Randomized prospective evaluation of genome sequencing versus standard-of-care as a first molecular diagnostic test
Brockman, Deanna G, Austin-Tse, Christina A, Pelletier, Renée C, Harley, Caroline, Patterson, Candace, Head, Holly, Leonard, Courtney Elizabeth, O'Brien, Kimberly, Mahanta, Lisa M, Lebo, Matthew S, Lu, Christine Y, Natarajan, Pradeep, Khera, Amit V, Aragam, Krishna G, Kathiresan, Sekar, Rehm, Heidi L, Udler, Miriam S
Published in Genetics in medicine (01.09.2021)
Published in Genetics in medicine (01.09.2021)
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Challenges and Errors in Genetic Testing: The Fifth Case Series
Farmer, Meagan B, Bonadies, Danielle C, Pederson, Holly J, Mraz, Kathryn A, Whatley, Julie W, Darnes, Deanna R, Denton, Jessica Johnson, De Rosa, Diana, Heatherly, Alexis, Kenney, Jessica, Lane, Kimberly, Paul, Deborah, Pelletier, Renée C, Shannon, Kristen, Williams, Danielle, Matloff, Ellen T
Published in The cancer journal (Sudbury, Mass.) (01.11.2021)
Published in The cancer journal (Sudbury, Mass.) (01.11.2021)
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SLC6A1 Mutation and Ketogenic Diet in epilepsy with myoclonic-atonic seizures
Palmer, Samantha, Towne, Meghan C, Pearl, Phillip L, Pelletier, Renee C, Genetti, Casie A, Shi, Jiahai, Beggs, Alan H, Agrawal, Pankaj B, Brownstein, Catherine A
Published in Pediatric neurology (01.11.2016)
Published in Pediatric neurology (01.11.2016)
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Expanding the phenotypic spectrum associated with OPHN1 variants
Schwartz, Talia S., Wojcik, Monica H., Pelletier, Renee C., Edward, Heather L., Picker, Jonathan D., Holm, Ingrid A., Towne, Meghan C., Beggs, Alan H., Agrawal, Pankaj B.
Published in European journal of medical genetics (01.02.2019)
Published in European journal of medical genetics (01.02.2019)
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Clinical Implementation of Combined Monogenic and Polygenic Risk Disclosure for Coronary Artery Disease
Maamari, Dimitri J, Brockman, Deanna G, Aragam, Krishna, Pelletier, Renée C, Folkerts, Emma, Neben, Cynthia L, Okumura, Sydney, Hull, Leland E, Philippakis, Anthony A, Natarajan, Pradeep, Ellinor, Patrick T, Ng, Kenney, Zhou, Alicia Y, Khera, Amit V, Fahed, Akl C
Published in JACC. Advances (Online) (01.08.2022)
Published in JACC. Advances (Online) (01.08.2022)
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Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome With Disease Risk in Adults According to Family History
Patel, Aniruddh P, Wang, Minxian, Fahed, Akl C, Mason-Suares, Heather, Brockman, Deanna, Pelletier, Renee, Amr, Sami, Machini, Kalotina, Hawley, Megan, Witkowski, Leora, Koch, Christopher, Philippakis, Anthony, Cassa, Christopher A, Ellinor, Patrick T, Kathiresan, Sekar, Ng, Kenney, Lebo, Matthew, Khera, Amit V
Published in JAMA network open (01.04.2020)
Published in JAMA network open (01.04.2020)
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Concordance of a High Polygenic Score Among Relatives: Implications for Genetic Counseling and Cascade Screening
Reid, Nicholas J, Brockman, Deanna G, Elisabeth Leonard, Courtney, Pelletier, Renee, Khera, Amit V
Published in Circulation. Genomic and precision medicine (01.04.2021)
Published in Circulation. Genomic and precision medicine (01.04.2021)
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A pooled electronic consultation program to improve access to genetics specialists
Folkerts, Emma K., Pelletier, Renée C., Chung, Daniel C., Goldstein, Susan A., Micalizzi, Douglas S., Shannon, Kristen M., Sweetser, David A., Wong, Eugene K., Rehm, Heidi L., Hull, Leland E.
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations
Brownstein, Catherine A., Beggs, Alan H., Rodan, Lance, Shi, Jiahai, Towne, Meghan C., Pelletier, Renee, Cao, Siqi, Rosenberg, Paul A., Urion, David K., Picker, Jonathan, Tan, Wen-Hann, Agrawal, Pankaj B.
Published in Neurogenetics (01.01.2016)
Published in Neurogenetics (01.01.2016)
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