Pengzhen Jin
Hangzhou, 310000, China
Last Updated: 09/26/2026
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Found 22 publications
Precise Reproductive Counseling Enabled by Long-Read Sequencing in a Case of a F8 Intron 1 Inversion and Duplication.
Journal: The application of clinical genetics
Published: March 03, 2026
Whole Genome Sequence Identifies the Second Allele: An Intronic Variant in RYR1 Contributes to Early-Onset Fetal Akinesia Deformation Sequence.
Journal: Molecular syndromology
Published: October 14, 2025
Diagnosis of de novo fetal aceruloplasminemia via whole exome sequencing and fetal umbilical blood ceruloplasmin measurement.
Journal: Orphanet journal of rare diseases
Published: September 08, 2025
Case Report: Prenatal diagnosis of gastrointestinal defects and immunodeficiency syndrome caused by compound heterozygous mutations in TTC7A gene.
Journal: Frontiers in immunology
Published: April 13, 2025
Molecular diagnostic yield of exome sequencing in a Chinese cohort of 512 fetuses with anomalies.
Journal: BMC pregnancy and childbirth
Published: May 15, 2024
Prenatal diagnosis of Apert syndrome caused by a de novo FGFR2 mutation in the second trimester: a case report.
Journal: BMC pregnancy and childbirth
Published: April 13, 2024
Performance of noninvasive prenatal screening for fetal sex chromosome aneuploidies in a cohort of 116,862 pregnancies.
Journal: Expert review of molecular diagnostics
Published: March 25, 2024
SLC10A5 deficiency causes hypercholanemia.
Journal: Hepatology (Baltimore, Md.)
Published: February 13, 2024
Identification of four TTN variants in three families with fetal akinesia deformation sequence.
Journal: BMC medical genomics
Published: December 18, 2023
Cytosine-guanine-guanine repeats of FMR1 gene negatively affect ovarian reserve and response in Chinese women.
Journal: Reproductive biomedicine online
Published: October 13, 2023
Case report: A compound heterozygous mutations in ASNS broadens the spectrum of asparagine synthetase deficiency in the prenatal diagnosis.
Journal: Frontiers in pediatrics
Published: August 07, 2023
Noninvasive Prenatal Screening for Common Fetal Aneuploidies Using Single-Molecule Sequencing.
Journal: Laboratory investigation; a journal of technical methods and pathology
Published: September 28, 2022
Last Updated: 09/26/2026