Chelsea Lowther, PhD
img_Chelsea Lowther
ASSISTANT PROFESSOR | Genetics and Genomic Sciences
Research Topics
Computational Biology, Genomics, Human Genetics and Genetic Disorders, Personalized Medicine, Translational Research
Multi-Disciplinary Training Area
Artificial Intelligence and Emerging Technologies in Medicine [AIET], Genetics and Genomic Sciences [GGS]

BSc, University of Prince Edward Island

PhD, University of Toronto

Postdoc, Massachusetts General Hospital/Harvard Medical School/Broad Institute

2022

K99/R00 Transition to Independence Award

NICHD

2021

Fund for Medical Discovery Fundamental Research Fellowship Award

Massachusetts General Hospital Executive Committee on Research

2020

Charles J. Epstein Trainee Award for Excellence in Human Genetics Research – Finalist

American Society of Human Genetics

2020

Charles J. Epstein Trainee Award for Excellence in Human Genetics Research – Winner

American Society of Human Genetics

2018

Postdoctoral Fellowship

Canadian Institutes of Health Research

2015

Frederick Banting and Charles Best Canada Graduate Scholarship

Canadian Institutes of Health Research

2015

McLaughlin Centre Training Award

University of Toronto

2012

Convocation Award

Psychological Association of Prince Edward Island

2011

Robert Haines Memorial Science Award of Merit

University of Prince Edward Island

Publications

Selected Publications

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes. Samuel F. Berkovic, Benjamin M. Neale, Gábor Zsurka, Milena Zizovic, Fritz Zimprich, Federico Zara, Felix Zahnert, Sara Zagaglia, Emrah Yücesan, Robert Yolken, Uluc Yis, Zuhal Yapıcı, Kazuhiro Yamakawa, David Wu, Randi von Wrede, Isaac Wong, Stefan Wolking, Markus Wolff, Steven M. Wolf, Samuel Wiebe, Peter Widdess-Walsh, Sarah Weckhuysen, Yvonne G. Weber, Nick Watts, Ryan G. Wagner, Sarah von Spiczak, Sophie von Brauchitsch, Markéta Vlčková, Annalisa Vetro, Maria Stella Vari, Andreas van Baalen, Luc Valton, Priya Vaidiswaran, Algirdas Utkus, Sibel Uğur-İşeri, Dilsad Turkdogan, Birute Tumiene, Meng Han Tsai, Pınar Topaloglu, Marian Todaro, Paolo Tinuper, Nicholas John Timpson, Oskari Timonen, George A. Tanteles, Randip S. Taneja, Michael E. Talkowski, Hillary R. Raynes, Lara Marcuse, Chelsea Lowther, Madeline C. Fields. Nature Neuroscience

Genetic diagnostic outcomes from a 10-year research programme in autism in Aotearoa New Zealand. Suzanne M. Musgrave, Juliet Taylor, Whitney Whitford, Alexandra Garton, Jessie Poquérusse, Victoria Hawkins, Waiora Port, Kriebashne S. Moodley, Ruth Monk, Sarah D. Knowles, Caroline Walker, Christopher Samson, Lydia Velzian, Brendan Swan, Donald R. Love, Rosamund Hill, Colette Muir, Michael E. Talkowski, Chelsea Lowther, Russell G. Snell, Klaus Lehnert, Jessie C. Jacobsen. Journal of the Royal Society of New Zealand

Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies. Chelsea Lowther, Elise Valkanas, Jessica L. Giordano, Harold Z. Wang, Benjamin B. Currall, Kathryn O'Keefe, Emma Pierce-Hoffman, Nehir E. Kurtas, Christopher W. Whelan, Stephanie P. Hao, Ben Weisburd, Vahid Jalili, Jack Fu, Isaac Wong, Ryan L. Collins, Xuefang Zhao, Christina A. Austin-Tse, Emily Evangelista, Gabrielle Lemire, Vimla S. Aggarwal, Diane Lucente, Laura D. Gauthier, Charlotte Tolonen, Nareh Sahakian, Christine Stevens, Joon Yong An, Shan Dong, Mary E. Norton, Tippi C. MacKenzie, Bernie Devlin, Kelly Gilmore, Bradford C. Powell, Alicia Brandt, Francesco Vetrini, Michelle DiVito, Stephan J. Sanders, Daniel G. MacArthur, Jennelle C. Hodge, Anne O'Donnell-Luria, Heidi L. Rehm, Neeta L. Vora, Brynn Levy, Harrison Brand, Ronald J. Wapner, Michael E. Talkowski. American Journal of Human Genetics

View All Publications

Physicians and scientists on the faculty of the Icahn School of Medicine at Mount Sinai often interact with pharmaceutical, device, biotechnology companies, and other outside entities to improve patient care, develop new therapies and achieve scientific breakthroughs. In order to promote an ethical and transparent environment for conducting research, providing clinical care and teaching, Mount Sinai requires that salaried faculty inform the School of their outside financial relationships.

Dr. Lowther has not yet completed reporting of Industry relationships.

Mount Sinai's faculty policies relating to faculty collaboration with industry are posted on our website. Patients may wish to ask their physician about the activities they perform for companies.