B. Blumenstiel

发表

The Structure of Haplotype Blocks in the Human Genome

S. Gabriel, M. Daly, E. Lander, 2002, Science.

A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms

M. Daly, G. Marth, E. Lander, 2001, Nature.

A second generation human haplotype map of over 3.1 million SNPs

Zhaohui S. Qin, Gudmundur A. Thorisson, L. M. Sung, 2007, Nature.

Genome-Wide Association Analysis Identifies Loci for Type 2 Diabetes and Triglyceride Levels

Marcia M. Nizzari, R. Saxena, S. Gabriel, 2007, Science.

High-throughput detection of actionable genomic alterations in clinical tumor samples by targeted, massively parallel sequencing.

Nikhil Wagle, Levi A Garraway, William C Hahn, 2012, Cancer discovery.

Two independent alleles at 6q23 associated with risk of rheumatoid arthritis

S. Gabriel, M. Daly, Annette Lee, 2007, Nature Genetics.

Whole-genome association study of bipolar disorder

S. Gabriel, M. Daly, B. Blumenstiel, 2008, Molecular Psychiatry.

Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder

Manuel A. R. Ferreira, S. Gabriel, M. Daly, 2008, Nature Genetics.

A scalable, fully automated process for construction of sequence-ready human exome targeted capture libraries

Dennis C. Friedrich, T. Fennell, K. Cibulskis, 2011, Genome Biology.

Whole exome sequencing of circulating tumor cells provides a window into metastatic prostate cancer

Aviv Regev, Kristian Cibulskis, Todd R. Golub, 2014, Nature Biotechnology.

Using viral load and epidemic dynamics to optimize pooled testing in resource constrained settings

A. Regev, B. Blumenstiel, B. Cleary, 2020, medRxiv.

Development and Validation of a Mass Spectrometry-Based Assay for the Molecular Diagnosis of Mucin-1 Kidney Disease.

N. Lennon, S. Gabriel, A. Gnirke, 2016, The Journal of molecular diagnostics : JMD.

Donor Clonal Hematopoiesis and Recipient Outcomes After Transplantation

Tyler J Dougan, N. Lennon, B. Blumenstiel, 2021, medRxiv.

Cost-efficient whole genome-sequencing using novel mostly natural sequencing-by-synthesis chemistry and open fluidics platform

N. Lennon, E. Banks, B. Blumenstiel, 2022, bioRxiv.

Sensitive Detection of Minimal Residual Disease in Patients Treated for Early-Stage Breast Cancer

J. C. Love, N. Lennon, T. Golub, 2020, Clinical Cancer Research.

Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease.

B. Blumenstiel, K. Hodaňová, O. Viklicky, 2018, Journal of the American Society of Nephrology : JASN.

Pooling for SARS-CoV2 Surveillance: Validation and Strategy for Implementation in K-12 Schools

N. Lennon, A. Monaco, B. Blumenstiel, 2020, Frontiers in Public Health.

TITLE: Sensitive detection of minimal residual disease in patients treated for early- 1 stage breast cancer 2

Nikhil, J. C. Love, N. Lennon, 2020 .

Transmission from vaccinated individuals in a large SARS-CoV-2 Delta variant outbreak

Katherine C DeRuff, Catherine M. Brown, J. Grimsby, 2021, Cell.

Evidence of transmission from fully vaccinated individuals in a large outbreak of the SARS-CoV-2 Delta variant in Provincetown, Massachusetts

Katherine C DeRuff, Pardis C Sabeti, Catherine M. Brown, 2021, medRxiv.

Using viral load and epidemic dynamics to optimize pooled testing in resource-constrained settings

J. A. Hay, A. Regev, B. Blumenstiel, 2020, Science Translational Medicine.

Mutations causing medullary cystic kidney disease type 1 (MCKD1) lie in a large VNTR in MUC1 missed by massively parallel sequencing

Eric S. Lander, Aviv Regev, Irit Gat-Viks, 2013, Nature Genetics.

hi gh-t h roughput Detection of ac tionable Genomic al terations in cl inical t u mor s a mples by t a rgeted, Massively Parallel s e quencing

Matthew J. Davis, S. Gabriel, W. Hahn, 2012 .

The genomic landscape of pediatric Ewing sarcoma.

A. McKenna, A. Sivachenko, K. Cibulskis, 2014, Cancer discovery.

EGFR variant heterogeneity in glioblastoma resolved through single-nucleus sequencing.

J. C. Love, M. Meyerson, B. Blumenstiel, 2014, Cancer discovery.

Targeted Exon Sequencing by In‐Solution Hybrid Selection

T. Fennell, A. Kernytsky, K. Cibulskis, 2010, Current protocols in human genetics.

Abstract 993: Whole exome sequencing of CTCs as a window into metastatic cancer

J. C. Love, K. Cibulskis, A. Regev, 2014 .

Cost-efficient whole genome-sequencing using novel mostly natural sequencing-by-synthesis chemistry and open fluidics platform

N. Lennon, E. Banks, B. Blumenstiel, 2022, bioRxiv.

DGAT1 mutation is linked to a congenital diarrheal disorder.

Robert V Farese, S. Gabriel, M. Daly, 2012, The Journal of clinical investigation.

Using viral load and epidemic dynamics to optimize pooled testing in resource-constrained settings

A. Regev, B. Blumenstiel, B. Cleary, 2021, Science Translational Medicine.

NpgRJ_Ng_2007-27 1..6

S. Gabriel, M. Daly, Annette Lee, 2007 .

DNMT3A clonal Hematopoiesis in Older Donors Is Associated with Improved Survival in Recipients after Allogeneic Hematopoietic Cell Transplant

N. Lennon, B. Blumenstiel, J. Ritz, 2020 .

Collaborative genome-wide association analysis of 10,596 individuals supports a role for Ankyrin-G (ANK3) and the alpha-1C subunit of the L-type voltage-gated calcium channel (CACNA1C) in bipolar disorder

N. Craddock, B. Blumenstiel, K. Gordon-Smith, 2008 .

Outcomes of Patient Self-Referral for the Diagnosis of Several Rare Inherited Kidney Diseases

B. Blumenstiel, Elizabeth Swain, K. Hodaňová, 2019, Genetics in Medicine.

Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder

S. Gabriel, M. Daly, D. Collier, 2008, Nature Genetics.

Whole exome sequencing of circulating tumor cells provides a window into metastatic prostate cancer

J. C. Love, K. Cibulskis, A. Regev, 2014, Nature Biotechnology.

DGAT1 mutation is linked to a congenital diarrheal disorder.

Robert V Farese, S. Gabriel, M. Daly, 2012, The Journal of clinical investigation.

Egfr Variant Heterogeneity in Glioblastoma Resolved through Single- Nucleus Sequencing and the Sontag Foundation and to M.m. from Nci Ro1ca116020

B. Blumenstiel, J. Francis, Joonil Jung, 2022 .