Kaili Yin

Peking Union Medical College Hospital, Chinese Academy Of Medical Sciences & Peking Union Medical College
Beijing, 100730, China

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 18 publications

The Asymmetric Threat of Maternal Cell Contamination in Prenatal Single-Gene Testing.

The Asymmetric Threat of Maternal Cell Contamination in Prenatal Single-Gene Testing.

Journal: Diagnostics (Basel, Switzerland)

Published: June 08, 2026

Prenatal diagnosis and estimated penetrance of 15q11.2 BP1-BP2 microdeletion syndrome in a Chinese cohort: a retrospective study and literature review.

Prenatal diagnosis and estimated penetrance of 15q11.2 BP1-BP2 microdeletion syndrome in a Chinese cohort: a retrospective study and literature review.

Journal: Human genomics

Published: March 11, 2026

Development of a High-Throughput Microarray Platform for Rapid, Low-Cost Expanded Carrier Screening.

Development of a High-Throughput Microarray Platform for Rapid, Low-Cost Expanded Carrier Screening.

Journal: Prenatal diagnosis

Published: January 08, 2026

Genetic spectrum analysis of high-carrier-frequency monogenic disorders based on whole-exome sequencing in the Chinese general population.

Genetic spectrum analysis of high-carrier-frequency monogenic disorders based on whole-exome sequencing in the Chinese general population.

Journal: Human genomics

Published: December 25, 2025

Xq28 duplication not F8 inversion: integrated genetic reanalysis redefines prenatal carrier diagnosis.

Xq28 duplication not F8 inversion: integrated genetic reanalysis redefines prenatal carrier diagnosis.

Journal: Scientific reports

Published: November 17, 2025

A methodological study on the process of prenatal optical genome mapping: focusing on cell culture and quality control.

A methodological study on the process of prenatal optical genome mapping: focusing on cell culture and quality control.

Journal: Molecular cytogenetics

Published: June 24, 2025

Biochemical Testing Promotes Interpretation of Variants of Uncertain Significance in Prenatal Genetic Disease Testing in Four Organic Acidurias.

Biochemical Testing Promotes Interpretation of Variants of Uncertain Significance in Prenatal Genetic Disease Testing in Four Organic Acidurias.

Journal: Clinical genetics

Published: June 11, 2025

Incidental Identification of Potentially Affected Individuals Through Expanded Carrier Screening During Preconception or Early Pregnancy.

Incidental Identification of Potentially Affected Individuals Through Expanded Carrier Screening During Preconception or Early Pregnancy.

Journal: Prenatal diagnosis

Published: April 30, 2025

The clinical utility of systematic reporting of secondary findings in prenatal diagnosis.

The clinical utility of systematic reporting of secondary findings in prenatal diagnosis.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: April 02, 2025

Evaluation of the efficacy of optical genome mapping in prenatal diagnosis: a retrospective cohort study.

Evaluation of the efficacy of optical genome mapping in prenatal diagnosis: a retrospective cohort study.

Journal: Journal of translational medicine

Published: February 10, 2025

The distribution of D4Z4 repeats in China and direct prenatal diagnosis of FSHD by optical genome mapping.

The distribution of D4Z4 repeats in China and direct prenatal diagnosis of FSHD by optical genome mapping.

Journal: Orphanet journal of rare diseases

Published: December 23, 2024

Optical genome mapping to decipher the chromosomal aberrations in families seeking for preconception genetic counseling.

Optical genome mapping to decipher the chromosomal aberrations in families seeking for preconception genetic counseling.

Journal: Scientific reports

Published: August 31, 2024

Showing 1-12 of 18

Last Updated: 09/26/2026