Bernabé I. Bustos

Variants in ABCG8 and TRAF3 genes confer risk for gallstone disease in admixed Latinos with Mapuche Native American ancestry

Bernabé I. Bustos, Eduardo Pérez‐Palma, Stephan Buch et al. · Scientific Reports · 2019 · 110 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Loss‐of‐Function Variants in <scp>HOPS</scp> Complex Genes <scp><i>VPS16</i></scp> and <scp><i>VPS41</i></scp> Cause Early Onset Dystonia Associated with Lysosomal Abnormalities

Dora Steel, Michael Zech, Chen Zhao et al. · Annals of Neurology · 2020 · 110 citations · Full text

Life Sciences, Genetics, Neurology +17

Homozygous might be hemizygous: CRISPR/Cas9 editing in iPSCs results in detrimental on-target defects that escape standard quality controls

Dina Simkin, Vasileios Papakis, Bernabé I. Bustos et al. · Stem Cell Reports · 2022 · 65 citations · Full text

Life Sciences, Genetics, Molecular Biology +14

Assessing the relationship between monoallelic <i>PRKN</i> mutations and Parkinson’s risk

Steven Lubbe, Bernabé I. Bustos, Jing Hu et al. · Human Molecular Genetics · 2021 · 61 citations · Full text

Life Sciences, Genetics, Neurology +13

A novel functional low-density lipoprotein receptor-related protein 6 gene alternative splice variant is associated with Alzheimer's disease

Marcelo Alarcón, Matías A. Medina, Qubai Hu et al. · Neurobiology of Aging · 2012 · 51 citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +12