Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome von Poll, Sarah R, Martin, Renan, Wohler, Elizabeth, Partan, Elizabeth S, Walek, Elizabeth, Salman, Shaima, Groepper, Daniel, Kratz, Lisa, Cernach, Mirlene, Jesus-Garcia, Reynaldo, Haldeman-Englert, Chad, Choi, Yoon Jae, Morris, Carol D, Cohen, Bernard, Hoover-Fong, Julie, Valle, David, Semenza, Gregg L, Sobreira, Nara L M

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Global Expansion of Jeffrey’s Insights: Jeffrey Modell Foundation’s Genetic Sequencing Program for Primary Immunodeficiency von Quinn, Jessica, Modell, Vicki, Johnson, Britt, Poll, Sarah, Aradhya, Swaroop, Orange, Jordan S., Modell, Fred

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Germline multigene panel testing in acute and chronic pancreatitis von Ramsey, Mitchell L, Heald, Brandie, Gokun, Yevgeniya, Baker, Josie, Groce, J Royce, Han, Samuel, Hart, Phil A, Krishna, Somashekar G, Lara, Luis F, Lee, Peter J, Papachristou, Georgios I, Pearlman, Rachel, Poll, Sarah, Roberts, Maegan E, Stanich, Peter P

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P757: Clinical utility of the 2021 ACMG gene tiers in expanded carrier screening von Neitzel, Dana, Poll, Sarah, Aguilar, Sienna, Faulkner, Nicole, Aradhya, Swaroop

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Clinical Variant Reclassification in Hereditary Disease Genetic Testing von Kobayashi, Yuya, Chen, Elaine, Facio, Flavia M, Metz, Hillery, Poll, Sarah R, Swartzlander, Dan, Johnson, Britt, Aradhya, Swaroop

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THE AMERICAN COLLEGE OF MEDICAL GENETICS AND GENOMICS (ACMG) TIERED APPROACH TO CARRIER SCREENING: EXPERIENCE WITHIN A DIVERSE PATIENT POPULATION von Neitzel, Dana, Poll, Sarah, Faulkner, Nicole, Aradhya, Swaroop

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Measuring the patient experience in community mental health services for older people: A study of the Net Promoter Score using the Friends and Family Test in England von Wilberforce, Mark, Poll, Sarah, Langham, Heather, Worden, Angela, Challis, David

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X chromosome copy number variants: incidental ECS findings and the importance of clarifying reproductive risks von Wilkinson, Julia, Carrasquedo, Allie, Grams, Sarah, Strassberg, Melissa, Poll, Sarah, Slotnick, Robert

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Maternal sex chromosome aneuploidy identified through noninvasive prenatal screening: clinical profile and patient experience von Roberts, Aaron W., Maisenbacher, Melissa, Parmar, Sheetal, Wilkinson, Julia, Poll, Sarah, Faulkner, Nicole, Prakash, Siddharth

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PGT-SR OBSERVED SEGREGATION PATTERNS ALLOWS FOR TAILORED RISK ASSESSMENT von Walters-Sen, Lauren, Neitzel, Dana, Wilkinson, Julia, Poll, Sarah, Faulkner, Nicole, Aradhya, Swaroop

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Universal Germline-Genetic Testing for Breast Cancer: Implementation in a Rural Practice and Impact on Shared Decision-Making von Shelton, Charles, Ruiz, Antonio, Shelton, Lauren, Montgomery, Hannah, Freas, Karen, Ellsworth, Rachel E., Poll, Sarah, Pineda-Alvarez, Daniel, Heald, Brandie, Esplin, Edward D., Nielsen, Sarah M.

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ASO Visual Abstract: Universal Germline Genetic Testing for Breast Cancer: Implementation in a Rural Practice and Impact on Shared Decision Making von Shelton, Charles, Ruiz, Antonio, Shelton, Lauren, Montgomery, Hannah, Freas, Karen, Ellsworth, Rachel E., Poll, Sarah, Pineda-Alvarez, Daniel, Heald, Brandie, Esplin, Edward D., Nielsen, Sarah M.

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CLINICAL UTILITY OF HUMAN REVIEW: EXPERIENCE WITH PREVIOUSLY UNKNOWN REARRANGEMENT CARRIERS USING FAST-SEQS, A NEXT-GENERATION SEQUENCING PGT ASSAY von Walters-Sen, Lauren, Neitzel, Dana, Wilkinson, Julia, Poll, Sarah, Faulkner, Nicole, Aradhya, Swaroop

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The ‘Goldilocks’ panel: determining the optimal number of genes to include for equitable, pan-ancestry carrier screening von Gruzin, Mia J., Hobbs, Matthew, Poll, Sarah, Knezovich, Jaysen, Aradhya, Swaroop, Burnett, Leslie

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eP472: Deriving risk estimates for balanced rearrangement carriers utilizing PGT-SR data von Walters-Sen, Lauren, Neitzel, Dana, Wilkinson, Julia, Poll, Sarah, Faulkner, Nicole, Aradhya, Swaroop

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eP285: Hidden threats: Identifying genetic risks for cardiomyopathy complications in healthy pregnant women von Wilkinson, Julia, Morales, Ana, Poll, Sarah, Vatta, Matteo, Slotnick, Robert, Aradhya, Swaroop

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Measuring the patient experience in community mental health services for older people: A study of the Net Promoter Score using the Friends and Family Test in England von Wilberforce, Mark, Poll, Sarah, Langham, Heather, Worden, Angela, Challis, David

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573 GERMLINE MULTIGENE PANEL TESTING IN ACUTE AND CHRONIC PANCREATITIS von Ramsey, Mitchell L., Heald, Brandie, Gokun, Yevgeniya, Baker, Josie, Groce, Jeffery R., Han, Samuel, Hart, Phil A., Krishna, Somashekar G., Lara, Luis F., Lee, Peter, Papachristou, Georgios, Pearlman, Rachel, Poll, Sarah, Roberts, Maegan E., Stanich, Peter P.

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Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date von MacCarrick, Gretchen, Aradhya, Swaroop, Bailey, Mitch, Chu, Dorna, Hunt, Abigail, Izzo, Emanuela, Krakow, Deborah, Mackenzie, William, Poll, Sarah, Raggio, Cathleen, Shediac, Renée, White, Klane K., McLaughlin, Heather M., Seratti, Guillermo

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THE NATURE OF SEX CHROMOSOME ANEUPLOIDIES IN HUMAN BLASTOCYSTS von Korkidakis, Ann, Groff, Abigail, Shah, Jaimin S., Sabbagh, Riwa, Copperman, Alan B., Estevez, Samantha Lauren, Foulk, Russell A., Lee, Joseph A., Neitzel, Dana, Poll, Sarah, Walters-Sen, Lauren, Penzias, Alan S., Sakkas, Denny

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