Timothy A. Graubert

wuHMM: a robust algorithm to detect DNA copy number variation using long oligonucleotide microarray data (2008)

Cahan, Patrick, Godfrey, Laura E., Eis, Peggy S., Richmond, Todd A., Selzer, Rebecca R., Brent, Michael, ...

Copy number variants (CNVs) are currently defined as genomic sequences that are polymorphic in copy number and range in length from 1000 to several million base pairs. Among current array-based CNV...

A High-Resolution Map of Segmental DNA Copy Number Variation in the Mouse Genome (2007)

Timothy A. Graubert, Patrick Cahan, Deepa Edwin, Rebecca R. Selzer, Todd A. Richmond, Peggy S. Eis, ...

Submicroscopic (less than 2 Mb) segmental DNA copy number changes are a recently recognized source of genetic variability between individuals. The biological consequences of copy number variants...

Recombinant retroviral systems for the analysis of drug resistant HIV (1993)

Strair, Roger K., Median, Daniel J., Nelson, Carol J., Graubert, Timothy A., Mellors, John W.

Two recombinant retroviral systems are described that can be used to analyze antiretroviral drug activity and HIV breakthrough (replication in the presence of thedrug). The first system utilizes a...

A pilot study of high-throughput, sequence-based mutational profiling of primary human acute myeloid leukemia cell genomes

Ley, Timothy J., Minx, Patrick J., Walter, Matthew J., Ries, Rhonda E., Sun, Hui, McLellan, Michael, ...

In this pilot study, we used primary human acute myeloid leukemia (AML) cell genomes as templates for exonic PCR amplification, followed by high-throughput resequencing, analyzing ≈7 million base...

Stem cell expression of the AML1/ETO fusion protein induces a myeloproliferative disorder in mice

Fenske, Timothy S., Pengue, Gina, Mathews, Vikram, Hanson, Piia T., Hamm, Sarah E., Riaz, Noor, ...

The t(8;21)(q22;q22) translocation, present in 10-15% of acute myeloid leukemia (AML) cases, generates the AML1/ETO fusion protein. To study the role of AML1/ETO in the pathogenesis of AML, we used...

A pilot study of high-throughput, sequence-based mutational profiling of primary human acute myeloid leukemia cell genomes

Ley, Timothy J., Minx, Patrick J., Walter, Matthew J., Ries, Rhonda E., Sun, Hui, McLellan, Michael, ...

In this pilot study, we used primary human acute myeloid leukemia (AML) cell genomes as templates for exonic PCR amplification, followed by high-throughput resequencing, analyzing ≈7 million base...

Stem cell expression of the AML1/ETO fusion protein induces a myeloproliferative disorder in mice

Fenske, Timothy S., Pengue, Gina, Mathews, Vikram, Hanson, Piia T., Hamm, Sarah E., Riaz, Noor, ...

The t(8;21)(q22;q22) translocation, present in 10-15% of acute myeloid leukemia (AML) cases, generates the AML1/ETO fusion protein. To study the role of AML1/ETO in the pathogenesis of AML, we used...

A High-Resolution Map of Segmental DNA Copy Number Variation in the Mouse Genome

Graubert, Timothy A, Cahan, Patrick, Edwin, Deepa, Selzer, Rebecca R, Richmond, Todd A, Eis, Peggy S, ...

Submicroscopic (less than 2 Mb) segmental DNA copy number changes are a recently recognized source of genetic variability between individuals. The biological consequences of copy number variants...

wuHMM: a robust algorithm to detect DNA copy number variation using long oligonucleotide microarray data

Cahan, Patrick, Godfrey, Laura E., Eis, Peggy S., Richmond, Todd A., Selzer, Rebecca R., Brent, Michael, ...

Copy number variants (CNVs) are currently defined as genomic sequences that are polymorphic in copy number and range in length from 1000 to several million base pairs. Among current array-based CNV...

Distinct patterns of mutations occurring in de novo AML versus AML arising in the setting of severe congenital neutropenia

Link, Daniel C., Kunter, Ghada, Kasai, Yumi, Zhao, Yu, Miner, Tracie, McLellan, Michael D., ...

Severe congenital neutropenia (SCN) is an inborn disorder of granulopoiesis. Like most other bone marrow failure syndromes, it is associated with a marked propensity to transform into a...

Integrated Genomic Analysis Implicates Haploinsufficiency of Multiple Chromosome 5q31.2 Genes in De Novo Myelodysplastic Syndromes Pathogenesis

Graubert, Timothy A., Payton, Michelle A., Shao, Jin, Walgren, Richard A., Monahan, Ryan S., Frater, John L., ...

Deletions spanning chromosome 5q31.2 are among the most common recurring cytogenetic abnormalities detectable in myelodysplastic syndromes (MDS). Prior genomic studies have suggested that...

Somatic mutations and germline sequence variants in the expressed tyrosine kinase genes of patients with de novo acute myeloid leukemia

Tomasson, Michael H., Xiang, Zhifu, Walgren, Richard, Zhao, Yu, Kasai, Yumi, Miner, Tracie, ...

Activating mutations in tyrosine kinase (TK) genes (eg, FLT3 and KIT) are found in more than 30% of patients with de novo acute myeloid leukemia (AML); many groups have speculated that mutations in...

Identification of somatic JAK1 mutations in patients with acute myeloid leukemia

Xiang, Zhifu, Zhao, Yu, Mitaksov, Vesselin, Fremont, Daved H., Kasai, Yumi, Molitoris, AnnaLynn, ...

Somatic mutations in JAK2 are frequently found in myeloproliferative diseases, and gain-of-function JAK3 alleles have been identified in M7 acute myeloid leukemia (AML), but a role for JAK1 in AML...

Acquired copy number alterations in adult acute myeloid leukemia genomes

Walter, Matthew J., Payton, Jacqueline E., Ries, Rhonda E., Shannon, William D., Deshmukh, Hrishikesh, Zhao, Yu, ...

Cytogenetic analysis of acute myeloid leukemia (AML) cells has accelerated the identification of genes important for AML pathogenesis. To complement cytogenetic studies and to identify genes altered...

Quantitative trait loci associated with susceptibility to therapy-related acute murine promyelocytic leukemia in hCG-PML/RARA transgenic mice

Funk, Ryan K., Maxwell, Taylor J., Izumi, Masayo, Edwin, Deepa, Kreisel, Friederike, Ley, Timothy J., ...

Therapy-related acute myelogenous leukemia (t-AML) is an important late adverse effect of alkylator chemotherapy. Susceptibility to t-AML has a genetic component, yet specific genetic variants that...