Mengmeng Shi
Hong Kong, 999077, China
Last Updated: 09/26/2026
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Found 8 publications
Characterization of rare genomic structural variants across 2,981 genomes reveals significant involvements in recessive conditions.
Journal: Science China. Life sciences
Published: January 15, 2026
Investigation of the genetic etiology in male infertility with apparently balanced chromosomal structural rearrangements by genome sequencing.
Journal: Asian journal of andrology
Published: January 12, 2022
A Fetus with Congenital Microcephaly, Microphthalmia and Cataract Was Detected with Biallelic Variants in the OCLN Gene: A Case Report.
Journal: Diagnostics (Basel, Switzerland)
Published: June 18, 2021
Genome sequencing reveals the role of rare genomic variants in Chinese patients with symptomatic intracranial atherosclerotic disease.
Journal: Stroke and vascular neurology
Published: June 04, 2021
Low-pass genome sequencing-based detection of absence of heterozygosity: validation in clinical cytogenetics.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 07, 2020
The utility of genome-wide cell-free DNA screening in the prenatal diagnosis of Pallister-Killian syndrome.
Journal: Prenatal diagnosis
Published: December 04, 2019
Prenatal Diagnosis of Fetuses With Increased Nuchal Translucency by Genome Sequencing Analysis.
Journal: Frontiers in genetics
Published: April 16, 2019
Showing 1-8 of 8
Last Updated: 09/26/2026