Genome interpretation using in silico predictors of variant impact P Katsonis, K Wilhelm, A Williams, O Lichtarge Human genetics 141 (10), 1549-1577, 2022 | 59 | 2022 |
NBSTRN tools to advance newborn screening research and support newborn screening stakeholders K Chan, Z Hu, LW Bush, H Cope, IA Holm, SF Kingsmore, K Wilhelm, ... International journal of neonatal screening 9 (4), 63, 2023 | 11 | 2023 |
RNA-seq analysis of gene expression profiles in isolated stria vascularis from wild-type and Alport mice reveals key pathways underling Alport strial pathogenesis B Dufek, DT Meehan, D Delimont, K Wilhelm, G Samuelson, R Coenen, ... PloS one 15 (8), e0237907, 2020 | 11 | 2020 |
Functional variants identify sex-specific genes and pathways in Alzheimer’s Disease T Bourquard, K Lee, I Al-Ramahi, M Pham, D Shapiro, Y Lagisetty, ... Nature Communications 14 (1), 2765, 2023 | 10 | 2023 |
Using long-term follow-up data to classify genetic variants in newborn screened conditions K Wilhelm, MJ Edick, SA Berry, M Hartnett, A Brower Frontiers in Genetics 13, 859837, 2022 | 5 | 2022 |
Glomerular basement membrane deposition of collagen α1 (III) in A lport glomeruli by mesangial filopodia injures podocytes via aberrant signaling through DDR1 and integrin α2β1 J Madison, K Wilhelm, DT Meehan, D Delimont, G Samuelson, ... The Journal of pathology 258 (1), 26-37, 2022 | 3 | 2022 |
Epigenetic age acceleration among survivors of pediatric medulloblastoma and primitive neuroectodermal tumor RD Harris, MA Richard, MMJ Gramatges, K Wilhelm, ME Scheurer, ... Pediatric hematology and oncology 40 (4), 407-411, 2023 | 2 | 2023 |
Ramipril therapy in integrin α1‐null, autosomal recessive Alport mice triples lifespan: mechanistic clues from RNA‐seq analysis J Madison, K Wilhelm, DT Meehan, MA Gratton, D Vosik, G Samuelson, ... The Journal of Pathology 262 (3), 296-309, 2024 | 1 | 2024 |
Evolutionary Theory and Machine Learning: New Inroads Into Sex‐specific AD Susceptibility Genes and Pathways Significantly Improve Risk Prediction I Al‐Ramahi, J Asmussen, J Botas, P Katsonis, Y Lagiesetty, KD Lee, ... Alzheimer's & Dementia 20, e087889, 2024 | | 2024 |
Functional Variants Identify Sex Specific Genes and Pathways in Alzheimer’s Disease KD Lee, T Bourquard, I Al‐Ramahi, M Pham, D Shapiro, Y Lagiesetty, ... Alzheimer's & Dementia 19, e076662, 2023 | | 2023 |
Statistical Physics of Fitness Landscapes Finds Risk Genes Specific to Different AD Genetic Backgrounds Y Lagiesetty, M Samieinasab, I Al‐Ramahi, K Wilhelm, P Katsonis, ... Alzheimer's & Dementia 19, e076960, 2023 | | 2023 |
Ramipril Therapy in Integrin α1-Null ARAS Mice Triples Lifespan: Mechanistic Clues From RNA-Seq Analysis: FR-PO692 DE Cosgrove, JD Madison, DT Meehan, KO Wilhelm, MA Gratton, ... Journal of the American Society of Nephrology 33 (11S), 512, 2022 | | 2022 |
A pilot study of epigenetic age acceleration and neurocognitive outcomes among survivors of pediatric medulloblastoma KO Wilhelm, PJ Lupo, KP Raghubar, LS Kahalley, M Chintagumpala, ... Cancer Research 81 (13_Supplement), 3032-3032, 2021 | | 2021 |
GBM Deposition of Collagen 3α1 in Alport Glomeruli by Mesangial Filopodia Injure Podocytes via Aberrant Signaling Through DDR1 and Integrin α2β1: PO1708 DE Cosgrove, K Wilhelm, JD Madison, DT Meehan, DC Delimont Journal of the American Society of Nephrology 31 (10S), 537, 2020 | | 2020 |