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Nature|May 11, 2022
Genetic and chemotherapeutic influences on germline hypermutationJoanna Kaplanis, Benjamin Ide, Rashesh Sanghvi, et al.American Journal of Human Genetics|October 9, 2021
Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disordersEugene J Gardner, Alejandro Sifrim, Sarah J Lindsay, et al.Human Mutation|September 4, 2013
UBE2QL1 is disrupted by a constitutional translocation associated with renal tumor predisposition and is a novel candidate renal tumor suppressor geneNaomi C Wake, Christopher J Ricketts, Mark R Morris, et al.American Journal of Medical Genetics. Part A|September 29, 2011
Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridizationÉrika L Freitas, Susan M Gribble, Milena Simioni, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 12, 2018
Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disordersCaroline F Wright, Jeremy F McRae, Stephen Clayton, et al.Genes, Chromosomes & Cancer|January 6, 2007
Characterization of a 3;6 translocation associated with renal cell carcinomaRebecca E Foster, Mahera Abdulrahman, Mark R Morris, et al.Nature Medicine|March 15, 2022
Single-cell transcriptomics reveals a distinct developmental state of KMT2A-rearranged infant B-cell acute lymphoblastic leukemiaEleonora Khabirova, Laura Jardine, Tim H H Coorens, et al.Nature Communications|November 28, 2024
COVID-19 progression and convalescence in common variable immunodeficiency patients show dysregulated adaptive immune responses and persistent type I interferon and inflammasome activationJavier Rodríguez-Ubreva, Josep Calafell-Segura, Celia L Calvillo, et al.Nature Communications|November 20, 2024
HOX gene expression in the developing human spineJohn E G Lawrence, Kenny Roberts, Elizabeth Tuck, et al.Nature Communications|October 13, 2019
Contribution of retrotransposition to developmental disordersEugene J Gardner, Elena Prigmore, Giuseppe Gallone, et al.Pageof 5