Weimin Bi (Weimen Bi)

ORCID

Publication Activity (10 Years)

Years Active: 2018-2023
Publications (10 Years): 17

Top Venues

American journal of medical genetics. Part A

Clinical case reports

Genome medicine

Human mutation

This page only lists publications with an associated author ORCID identifier.

Publications

Takuya Sakyu, Samantha R Stover, Yue Wang, Patricia Ward, Manisha Gandhi, Michael C Braun, Ignatia B Van den Veyver, Weimin Bi
Compound heterozygosity of a de novo submicroscopic deletion and an inherited frameshift pathogenic variant in the PKHD1 gene in a fetus with bilaterally enlarged and echogenic kidneys, enlarged abdomen and oligohydramnios. Clinical case reports 11 (2) (2023)
Takuya Sakyu, Samantha R Stover, Yue Wang, Patricia Ward, Manisha Gandhi, Michael C Braun, Ignatia B Van den Veyver, Weimin Bi
Compound heterozygosity of a de novo submicroscopic deletion and an inherited frameshift pathogenic variant in the PKHD1 gene in a fetus with bilaterally enlarged and echogenic kidneys, enlarged abdomen and oligohydramnios. Clinical case reports 11 (2) (2023)
Erica Lay, Mahshid S Azamian, Susan W Denfield, William Dreyer, Joseph A Spinner, Debra Kearney, Lilei Zhang, Kim C Worley, Weimin Bi, Seema R Lalani
LMOD2-related dilated cardiomyopathy presenting in late infancy. American journal of medical genetics. Part A 188 (6) (2022)
Runjun D Kumar, Linyan Meng, Pengfei Liu, Christina Y Miyake, Kim C Worley, Weimin Bi, Seema R Lalani
Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis. American journal of medical genetics. Part A 188 (11) (2022)
Weimin Bi, Bo Yuan, Pengfei Liu, Jaclyn B Murry, Xiang Qin, Fan Xia, Thao Quach, Lance M Cooper, Joanna Wiszniewska, Patricia Hixson, Sandra Peacock, Vijay S Tonk, Robert W Huff, Veronica Ortega, James R Lupski, Steven E Scherer, Rebecca Okashah Littlejohn, Gopalrao V N Velagaleti, Elizabeth R Roeder, Sau Wai Cheung
Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences. Journal of medical genetics (2022)
Joshua Manor, Daniela Dinu, Mahshid S Azamian, Weimin Bi, Sandra Darilek, Seema R Lalani
A rare description of pure partial trisomy of 16q12.2q24.3 and review of the literature. American journal of medical genetics. Part A 185 (10) (2021)
Stacey D Edwards, Katharina V Schulze, Jill Anne Rosenfeld, Lauren E Westerfield, Amanda Gerard, Bo Yuan, Elena L Grigorenko, Jennifer E Posey, Weimin Bi, Pengfei Liu
Clinical characterization of individuals with the distal 1q21.1 microdeletion. American journal of medical genetics. Part A 185 (5) (2021)
Sugi Panneerselvam, Julia Wang, Wenmiao Zhu, Hongzheng Dai, John G Pappas, Rachel Rabin, Karen J Low, Jill Anne Rosenfeld, Lisa Emrick, Rui Xiao, Fan Xia, Yaping Yang, Christine M Eng, Anne Anderson, Vann Chau, Claudia Soler-Alfonso, Haley Streff, Seema R Lalani, Saadet Mercimek-Andrews, null null, null null, Weimin Bi
PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy. Clinical genetics 100 (2) (2021)
Rebecca Markovitz, Rajarshi Ghosh, Molly E Kuo, William Hong, Jaehyung Lim, Saunder Bernes, Stephanie Manberg, Kathleen Crosby, Pranoot Tanpaiboon, Diana Bharucha-Goebel, Carsten Bonnemann, Carrie A Mohila, Elizabeth Mizerik, Suzanne Woodbury, Weimin Bi, Timothy Lotze, Anthony Antonellis, Rui Xiao, Lorraine Potocki
GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment. American journal of medical genetics. Part A 182 (5) (2020)
Tiana M Scott, Hui Guo, Evan E Eichler, Jill Anne Rosenfeld, Kaifang Pang, Zhandong Liu, Seema Lalani, Weimin Bi, Yaping Yang, Carlos A Bacino, Haley Streff, Andrea M Lewis, Mary K Koenig, Isabelle Thiffault, Allison Bellomo, David B Everman, Julie R Jones, Roger E Stevenson, Raphael Bernier, Christian Gilissen, Rolph Pfundt, Susan M Hiatt, Gregory M Cooper, Jimmy L Holder, Daryl A Scott
BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder. Human mutation 41 (5) (2020)
Bo Yuan, Lei Wang, Pengfei Liu, Chad Shaw, Hongzheng Dai, Lance Cooper, Wenmiao Zhu, Stephanie A Anderson, Linyan Meng, Xia Wang, Yue Wang, Fan Xia, Rui Xiao, Alicia Braxton, Sandra Peacock, Eric Schmitt, Patricia A Ward, Francesco Vetrini, Weimin He, Theodore Chiang, Donna Muzny, Richard A Gibbs, Arthur L Beaudet, Amy M Breman, Janice Smith, Sau Wai Cheung, Carlos A Bacino, Christine M Eng, Yaping Yang, James R Lupski, Weimin Bi
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. Genetics in medicine : official journal of the American College of Medical Genetics 22 (10) (2020)
Philip M Boone, Scott Paterson, Kiana Mohajeri, Wenmiao Zhu, Casie A Genetti, Derek J C Tai, Neeharika Nori, Pankaj B Agrawal, Carlos A Bacino, Weimin Bi, Michael E Talkowski, Benjamin M Hogan, Lance H Rodan
Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome. American journal of medical genetics. Part A 182 (1) (2019)
Avinash V Dharmadhikari, Rajarshi Ghosh, Bo Yuan, Pengfei Liu, Hongzheng Dai, Sami Al Masri, Jennifer Scull, Jennifer E Posey, Allen H Jiang, Weimin He, Francesco Vetrini, Alicia A Braxton, Patricia Ward, Theodore Chiang, Chunjing Qu, Shen Gu, Chad A Shaw, Janice L Smith, Seema Lalani, Pawel Stankiewicz, Sau-Wai Cheung, Carlos A Bacino, Ankita Patel, Amy M Breman, Xia Wang, Linyan Meng, Rui Xiao, Fan Xia, Donna Muzny, Richard A Gibbs, Arthur L Beaudet, Christine M Eng, James R Lupski, Yaping Yang, Weimin Bi
Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases. Genome medicine 11 (1) (2019)
Brady Slater, Nasim Bekheirnia, Joseph Angelo, Weimin Bi, Michael C Braun, Mir Reza Bekheirnia
Nephronophthisis due to a novel DCDC2 variant in a patient from African-Caribbean descent: A case report. American journal of medical genetics. Part A 182 (3) (2019)
Magalie S Leduc, Marianne Mcguire, Suneeta Madan-Khetarpal, Damara Ortiz, Susan Hayflick, Kory Keller, Christine M Eng, Yaping Yang, Weimin Bi
De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities. Human genetics 137 (3) (2018)
Wenmiao Zhu, Jianli Li, Stella Chen, Jinglan Zhang, Francesco Vetrini, Alicia Braxton, Christine M Eng, Yaping Yang, Fan Xia, Kory L Keller, Leila Okinaka-Hu, Chung Lee, J Lloyd Holder, Weimin Bi
Two de novo novel mutations in one SHANK3 allele in a patient with autism and moderate intellectual disability. American journal of medical genetics. Part A 176 (4) (2018)
Sau Wai Cheung, Weimin Bi
Novel applications of array comparative genomic hybridization in molecular diagnostics. Expert review of molecular diagnostics 18 (6) (2018)

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Publication Activity (10 Years)

Top Topics

Top Venues

Weimin Bi (Weimen Bi)