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Genetics

D-Index
61
Citations
14930
World Ranking
3053
National Ranking
1334

Overview

Weimin Bi is affiliated with Baylor College of Medicine in the United States, contributing extensively to research in biochemistry, genetics, and molecular biology. Their scientific work spans key areas including genetics, molecular biology, and plant science, with additional involvement in oncology and surgery.

Their research interests focus on genomic variations and chromosomal abnormalities, genomics and rare diseases, genetics and neurodevelopmental disorders, congenital heart defects research, chromosomal and genetic variations, RNA and protein synthesis mechanisms, and prenatal screening and diagnostics.

Recent papers authored or co-authored by Weimin Bi highlight a range of topics within these areas:

  • CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels (2020, Genetics in Medicine)
  • Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluations (2022, Journal of Allergy and Clinical Immunology)
  • The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation (2022, Genome Medicine)
  • CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity (2021, Epilepsia)
  • Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD (2020, Journal of Medical Genetics)

Frequent co-authors collaborating with Weimin Bi include:

  • Jill A. Rosenfeld
  • Pengfei Liu
  • James R. Lupski
  • Bo Yuan
  • Hongzheng Dai

Key publication venues where Weimin Bi's work appears multiple times are:

  • American Journal of Medical Genetics Part A
  • Genetics in Medicine
  • Genome Medicine
  • bioRxiv (Cold Spring Harbor Laboratory)
  • Genetics in Medicine Open

The mixture of publications across these venues and topics reflects an active engagement in advancing understanding of genetic disorders, genomic variation, and their clinical applications, particularly in the context of rare diseases and neurodevelopmental conditions.

Best Publications

  • Sox9 is required for cartilage formation.

    Weimin Bi;Jian Min Deng;Zhaoping Zhang;Richard R. Behringer

  • Haploinsufficiency of Sox9 results in defective cartilage primordia and premature skeletal mineralization

    Weimin Bi;Wendong Huang;Deanne J. Whitworth;Jian Min Deng

  • Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

    Jennifer E. Posey;Tamar Harel;Pengfei Liu;Jill A. Rosenfeld

  • Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements

    Pengfei Liu;Ayelet Erez;Sandesh C.Sreenath Nagamani;Shweta U. Dhar

  • High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

    Fadi F. Hamdan;Candace T. Myers;Patrick Cossette;Philippe Lemay

  • Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype.

    Lorraine Potocki;Weimin Bi;Diane Treadwell-Deering;Claudia M. B. Carvalho

  • Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management

    Linyan Meng;Linyan Meng;Mohan Pammi;Anirudh Saronwala;Pilar Magoulas;Pilar Magoulas

  • Detection of clinically relevant exonic copy‐number changes by array CGH

    Philip M. Boone;Carlos A. Bacino;Chad A. Shaw;Patricia A. Eng

  • Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders

    Ian M. Campbell;Bo Yuan;Caroline Robberecht;Rolph P. Pfundt

  • Disruption of ROBO2 Is Associated with Urinary Tract Anomalies and Confers Risk of Vesicoureteral Reflux

    Weining Lu;Weining Lu;Albertien M. Van Eerde;Xueping Fan;Fabiola Quintero-Rivera

  • Increased LIS1 expression affects human and mouse brain development

    Weimin Bi;Tamar Sapir;Oleg A. Shchelochkov;Feng Zhang

  • Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases.

    Ignatia B. Van Den Veyver;Ankita Patel;Chad A. Shaw;Amber N. Pursley

  • Reanalysis of Clinical Exome Sequencing Data

    Pengfei Liu;Linyan Meng;Elizabeth A. Normand;Fan Xia

  • Lessons learned from additional research analyses of unsolved clinical exome cases

    Mohammad K. Eldomery;Mohammad K. Eldomery;Zeynep Coban-Akdemir;Tamar Harel;Jill A. Rosenfeld

  • USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder.

    Yi Heng Hao;Michael D. Fountain;Klementina Fon Tacer;Fan Xia

  • Aneuploidy as a mechanism for stress-induced liver adaptation

    Andrew W. Duncan;Amy E. Hanlon Newell;Weimin Bi;Milton J. Finegold

  • DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage

    Michael C. Zody;Manuel Garber;David J. Adams;Ted Sharpe

  • Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory.

    Andrea K. Petersen;Sau Wai Cheung;Janice L. Smith;Weimin Bi

  • NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits

    Piotr Dittwald;Piotr Dittwald;Tomasz Gambin;Tomasz Gambin;Przemyslaw Szafranski;Jian Li

  • Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature

    Amy Breman;Amber N. Pursley;Patricia Hixson;Weimin Bi

Frequent Co-Authors

Christine M. Eng
Christine M. Eng Baylor College of Medicine
Yaping Yang
Yaping Yang AiLife Diagnostics, Inc.
Seema R. Lalani
Seema R. Lalani Baylor College of Medicine
Fan Xia
Fan Xia Baylor College of Medicine
James R. Lupski
James R. Lupski Baylor College of Medicine
Chad A. Shaw
Chad A. Shaw Baylor College of Medicine
Jill A. Rosenfeld
Jill A. Rosenfeld Baylor College of Medicine
Carlos A. Bacino
Carlos A. Bacino Baylor College of Medicine
Richard A. Gibbs
Richard A. Gibbs Baylor College of Medicine
Tomasz Gambin
Tomasz Gambin Warsaw University of Technology

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