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Journal of Genetic Counseling|October 1, 2017
Patients' Opinions on Genetic Counseling on the Increased Risk of Parkinson Disease among Gaucher Disease CarriersMaureen Mulhern, Louise Bier, Roy N Alcalay, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 1, 2012
Age-specific Parkinson disease risk in GBA mutation carriers: information for genetic counselingHuma Q Rana, Manisha Balwani, Louise Bier, et al.Annals of Internal Medicine|January 18, 2021
Cases in Precision Medicine: Genetic Testing to Predict Future Risk for Disease in a Healthy PatientHila Milo Rasouly, Vimla Aggarwal, Louise Bier, et al.Journal of the American Medical Informatics Association : JAMIA|July 30, 2024
Returning value to the community through the All of Us Research Program Data Sandbox modelElizabeth Cohn, Frida Esther Kleiman, Shayaa Muhammad, et al.Journal of Medical Genetics|March 7, 2024
Comparing the frequency of variants of uncertain significance (VUS) between ancestry groups in a paediatric epilepsy cohortBree E Martin, Tristan Sands, Louise Bier, et al.Journal of Genetic Counseling|November 27, 2025
Clinical trial design essentials for genetic counselorsCynthia A James, Jessica R Overbey, Louise Bier, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 14, 2016
Early manifestations of type 1 Gaucher disease in presymptomatic children diagnosed after parental carrier screeningAmy C Yang, Louise Bier, Jessica R Overbey, et al.Molecular Genetics and Metabolism Reports|April 16, 2025
Benefits of early intervention with olipudase alfa in symptomatic children with acid sphingomyelinase deficiency: A sibling case-comparison studyDrew B Sinha, William L Simpson, Andrew Ting, et al.Molecular Genetics and Metabolism|November 8, 2025
Correlation of Plasma Lyso-GL1 Levels with Clinical Phenotype and Treatment Decisions in Patients with Gaucher DiseaseChloe Cheung, Luca Fierro, Catherine McDonough, et al.Epilepsia|December 11, 2021
Genetic testing for the epilepsies: A systematic reviewBeth R Sheidley, Jennifer Malinowski, Amanda L Bergner, et al.Pageof 3