Guilan Chen

Guangzhou, China

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 14 publications

Novel Haplotype-Based Noninvasive Prenatal Diagnosis for Recessive Single-Gene Disorders: A Proof-of-Concept Study.

Novel Haplotype-Based Noninvasive Prenatal Diagnosis for Recessive Single-Gene Disorders: A Proof-of-Concept Study.

Journal: Clinical genetics

Published: November 30, 2025

Case Report: Prenatal Diagnosis of Mucopolysaccharidosis IVA With Slow Growth of Long Bones: Identification of Novel Mutations in the GALNS Gene.

Case Report: Prenatal Diagnosis of Mucopolysaccharidosis IVA With Slow Growth of Long Bones: Identification of Novel Mutations in the GALNS Gene.

Journal: Congenital anomalies

Published: May 21, 2025

Prenatal Exome Sequencing for Fetal Macrocephaly: A Large Prospective Observational Cohort Study.

Prenatal Exome Sequencing for Fetal Macrocephaly: A Large Prospective Observational Cohort Study.

Journal: Prenatal diagnosis

Published: February 12, 2025

Genetic burden in neonatal and pediatric-onset pulmonary hypertension: A single-center retrospective study using exome sequencing in a Chinese population.

Genetic burden in neonatal and pediatric-onset pulmonary hypertension: A single-center retrospective study using exome sequencing in a Chinese population.

Journal: Pediatrics and neonatology

Published: January 25, 2024

Prenatal diagnosis in fetal right aortic arch using chromosomal microarray analysis and whole exome sequencing: a Chinese single-center retrospective study.

Prenatal diagnosis in fetal right aortic arch using chromosomal microarray analysis and whole exome sequencing: a Chinese single-center retrospective study.

Journal: Molecular cytogenetics

Published: August 21, 2023

Variant spectrum of F8 and F9 in hemophilia patients from southern China and 26 novel variants.

Variant spectrum of F8 and F9 in hemophilia patients from southern China and 26 novel variants.

Journal: Frontiers in genetics

Published: July 06, 2023

Comprehensive Analysis of Hemophilia A (CAHEA): Towards Full Characterization of the F8 Gene Variants by Long-Read Sequencing.

Comprehensive Analysis of Hemophilia A (CAHEA): Towards Full Characterization of the F8 Gene Variants by Long-Read Sequencing.

Journal: Thrombosis and haemostasis

Published: June 07, 2023

Early prenatal diagnosis of spondylocostal dysostosis caused by a novel variant in MESP2.

Early prenatal diagnosis of spondylocostal dysostosis caused by a novel variant in MESP2.

Journal: Congenital anomalies

Published: June 04, 2023

Case Report: Early diagnosis of lethal multiple pterygium syndrome with micrognathia: Two novel mutations in the CHRND gene.

Case Report: Early diagnosis of lethal multiple pterygium syndrome with micrognathia: Two novel mutations in the CHRND gene.

Journal: Frontiers in genetics

Published: July 28, 2022

Case report: A novel mosaic nonsense mutation of PCDH19 in a Chinese male with febrile epilepsy.

Case report: A novel mosaic nonsense mutation of PCDH19 in a Chinese male with febrile epilepsy.

Journal: Frontiers in neurology

Published: July 13, 2022

Application of exome sequencing for prenatal diagnosis of fetal structural anomalies: clinical experience and lessons learned from a cohort of 1618 fetuses.

Application of exome sequencing for prenatal diagnosis of fetal structural anomalies: clinical experience and lessons learned from a cohort of 1618 fetuses.

Journal: Genome medicine

Published: May 17, 2022

Contribution of maternal mosaicism to false-positive chromosome X loss associated with noninvasive prenatal testing.

Contribution of maternal mosaicism to false-positive chromosome X loss associated with noninvasive prenatal testing.

Journal: The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians

Published: March 14, 2022

Showing 1-12 of 14

Last Updated: 09/26/2026