A structural variation reference for medical and population genetics

• Population-level structural variant characterization using pangenome graphs

  2026 Nature Genetics article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities cited by 1 patent

  4

  citations
• Familial cerebral cavernous malformations caused by a novel germline structural variant in the KRIT1 gene

  2025 Neurogenetics article Medicine Vascular Malformations Diagnosis and Treatment Open access

  0

  citations
• Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

  2023 Nature Communications article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access

  59

  citations
• Dam Assisted Fluorescent Tagging of Chromatin Accessibility (DAFCA) for Optical Genome Mapping in Nanochannel Arrays

  2023 ACS Nano article Engineering Nanopore and Nanochannel Transport Studies Open access

  7

  citations
• Molecular determinants of outcomes in relapsed or refractory mantle cell lymphoma treated with ibrutinib or temsirolimus in the MCL3001 (RAY) trial

  2022 Leukemia article Medicine Lymphoma Diagnosis and Treatment

  11

  citations
• Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders

  2022 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access

  11

  citations
• Rare germline copy number variants (CNVs) and breast cancer risk

  2022 Communications Biology article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access

  15

  citations
• Genetic epidemiology approach to estimating birth incidence and current disease prevalence for rhizomelic chondrodysplasia punctata

  2021 Orphanet Journal of Rare Diseases article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  16

  citations
• Rare Copy Number Variants (CNVs) and Breast Cancer Risk

  2021 Research Square preprint Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access

  0

  citations
• Rare copy number variants (CNVs) and breast cancer risk

  2021 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access

  0

  citations
• Familial Occurrence of Adult Granulosa Cell Tumors: Analysis of Whole-Genome Germline Variants

  2021 Cancers article Medicine Ovarian cancer diagnosis and treatment Open access

  5

  citations

11 results