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Human Genetics|May 6, 2015
Juvenile myelomonocytic leukemia due to a germline CBL Y371C mutation: 35-year follow-up of a large familyAnand Pathak, Alexander Pemov, Mary L McMaster, et al.
Haematologica|January 2, 2016
Whole exome sequencing reveals a C-terminal germline variant in CEBPA-associated acute myeloid leukemia: 45-year follow up of a large familyAnand Pathak, Katja Seipel, Alexander Pemov, et al.
Science Advances|February 1, 2021
Genetic analysis of amyotrophic lateral sclerosis identifies contributing pathways and cell typesSara Saez-Atienzar, Sara Bandres-Ciga, Rebekah G Langston, et al.
Biorxiv : the Preprint Server for Biology|January 30, 2023
Scalable Nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylationMikhail Kolmogorov, Kimberley J Billingsley, Mira Mastoras, et al.
Nature Methods|September 14, 2023
Scalable Nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylationMikhail Kolmogorov, Kimberley J Billingsley, Mira Mastoras, et al.
Neuron|November 26, 2020
Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral SclerosisRamita Dewan, Ruth Chia, Jinhui Ding, et al.
Cell Genomics|June 30, 2023
Genome-wide structural variant analysis identifies risk loci for non-Alzheimer's dementiasKarri Kaivola, Ruth Chia, Jinhui Ding, et al.
Cell Genomics|October 22, 2024
Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic dataSara Saez-Atienzar, Cleide Dos Santos Souza, Ruth Chia, et al.
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