Identification of Neuropsychiatric Copy Number Variants in a Health Care System Population
Martin, Christa Lese, Wain, Karen E, Oetjens, Matthew T, Tolwinski, Kasia, Palen, Emily, Hare-Harris, Abby, Habegger, Lukas, Maxwell, Evan K, Reid, Jeffrey G, Walsh, Lauren Kasparson, Myers, Scott M, Ledbetter, David H
Published in JAMA psychiatry (Chicago, Ill.) (01.12.2020)
Published in JAMA psychiatry (Chicago, Ill.) (01.12.2020)
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Journal Article
Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy
Moreno-De-Luca, Andrés, Millan, Francisca, Pesacreta, Denis R, Elloumi, Houda Z, Oetjens, Matthew T, Teigen, Claire, Wain, Karen E, Scuffins, Julie, Myers, Scott M, Torene, Rebecca I, Gainullin, Vladimir G, Arvai, Kevin, Kirchner, H. Lester, Ledbetter, David H, Retterer, Kyle, Martin, Christa L
Published in JAMA : the journal of the American Medical Association (02.02.2021)
Published in JAMA : the journal of the American Medical Association (02.02.2021)
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Defining critical educational components of informed consent for genetic testing: views of US-based genetic counselors and medical geneticists
Hallquist, Miranda L G, Borensztein, Maia J, Coughlin, 2nd, Curtis R, Buchanan, Adam H, Andrew Faucett, W, Peay, Holly L, Smith, Maureen E, Tricou, Eric P, Uhlmann, Wendy R, Wain, Karen E, Ormond, Kelly E
Published in European journal of human genetics : EJHG (01.10.2023)
Published in European journal of human genetics : EJHG (01.10.2023)
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Journal Article
Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
Waggoner, Darrel, Wain, Karen E., Dubuc, Adrian M., Conlin, Laura, Hickey, Scott E., Lamb, Allen N., Martin, Christa Lese, Morton, Cynthia C., Rasmussen, Kristen, Schuette, Jane L., Schwartz, Stuart, Miller, David T.
Published in Genetics in medicine (01.10.2018)
Published in Genetics in medicine (01.10.2018)
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Journal Article
Prevalence and Penetrance of Rare Pathogenic Variants in Neurodevelopmental Psychiatric Genes in a Health Care System Population
Shimelis, Hermela, Oetjens, Matthew T., Walsh, Lauren K., Wain, Karen E., Znidarsic, Masa, Myers, Scott M., Finucane, Brenda M., Ledbetter, David H., Martin, Christa Lese
Published in The American journal of psychiatry (01.01.2023)
Published in The American journal of psychiatry (01.01.2023)
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Slice Testing-Considerations from Ordering to Reporting: A Joint Report of the Association for Molecular Pathology, College of American Pathologists, and National Society of Genetic Counselors
SoRelle, Jeffrey A, Funke, Birgit H, Eno, Celeste C, Ji, Jianling, Santani, Avni, Bayrak-Toydemir, Pinar, Wachsmann, Megan, Wain, Karen E, Mao, Rong
Published in The Journal of molecular diagnostics : JMD (01.03.2024)
Published in The Journal of molecular diagnostics : JMD (01.03.2024)
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Measuring quality and value in genetic counseling: The current landscape and future directions
Higgs, Emily, Wain, Karen E., Wynn, Julia, Cho, Megan T., Higgins, Sonja, Blaisdell, David, Dugan, Donna, Valek, Sara, Cohen, Stephanie
Published in Journal of genetic counseling (01.04.2023)
Published in Journal of genetic counseling (01.04.2023)
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The value of genomic variant ClinVar submissions from clinical providers: Beyond the addition of novel variants
Wain, Karen E., Palen, Emily, Savatt, Juliann M., Shuman, Devin, Finucane, Brenda, Seeley, Andrea, Challman, Thomas D., Myers, Scott M., Martin, Christa Lese
Published in Human mutation (01.11.2018)
Published in Human mutation (01.11.2018)
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Journal Article
Leveraging population‐based exome screening to impact clinical care: The evolution of variant assessment in the Geisinger MyCode research project
Kelly, Melissa A, Leader, Joseph B, Wain, Karen E, Bodian, Dale, Oetjens, Matthew T, Ledbetter, David H, Martin, Christa L, Strande, Natasha T
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.03.2021)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.03.2021)
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Appreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart review
Wain, Karen E., Ellingson, Marissa S., McDonald, Jamie, Gammon, Amanda, Roberts, Maegan, Pichurin, Pavel, Winship, Ingrid, Riegert-Johnson, Douglas L., Weitzel, Jeffrey N., Lindor, Noralane M.
Published in Genetics in medicine (01.08.2014)
Published in Genetics in medicine (01.08.2014)
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Developing a conceptual, reproducible, rubric-based approach to consent and result disclosure for genetic testing by clinicians with minimal genetics background
Ormond, Kelly E., Hallquist, Miranda L. G., Buchanan, Adam H., Dondanville, Danielle, Cho, Mildred K., Smith, Maureen, Roche, Myra, Brothers, Kyle B., Coughlin, Curtis R., Hercher, Laura, Hudgins, Louanne, Jamal, Seema, Levy, Howard P., Raskin, Misha, Stosic, Melissa, Uhlmann, Wendy, Wain, Karen E., Currey, Erin, Faucett, W. Andrew
Published in Genetics in medicine (01.03.2019)
Published in Genetics in medicine (01.03.2019)
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Uncertainty in healthcare and health decision making: Five methodological and conceptual research recommendations from an interdisciplinary team
Simonovic, Nicolle, Taber, Jennifer M., Scherr, Courtney L., Dean, Marleah, Hua, Jacqueline, Howell, Jennifer L., Chaudhry, Beenish M., Wain, Karen E., Politi, Mary C.
Published in Journal of behavioral medicine (01.08.2023)
Published in Journal of behavioral medicine (01.08.2023)
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Journal Article
Variant interpretation is a component of clinical practice among genetic counselors in multiple specialties
Wain, Karen E., Azzariti, Danielle R., Goldstein, Jennifer L., Johnson, Amy Knight, Krautscheid, Patti, Lepore, Brianna, O’Daniel, Julianne M., Ritter, Deborah, Savatt, Juliann M., Riggs, Erin Rooney, Martin, Christa Lese
Published in Genetics in medicine (01.04.2020)
Published in Genetics in medicine (01.04.2020)
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Journal Article
ClinGen's GenomeConnect registry enables patient‐centered data sharing
Savatt, Juliann M., Azzariti, Danielle R., Faucett, W. Andrew, Harrison, Steven, Hart, Jennifer, Kattman, Brandi, Landrum, Melissa J., Ledbetter, David H., Miller, Vanessa Rangel, Palen, Emily, Rehm, Heidi L., Rhode, Jud, Turner, Stefanie, Vidal, Jo Anne, Wain, Karen E., Riggs, Erin Rooney, Martin, Christa Lese
Published in Human mutation (01.11.2018)
Published in Human mutation (01.11.2018)
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Journal Article
Application of a framework to guide genetic testing communication across clinical indications
Hallquist, Miranda L G, Tricou, Eric P, Ormond, Kelly E, Savatt, Juliann M, Coughlin, 2nd, Curtis R, Faucett, W Andrew, Hercher, Laura, Levy, Howard P, O'Daniel, Julianne M, Peay, Holly L, Stosic, Melissa, Smith, Maureen, Uhlmann, Wendy R, Wand, Hannah, Wain, Karen E, Buchanan, Adam H
Published in Genome medicine (29.04.2021)
Published in Genome medicine (29.04.2021)
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GATAD2B-associated neurodevelopmental disorder (GAND) : clinical and molecular insights into a NuRD-related disorder
Shieh, Christine, Jones, Natasha, Vanle, Brigitte, Au, Margaret, Huang, Alden Y, Silva, Ana P G, Lee, Hane, Douine, Emilie D, Otero, Maria G, Choi, Andrew, Grand, Katheryn, Taff, Ingrid P, Delgado, Mauricio R, Hajianpour, M J, Seeley, Andrea, Rohena, Luis, Vernon, Hilary, Gripp, Karen W, Vergano, Samantha A, Mahida, Sonal, Naidu, Sakkubai, Fonseca Vieira Álvares Sousa Ferrand Almeida, Ana Berta, Wain, Karen E, Challman, Thomas D, Beek, Geoffrey, Basel, Donald, Ranells, Judith, Smith, Rosemarie, Yusupov, Roman, Freckmann, Mary-Louise, Ohden, Lisa, Davis-Keppen, Laura, Chitayat, David, Dowling, James J, Finkel, Richard, Dauber, Andrew, Spillmann, Rebecca, Pena, Loren D M, Metcalfe, Kay, Splitt, Miranda, Lachlan, Katherine, McKee, Shane A, Hurst, Jane, Fitzpatrick, David R, Morton, Jenny E V, Cox, Helen, Venkateswaran, Sunita, Young, Juan I, Marsh, Eric D, Nelson, Stanley F, Martinez, Julian A, Graham, John M, Kini, Usha, Mackay, Joel P, Pierson, Tyler Mark
Published in Genetics in medicine (01.05.2020)
Published in Genetics in medicine (01.05.2020)
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Journal Article
Expanding the Phenotype of TUBB2A-Related Tubulinopathy: Three Cases of a Novel, Heterozygous TUBB2A Pathogenic Variant p.Gly98Arg
Schmidt, Lindsey, Wain, Karen E., Hajek, Catherine, Estrada-Veras, Juvianee I., Guillen Sacoto, Maria J., Wentzensen, Ingrid M., Malhotra, Alka, Clause, Amanda, Perry, Denise, Moreno-De-Luca, Andres, Bell, Megan
Published in Molecular syndromology (01.03.2021)
Published in Molecular syndromology (01.03.2021)
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Journal Article
Looking Back and Moving Forward: An Historical Perspective from Laboratory Genetic Counselors
Zetzsche, Lindsay H., Kotzer, Katrina E., Wain, Karen E.
Published in Journal of genetic counseling (01.06.2014)
Published in Journal of genetic counseling (01.06.2014)
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Journal Article
Population Genomic Screening for Genetic Etiologies of Neurodevelopmental/Psychiatric Disorders Demonstrates Personal Utility and Positive Participant Responses
Wain, Karen E., Tolwinski, Kasia, Palen, Emily, Heidlebaugh, Alexis R., Holdren, Karahlyn, Walsh, Lauren Kasparson, Oetjens, Matthew T., Ledbetter, David H., Martin, Christa Lese
Published in Journal of personalized medicine (01.05.2021)
Published in Journal of personalized medicine (01.05.2021)
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Journal Article
GATAD2B-associatedneurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-relateddisorder
Shieh, Christine, Jones, Natasha, Vanle Brigitte, Au, Margaret, Huang, Alden Y, Silva, Ana P, Hane, Lee, Douine, Emilie D, Otero, Maria G, Choi, Andrew, Grand Katheryn, Taff, Ingrid P, Delgado, Mauricio R, Hajianpour, M J, Seeley, Andrea, Rohena Luis, Vernon, Hilary, Gripp, Karen W, Vergano Samantha A, Mahida Sonal, Naidu Sakkubai, Sousa, Ana Berta, Wain, Karen E, Challman, Thomas D, Beek, Geoffrey, Basel Donald, Ranells, Judith, Smith, Rosemarie, Yusupov Roman, Mary-Louise, Freckmann, Ohden Lisa, Davis-Keppen, Laura, Chitayat, David, Dowling, James J, Finkel, Richard, Dauber, Andrew, Spillmann, Rebecca, Pena Loren D M, Metcalfe, Kay, Splitt Miranda, Lachlan, Katherine, McKee, Shane A, Hurst, Jane, Fitzpatrick, David R, Morton, Jenny E, Cox, Helen, Venkateswaran Sunita, Young, Juan I, Marsh, Eric D, Nelson, Stanley F, Martinez, Julian A, Graham, John M, Kini Usha, Mackay, Joel P, Pierson, Tyler Mark
Published in Genetics in medicine (01.05.2020)
Published in Genetics in medicine (01.05.2020)
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