P024: Role of muscle biopsy and exome re-analysis in a mystery case of lactic acidosis

by Elizabeth Pickup, Kuntal Sen, Steven Moore, Pim Suwannarat, Christina Grant, Nicholas Ah Mew, Andrea Gropman
Published 2024-01-01

P855: Traceback testing for ovarian cancer: Implementer and participant perspectives*

by Nora Henrikson, Alanna Rahm, Paula Blasi, Tracey Leitzel, Pim Suwannarat, Adrienne Deneal, Kathleen Leppig, Aaron Scrol, Daniela Canedo, M. Cabell Jonas
Published 2024-01-01

Physician Experience with Direct-To-Consumer Genetic Testing in Kaiser Permanente

by M. Cabell Jonas, Pim Suwannarat, Andrea Burnett-Hartman, Nikki Carroll, Michelle Turner, Kristen Janes, Christine Truong, Erica Blum-Barnett, Nazneen Aziz, Elizabeth A. McGlynn
Published 2019-11-01

P068: Feasibility and initial participation in traceback cascade screening programs for ovarian cancer implemented at three integrated health systems

by Tracey Leitzel, Alanna Kulchak Rahm, Saumya Patel, Rachel Schwiter, Meredith Lewis, Yirui Hu, M. Cabell Jonas, Pim Suwannarat, Adrienne Deneal, Sundeep Basra, Jennifer Brown, Estella Khieu, Elsa Balton, Arvind Ramaprasan, Kathleen Leppig, Aaron Scrol, Nora Henrikson
Published 2023-01-01

Mouse screen reveals multiple new genes underlying mouse and human hearing loss.

by Neil J Ingham, Selina A Pearson, Valerie E Vancollie, Victoria Rook, Morag A Lewis, Jing Chen, Annalisa Buniello, Elisa Martelletti, Lorenzo Preite, Chi Chung Lam, Felix D Weiss, Zӧe Powis, Pim Suwannarat, Christopher J Lelliott, Sally J Dawson, Jacqueline K White, Karen P Steel
Published 2019-04-01

Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature

by Jessica R.C. Priestley, Lisa M. Pace, Kuntal Sen, Anjali Aggarwal, Cesar Augusto P.F. Alves, Ian M. Campbell, Sanmati R. Cuddapah, Nicole M. Engelhardt, Marina Eskandar, Paloma C. Jolín García, Andrea Gropman, Ingo Helbig, Xinying Hong, Vykuntaraju K. Gowda, Laina Lusk, Pamela Trapane, Varunvenkat M. Srinivasan, Pim Suwannarat, Rebecca D. Ganetzky
Published 2022-12-01

Feasibility and Assessment of a Cascade Traceback Screening Program (FACTS): Protocol for a Multisite Study to Implement and Assess an Ovarian Cancer Traceback Cascade Testing Prog...

by Anna DiNucci, Nora B. Henrikson, M. Cabell Jonas, Sundeep Basra, Paula Blasi, Jennifer Brown, Edward D. Esplin, Dina Hassen, Jing Hao, Yirui Hu, Tracey Klinger, Ilene Ladd, Kathleen Leppig, Meredith Lewis, Michelle Meyer, Steven Ney, Arvind Ramaprasan, Katrina Romagnoli, Zachary Salvati, Aaron Scrol, Rachel Schwiter, Leigh Sheridan, Brinda Somasundaram, Pim Suwannarat, Jennifer K. Wagner, Alanna K. Rahm
Published 2021-06-01

Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypes

by Bergithe E. Oftedal, Kristian Assing, Safa Baris, Stephanie L. Safgren, Isik S. Johansen, Marianne Antonius Jakobsen, Dusica Babovic-Vuksanovic, Katherine Agre, Eric W. Klee, Emina Majcic, Elise M.N. Ferré, Monica M. Schmitt, Tom DiMaggio, Lindsey B. Rosen, Muhammad Obaidur Rahman, Dionisios Chrysis, Aristeidis Giannakopoulos, Maria Tallon Garcia, Luis Ignacio González-Granado, Katherine Stanley, Jessica Galant-Swafford, Pim Suwannarat, Isabelle Meyts, Michail S. Lionakis, Eystein S. Husebye
Published 2023-06-01