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Weimin Bi

17PUBLICATIONS

33CO-AUTHORS

Epigenetics (incl. genome methylation and epigenomics)NeurogeneticsCell and nuclear divisionGene expression (incl. microarray and other genome-wide approaches)Medical mycology

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Publications (17)

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|Mar 10, 2025

Unraveling the Molecular and Clinical Consequences of an Intragenic TRIP12 Duplication Using Genomic and RNA Analyses.

Haowei Du, Przemyslaw Szafranski, Amanda Gerard

|Feb 27, 2023

Compound heterozygosity of a de novo submicroscopic deletion and an inherited frameshift pathogenic variant in the <i>PKHD1</i> gene in a fetus with bilaterally enlarged and echogenic kidneys, enlarged abdomen and oligohydramnios.

Takuya Sakyu, Samantha R Stover, Yue Wang

|Sep 23, 2022

Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences.

Weimin Bi, Bo Yuan, Pengfei Liu

|Sep 06, 2022

Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis.

Runjun D Kumar, Linyan Meng, Pengfei Liu

|Feb 21, 2022

LMOD2-related dilated cardiomyopathy presenting in late infancy.

Erica Lay, Mahshid S Azamian, Susan W Denfield

|Jun 01, 2021

A rare description of pure partial trisomy of 16q12.2q24.3 and review of the literature.

Joshua Manor, Daniela Dinu, Mahshid S Azamian

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Frequent Collaborators

3 joint publications

Seema R Lalani

3 joint publications

Jill A Rosenfeld

3 joint publications

Pengfei Liu

2 joint publications

Sau Wai Cheung

2 joint publications

Bo Yuan

1 joint publications

Brady Slater

1 joint publications

Philip M Boone

1 joint publications

Paweł Stankiewicz

1 joint publications

Tiana M Scott

1 joint publications

Yaping Yang

Frequent Collaborators

3 joint publications

Seema R Lalani

3 joint publications

Jill A Rosenfeld

3 joint publications

Pengfei Liu

2 joint publications

Sau Wai Cheung

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