Search Results - "Becraft, Emily"

P681: Carrier screening with the ACMG 113: An early look and new insights by Souter, Vivienne, Armentti, Erin, Armer-Cabral, Madeleine, Becraft, Emily, Saucier, Jennifer, Repass, Elizabeth, Meng, Linyan, Benn, Peter, Wang, Yang

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P651: Bleeding complications in pregnant carriers of factor IX and factor XI ascertained through carrier screening by Johnson, Lisa, Keilman, Sarah, Becraft, Emily, Repass, Elizabeth, Benn, Peter, Prigmore, Brittany, Wang, Yang, Maloney, Bridget, Ruiz, Kayla, Balcioglu, Melda, Souter, Vivienne

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P528: Detection of non-deletional variants in HBA1 and HBA2 genes through reproductive carrier screening and breakdown by gene, variant, and ethnicity by Becraft, Emily, Repass, Elizabeth, Villalta, Chris, Sandur, Amitha, Nguyen, Thu-Ha, Onyema, Emily, Wang, Yang, Lu, Xingwu, Arya, Priyanka, Prego, Matthew, Xu, Wenbo, Sha, Youbao

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1152 Positive Carrier Screening for Alport Syndrome: A Need for Greater Awareness by Souter, Vivienne, Johnson, Lisa, Keilman, Sarah, Becraft, Emily, Repass, Elizabeth, Prigmore, Brittany, Wang, Yang, Tabriziani, Hossein, Benn, Peter

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Reproductive Carrier Screening Results With Maternal Health Implications During Pregnancy by Souter, Vivienne, Prigmore, Brittany, Becraft, Emily, Repass, Elizabeth, Smart, Trevor, Sanapareddy, Nina, Schweitzer, Melissa, Ortiz, J Bryce, Wang, Yang, Benn, Peter

“…To identify conditions on a reproductive carrier screening panel with the potential for carrier manifestations during pregnancy and review the implications for…”
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eP414 - Using ethnicity to adjust risk and provide accurate counseling for Alpha-thalassemia by Becraft, Emily, Repass, Elizabeth, Maisenbacher, Melissa, Sha, Youbao, Liang, Li, Keen-Kim, J. Dianne

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Using ethnicity to adjust risk and provide accurate counseling for Alpha-thalassemia by Becraft, Emily, Repass, Elizabeth, Maisenbacher, Melissa, Sha, Youbao, Liang, Li, Keen-Kim, J. Dianne

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Reproductive Carrier Screening Results With Maternal Health Implications During Pregnancy by Souter, Vivienne, Prigmore, Brittany, Becraft, Emily, Repass, Elizabeth, Smart, Trevor, Sanapareddy, Nina, Schweitzer, Melissa, Ortiz, J. Bryce, Wang, Yang, Benn, Peter

“…(Abstracted from Obstet Gynecol 2023;142:1208–1216 Mutations in a single gene (monogenetic) are significant contributors to neonatal and childhood morbidity…”
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eP463: Inconclusive Duchenne Muscular Dystrophy (DMD) carrier screening and atypical SNP-based NIPS sex chromosomes analysis suggest maternal sex chromosome abnormality by Walker, Julianna, Repass, Elizabeth, Becraft, Emily, Howard, Katherine, Lemoine, Jennifer, Goldring, Georgina, DiNonno, Wendy, Arya, Priyanka, Sha, Youbao, Xu, Wenbo, Liang, Li

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Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures by Petrovski, Slavé, Küry, Sébastien, Myers, Candace T., Anyane-Yeboa, Kwame, Cogné, Benjamin, Bialer, Martin, Xia, Fan, Hemati, Parisa, Riviello, James, Mehaffey, Michele, Besnard, Thomas, Becraft, Emily, Wadley, Alexandrea, Politi, Anya Revah, Colombo, Sophie, Zhu, Xiaolin, Ren, Zhong, Andrews, Ian, Dudding-Byth, Tracy, Schneider, Amy L., Wallace, Geoffrey, Rosen, Aaron B.I., Schelley, Susan, Enns, Gregory M., Corre, Pierre, Dalton, Joline, Mercier, Sandra, Latypova, Xénia, Schmitt, Sébastien, Guzman, Edwin, Moore, Christine, Bier, Louise, Heinzen, Erin L., Karachunski, Peter, Shur, Natasha, Grebe, Theresa, Basinger, Alice, Nguyen, Joanne M., Bézieau, Stéphane, Wierenga, Klaas, Bernstein, Jonathan A., Scheffer, Ingrid E., Rosenfeld, Jill A., Mefford, Heather C., Isidor, Bertrand, Goldstein, David B.

“…Whole-exome sequencing of 13 individuals with developmental delay commonly accompanied by abnormal muscle tone and seizures identified de novo missense…”
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Reproductive Carrier Screening: Identifying Families at Risk for Familial Hypercholesterolemia in the United States by Souter, Vivienne, Becraft, Emily, Brummitt, Samantha, Gall, Bryan J, Prigmore, Brittany, Wang, Yang, Benn, Peter

“…Familial hypercholesterolemia is a treatable genetic condition but remains underdiagnosed. We reviewed the frequency of pathogenic or likely pathogenic (P/LP)…”
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