Chelsea Lowther

A structural variation reference for medical and population genetics

Ryan L. Collins, Harrison Brand, Konrad J. Karczewski et al. · Nature · 2020 · 1.1K citations · Full text

A cross-disorder dosage sensitivity map of the human genome

Ryan L. Collins, Joseph Glessner, Eleonora Porcu et al. · Cell · 2022 · 341 citations · Full text

Genetics, Pharmacogenomics, Genomics +3

Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays

Gregory Costain, A. C. Lionel, Daniele Merico et al. · Human Molecular Genetics · 2013 · 134 citations · Full text

Genetics, Genetic Epidemiology, Human Polymorphism +16

Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion

Isabelle Cleynen, Worrawat Engchuan, Matthew S. Hestand et al. · Molecular Psychiatry · 2020 · 132 citations · Full text

Psychiatry, Risk Prediction, Psychotic Disorder +8

Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies

Xuefang Zhao, Ryan L. Collins, Wan‐Ping Lee et al. · The American Journal of Human Genetics · 2021 · 127 citations · Full text

Long-read Sequencing, Dna Sequencing, Functional Genomics +15