Allison D Britt
8 Papers
Allison D Britt is an academic researcher. The author has contributed to research in topics: Medicine & Biology. The author has co-authored 2 publications.
Chat about Author
Papers
Genomic profiling informs diagnoses and treatment in vascular anomalies
Dong Li,Sarah E Sheppard,Michael E. March,Mark R. Battig,Lea F. Surrey,Abhay Srinivasan,Leticia S. Matsuoka,Lifeng Tian,Fengxiang Wang,Christoph Seiler,Jillian S. Dayneka,Alexandra J. Borst,Scott M. Paulissen,Ganesh Krishnamurthy,Bede N Nriagu,Tamjeed Sikder,Lydia S Williams,Sneha Rangu,Nora O’Connor,Alexandria Thomas,Erin Pinto,Cuiping Hou,Kenny Nguyen,Renata Pellegrino da Silva,Samar N. Chehimi,C. Kao,L. P. Biróc,Allison D Britt,Maria Queenan,Janet R. Reid,Joseph A. Napoli,D. Low,Seth Vatsky,James R. Treat,Christopher L. Smith,Anne Marie Cahill,Kristen M. Snyder,Denise M. Adams,Yoav Dori,Hakon Hakonarson +39 more
TL;DR: Genomic and cell-free DNA sequencing clarify the clinical diagnosis and inform treatment initiation in a cohort of 356 patients with vascular anomalies, and support the development of liquid biopsy-based diagnostic techniques to identify previously undescribed genotype–phenotype associations and guide medical therapy in individuals with vascular anomaly.
30
Mosaic pathogenic variants in AKT3 cause capillary malformation and undergrowth
Amber Bolli,Bede N Nriagu,Allison D Britt,Anjali D Toole,James R. Treat,Abhay Srinivasan,Sarah E Sheppard +6 more
TL;DR: In this paper , a male patient with a capillary malformation and undergrowth due to a somatic pathogenic variant in AKT3 was found to have a cutaneous vascular syndrome similar to cutis marmorata telangiectatica congenita, and no neurodevelopmental features.
5
Multiple Genomic Technologies Validate Rare Novel Variant and Direct Medical Care in Vascular Anomalies.
Luciana Daniela Garlisi Torales,Kristina M. Woodis,Allison D Britt,Lea F. Surrey,Abhay S. Srinivasan,Arupa Ganguly,Maria Limmina,Dong Li,Suzanne P. MacFarland,Denise M Adams,Sarah E. Sheppard +10 more
TL;DR: Genetic testing and deep exome sequencing validate a rare novel PTEN variant in a patient with vascular anomaly, changing diagnosis from FAVA to PTEN hamartoma and identifying a cancer predisposition syndrome, highlighting the importance of genetic diagnosis in vascular malformations.
Unusual Presentation of Coronary Artery Fistula in Capillary Malformation Arteriovenous Malformation 2 Syndrome: A Case Report.
Tyson C Echols,Allison D Britt,Seth E Vatsky,Sarah E. Sheppard,Bryan A Pukenas,Alexandra J Borst +5 more
Clinical Phenotypes of a Pediatric Cohort with GDF2-Related Hereditary Hemorrhagic Telangiectasia
Owen Oliver,Allison D Britt,Alexandra J. Borst,Elizabeth Goldmuntz,Nihal Bakeer,S. Lang,Stephanie Fuller,Arastoo Vossough,Lauren A. Beslow +8 more