Pengfei Liu

30PUBLICATIONS
158CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Epigenetics (incl. genome methylation and epigenomics)Cell and nuclear divisionMedical molecular engineering of nucleic acids and proteinsMedical infection agents (incl. prions)
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Publications (30)

|Apr 09, 2026
Evaluating the Utility of RNAseq in Prenatal Diagnostics: Expression Profiles of Cultured Chorionic Villus and Amniotic Fluid Samples.

Maria C Vladoiu, Sen Zhao, Roni Zemet

|May 27, 2025
Diagnostic Yield of Exome Sequencing for Pregnancies With and Without Fetal Anomalies and for Stillbirth.

Roni Zemet, Christian M Parobek, April D Adams

|Feb 20, 2025
The Utility of Ultra-Deep RNA sequencing in Mendelian Disorder Diagnostics.

Sen Zhao, Jefferson C Sinson, Shenglan Li

|Feb 17, 2025
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS.

Avinash V Dharmadhikari, Maria Alba Abad, Sheraz Khan

|Nov 01, 2024
Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps.

Kristine Bilgrav Saether, Jesper Eisfeldt, Jesse D Bengtsson

|Jul 04, 2024
AI-MARRVEL - A Knowledge-Driven AI System for Diagnosing Mendelian Disorders.

Dongxue Mao, Chaozhong Liu, Linhua Wang

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Frequent Collaborators

12 joint publications

Jill A Rosenfeld

5 joint publications

Jennifer E Posey

5 joint publications

Anna Lindstrand

4 joint publications

Ann Nordgren