalities and neurological outcomes in fetal cerebral ventriculomegaly: a retrospective cohort analysis Lok WY, Kong CW, Hui SYA, Shi MM, Choy KW, To WK, Leung TY Hong Kong Med J. 2021 Dec;27(6):428-436

6

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

7

Low-pass genome sequencing-based detection of absence of heterozygosity: validation in clinical cytogenetics Dong Z, Chau MHK, Zhang Y, Yang Z, Shi M, Wah YMI, Kwok YK, Leung TY, Morton C, Choy KW Genet Med. 2021 Jul;23(7):1225-1233

8

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

9

The utility of genome-wide cell-free DNA screening in the prenatal diagnosis of Pallister-Killian syndrome Chau MHK, Lam YKD, Zhu X, Kwok YKY, Ting YH, Chan WP, Shi M, Cheung WH, Lau TK, Ville Y, Leung TY, Choy KW Prenat Diagn. 2020 Jul;40(8):1005-1012

10

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene Wang H, Zhu X, Gui B, Cheung WC, Shi M, Yang Z, Kwok YKY, Lim R, Pietilä S, Zhu Y, Choy KW J Vis Exp. 2019 Sep 16;(151):e59963 (8 pages)

11

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)