C. Towne

发表

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

J. Lupski, A. Connolly, S. Batish, 2009, Nature Genetics.

of CD8 T Cell Responses in Antigen Presentation and the Generation Analysis of the Role of Bleomycin Hydrolase

K. Rock, J. Lazo, L. Watkin, 2007 .

GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot–Marie–Tooth disease

J. Lupski, S. Batish, C. Towne, 2010, Neurogenetics.

Réactions de capture

C. Towne, Mark Umbarger, Gregory J. Porreca, 2013 .

Leucine Aminopeptidase Is Not Essential for Trimming Peptides in the Cytosol or Generating Epitopes for MHC Class I Antigen Presentation1

K. Rock, A. Murphy, G. Yancopoulos, 2005, The Journal of Immunology.

Next-generation DNA sequencing of HEXA: a step in the right direction for carrier screening

G. Porreca, J. Hoffman, B. Bishop, 2013, Molecular genetics & genomic medicine.

Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia

J. Lupski, C. Carvalho, Philip M Boone, 2011, Genetics in Medicine.

Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.

J. Lupski, F. Baas, P. Liu, 2010, American journal of human genetics.

Next-generation carrier screening

Marcia M. Nizzari, G. Church, Niru Chennagiri, 2013, Genetics in Medicine.

Next-generation carrier screening The Harvard community has made this article openly available. Please share how this access benefits you. Your story matters

Marcia M. Nizzari, G. Church, Niru Chennagiri, 2014 .

Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4.

L. Biesecker, G. Coppola, M. Meisler, 2011, Brain : a journal of neurology.

Analysis of the Role of Cytosolic Aminopeptidases in the Generation of MHC-Class I Presented Peptides: a Dissertation

C. Towne, 2006 .

Puromycin-Sensitive Aminopeptidase Limits MHC Class I Presentation in Dendritic Cells but Does Not Affect CD8 T Cell Responses during Viral Infections1

K. Rock, A. Murphy, G. Yancopoulos, 2008, The Journal of Immunology.

Endoplasmic reticulum aminopeptidase 1 (ERAP1) trims MHC class I-presented peptides in vivo and plays an important role in immunodominance.

K. Rock, C. Towne, M. Brehm, 2006, Proceedings of the National Academy of Sciences of the United States of America.

Analysis of the Role of Bleomycin Hydrolase in Antigen Presentation and the Generation of CD8 T Cell Responses1

K. Rock, J. Lazo, L. Watkin, 2007, The Journal of Immunology.

Generating Epitopes for MHC Class I Trimming Peptides in the Cytosol or Leucine Aminopeptidase Is Not Essential for Yancopoulos

K. Rock, A. Murphy, G. Yancopoulos, 2005 .