Two successful pregnancies following fertility preservation in a patient with anaplastic astrocytoma: a case report von Peyser, Alexandra, Bristow, Sara L, Hershlag, Avner

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The Impact of Proband Indication for Genetic Testing on the Uptake of Cascade Testing Among Relatives von Schmidlen, Tara J, Bristow, Sara L, Hatchell, Kathryn E, Esplin, Edward D, Nussbaum, Robert L, Haverfield, Eden V

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SMA Identified: Clinical and Molecular Findings From a Sponsored Testing Program for Spinal Muscular Atrophy in More Than 2,000 Individuals von Bowen, B. Monica, Truty, Rebecca, Aradhya, Swaroop, Bristow, Sara L., Johnson, Britt A., Morales, Ana, Tan, Christopher A., Westbrook, M. Jody, Winder, Thomas L., Chavez, Juan C.

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Validation of Pharmacogenomic Interaction Probability (PIP) Scores in Predicting Drug-Gene, Drug-Drug-Gene, and Drug-Gene-Gene Interaction Risks in a Large Patient Population von Ashcraft, Kristine, Grande, Kendra, Bristow, Sara L, Moyer, Nicolas, Schmidlen, Tara, Moretz, Chad, Wick, Jennifer A, Blaxall, Burns C

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Is Fertility Preservation Feasible and Safe With Neoadjuvant Therapy for Breast Cancer? von Hershlag, Avner, Mullin, Christine, Bristow, Sara L

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Germline Pathogenic Variant Prevalence Among Latin American and US Hispanic Individuals Undergoing Testing for Hereditary Breast and Ovarian Cancer: A Cross-Sectional Study von Ossa Gomez, Carlos Andrés, Achatz, Maria Isabel, Hurtado, Mabel, Sanabria-Salas, María Carolina, Sullcahuaman, Yasser, Chávarri-Guerra, Yanin, Dutil, Julie, Nielsen, Sarah M, Esplin, Edward D, Michalski, Scott T, Bristow, Sara L, Hatchell, Kathryn E, Nussbaum, Robert L, Pineda-Alvarez, Daniel E, Ashton-Prolla, Patricia

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Comparing ethnicity-based and expanded carrier screening methods at a single fertility center reveals significant differences in carrier rates and carrier couple rates von Peyser, Alexandra, Singer, Tomer, Mullin, Christine, Bristow, Sara L., Gamma, Amber, Onel, Kenan, Hershlag, Avner

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Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR von Nykamp, Keith, Truty, Rebecca, Riethmaier, Darlene, Wilkinson, Julia, Bristow, Sara L., Aguilar, Sienna, Neitzel, Dana, Faulkner, Nicole, Aradhya, Swaroop

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One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation von Lincoln, Stephen E., Hambuch, Tina, Zook, Justin M., Bristow, Sara L., Hatchell, Kathryn, Truty, Rebecca, Kennemer, Michael, Shirts, Brian H., Fellowes, Andrew, Chowdhury, Shimul, Klee, Eric W., Mahamdallie, Shazia, Cleveland, Megan H., Vallone, Peter M., Ding, Yan, Seal, Sheila, DeSilva, Wasanthi, Tomson, Farol L., Huang, Catherine, Garlick, Russell K., Rahman, Nazneen, Salit, Marc, Kingsmore, Stephen F., Ferber, Matthew J., Aradhya, Swaroop, Nussbaum, Robert L.

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Molecular Diagnoses of X‐Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing Program von Rush, Eric T., Johnson, Britt, Aradhya, Swaroop, Beltran, Daniel, Bristow, Sara L., Eisenbeis, Scott, Guerra, Norma E., Krolczyk, Stan, Miller, Nicole, Morales, Ana, Ramesan, Prameela, Sarafrazi, Soodabeh, Truty, Rebecca, Dahir, Kathryn

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Experience analysing over 190,000 embryo trophectoderm biopsies using a novel FAST-SeqS preimplantation genetic testing assay von Walters-Sen, Lauren, Neitzel, Dana, Bristow, Sara L., Mitchell, Asia, Alouf, Charlene A., Aradhya, Swaroop, Faulkner, Nicole

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Editing the human genome: where ART and science intersect von Hershlag, Avner, Bristow, Sara L.

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Value of genetic testing for pediatric epilepsy: Driving earlier diagnosis of ceroid lipofuscinosis type 2 Batten disease von Leal‐Pardinas, Fernanda, Truty, Rebecca, McKnight, Dianalee A., Johnson, Britt, Morales, Ana, Bristow, Sara L., Yar Pang, Tiffany, Cohen‐Pfeffer, Jessica, Izzo, Emanuela, Sankar, Raman, Koh, Sookyong, Wirrell, Elaine C., Millichap, John J., Aradhya, Swaroop

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Choosing an expanded carrier screening panel: comparing two panels at a single fertility centre von Bristow, Sara L., Morris, Joshua M., Peyser, Alexandra, Gamma, Amber, Singer, Tomer, Mullin, Christine, Onel, Kenan, Hershlag, Avner

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Is Fertility Preservation Feasible and Safe With Neoadjuvant Therapy for Breast Cancer? von Hershlag, Avner, Mullin, Christine, Bristow, Sara L

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The potential impact of tumor suppressor genes on human gametogenesis: a case-control study von Hershlag, Avner, Peyser, Alexandra, Bristow, Sara L, Puig, Oscar, Pollock, Andrew, Niknazar, Mohamad, Mills, Alea A

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Prevention of Leber congenital amaurosis through preimplantation genetic diagnosis von Kodsi, Sylvia R., Bristow, Sara L., Fox, Joyce E., Hershlag, Avner

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Evaluating genetic ancestry and self-reported ethnicity in the context of carrier screening von Shraga, Roman, Yarnall, Sarah, Elango, Sonya, Manoharan, Arun, Rodriguez, Sally Ann, Bristow, Sara L, Kumar, Neha, Niknazar, Mohammad, Hoffman, David, Ghadir, Shahin, Vassena, Rita, Chen, Serena H, Hershlag, Avner, Grifo, Jamie, Puig, Oscar

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Clinical Impact of Pathogenic Variants in DNA Damage Repair Genes beyond BRCA1 and BRCA2 in Breast and Ovarian Cancer Patients von Espinel, Whitney, Champine, Marjan, Hampel, Heather, Jeter, Joanne, Sweet, Kevin, Pilarski, Robert, Pearlman, Rachel, Shane, Kate, Brock, Pamela, Westman, Judith A, Kipnis, Lindsay, Sotelo, Jilliane, Chittenden, Anu, Culver, Samantha, Stopfer, Jill E, Schneider, Katherine A, Sacca, Rosalba, Koeller, Diane R, Gaonkar, Shraddha, Vaccari, Erica, Kane, Sarah, Michalski, Scott T, Yang, Shan, Nielsen, Sarah M, Bristow, Sara L, Lincoln, Stephen E, Nussbaum, Robert L, Esplin, Edward D

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Presence of the V122I Variant of Hereditary Transthyretin-Mediated Amyloidosis Among Self-Reported White Individuals in a Sponsored Genetic Testing Program von Trachtenberg, Barry H., Shah, Sachin K., Nussbaum, Robert L., Bristow, Sara L., Malladi, Ruthvik, Vatta, Matteo

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