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of 10
pro vyhledávání: '"Melanie W Hardy"'
Autor:
Alana C. Cecchi, Elizabeth S. Vengoechea, Kristjan E. Kaseniit, Melanie W. Hardy, Laura A. Kiger, Nikita Mehta, Imran S. Haque, Krista Moyer, Patricia Z. Page, Dale Muzzey, Karen A. Grinzaid
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 8, Pp n/a-n/a (2019)
Abstract Background Pathogenic variants in HEXA that impair β‐hexosaminidase A (Hex A) enzyme activity cause Tay‐Sachs Disease (TSD), a severe autosomal‐recessive neurodegenerative disorder. Hex A enzyme analysis demonstrates near‐zero activ
Externí odkaz:
https://doaj.org/article/f54cb151ac62460c8e3c972f6df6730b
Publikováno v:
Journal of Genetic Counseling. 31:598-607
Expanded carrier screening (ECS) is used to identify individuals and couples at risk for having children with recessive or X-linked genetic conditions; however, personal health risks (PHR) can also be identified through this testing. There is limited
Publikováno v:
Journal of Genetic Counseling
Genetic counseling services changed due to the COVID‐19 pandemic. Many genetic counselors (GCs) moved from in‐person to telehealth services. Others were redeployed by choice or necessity, using their expertise to provide COVID‐19 care and educa
Autor:
Melanie W. Hardy, Beth N. Peshkin, Esther Rose, Mary Kathleen Ladd, Savannah Binion, Mara Tynan, Colleen M. McBride, Karen A. Grinzaid, Marc D. Schwartz
Publikováno v:
Journal of community genetics. 13(3)
Pathogenic variants in the BRCA1 and BRCA2 (BRCA1/2) genes are associated with elevated cancer risks in men and women. Due to a founder effect, Ashkenazi Jewish individuals are at higher risk for carrying three specific BRCA1/2 pathogenic variants. T
Autor:
Cara Cacioppo, Jennifer Malinowski, Noelle R. Danylchuk, Rachel Nusbaum, Lola Cook, Kate P Shane-Carson, Melanie W Hardy, Susan C. Steelman
Publikováno v:
Journal of genetic counselingREFERENCES. 30(5)
Telehealth options, such as telephone counseling or videoconferencing, for service delivery in genetic counseling are becoming more widely accepted. However, until now, there has not been a systematic review of the literature focused specifically on
Autor:
Melanie W Hardy, Reneé H. Moore, Patricia Z. Page, Karen A. Grinzaid, Tiffany Yip, Cecelia Bellcross
Publikováno v:
Journal of Genetic Counseling. 28:738-749
JScreen is a national public health initiative based out of Emory University that provides reproductive carrier screening through an online portal and follow-up genetic counseling services. In 2014, JScreen began reporting to patients variants of unc
Autor:
Melanie W Hardy, Karen A. Grinzaid
Publikováno v:
Current Genetic Medicine Reports. 5:84-90
The purposes of the present study are to evaluate telemedicine via analysis of the JScreen program and describe the benefits and challenges of telemedicine for genetic services. There are a number of considerations in establishing and using telemedic
Autor:
Kristjan Eerik Kaseniit, Patricia Z. Page, Laura A. Kiger, Alana C. Cecchi, Dale Muzzey, Krista Moyer, Elizabeth S. Vengoechea, Imran S. Haque, Nikita Mehta, Karen A. Grinzaid, Melanie W Hardy
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 8, Pp n/a-n/a (2019)
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine
Background Pathogenic variants in HEXA that impair β‐hexosaminidase A (Hex A) enzyme activity cause Tay‐Sachs Disease (TSD), a severe autosomal‐recessive neurodegenerative disorder. Hex A enzyme analysis demonstrates near‐zero activity in pa
Publikováno v:
Public health genomics. 21(1-2)
Background/Aims: Access to preconception carrier screening, which provides at-risk couples with more reproductive options, is critically important. To address this need in the Jewish community, genetic counselors at Emory University launched JScreen
Autor:
Krista Moyer, Karen A. Grinzaid, Laura A. Kiger, Dale Muzzey, Eerik Kaseniit, Melanie W Hardy, Elizabeth D. Smith, Alana C. Cecchi
Publikováno v:
Molecular Genetics and Metabolism. 123:S133