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Publications by Weimin Bi

Bi-Allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

American Journal of Human Genetics
Genetics
2019English

A Duplication CNV That Conveys Traits Reciprocal to Metabolic Syndrome and Protects Against Diet-Induced Obesity in Mice and Men

PLoS Genetics
EvolutionEcologyGeneticsMolecular BiologyCancer ResearchSystematicsBehavior
2012English

Positive Predictive Value Estimates for Cell-Free Noninvasive Prenatal Screening From Data of a Large Referral Genetic Diagnostic Laboratory

American Journal of Obstetrics and Gynecology
GynecologyObstetrics
2017English

Erratum To: Haploinsufficiency of the E3 Ubiquitin-Protein Ligase Gene TRIP12 Causes Intellectual Disability With or Without Autism Spectrum Disorders, Speech Delay, and Dysmorphic Features

Human Genetics
Genetics
2017English

Neurodevelopmental and Neurobehavioral Characteristics in Males and Females With CDKL5 Duplications

European Journal of Human Genetics
Genetics
2014English

Microarray-Based Comparative Genomic Hybridization Using Sex-Matched Reference DNA Provides Greater Sensitivity for Detection of Sex Chromosome Imbalances Than Array-Comparative Genomic Hybridization With Sex-Mismatched Reference DNA

Journal of Molecular Diagnostics
Forensic MedicinePathologyMolecular Medicine
2009English

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