Search Results - "Goetsch, Allison"

Clinical utility of early rapid genome sequencing in the evaluation of patients with differences of sex development by Aekka, Apoorva, Weisman, Allison Goetsch, Papadakis, Jaclyn, Yerkes, Elizabeth, Baker, Joshua, Keswani, Mahima, Weinstein, Joanna, Finlayson, Courtney

“…Establishing an early and accurate genetic diagnosis among patients with differences of sex development (DSD) is crucial in guiding the complex medical and…”
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Neurofibromatosis- and schwannomatosis- associated tumors: Approaches to genetic testing and counseling considerations by Goetsch Weisman, Allison, Weiss McQuaid, Shelly, Radtke, Heather B, Stoll, Jessica, Brown, Bryce, Gomes, Alicia

“…Neurofibromatosis (NF) and schwannomatosis (SWN) are genetic conditions characterized by the risk of developing nervous system tumors. Recently revised…”
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Prenatal detection and evaluation of differences of sex development: A qualitative interview study of parental perspectives and unmet needs by Whitehead, J, Hirsch, Josephine, Rosoklija, Ilina, Goetsch Weisman, Allison, Dungan, Jeffrey, Finlayson, Courtney, Chen, Diane, Johnson, Emilie K.

“…Objectives Prenatal diagnoses of differences of sex development (DSD) are increasing due to availability of cell‐free DNA screening (cell‐free DNA screening…”
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Proximal Hypospadias: Isolated Genital Condition or Marker of More? by Johnson, Emilie K, Jacobson, Deborah L, Finlayson, Courtney, Yerkes, Elizabeth B, Goetsch, Allison L, Leeth, Elizabeth A, Cheng, Earl Y

“…The prevalence of endocrine/genetic anomalies in boys with proximal hypospadias is unknown. We describe an endocrine/genetic evaluation for boys with proximal…”
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Genetic Counseling for Neurofibromatosis 1, Neurofibromatosis 2, and Schwannomatosis—Practice Resource of the National Society of Genetic Counselors by Radtke, Heather B., Bergner, Amanda L., Goetsch, Allison L., McGowan, Caroline, Panzer, Karin, Cannon, Ashley

“…The goal of this practice resource is to provide genetic counselors and other healthcare professionals with a resource to reference when providing genetic…”
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Turner Syndrome with Y Chromosome: Spontaneous Thelarche, Menarche, and Risk of Malignancy by Dabrowski, Elizabeth, Johnson, Emilie K., Patel, Vrunda, Hsu, YeoChing, Davis, Shanlee, Goetsch, Allison L., Habiby, Reema, Brickman, Wendy J., Finlayson, Courtney

“…Girls with Turner syndrome with Y-chromosome material (TS + Y) are assumed to have nonfunctional gonads with increased tumor risk, therefore prophylactic…”
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Impact of cell‐free DNA screening on parental knowledge of fetal sex and disorders of sex development by Sofer, Laurel, D'Oro, Anthony, Rosoklija, Ilina, Leeth, Elizabeth A., Goetsch, Allison L., Moses, Scott, Chen, Diane, Finlayson, Courtney, Johnson, Emilie K.

“…Objective Discrepancies between cfDNA and ultrasound predicted fetal sex occur, possibly indicating disorders/differences of sex development (DSDs). Among…”
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O27: Genetic counselor-led exome sequencing clinic pilot program to increase access to pediatric genetic services by Jurgensmeyer, Sarah, Allegretti, Valerie, Weisman, Allison Goetsch, Kim, Katherine, Birriel, Roxanne, Prada, Carlos

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Reproductive Endocrinologists’ Utilization of Genetic Counselors for Oncofertility and Preimplantation Genetic Diagnosis (PGD) Treatment of BRCA1/2 Mutation Carriers by Goetsch, Allison L., Wicklund, Catherine, Clayman, Marla L., Woodruff, Teresa K.

“…Genetic counselors believe fertility preservation and preimplantation genetic diagnosis (PGD) discussions to be a part of their role when counseling BRCA1/2…”
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Neurofibromatosis Type 1 (NF1): Addressing the Transition from Pediatric to Adult Care by Radtke, Heather B, Berger, Angela, Skelton, Tammi, Goetsch Weisman, Allison

“…Health care transition, or HCT, is the process of adolescents and young adults moving from a child/family-centered model of health care to an…”
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Comparison of web-based information about cell-free DNA prenatal screening: implications for differences of sex development care by Kim, Soojin, Finney, Esther L., Naha, Ushasi, Rosoklija, Ilina, Honegger, Kyle S., Goetsch Weisman, Allison, Holl, Jane L., Finlayson, Courtney, Chen, Diane, Johnson, Emilie K.

“…Objective Cell-free DNA (cfDNA) prenatal screening is a commercially available noninvasive test that detects fetal genetic material in maternal blood. While…”
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Proximal Hypospadias—Isolated Genital Condition or Marker of More? by Johnson, Emilie K., Jacobson, Deborah L., Finlayson, Courtney, Yerkes, Elizabeth B., Goetsch, Allison L., Leeth, Elizabeth A., Cheng, Earl Y.

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eP353: Testing for Y chromosome in Turner syndrome by Groner, Victoria, Aufox, Sharon, Leeth, Elizabeth, Leuer, Katrin Carlson, Weisman, Allison Goetsch

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Turner Syndrome With Y Chromosome and Germ Cells: A Case Report Highlighting the Need to Prioritize Individualized Care by Rosen, Jennifer N., Finlayson, Courtney, Papadakis, Jaclyn L., Grabaowksi, Julia, Laronda, Monica M., Rowell, Erin E., Wadhwani, Nitin, Weisman, Allison Goetsch, Johnson, Emilie K.

“…Turner syndrome (TS) is a genetic condition in phenotypic females in which the individual has 1 intact X chromosome and the second sex chromosome is absent or…”
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Cardiovascular Manifestations of Turner Syndrome: Phenotypic Differences Between Karyotype Subtypes by Birjiniuk, Alona, Weisman, Allison Goetsch, Laternser, Christina, Camarda, Joseph, Brickman, Wendy J., Habiby, Reema, Patel, Sheetal R.

“…Turner syndrome (TS) is a genetic disorder presenting in phenotypic females with total or partial monosomy of the X chromosome. Cardiovascular abnormalities…”
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Reply by Authors by Johnson, Emilie K., Jacobson, Deborah L., Finlayson, Courtney, Yerkes, Elizabeth B., Goetsch, Allison L., Leeth, Elizabeth A., Cheng, Earl Y.

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Mixed Gonadal Dysgenesis: A Narrative Literature Review and Clinical Primer for the Urologist by Corona, Lauren E., Lee, Victoria S., Weisman, Allison Goetsch, Rosoklija, Ilina, Hirsch, Josephine, Whitehead, Jax, Almaghraby, Abdullah, Papadakis, Jaclyn, Yuodsnukis, Briahna, Chen, Diane, Finlayson, Courtney, Yerkes, Elizabeth B., Cheng, Earl Y., Johnson, Emilie K.

“…Mixed gonadal dysgenesis is a difference of sex development that is often confused with other conditions. Individuals have a 45,X/46,XY karyotype. Gonads are…”
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Workflow for Management of Gonadal Neoplasm in 2 Patients with Differences of Sex Development Enrolled in an Experimental Gonadal Tissue Cryopreservation Protocol by Abdallah, Aalaa S., Arva, Nicoleta C., Finlayson, Courtney A., Melin-Aldana, Hector, Papadakis, Jaclyn L., Rowell, Erin E., Weisman, Allison Goetsch, Whitehead, J., Yerkes, Elizabeth B., Yuodsnukis, Briahna T., Johnson, Emilie K., Laronda, Monica M.

“…To outline our experimental gonadal tissue cryopreservation (GTC) protocol that does not disrupt the standard of care in medically-indicated gonadectomy for…”
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Outcomes and Associated Extracardiac Malformations in Neonates from Colombia with Severe Congenital Heart Disease by Alvarado, Jorge L., Bermon, Anderson, Florez, Claudia, Castro, Javier, Cruz, Monica, Franco, Helena, Martinez, Camilo, Villegas, Kathy, Shabbir, Nisha, Weisman, Allison Goetsch, Weaver, Kathryn N., Prada, Carlos E.

“…Congenital heart disease (CHD) is a common structural anomaly, affecting ~ 1% of live births worldwide. Advancements in medical and surgical management have…”
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Evaluation and classification of severity for 176 genes on an expanded carrier screening panel by Arjunan, Aishwarya, Bellerose, Holly, Torres, Raul, Ben‐Shachar, Rotem, Hoffman, Jodi D., Angle, Brad, Slotnick, Robert Nathan, Simpson, Brittany N., Lewis, Andrea M., Magoulas, Pilar L., Bontempo, Kelly, Schulze, Jeanine, Tarpinian, Jennifer, Bucher, Jessica A., Dineen, Richard, Goetsch, Allison, Lazarin, Gabriel A., Johansen Taber, Katherine

“…Background Disease severity is important when considering genes for inclusion on reproductive expanded carrier screening (ECS) panels. We applied a validated…”
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