Patient Education and Informed Consent for Preimplantation Genetic Diagnosis: Health Literacy for Genetics and Assisted Reproductive Technology

由 McGowan, Michelle L., Burant, Chris, Moran, Rocio, Farrell, Ruth
出版 2009

Systemic Connective Tissue Features in Women with Fibromuscular Dysplasia

由 O’Connor, Sarah, Kim, Esther S. H., Brinza, Ellen, Moran, Rocio, Fendrikova-Mahlay, Natalia, Wolski, Kathy, Gornik, Heather L.
發表在 Vasc Med (2015)

Patient Decisions to Receive Secondary Pharmacogenomic Findings and Development of a Multidisciplinary Practice Model to Integrate Results Into Patient Care

由 Hicks, J. Kevin, Shealy, Amy, Schreiber, Allison, Coleridge, Marissa, Noss, Ryan, Natowicz, Marvin, Moran, Rocio, Moss, Timothy, Erwin, Angelika, Eng, Charis
發表在 Clin Transl Sci (2017)

Deletion of conserved non‐coding sequences downstream from NKX2‐1: A novel disease‐causing mechanism for benign hereditary chorea

由 Liao, Jun, Coffman, Keith A., Locker, Joseph, Padiath, Quasar S., Nmezi, Bruce, Filipink, Robyn A., Hu, Jie, Sathanoori, Malini, Madan‐Khetarpal, Suneeta, McGuire, Marianne, Schreiber, Allison, Moran, Rocio, Friedman, Neil, Hoffner, Lori, Rajkovic, Aleksandar, Yatsenko, Svetlana A., Surti, Urvashi
發表在 Mol Genet Genomic Med (2021)

Distinctive Phenotype in 9 Patients with Deletion of Chromosome 1q24-q25

由 Burkardt, Deepika D’Cunha, Rosenfeld, Jill A., Helgeson, Maria, Angle, Brad, Banks, Valerie, Smith, Wendy, Gripp, Karen W., Moline, Jessica, Moran, Rocio, Niyazov, Dmitriy M., Stevens, Cathy, Zackai, Elaine, Lebel, Robert Roger, Ashley, Douglas, Kramer, Nancy, Lachman, Ralph S., Graham, John M.
出版 2011

Aortic Disease Presentation and Outcome Associated with ACTA2 mutations

由 Regalado, Ellen S., Guo, Dongchuan, Prakash, Siddharth, Bensend, Tracy A., Flynn, Kelly, Estrera, Anthony, Safi, Hazim, Liang, David, Hyland, James, Child, Anne, Arno, Gavin, Boileau, Catherine, Jondeau, Guillaume, Braverman, Alan, Moran, Rocio, Morisaki, Takayuki, Morisaki, Hiroko, Consortium, Montalcino Aortic, Pyeritz, Reed, Coselli, Joseph, LeMaire, Scott, Milewicz, Dianna M.
發表在 Circ Cardiovasc Genet (2015)

LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections

由 Guo, Dong-chuan, Regalado, Ellen S., Gong, Limin, Duan, Xueyan, Santos-Cortez, Regie Lyn P., Arnaud, Pauline, Ren, Zhao, Cai, Bo, Hostetler, Ellen M., Moran, Rocio, Liang, David, Estrera, Anthony, Safi, Hazim J, Leal, Suzanne M., Bamshad, Michael J., Shendure, Jay, Nickerson, Deborah A., Jondeau, Guillaume, Boileau, Catherine, Milewicz, Dianna M.
發表在 Circ Res (2016)

USP7 acts as a molecular rheostat to promote WASH-dependent endosomal protein recycling and is mutated in a human neurodevelopmental disorder

由 Hao, Yi-Heng, Fountain, Michael D., Tacer, Klementina Fon, Xia, Fan, Bi, Weimin, Kang, Sung-Hae L., Patel, Ankita, Rosenfeld, Jill A., Caignec, Cédric Le, Isidor, Bertrand, Krantz, Ian D., Noon, Sarah E., Pfotenhauer, Jean P., Morgan, Thomas M., Moran, Rocio, Pedersen, Robert C., Saenz, Margarita S., Schaaf, Christian P., Potts, Patrick Ryan
發表在 Mol Cell (2015)

MAT2A Mutations Predispose Individuals to Thoracic Aortic Aneurysms

由 Guo, Dong-chuan, Gong, Limin, Regalado, Ellen S., Santos-Cortez, Regie L., Zhao, Ren, Cai, Bo, Veeraraghavan, Sudha, Prakash, Siddharth K., Johnson, Ralph J., Muilenburg, Ann, Willing, Marcia, Jondeau, Guillaume, Boileau, Catherine, Pannu, Hariyadarshi, Moran, Rocio, Debacker, Julie, Bamshad, Michael J., Shendure, Jay, Nickerson, Deborah A., Leal, Suzanne M., Raman, C.S., Swindell, Eric C., Milewicz, Dianna M.
發表在 Am J Hum Genet (2015)

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

由 Lamb, Allen N., Rosenfeld, Jill A., Neill, Nicholas J., Talkowski, Michael E., Blumenthal, Ian, Girirajan, Santhosh, Keelean-Fuller, Debra, Fan, Zheng, Pouncey, Jill, Stevens, Cathy, Mackay-Loder, Loren, Terespolsky, Deborah, Bader, Patricia, Rosenbaum, Kenneth, Vallee, Stephanie, Moeschler, John B., Ladda, Roger, Sell, Susan, Martin, Judith, Ryan, Shawnia, Jones, Marilyn C., Moran, Rocio, Shealy, Amy, Madan-Khetarpal, Suneeta, McConnell, Juliann, Surti, Urvashi, Delahaye, Andrée, Heron-Longe, Bénédicte, Pipiras, Eva, Benzacken, Brigitte, Passemard, Sandrine, Verloes, Alain, Isidor, Bertrand, Le Caignec, Cedric, Glew, Gwen M., Opheim, Kent E., Eichler, Evan E., Morton, Cynthia C., Gusella, James F., Schultz, Roger A., Ballif, Blake C., Shaffer, Lisa G.
出版 2012

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

由 Fountain, Michael D., Oleson, David S., Rech, Megan E., Segebrecht, Lara, Hunter, Jill V., McCarthy, John M., Lupo, Philip J., Holtgrewe, Manuel, Moran, Rocio, Rosenfeld, Jill A., Isidor, Bertrand, Le Caignec, Cédric, Saenz, Margarita S., Pedersen, Robert C., Morgan, Thomas M., Pfotenhauer, Jean P., Xia, Fan, Bi, Weimin, Kang, Sung-Hae L., Patel, Ankita, Krantz, Ian D., Raible, Sarah E., Smith, Wendy, Cristian, Ingrid, Torti, Erin, Juusola, Jane, Millan, Francisca, Wentzensen, Ingrid M., Person, Richard E., Küry, Sébastien, Bézieau, Stéphane, Uguen, Kévin, Férec, Claude, Munnich, Arnold, van Haelst, Mieke, Lichtenbelt, Klaske D., van Gassen, Koen, Hagelstrom, Tanner, Chawla, Aditi, Perry, Denise L., Taft, Ryan J., Jones, Marilyn, Masser-Frye, Diane, Dyment, David, Venkateswaran, Sunita, Li, Chumei, Escobar, Luis F., Horn, Denise, Spillmann, Rebecca C., Peña, Loren, Wierzba, Jolanta, Strom, Tim M., Parenti, Ilaria, Kaiser, Frank J., Ehmke, Nadja, Schaaf, Christian P.
發表在 Genet Med (2019)