Peining Li

18PUBLICATIONS
89CO-AUTHORS
Developmental genetics (incl. sex determination)Epigenetics (incl. genome methylation and epigenomics)Gene expression (incl. microarray and other genome-wide approaches)Liquid biopsiesFoetal development and medicine
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (18)

|Apr 22, 2026
Second Prenatal Diagnosis of Bosch-Boonstra-Schaaf Optic Atrophy Syndrome in a Fetus With a 5q14.3q15 Deletion: A Case Report and Review of the Literature.

|Feb 27, 2026
Genotype-Phenotype Correlation Through Breakpoint Characterization of a Genomically Balanced Complex Chromosomal Rearrangement Using Long Read Sequencing.

Frenny Sheth, Jhanvi Shah, Mamta Muranjan

|Feb 02, 2026
Concomitant Chromosomal and Molecular Aberrations in Trisomy 8 Mosaicism and Associated Compound Phenotypes: Report of Three Cases and Review of Literature.

Zakia Abdelhamed, Daniel Dykas, Autumn DiAdamo

|Aug 28, 2025
Copy Number Variants of Uncertain Significance by Chromosome Microarray Analysis from Consecutive Pediatric Patients: Reevaluation Following Current Guidelines and Reanalysis by Genome Sequencing.

Wenjiao Li, Xiaolei Xie, Hongyan Chai

|Jun 04, 2025
A Concordance Study among 26 NGS Laboratories Participating in the NCI Molecular Analysis for Therapy Choice Clinical Trial.

Linda K Zane, Laura M Yee, Ting-Chia Chang

|Apr 01, 2024
Patterns of Cytogenomic Findings from a Case Series of Recurrent Pregnancy Loss Provide Insight into the Extent of Genetic Defects Causing Miscarriages.

Autumn DiAdamo, Hongyan Chai, Mei Ling Chong

Pageof 3

Frequent Collaborators

4 joint publications

Jiadi Wen

2 joint publications

Chris Karlovich

2 joint publications

James V Tricoli

2 joint publications

P Mickey Williams