Both cis and trans-acting genetic factors drive somatic instability in female carriers of the FMR1 premutation
Hwang, Ye Hyun, Hayward, Bruce Eliot, Zafarullah, Marwa, Kumar, Jay, Durbin Johnson, Blythe, Holmans, Peter, Usdin, Karen, Tassone, Flora
Published in Scientific reports (21.06.2022)
Published in Scientific reports (21.06.2022)
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Clinical implications of somatic allele expansion in female FMR1 premutation carriers
Aishworiya, Ramkumar, Hwang, Ye Hyun, Santos, Ellery, Hayward, Bruce, Usdin, Karen, Durbin-Johnson, Blythe, Hagerman, Randi, Tassone, Flora
Published in Scientific reports (29.04.2023)
Published in Scientific reports (29.04.2023)
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Journal Article
Apolipoproteine and KLOTHO Gene Variants Do Not Affect the Penetrance of Fragile X-Associated Tremor/Ataxia Syndrome
Winarni, Tri Indah, Hwang, Ye Hyun, Rivera, Susan M, Hessl, David, Durbin-Johnson, Blythe P, Utari, Agustini, Hagerman, Randi, Tassone, Flora
Published in International journal of molecular sciences (01.08.2024)
Published in International journal of molecular sciences (01.08.2024)
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Journal Article
Activation Ratio Correlates with IQ in Female Carriers of the FMR1 Premutation
Protic, Dragana, Polli, Roberta, Hwang, Ye Hyun, Mendoza, Guadalupe, Hagerman, Randi, Durbin-Johnson, Blythe, Hayward, Bruce E, Usdin, Karen, Murgia, Alessandra, Tassone, Flora
Published in Cells (Basel, Switzerland) (24.06.2023)
Published in Cells (Basel, Switzerland) (24.06.2023)
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Brain Metabolomics in Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)
Salcedo-Arellano, Maria Jimena, Johnson, Michael D, McLennan, Yingratana A, Hwang, Ye Hyun, Juarez, Pablo, McBride, Erin Lucille, Pantoja, Adriana P, Durbin-Johnson, Blythe, Tassone, Flora, Hagerman, Randi J, Martínez-Cerdeño, Verónica
Published in Cells (Basel, Switzerland) (23.08.2023)
Published in Cells (Basel, Switzerland) (23.08.2023)
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Open-Label Sulforaphane Trial in FMR1 Premutation Carriers with Fragile-X-Associated Tremor and Ataxia Syndrome (FXTAS)
Santos, Ellery, Clark, Courtney, Biag, Hazel Maridith B, Tang, Si Jie, Kim, Kyoungmi, Ponzini, Matthew D, Schneider, Andrea, Giulivi, Cecilia, Montanaro, Federica Alice Maria, Gipe, Jesse Tran-Emilia, Dayton, Jacquelyn, Randol, Jamie L, Yao, Pamela J, Manolopoulos, Apostolos, Kapogiannis, Dimitrios, Hwang, Ye Hyun, Hagerman, Paul, Hagerman, Randi, Tassone, Flora
Published in Cells (Basel, Switzerland) (01.12.2023)
Published in Cells (Basel, Switzerland) (01.12.2023)
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Repeat Instability in the Fragile X-Related Disorders: Lessons from a Mouse Model
Zhao, Xiaonan, Gazy, Inbal, Hayward, Bruce, Pintado, Elizabeth, Hwang, Ye Hyun, Tassone, Flora, Usdin, Karen
Published in Brain sciences (01.03.2019)
Published in Brain sciences (01.03.2019)
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Population-based FMR1 carrier screening among reproductive women
Ain, Quratul, Hwang, Ye Hyun, Yeung, Daryl, Panpaprai, Pacharee, Iamurairat, Wiwat, Chutimongkonkul, Wiboon, Trachoo, Objoon, Tassone, Flora, Jiraanont, Poonnada
Published in Journal of assisted reproduction and genetics (25.09.2024)
Published in Journal of assisted reproduction and genetics (25.09.2024)
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Journal Article
Activation Ratio Correlates with IQ in Female Carriers of the IFMR1/I Premutation
Protic, Dragana, Polli, Roberta, Hwang, Ye Hyun, Mendoza, Guadalupe, Hagerman, Randi, Durbin-Johnson, Blythe, Hayward, Bruce E, Usdin, Karen, Murgia, Alessandra, Tassone, Flora
Published in Cells (Basel, Switzerland) (01.06.2023)
Published in Cells (Basel, Switzerland) (01.06.2023)
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