Alexandra M Dumitrescu (Alexandra Dumitrescu, Alexandra M Dumitresu)

Publication Activity (10 Years)

Years Active: 2021-2024
Publications (10 Years): 15

Top Topics

Intellectual Disability

Replacement Therapy

Long Noncoding Rna

Duchenne Muscular Dystrophy

Top Venues

Thyroid : official journal of the American Thyroid Association

Nature genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Helmut Grasberger, Alexandra M Dumitrescu, Xiao-Hui Liao, Elliott G Swanson, Roy E Weiss, Panudda Srichomkwun, Theodora Pappa, Junfeng Chen, Takashi Yoshimura, Phillip Hoffmann, Monica Malheiros França, Rebecca Tagett, Kazumichi Onigata, Sabine Costagliola, Jane Ranchalis, Mitchell R Vollger, Andrew B Stergachis, Jessica Xiao-Ling Chong, Michael J Bamshad, Guillaume Smits, Gilbert Vassart, Samuel Refetoff
STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179. Nature genetics 56 (5) (2024)
Helmut Grasberger, Alexandra M Dumitrescu, Xiao-Hui Liao, Elliott G Swanson, Roy E Weiss, Panudda Srichomkwun, Theodora Pappa, Junfeng Chen, Takashi Yoshimura, Phillip Hoffmann, Monica Malheiros França, Rebecca Tagett, Kazumichi Onigata, Sabine Costagliola, Jane Ranchalis, Mitchell R Vollger, Andrew B Stergachis, Jessica Xiao-Ling Chong, Michael J Bamshad, Guillaume Smits, Gilbert Vassart, Samuel Refetoff
STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179. Nature genetics 56 (5) (2024)
Helmut Grasberger, Alexandra M Dumitrescu, Xiao-Hui Liao, Elliott G Swanson, Roy E Weiss, Panudda Srichomkwun, Theodora Pappa, Junfeng Chen, Takashi Yoshimura, Phillip Hoffmann, Monica Malheiros França, Rebecca Tagett, Kazumichi Onigata, Sabine Costagliola, Jane Ranchalis, Mitchell R Vollger, Andrew B Stergachis, Jessica Xiao-Ling Chong, Michael J Bamshad, Guillaume Smits, Gilbert Vassart, Samuel Refetoff
STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179. Nature genetics 56 (5) (2024)
Helmut Grasberger, Alexandra M Dumitrescu, Xiao-Hui Liao, Elliott G Swanson, Roy E Weiss, Panudda Srichomkwun, Theodora Pappa, Junfeng Chen, Takashi Yoshimura, Phillip Hoffmann, Monica Malheiros França, Rebecca Tagett, Kazumichi Onigata, Sabine Costagliola, Jane Ranchalis, Mitchell R Vollger, Andrew B Stergachis, Jessica Xiao-Ling Chong, Michael J Bamshad, Guillaume Smits, Gilbert Vassart, Samuel Refetoff
STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179. Nature genetics (2024)
Helmut Grasberger, Alexandra M Dumitrescu, Xiao-Hui Liao, Elliott G Swanson, Roy E Weiss, Panudda Srichomkwun, Theodora Pappa, Junfeng Chen, Takashi Yoshimura, Phillip Hoffmann, Monica Malheiros França, Rebecca Tagett, Kazumichi Onigata, Sabine Costagliola, Jane Ranchalis, Mitchell R Vollger, Andrew B Stergachis, Jessica Xiao-Ling Chong, Michael J Bamshad, Guillaume Smits, Gilbert Vassart, Samuel Refetoff
STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179. Nature genetics 56 (5) (2024)
Reham Shareef, Aryel Furman, Yui Watanabe, Ryan Bruellman, Mohammed A Abdullah, Alexandra M Dumitrescu, Samuel Refetoff, Andrea Bertolini, Marco Borsò, Alessandro Saba, Riccardo Zucchi, Roy E Weiss
Congenital Hypothyroidism in Two Sudanese Families Harboring a Novel Iodotyrosine Deiodinase Mutation (IYD R279C). Thyroid : official journal of the American Thyroid Association 33 (2) (2023)
Reham Shareef, Aryel Furman, Yui Watanabe, Ryan Bruellman, Mohammed A Abdullah, Alexandra M Dumitrescu, Samuel Refetoff, Andrea Bertolini, Marco Borsò, Alessandro Saba, Riccardo Zucchi, Roy E Weiss
Congenital Hypothyroidism in Two Sudanese Families Harboring a Novel Iodotyrosine Deiodinase Mutation (IYD R279C). Thyroid : official journal of the American Thyroid Association 33 (2) (2023)
Reham Shareef, Aryel Furman, Yui Watanabe, Ryan Bruellman, Mohammed A Abdullah, Alexandra M Dumitrescu, Samuel Refetoff, Andrea Bertolini, Marco Borsò, Alessandro Saba, Riccardo Zucchi, Roy E Weiss
Congenital Hypothyroidism in Two Sudanese Families Harboring a Novel Iodotyrosine Deiodinase Mutation (IYD R279C). Thyroid : official journal of the American Thyroid Association 33 (2) (2023)
Reham Shareef, Aryel Furman, Yui Watanabe, Ryan Bruellman, Mohammed A Abdullah, Alexandra M Dumitrescu, Samuel Refetoff, Andrea Bertolini, Marco Borsò, Alessandro Saba, Riccardo Zucchi, Roy E Weiss
Congenital Hypothyroidism in Two Sudanese Families Harboring a Novel Iodotyrosine Deiodinase Mutation (IYD R279C). Thyroid : official journal of the American Thyroid Association 33 (2) (2023)
Reham Shareef, Aryel Furman, Yui Watanabe, Ryan Bruellman, Mohammed A Abdullah, Alexandra M Dumitrescu, Samuel Refetoff, Andrea Bertolini, Marco Borsò, Alessandro Saba, Riccardo Zucchi, Roy E Weiss
Congenital Hypothyroidism in Two Sudanese Families Harboring a Novel Iodotyrosine Deiodinase Mutation (IYD R279C). Thyroid : official journal of the American Thyroid Association 33 (2) (2023)
Reham Shareef, Aryel Furman, Yui Watanabe, Ryan Bruellman, Mohammed A Abdullah, Alexandra M Dumitrescu, Samuel Refetoff, Andrea Bertolini, Marco Borsò, Alessandro Saba, Riccardo Zucchi, Roy E Weiss
Congenital Hypothyroidism in Two Sudanese Families Harboring a Novel Iodotyrosine Deiodinase Mutation (IYD R279C). Thyroid : official journal of the American Thyroid Association 33 (2) (2023)
Xiao-Hui Liao, Pablo Avalos, Oksana Shelest, Raz Ofan, Michael Shilo, Catherine Bresee, Shibi Likhite, Jean-Philippe Vit, Heike Heuer, Brian Kaspar, Kathrin Meyer, Alexandra M Dumitrescu, Samuel Refetoff, Clive N Svendsen, Gad D Vatine
AAV9-MCT8 Delivery at Juvenile Stage Ameliorates Neurological and Behavioral Deficits in a Mouse Model of MCT8-Deficiency. Thyroid : official journal of the American Thyroid Association 32 (7) (2022)
Monica Malheiros França, Lucy Reeve, Alexandra M Dumitrescu, Martin de Bock, Samuel Refetoff
A Novel Pathogenic Variant in PAX8 Leads to Familial Congenital Hypothyroidism. Thyroid : official journal of the American Thyroid Association 32 (8) (2022)
Federico Salas-Lucia, Monica M França, James A Amrhein, J Elizabeth Weir, Alexandra M Dumitrescu, Samuel Refetoff
Severe Resistance to Thyroid Hormone Beta in a Patient with Athyreosis. Thyroid : official journal of the American Thyroid Association 32 (3) (2022)
Aryel Furman, Zeina Hannoush, Francisco Barrera Echegoyen, Alexandra M Dumitrescu, Samuel Refetoff, Roy E Weiss
Novel DIO1 Gene Mutation Acting as Phenotype Modifier for Novel Compound Heterozygous TPO Gene Mutations Causing Congenital Hypothyroidism. Thyroid : official journal of the American Thyroid Association 31 (10) (2021)