Molecular Genetics Core | Publications & Awards

Note: List of publications from researchers at Boston Children’s Hospital who used the core facility.

2018/2019 papers

Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease.

Kim J, Hu C, Moufawad El Achkar C, Black LE, Douville J, Larson A, Pendergast MK, Goldkind SF, Lee EA, Kuniholm A, Soucy A, Vaze J, Belur NR, Fredriksen K, Stojkovska I, Tsytsykova A, Armant M, DiDonato RL, Choi J, Cornelissen L, Pereira LM, Augustine EF, Genetti CA, Dies K, Barton B, Williams L, Goodlett BD, Riley BL, Pasternak A, Berry ER, Pflock KA, Chu S, Reed C, Tyndall K, Agrawal PB, Beggs AH, Grant PE, Urion DK, Snyder RO, Waisbren SE, Poduri A, Park PJ, Patterson A, Biffi A, Mazzulli JR, Bodamer O, Berde CB, Yu TW

N Engl J Med. 2019 Oct 24;381(17):1644-1652. doi: 10.1056/NEJMoa1813279. Epub 2019 Oct 9.

PMID: 3159703

Different neuronal activity patterns induce different gene expression programs

Kelsey M. Tyssowski,1,6 Nicholas R. DeStefino,1,6 Jin-Hyung Cho,1 Carissa J. Dunn,2 Robert G. Poston,2 Crista E. Carty,3 Richard D. Jones,1 Sarah M. Chang,1 Palmyra Romeo,4 Mary K. Wurzelmann,4 James M. Ward,5 Mark L. Andermann,3 Ramendra N. Saha,2,4,7 Serena M. Dudek,4,7 and Jesse M. Gray1,7,8

Transcriptional Profiling of Articular Cartilage in a Porcine Model of Early Post-traumatic Osteoarthritis

Jakob T. Sieker,1 Benedikt L. Proffen,1 Kimberly A. Waller,2 Kaitlyn Chin,2 Naga P. Karamchedu,2 Matthew R. Akelman,2 Gabriel S. Perrone,1 Ata M. Kiapour,1 Johannes Konrad,1 Martha M. Murray,1 and Braden C. Fleming2

Transcriptional Profiling of Synovium in a Porcine Model of Early Post-traumatic Osteoarthritis

Jakob T. Sieker,1 Benedikt L. Proffen,1 Kimberly A. Waller,2 Kaitlyn E. Chin,2 Naga Padmini Karamchedu,2 Matthew R. Akelman,2 Gabriel S. Perrone,1 Ata M. Kiapour,1 Johannes Konrad,1 Braden C. Fleming,2 and Martha M. Murray1

Multisystem Analysis of Mycobacterium tuberculosis Reveals Kinase-Dependent Remodeling of the Pathogen-Environment Interface

Xavier Carette, John Platig, David C. Young, Michaela Helmel, Albert T. Young, Zhe Wang, Lakshmi-Prasad Potluri, Cameron Stuver Moody, Jumei Zeng, Sladjana Prisic, Joseph N. Paulson, Jan Muntel, Ashoka V. R. Madduri, Jorge Velarde, Jacob A. Mayfield, Christopher Locher, Tiansheng Wang, John Quackenbush, Kyu Y. Rhee, D. Branch Moody, Hanno Steen, Robert N. Husson

Association of Somatic GNAQ Mutation With Capillary Malformations in a Case of Choroidal Hemangioma

Colette A. Bichsel, PhD,1,2 Jeremy Goss, MD,3 Mohammed Alomari, MD,3 Sanda Alexandrescu, MD,4 Richard Robb, MD,5 Lois E. Smith, MD, PhD,5 Marcelo Hochman, MD,6 Arin Greene, MD, MMSc,3 and Joyce Bischoff, PhD1,2

De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report.

Mavros CF, Brownstein CA, Thyagrajan R, Genetti CA, Tembulkar S, Graber K, Murphy Q, Cabral K, VanNoy GE, Bainbridge M, Shi J, Agrawal PB, Beggs AH, D'Angelo E, Gonzalez-Heydrich J.

BMC Med Genet. 2018 Nov 13;19(1):197. doi: 10.1186/s12881-018-0711-9.

PMID: 30424743

Methods for differentiation 

United States Patent Application 20190106677

Kind Code:

A1

Inventors: LI, Victor Chun (Boston, MA, US), Kirschner, Marc W. (Newton, MA, US)

DNA Gene Expression to Study Immunologic Mechanisms for the Long-Term Cure of Malaria in Babies and Children in South-Western Nigeria

Jerry T. Thornthwaite, Akanni E. Olufemi, Ayankunle A. Ademola, O. A. T. Alli