Search Results - "Bristow, Sara L."

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

“…Astrocytomas are the most common malignant glial tumors. With improved prognosis, it is possible for patients to pursue pregnancy post-treatment. However, with…”
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The Impact of Proband Indication for Genetic Testing on the Uptake of Cascade Testing Among Relatives by Schmidlen, Tara J, Bristow, Sara L, Hatchell, Kathryn E, Esplin, Edward D, Nussbaum, Robert L, Haverfield, Eden V

“…Although multiple factors can influence the uptake of cascade genetic testing, the impact of proband indication has not been studied. We performed a…”
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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 by Ashcraft, Kristine, Grande, Kendra, Bristow, Sara L, Moyer, Nicolas, Schmidlen, Tara, Moretz, Chad, Wick, Jennifer A, Blaxall, Burns C

“…Utilizing pharmacogenomic (PGx) testing and integrating evidence-based guidance in drug therapy enables an improved treatment response and decreases the…”
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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 by 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.

“…Background: Spinal muscular atrophy (SMA) linked to chromosome 5q is an inherited progressive neuromuscular disorder with a narrow therapeutic window for…”
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Is Fertility Preservation Feasible and Safe With Neoadjuvant Therapy for Breast Cancer? by 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 by 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

“…To report on pathogenic germline variants detected among individuals undergoing genetic testing for hereditary breast and/or ovarian cancer (HBOC) from Latin…”
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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 by Peyser, Alexandra, Singer, Tomer, Mullin, Christine, Bristow, Sara L., Gamma, Amber, Onel, Kenan, Hershlag, Avner

“…Purpose To evaluate the efficiency of expanded carrier screening (ECS) compared with ethnicity-based screening in identifying carriers. Methods A total of 4232…”
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Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR by Nykamp, Keith, Truty, Rebecca, Riethmaier, Darlene, Wilkinson, Julia, Bristow, Sara L., Aguilar, Sienna, Neitzel, Dana, Faulkner, Nicole, Aradhya, Swaroop

“…Biallelic pathogenic variants in CFTR manifest as cystic fibrosis (CF) or other CFTR‐related disorders (CFTR‐RDs). The 5T allele, causing alternative splicing…”
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Democratizing genomics: Leveraging software to make genetics an integral part of routine care by Snir, Moran, Nazareth, Shivani, Simmons, Emilie, Hayward, Laura, Ashcraft, Kristine, Bristow, Sara L., Esplin, Edward D., Aradhya, Swaroop

“…Genetic testing can provide definitive molecular diagnoses and guide clinical management decisions from preconception through adulthood. Innovative solutions…”
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Molecular Diagnoses of X‐Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing Program by 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

“…ABSTRACT X‐linked hypophosphatemia (XLH), a dominant disorder caused by pathogenic variants in the PHEX gene, affects both sexes of all ages and results in…”
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Experience analysing over 190,000 embryo trophectoderm biopsies using a novel FAST-SeqS preimplantation genetic testing assay by Walters-Sen, Lauren, Neitzel, Dana, Bristow, Sara L., Mitchell, Asia, Alouf, Charlene A., Aradhya, Swaroop, Faulkner, Nicole

“…•FAST-SeqS is an extensively validated, accurate, automated, and scalable PGT-A assay•Observed aneuploidy rates in >190,000 clinical samples are similar to…”
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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 by 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.

“…Purpose To evaluate the impact of technically challenging variants on the implementation, validation, and diagnostic yield of commonly used clinical genetic…”
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Editing the human genome: where ART and science intersect by Hershlag, Avner, Bristow, Sara L.

“…The rapid development of gene-editing technologies has led to an exponential rise in both basic and translational research initiatives studying molecular…”
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Evaluating genetic ancestry and self-reported ethnicity in the context of carrier screening by 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

“…Current professional society guidelines recommend genetic carrier screening be offered on the basis of ethnicity, or when using expanded carrier screening…”
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Value of genetic testing for pediatric epilepsy: Driving earlier diagnosis of ceroid lipofuscinosis type 2 Batten disease by 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

“…This study assessed the effectiveness of genetic testing in shortening the time to diagnosis of late infantile neuronal ceroid lipofuscinosis type 2 (CLN2)…”
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Choosing an expanded carrier screening panel: comparing two panels at a single fertility centre by Bristow, Sara L., Morris, Joshua M., Peyser, Alexandra, Gamma, Amber, Singer, Tomer, Mullin, Christine, Onel, Kenan, Hershlag, Avner

“…What are the factors contributing to similarities and differences in carrier rates between two expanded carrier screening (ECS) panels? Retrospective…”
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Is Fertility Preservation Feasible and Safe With Neoadjuvant Therapy for Breast Cancer? by 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 by Hershlag, Avner, Peyser, Alexandra, Bristow, Sara L, Puig, Oscar, Pollock, Andrew, Niknazar, Mohamad, Mills, Alea A

“…Purpose To study the incidence of tumor suppressor gene (TSG) mutations in men and women with impaired gametogenesis. Methods Gene association analyses were…”
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Prevention of Leber congenital amaurosis through preimplantation genetic diagnosis by Kodsi, Sylvia R., Bristow, Sara L., Fox, Joyce E., Hershlag, Avner

“…Preimplantation genetic diagnosis can allow a family with a hereditary genetic mutation to conceive a disease-free child. We report the first published case of…”
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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 by Trachtenberg, Barry H., Shah, Sachin K., Nussbaum, Robert L., Bristow, Sara L., Malladi, Ruthvik, Vatta, Matteo

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