Search Results - "Grinzaid, Karen A."

Screening for Tay‐Sachs disease carriers by full‐exon sequencing with novel variant interpretation outperforms enzyme testing in a pan‐ethnic cohort by Cecchi, Alana C., Vengoechea, Elizabeth S., Kaseniit, Kristjan E., Hardy, Melanie W., Kiger, Laura A., Mehta, Nikita, Haque, Imran S., Moyer, Krista, Page, Patricia Z., Muzzey, Dale, Grinzaid, Karen A.

“…Background Pathogenic variants in HEXA that impair β‐hexosaminidase A (Hex A) enzyme activity cause Tay‐Sachs Disease (TSD), a severe autosomal‐recessive…”
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Evaluating the experiences of individuals with personal health risks identified through expanded carrier screening by Brown, Emily M., Grinzaid, Karen A., Ali, Nadia, Mehta, Nikita, Hardy, Melanie W.

“…Expanded carrier screening (ECS) is used to identify individuals and couples at risk for having children with recessive or X‐linked genetic conditions;…”
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Attitudes and interest in incorporating BRCA1/2 cancer susceptibility testing into reproductive carrier screening for Ashkenazi Jewish men and women by Hardy, Melanie W., Peshkin, Beth N., Rose, Esther, Ladd, Mary Kathleen, Binion, Savannah, Tynan, Mara, McBride, Colleen M., Grinzaid, Karen A., Schwartz, Marc D.

“…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…”
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Patients' reactions and follow‐up testing decisions related to Tay‐Sachs (HEXA) variants of uncertain significance results by Yip, Tiffany, Grinzaid, Karen A., Bellcross, Cecelia, Moore, Reneé H., Page, Patricia Z., Hardy, Melanie W.

“…JScreen is a national public health initiative based out of Emory University that provides reproductive carrier screening through an online portal and…”
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Impact of education and the facilitation of carrier screening in a population at increased risk for lysosomal diseases by Grinzaid, Karen A.

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Cessation of enzyme replacement therapy in Gaucher disease by Grinzaid, Karen A, Geller, Eleanor, Hanna, Soheil L, Elsas, 2nd, Louis J

“…Enzyme replacement therapy (ERT) is a promising therapeutic intervention for lysosomal storage diseases. Posttranslationally engineered human…”
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Gaucher disease: In vivo evidence for allele dose leading to neuronopathic and nonneuronopathic phenotypes by Zhao, Huiquan, Bailey, Laurie A., Elsas II, Louis J., Grinzaid, Karen A., Grabowski, Gregory A.

“…Gaucher disease, a common lysosomal storage disorder, is associated with mutations at the acid β‐glucosidase (GCase) locus. Two affected individuals are…”
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Reclassification of common variants of unknown significance in the hexosaminidase A gene: Implications for Tay-Sachs disease carrier screening by Smith, Elizabeth D., Grinzaid, Karen A., Hardy, Melanie, Cecchi, Alana, Kiger, Laura, Muzzey, Dale, Kaseniit, Eerik, Moyer, Krista

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Cessation of enzyme replacement therapy in Gaucher disease by Grinzaid, Karen A., Geller, Eleanor, Hanna, Soheil L., Elsas, Louis J.

“…Purpose: Enzyme replacement therapy (ERT) is a promising therapeutic intervention for lysosomal storage diseases. Posttranslationally engineered human…”
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