Assessing clinical education tools for expanded carrier screening

由 Dugger, Chloe, Anderson, Hannah S., Miller, Christine E., Wong, Bob, Johnson, Erin P., Rothwell, Erin
發表在 J Genet Couns (2020)

Novel mutation in CCBE 1 as a cause of recurrent hydrops fetalis from Hennekam lymphangiectasia‐lymphedema syndrome‐1

由 Melber, Dora J., Andreasen, Tara S., Mao, Rong, Tvrdik, Tatiana, Miller, Christine E., Moore, Thomas R., Woelkers, Douglas A., Lamale‐Smith, Leah M.
發表在 Clin Case Rep (2018)

Reporting Incidental Findings in Genomic Scale Clinical Sequencing—A Clinical Laboratory Perspective: A Report of the Association for Molecular Pathology

由 Hegde, Madhuri, Bale, Sherri, Bayrak-Toydemir, Pinar, Gibson, Jane, Bone Jeng, Linda Jo, Joseph, Loren, Laser, Jordan, Lubin, Ira M., Miller, Christine E., Ross, Lainie F., Rothberg, Paul G., Tanner, Alice K., Vitazka, Patrik, Mao, Rong
發表在 J Mol Diagn (2015)

De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures

由 Horn, Susanne, Au, Margaret, Basel-Salmon, Lina, Bayrak-Toydemir, Pinar, Chapin, Alexander, Cohen, Lior, Elting, Mariet W, Graham, John M, Gonzaga-Jauregui, Claudia, Konen, Osnat, Holzer, Max, Lemke, Johannes, Miller, Christine E, Rey, Linda K, Wolf, Nicole I, Weiss, Marjan M, Waisfisz, Quinten, Mirzaa, Ghayda M, Wieczorek, Dagmar, Sticht, Heinrich, Abou Jamra, Rami
發表在 Brain (2019)

Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants

由 Brunelli, Luca, Jenkins, Sabrina M., Gudgeon, James M., Bleyl, Steven B., Miller, Christine E., Tvrdik, Tatiana, Dames, Shale A., Ostrander, Betsy, Daboub, Josue A. F., Zielinski, Brandon A., Zinkhan, Erin K., Underhill, Hunter R., Wilson, Theodore, Bonkowsky, Joshua L., Yost, Christian C., Botto, Lorenzo D., Jenkins, Justin, Pysher, Theodore J., Bayrak‐Toydemir, Pinar, Mao, Rong
發表在 Mol Genet Genomic Med (2019)