Megan T. Cho

ScholarGPS® ID: 70422215643338

Affiliation
National Human Genome Research Institute, National Institutes of Health, Bethesda, United States
Affiliation History

Field
Life Sciences
Discipline
Genetics
Top Specialties
Disability | Intellectual Disability | Mutation | Medical Genetics | Exome Sequencing
Metrics Summary
Publication Count
44
Predicted Citations
2,658
Predicted h-index
28
Ranking

Publications and Citation History

Publications based on Top Specialties

Types of Publication

  • Publications
  • Books
  • Patents
  • NIH/NSF
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Beyond multiple choice: Clinical simulation as a rigorous and inclusive method for assessing genetic counseling competencies (journal article)
Cho, Megan T. | Davis, Claire | Lowe, Chenery | Flynn, Maureen | Jamal, Leila | Bajaj, Komal | Atzinger, Carrie | Erby, Lori H.
Journal of Genetic Counseling, volume 33, issue 1, pages 118-123 (2024).
10.1002/jgc4.1878
Cite | Source
Measuring quality and value in genetic counseling: The current landscape and future directions (journal article)
Higgs, Emily | Wain, Karen E. | Wynn, Julia | Cho, Megan T. | Higgins, Sonja | Blaisdell, David | Dugan, Donna | Valek, Sara | Cohen, Stephanie
Journal of Genetic Counseling, volume 32, issue 2, pages 315-324 (2023).
10.1002/jgc4.1657
Cited by (1) | Cite | Source
Advancing the genetic counseling profession through research: Identification of priorities by the National Society of Genetic Counselors research task force (journal article)
Senter, Leigha | Austin, Jehannine C. | Carey, Meghan | Cho, Megan T. | Harris, Stephanie L. | Linnenbringer, Erin L. | MacFarlane, Ian M. | Pan, Vivian Y. | Quillin, John M. | Wynn, Julia | Hooker, Gillian W.
Journal of Genetic Counseling, volume 29, issue 6, pages 884-887 (2020).
10.1002/jgc4.1330
Cited by (9) | Cite | Source
Evolving Roles of Genetic Counselors in the Clinical Laboratory (journal article)
Cho, Megan T. | Guy, Carrie
Cold Spring Harbor Perspectives in Medicine, volume 10, issue 10, pages a036574- (2020).
10.1101/cshperspect.a036574
Cited by (7) | Cite | Source
Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next‐generation sequencing (journal article)
Schmidt, Johanna L. | Pizzino, Amy | Nicholl, Jessica | Foley, Allison | Wang, Yue | Rosenfeld, Jill A. | Mighion, Lindsey | Bean, Lora | da Silva, Cristina | Cho, Megan T. | ... | Vanderver, Adeline
American Journal of Medical Genetics Part A, volume 182, issue 8, pages 1906-1912 (2020).
10.1002/ajmg.a.61641
Cited by (24) | Cite | Source
A qualitative study of Latinx parents' experiences of clinical exome sequencing (journal article)
Luksic, Daniel | Sukhu, Radha | Koval, Carrie | Cho, Megan T. | Espinal, Aileen | Rufino, Katiana | Loarte, Tania Vasquez | Chung, Wendy K. | Wynn, Julia
Journal of Genetic Counseling, volume 29, issue 4, pages 574-586 (2020).
10.1002/jgc4.1276
Cited by (16) | Cite | Source
Impact of patient education videos on genetic counseling outcomes after exome sequencing (journal article)
Hernan, Rebecca | Cho, Megan T. | Wilson, Ashley L. | Ahimaz, Priyanka | Au, Catherine | Berger, Sara M. | Guzman, Edwin | Primiano, Michelle | Shaw, Jessica E. | Ross, Meredith | ... | Wynn, Julia
Patient Education and Counseling, volume 103, issue 1, pages 127-135 (2020).
10.1016/j.pec.2019.08.018
Cited by (18) | Cite | Source
De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy (journal article)
Sega, Annalisa G | Mis, Emily K | Lindstrom, Kristin | Mercimek-Andrews, Saadet | Ji, Weizhen | Cho, Megan T | Juusola, Jane | Konstantino, Monica | Jeffries, Lauren | Khokha, Mustafa K | Lakhani, Saquib Ali
Journal of Medical Genetics, volume 56, issue 2, pages 113-122 (2019).
10.1136/jmedgenet-2018-105322
Cited by (31) | Cite | Source
De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features (journal article)
Douglas, Ganka | Cho, Megan T. | Telegrafi, Aida | Winter, Susan | Carmichael, Jason | Zackai, Elaine H. | Deardorff, Matthew A. | Harr, Margaret | Williams, Linford | Psychogios, Apostolos | ... | Juusola, Jane
American Journal of Medical Genetics Part A, volume 176, issue 9, pages 1845-1851 (2018).
10.1002/ajmg.a.40368
Cited by (19) | Cite | Source
Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability (journal article)
Pilarowski, Genay O | Vernon, Hilary J | Applegate, Carolyn D | Boukas, Leandros | Cho, Megan T | Gurnett, Christina A | Benke, Paul J | Beaver, Erin | Heeley, Jennifer M | Medne, Livija | ... | Bjornsson, Hans T
Journal of Medical Genetics, volume 55, issue 8, pages 561-566 (2018).
10.1136/jmedgenet-2017-104759
Cited by (45) | Cite | Source
Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance (journal article)
Powis, Z. | Farwell Hagman, K.D. | Mroske, C. | McWalter, K. | Cohen, J.S. | Colombo, R. | Serretti, A. | Fatemi, A. | David, K.L. | Reynolds, J. | ... | Tang, S.
Clinical Genetics, volume 93, issue 4, pages 752-761 (2018).
10.1111/cge.13132
Cited by (21) | Cite | Source | Open Access
Congenital methemoglobinemia type II in a 5‐year‐old boy (journal article)
Mannino, Elizabeth A. | Pluim, Thomas | Wessler, Jacob | Cho, Megan T. | Juusola, Jane | Schrier Vergano, Samantha A.
Clinical Case Reports, volume 6, issue 1, pages 170-178 (2018).
10.1002/ccr3.1310
Cited by (5) | Cite | Source | Open Access
Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila (journal article)
Straub, Jonas | Konrad, Enrico D.H. | Grüner, Johanna | Toutain, Annick | Bok, Levinus A. | Cho, Megan T. | Crawford, Heather P. | Dubbs, Holly | Douglas, Ganka | Jobling, Rebekah | ... | Zweier, Christiane
The American Journal of Human Genetics, volume 102, issue 1, pages 44-57 (2018).
10.1016/j.ajhg.2017.11.008
Cited by (50) | Cite | Source
De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects (journal article)
Slavotinek, Anne | Risolino, Maurizio | Losa, Marta | Cho, Megan T | Monaghan, Kristin G | Schneidman-Duhovny, Dina | Parisotto, Sarah | Herkert, Johanna C | Stegmann, Alexander P A | Miller, Kathryn | ... | Shieh, Joseph
Human Molecular Genetics, volume 26, issue 24, pages 4849-4860 (2017).
10.1093/hmg/ddx363
Cited by (40) | Cite | Source
Loss‐of‐function variants in NFIA provide further support that NFIA is a critical gene in 1p32‐p31 deletion syndrome: A four patient series (journal article)
Revah‐Politi, Anya | Ganapathi, Mythily | Bier, Louise | Cho, Megan T. | Goldstein, David B. | Hemati, Parisa | Iglesias, Alejandro | Juusola, Jane | Pappas, John | Petrovski, Slavé | ... | Anyane‐Yeboa, Kwame
American Journal of Medical Genetics Part A, volume 173, issue 12, pages 3158-3164 (2017).
10.1002/ajmg.a.38460
Cited by (16) | Cite | Source
De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism (journal article)
Tanaka, Akemi J. | Cho, Megan T. | Willaert, Rebecca | Retterer, Kyle | Zarate, Yuri A. | Bosanko, Katie | Stefans, Vikki | Oishi, Kimihiko | Williamson, Amy | Wilson, Golder N. | ... | Chung, Wendy K.
Molecular Case Studies, volume 3, issue 6, pages a002097- (2017).
10.1101/mcs.a002097
Cited by (24) | Cite | Source | Open Access
Utility of rapid whole-exome sequencing in the diagnosis of Niemann–Pick disease type C presenting with fetal hydrops and acute liver failure (journal article)
Rohanizadegan, Mersedeh | Abdo, Sara M. | O'Donnell-Luria, Anne | Mihalek, Ivana | Chen, Peggy | Sanders, Marilyn | Leeman, Kristen | Cho, Megan | Hung, Christina | Bodamer, Olaf
Molecular Case Studies, volume 3, issue 6, pages a002147- (2017).
10.1101/mcs.a002147
Cited by (14) | Cite | Source | Open Access
Association of the missense variant p. Arg203Trp in as a cause of intellectual disability and seizures (journal article)
Stern, D. | Cho, M.T. | Chikarmane, R. | Willaert, R. | Retterer, K. | Kendall, F. | Deardorff, M. | Hopkins, S. | Bedoukian, E. | Slavotinek, A. | ... | Chung, W.K.
Clinical Genetics, volume 92, issue 2, pages 221-223 (2017).
10.1111/cge.12956
Cited by (25) | Cite | Source
Additional de novo missense genetic variants in associated with CLIFAHDD syndrome (journal article)
Vivero, M. | Cho, M.T. | Begtrup, A. | Wentzensen, I.M. | Walsh, L. | Payne, K. | Zarate, Y.A. | Bosanko, K. | Schaefer, G.B. | DeBrosse, S. | ... | Chung, W.K.
Clinical Genetics, volume 91, issue 6, pages 929-931 (2017).
10.1111/cge.12899
Cited by (10) | Cite | Source
De novo loss of function mutations in are associated with epilepsy and neurodevelopmental delay in females (journal article)
Webster, R. | Cho, M.T. | Retterer, K. | Millan, F. | Nowak, C. | Douglas, J. | Ahmad, A. | Raymond, G.V. | Johnson, M.R. | Pujol, A. | ... | Chung, W.K.
Clinical Genetics, volume 91, issue 5, pages 756-763 (2017).
10.1111/cge.12854
Cited by (22) | Cite | Source