By Professor Sarah Kay Kummerfeld

Preprints

Kahana-Edwin S; Torpy J; Cain LE; Mullins A; McCowage G; Woodfield SE; Vasudevan SA; Shea DPT; Minoche AE; Kummerfeld S; Goldstein LD; Karpelowsky J, A quantitative universal NGS-based ctDNA assay for hepatoblastoma, http://dx.doi.org/10.1101/2022.09.20.22279947

Venkat A; Youlten SE; San Juan BP; Purcell C; Amodio M; Burkhardt DB; Benz A; Holst J; McCool C; Mollbrink A; Lundeberg J; van Dijk D; Goldstein LD; Kummerfeld S; Krishnaswamy S; Chaffer CL, AAnet resolves a continuum of spatially-localized cell states to unveil tumor complexity, http://dx.doi.org/10.1101/2024.05.11.593705

Minoche AE; Lundie B; Peters GB; Ohnesorg T; Pinese M; Thomas DM; Zankl A; Roscioli T; Schonrock N; Kummerfeld S; Burnett L; Dinger ME; Cowley MJ, ClinSV: Clinical grade structural and copy number variant detection from whole genome sequencing data, http://dx.doi.org/10.1101/2020.06.30.20143453

Martinez CDP; Zeraati ; Rouet R; Mazigi O; Gloss B; Chan C-L; Bryan TM; Smith NM; Dinger ME; Kummerfeld S; Christ D, Human genomic DNA is widely interspersed with i-motif structures, http://dx.doi.org/10.1101/2022.04.14.488274

Watson E; Qian G; Ravishankar S; Hobbs M; Copty J; Yu C; Kummerfeld S; Liang C; Lacaze P; Davis RL; Sue CM, Mitochondrial Disease variation in healthy older adults: a genotype-phenotype assessment linking pathogenic variants and mitochondrial constraint, http://dx.doi.org/10.64898/2026.06.24.26356498

Watson E; Qian G; Ravishankar S; Hobbs M; Copty J; Yu C; Kummerfeld S; Liang C; Lacaze P; Davis RL; Sue CM, Pathogenic mitochondrial genome variation, heteroplasmy thresholding and mitochondrial constraint measures in a healthy older cohort, http://dx.doi.org/10.64898/2026.06.24.26356403

Watson EC; Ravishankar S; Hobbs M; Copty J; Yu C; Kummerfeld S; Liang C; Lacaze P; Davis RL; Sue CM, Population nuclear mitochondrial disease risk estimated from nuclear disease gene variants in a healthy older cohort, http://dx.doi.org/10.64898/2026.05.14.26353160

Abed M; Verschueren E; Budayeva H; Liu P; Kirkpatrick DS; Reja R; Kummerfeld SK; Webster JD; Gierke S; Reichelt M; Anderson KR; Newman RJ; Roose-Girma M; Modrusan Z; Pektas H; Maltepe E; Newton K; Dixit VM, The Gag Protein PEG10 Binds to RNA and Regulates Trophoblast Stem Cell Lineage Specification, http://dx.doi.org/10.1101/572016

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