Parents
Sign in to add mentor| Chris A. Walsh | post-doc | 2007-2013 | Boston Children's Hospital & Harvard Medical School (Neurotree) |
Children
Sign in to add trainee| Boxun Zhao | post-doc | 2018- | Harvard Medical School and Broad Institute |
BETA: Related publications
See more...
Publications
|
You can help our author matching system! If you notice any publications incorrectly attributed to this author, please sign in and mark matches as correct or incorrect. |
| D'Gama AM, Hills S, Douglas J, et al. (2024) Implementation of rapid genomic sequencing in safety-net neonatal intensive care units: protocol for the VIrtual GenOme CenteR (VIGOR) proof-of-concept study. Bmj Open. 14: e080529 |
| Lai J, Demirbas D, Kim J, et al. (2023) ATM-deficiency-induced microglial activation promotes neurodegeneration in ataxia-telangiectasia. Cell Reports. 43: 113622 |
| Zhao B, Nguyen MA, Woo S, et al. (2023) Contribution and therapeutic implications of retroelement insertions in ataxia telangiectasia. American Journal of Human Genetics |
| Kim J, Woo S, de Gusmao CM, et al. (2023) A framework for individualized splice-switching oligonucleotide therapy. Nature |
| Vockley J, Aartsma-Rus A, Cohen JL, et al. (2022) Whole-genome sequencing holds the key to the success of gene-targeted therapies. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics |
| D'Gama AM, Del Rosario MC, Bresnahan MA, et al. (2022) Integrating rapid exome sequencing into NICU clinical care after a pilot research study. Npj Genomic Medicine. 7: 51 |
| Lai A, Soucy A, El Achkar CM, et al. (2022) The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2. Genetics in Medicine : Official Journal of the American College of Medical Genetics |
| Williams LA, Gerber DJ, Elder A, et al. (2022) Developing antisense oligonucleotides for a mutation-induced, ultra-rare neurological disorder using patient-derived cellular models. Molecular Therapy. Nucleic Acids. 29: 189-203 |
| Yabumoto M, Kianmahd J, Singh M, et al. (2021) Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms. Molecular Genetics & Genomic Medicine. e1809 |
| Harris HK, Nakayama T, Lai J, et al. (2021) Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior. Genetics in Medicine : Official Journal of the American College of Medical Genetics |