Search Results - "Conta, Jessie H."

Laboratory Stewardship for Clinical Genetic Testing by Conta, Jessie H.

“…Purpose of Review Genetic test stewardship programs are increasingly common within hospital and reference laboratories, as are genetic test optimization…”
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Promoting Health Equity Through Effective Laboratory Stewardship Strategies by Kroner, Grace M., Katzman, Brooke M., Chambliss, Allison B., Conta, Jessie H., Dickerson, Jane A.

“…There is a close relationship between the goals of laboratory stewardship and efforts to improve health equity for vulnerable populations. Laboratory…”
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Are We Ready for Newborn Genome Screening? by Dickerson, Jane A, Conta, Jessie H

“…The first, the NBSeq project, involved WES of samples from deidentified newborn blood spots in California; the preliminary data revealed that up to 20% of…”
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Evaluation of Exome Sequencing Criteria for Hospital Stewardship and Insurance Authorization at a Pediatric Hospital by Wittowski, Claire L, Clowes Candadai, Sarah, Perrone, Marie E, Gallego, Daniel F, Conta, Jessie H, Dickerson, Jane A

“…Genomic molecular testing practices in a pediatric tertiary care institution can vary in utility by patient indication. To evaluate exome sequencing (ES)…”
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The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant by Koolen, David A, Pfundt, Rolph, Linda, Katrin, Beunders, Gea, Veenstra-Knol, Hermine E, Conta, Jessie H, Fortuna, Ana Maria, Gillessen-Kaesbach, Gabriele, Dugan, Sarah, Halbach, Sara, Abdul-Rahman, Omar A, Winesett, Heather M, Chung, Wendy K, Dalton, Marguerite, Dimova, Petia S, Mattina, Teresa, Prescott, Katrina, Zhang, Hui Z, Saal, Howard M, Hehir-Kwa, Jayne Y, Willemsen, Marjolein H, Ockeloen, Charlotte W, Jongmans, Marjolijn C, Van der Aa, Nathalie, Failla, Pinella, Barone, Concetta, Avola, Emanuela, Brooks, Alice S, Kant, Sarina G, Gerkes, Erica H, Firth, Helen V, Õunap, Katrin, Bird, Lynne M, Masser-Frye, Diane, Friedman, Jennifer R, Sokunbi, Modupe A, Dixit, Abhijit, Splitt, Miranda, Kukolich, Mary K, McGaughran, Julie, Coe, Bradley P, Flórez, Jesús, Nadif Kasri, Nael, Brunner, Han G, Thompson, Elizabeth M, Gecz, Jozef, Romano, Corrado, Eichler, Evan E, de Vries, Bert B A

“…The Koolen-de Vries syndrome (KdVS; OMIM #610443), also known as the 17q21.31 microdeletion syndrome, is a clinically heterogeneous disorder characterised by…”
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The current landscape of genetic test stewardship: A multi‐center prospective study by Kieke, Michele C., Conta, Jessie H., Riley, Jacquelyn D., Zetzsche, Lindsay H.

“…Genetic counselors (GCs) play a pivotal role in selecting clinically appropriate and cost‐effective genetic testing. Several single‐institution reports over…”
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Adding value to genetic testing through utilization management: Commercial laboratory's experience by Londre, Gina K., Zaleski, Christina A., Conta, Jessie H.

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Improving the value of costly genetic reference laboratory testing with active utilization management by Dickerson, Jane A, Cole, Bonnie, Conta, Jessie H, Wellner, Monica, Wallace, Stephanie E, Jack, Rhona M, Rutledge, Joe, Astion, Michael L

“…Tests that are performed outside of the ordering institution, send-out tests, represent an area of risk to patients because of complexity associated with…”
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Preventing Genetic Testing Order Errors With a Laboratory Utilization Management Program by Mathias, Patrick C., Conta, Jessie H., Konnick, Eric Q., Sternen, Darci L., Stasi, Shannon M., Cole, Bonnie L., Astion, Michael L., Dickerson, Jane A.

“…Objectives: To characterize error rates for genetic test orders between medical specialties and in different settings by examining detailed order information…”
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Genetic testing utilization and the role of the laboratory genetic counselor by Kotzer, Katrina E., Riley, Jacquelyn D., Conta, Jessie H., Anderson, Claire M., Schahl, Kimberly A., Goodenberger, McKinsey L.

“…Laboratory genetic counselors within hospital laboratories and genetic testing laboratories have an important role in increasing the appropriate utilization of…”
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Practices and Policies of Clinical Exome Sequencing Providers: Analysis and Implications by Jamal, Seema M., Yu, Joon-Ho, Chong, Jessica X., Dent, Karin M., Conta, Jessie H., Tabor, Holly K., Bamshad, Michael J.

“…Exome and whole genome sequencing (ES/WGS) offer potential advantages over traditional approaches to diagnostic genetic testing. Consequently, use of ES/WGS in…”
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De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot by Seidman, Christine E, Greenway, Steven C, Pereira, Alexandre C, Lin, Jennifer C, DePalma, Steven R, Israel, Samuel J, Mesquita, Sonia M, Ergul, Emel, Conta, Jessie H, Korn, Joshua M, McCarroll, Steven A, Gorham, Joshua M, Gabriel, Stacey, Altshuler, David M, de Lourdes Quintanilla-Dieck, Maria, Artunduaga, Maria Alexandra, Eavey, Roland D, Plenge, Robert M, Shadick, Nancy A, Weinblatt, Michael E, De Jager, Philip L, Hafler, David A, Breitbart, Roger E, Seidman, Jonathan G

“…Tetralogy of Fallot (TOF), the most common severe congenital heart malformation, occurs sporadically, without other anomaly, and from unknown cause in 70% of…”
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Single-nucleotide polymorphism arrays and unexpected consanguinity: considerations for clinicians when returning results to families by Delgado, Fernanda, Tabor, Holly K., Chow, Penny M., Conta, Jessie H., Feldman, Kenneth W., Tsuchiya, Karen D., Beck, Anita E.

“…The broad use of single-nucleotide polymorphism microarrays has increased identification of unexpected consanguinity. Therefore, guidelines to address…”
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A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations by Wallace, Stephanie E, Conta, Jessie H, Winder, Thomas L, Willer, Tobias, Eskuri, Jamie M, Haas, Richard, Patterson, Kathleen, Campbell, Kevin P, Moore, Steven A, Gospe, Sidney M

“…Abstract Mutations in POMT1 lead to a group of neuromuscular conditions ranging in severity from Walker–Warburg syndrome to limb girdle muscular dystrophy. We…”
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Evaluation of Exome Sequencing Criteria for Hospital Stewardship and Insurance Authorization at a Pediatric Hospital by Wittowski, Claire L, Candadai, Sarah Clowes, Perrone, Marie E, Gallego, Daniel F, Conta, Jessie H, Dickerson, Jane A

“…* Context.--Genomic molecular testing practices in a pediatric tertiary care institution can vary in utility by patient indication. Objective.--To evaluate…”
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Chapter 31 - Genomics of Congenital Heart Disease by Conta, Jessie H., Breitbart, Roger E.

“…This chapter reviews the current knowledge of the molecular genetics and genomics of congenital heart disease (CHD). Recommendations for genetic evaluation of…”
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CHAPTER 65 - Genomics of Congenital Heart Disease by Conta, Jessie H., Breitbart, Roger E.

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