Expectation versus Reality: The Impact of Utility on Emotional Outcomes after Returning Individualized Genetic Research Results in Pediatric Rare Disease Research, a Qualitative In...

by Cacioppo, Cara N., Chandler, Ariel E., Towne, Meghan C., Beggs, Alan H., Holm, Ingrid A.
Published 2016

In the Early Postpartum Period, Parents are Interested in Newborn Genomic Testing

by Waisbren, Susan E., Bäck, Danielle K., Liu, Christina, Kalia, Sarah S., Ringer, Steven A., Holm, Ingrid A., Green, Robert C.
Published 2014

A systematic literature review of individuals' perspectives on broad consent and data sharing in the United States

by Garrison, Nanibaa' A., Sathe, Nila A., Antommaria, Armand H. Matheny, Holm, Ingrid A., Sanderson, Saskia C., Smith, Maureen E., McPheeters, Melissa L., Clayton, Ellen W.
Published 2016

EMR-linked GWAS study: investigation of variation landscape of loci for body mass index in children

by Namjou, Bahram, Keddache, Mehdi, Marsolo, Keith, Wagner, Michael, Lingren, Todd, Cobb, Beth, Perry, Cassandra, Kennebeck, Stephanie, Holm, Ingrid A., Li, Rongling, Crimmins, Nancy A., Martin, Lisa, Solti, Imre, Kohane, Isaac S., Harley, John B.
Published 2013

Family Health History Reporting is Sensitive to Small Changes in Wording

by Conway-Pearson, Liam S., Christensen, Kurt D., Savage, Sarah K., Huntington, Noelle L., Weitzman, Elissa R., Ziniel, Sonja I., Bacon, Phoebe, Cacioppo, Cara N., Green, Robert C., Holm, Ingrid A.
Published 2016

Suboptimal Clinical Documentation in Young Children with Severe Obesity at Tertiary Care Centers

by Brady, Cassandra C., Thaker, Vidhu V., Lingren, Todd, Woo, Jessica G., Kennebeck, Stephanie S., Namjou-Khales, Bahram, Roach, Ashton, Bickel, Jonathan P., Patibandla, Nandan, Savova, Guergana K., Solti, Imre, Holm, Ingrid A., Harley, John B., Kohane, Isaac S., Crimmins, Nancy A.
Published 2016

Bone Disease in Thalassemia: A Frequent and Still Unresolved Problem

by Vogiatzi, Maria G, Macklin, Eric A, Fung, Ellen B, Cheung, Angela M, Vichinsky, Elliot, Olivieri, Nancy, Kirby, Melanie, Kwiatkowski, Janet L, Cunningham, Melody, Holm, Ingrid A, Lane, Joseph, Schneider, Robert, Fleisher, Martin, Grady, Robert W, Peterson, Charles C, Giardina, Patricia J
Published 2009

Characteristics and Predictive Value of Blood Transcriptome Signature in Males with Autism Spectrum Disorders

by Kong, Sek Won, Collins, Christin D., Shimizu-Motohashi, Yuko, Holm, Ingrid A., Campbell, Malcolm G., Lee, In-Hee, Brewster, Stephanie J., Hanson, Ellen, Harris, Heather K., Lowe, Kathryn R., Saada, Adrianna, Mora, Andrea, Madison, Kimberly, Hundley, Rachel, Egan, Jessica, McCarthy, Jillian, Eran, Ally, Galdzicki, Michal, Rappaport, Leonard, Kunkel, Louis M., Kohane, Isaac S.
Published 2012

Electronic Health Record Based Algorithm to Identify Patients with Autism Spectrum Disorder

by Lingren, Todd, Chen, Pei, Bochenek, Joseph, Doshi-Velez, Finale, Manning-Courtney, Patty, Bickel, Julie, Wildenger Welchons, Leah, Reinhold, Judy, Bing, Nicole, Ni, Yizhao, Barbaresi, William, Mentch, Frank, Basford, Melissa, Denny, Joshua, Vazquez, Lyam, Perry, Cassandra, Namjou, Bahram, Qiu, Haijun, Connolly, John, Abrams, Debra, Holm, Ingrid A., Cobb, Beth A., Lingren, Nataline, Solti, Imre, Hakonarson, Hakon, Kohane, Isaac S., Harley, John, Savova, Guergana
Published 2016

A GWAS Study on Liver Function Test Using eMERGE Network Participants

by Namjou, Bahram, Marsolo, Keith, Lingren, Todd, Ritchie, Marylyn D., Verma, Shefali S., Cobb, Beth L., Perry, Cassandra, Kitchner, Terrie E., Brilliant, Murray H., Peissig, Peggy L., Borthwick, Kenneth M., Williams, Marc S., Grafton, Jane, Jarvik, Gail P., Holm, Ingrid A., Harley, John B.
Published 2015

Phenome-wide association study (PheWAS) in EMR-linked pediatric cohorts, genetically links PLCL1 to speech language development and IL5-IL13 to Eosinophilic Esophagitis

by Namjou, Bahram, Marsolo, Keith, Caroll, Robert J., Denny, Joshua C., Ritchie, Marylyn D., Verma, Shefali S., Lingren, Todd, Porollo, Aleksey, Cobb, Beth L., Perry, Cassandra, Kottyan, Leah C., Rothenberg, Marc E., Thompson, Susan D., Holm, Ingrid A., Kohane, Isaac S., Harley, John B.
Published 2014

Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, but Not Ollier Disease or Maffucci Syndrome

by Bowen, Margot E., Boyden, Eric D., Holm, Ingrid A., Campos-Xavier, Belinda, Bonafé, Luisa, Superti-Furga, Andrea, Ikegawa, Shiro, Cormier-Daire, Valerie, Bovée, Judith V., Pansuriya, Twinkal C., de Sousa, Sérgio B., Savarirayan, Ravi, Andreucci, Elena, Vikkula, Miikka, Garavelli, Livia, Pottinger, Caroline, Ogino, Toshihiko, Sakai, Akinori, Regazzoni, Bianca M., Wuyts, Wim, Sangiorgi, Luca, Pedrini, Elena, Zhu, Mei, Kozakewich, Harry P., Kasser, James R., Seidman, Jon G., Kurek, Kyle C., Warman, Matthew L.
Published 2011

Conducting a large, multi-site survey about patients’ views on broad consent: challenges and solutions

by Smith, Maureen E., Sanderson, Saskia C., Brothers, Kyle B., Myers, Melanie F., McCormick, Jennifer, Aufox, Sharon, Shrubsole, Martha J., Garrison, Nanibaá A., Mercaldo, Nathaniel D., Schildcrout, Jonathan S., Clayton, Ellen Wright, Antommaria, Armand H. Matheny, Basford, Melissa, Brilliant, Murray, Connolly, John J., Fullerton, Stephanie M., Horowitz, Carol R., Jarvik, Gail P., Kaufman, Dave, Kitchner, Terri, Li, Rongling, Ludman, Evette J., McCarty, Catherine, McManus, Valerie, Stallings, Sarah, Williams, Janet L., Holm, Ingrid A.
Published 2016

Design and Anticipated Outcomes of the eMERGE-PGx Project: A Multi-Center Pilot for Pre-Emptive Pharmacogenomics in Electronic Health Record Systems

by Rasmussen-Torvik, Laura J., Stallings, Sarah C., Gordon, Adam S., Almoguera, Berta, Basford, Melissa A., Bielinski, Suzette J., Brautbar, Ariel, Brilliant, Murray, Carrell, David S., Connolly, John, Crosslin, David R., Doheny, Kimberly F., Gallego, Carlos J., Gottesman, Omri, Kim, Daniel Seung, Leppig, Kathleen A., Li, Rongling, Lin, Simon, Manzi, Shannon, Mejia, Ana R., Pacheco, Jennifer A., Pan, Vivian, Pathak, Jyotishman, Perry, Cassandra L., Peterson, Josh F., Prows, Cynthia A., Ralston, James, Rasmussen, Luke V., Ritchie, Marylyn D., Sadhasivam, Senthilkumar, Scott, Stuart A., Smith, Maureen, Vega, Aida, Vinks, Alexander A., Volpi, Simona, Wolf, Wendy A., Bottinger, Erwin, Chisholm, Rex L., Chute, Christopher G., Haines, Jonathan L., Harley, John B., Keating, Brendan, Holm, Ingrid A., Kullo, Iftikhar J., Jarvik, Gail P., Larson, Eric B., Manolio, Teri, McCarty, Catherine A., Nickerson, Deborah A., Scherer, Steven E., Williams, Marc S., Roden, Dan M., Denny, Joshua C.
Published 2014

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

by Brownstein, Catherine A, Beggs, Alan H, Homer, Nils, Merriman, Barry, Yu, Timothy W, Flannery, Katherine C, DeChene, Elizabeth T, Towne, Meghan C, Savage, Sarah K, Price, Emily N, Holm, Ingrid A, Luquette, Lovelace J, Lyon, Elaine, Majzoub, Joseph, Neupert, Peter, McCallie Jr, David, Szolovits, Peter, Willard, Huntington F, Mendelsohn, Nancy J, Temme, Renee, Finkel, Richard S, Yum, Sabrina W, Medne, Livija, Sunyaev, Shamil R, Adzhubey, Ivan, Cassa, Christopher A, de Bakker, Paul IW, Duzkale, Hatice, Dworzyński, Piotr, Fairbrother, William, Francioli, Laurent, Funke, Birgit H, Giovanni, Monica A, Handsaker, Robert E, Lage, Kasper, Lebo, Matthew S, Lek, Monkol, Leshchiner, Ignaty, MacArthur, Daniel G, McLaughlin, Heather M, Murray, Michael F, Pers, Tune H, Polak, Paz P, Raychaudhuri, Soumya, Rehm, Heidi L, Soemedi, Rachel, Stitziel, Nathan O, Vestecka, Sara, Supper, Jochen, Gugenmus, Claudia, Klocke, Bernward, Hahn, Alexander, Schubach, Max, Menzel, Mortiz, Biskup, Saskia, Freisinger, Peter, Deng, Mario, Braun, Martin, Perner, Sven, Smith, Richard JH, Andorf, Janeen L, Huang, Jian, Ryckman, Kelli, Sheffield, Val C, Stone, Edwin M, Bair, Thomas, Black-Ziegelbein, E Ann, Braun, Terry A, Darbro, Benjamin, DeLuca, Adam P, Kolbe, Diana L, Scheetz, Todd E, Shearer, Aiden E, Sompallae, Rama, Wang, Kai, Bassuk, Alexander G, Edens, Erik, Mathews, Katherine, Moore, Steven A, Shchelochkov, Oleg A, Trapane, Pamela, Bossler, Aaron, Campbell, Colleen A, Heusel, Jonathan W, Kwitek, Anne, Maga, Tara, Panzer, Karin, Wassink, Thomas, Van Daele, Douglas, Azaiez, Hela, Booth, Kevin, Meyer, Nic, Segal, Michael M, Williams, Marc S, Tromp, Gerard, White, Peter, Corsmeier, Donald, Fitzgerald-Butt, Sara, Herman, Gail, Lamb-Thrush, Devon, McBride, Kim L, Newsom, David, Pierson, Christopher R, Rakowsky, Alexander T, Maver, Aleš, Lovrečić, Luca, Palandačić, Anja, Peterlin, Borut, Torkamani, Ali, Wedell, Anna, Huss, Mikael, Alexeyenko, Andrey, Lindvall, Jessica M, Magnusson, Måns, Nilsson, Daniel, Stranneheim, Henrik, Taylan, Fulya, Gilissen, Christian, Hoischen, Alexander, van Bon, Bregje, Yntema, Helger, Nelen, Marcel, Zhang, Weidong, Sager, Jason, Zhang, Lu, Blair, Kathryn, Kural, Deniz, Cariaso, Michael, Lennon, Greg G, Javed, Asif, Agrawal, Saloni, Ng, Pauline C, Sandhu, Komal S, Krishna, Shuba, Veeramachaneni, Vamsi, Isakov, Ofer, Halperin, Eran, Friedman, Eitan, Shomron, Noam, Glusman, Gustavo, Roach, Jared C, Caballero, Juan, Cox, Hannah C, Mauldin, Denise, Ament, Seth A, Rowen, Lee, Richards, Daniel R, Lucas, F Anthony San, Gonzalez-Garay, Manuel L, Caskey, C Thomas, Bai, Yu, Huang, Ying, Fang, Fang, Zhang, Yan, Wang, Zhengyuan, Barrera, Jorge, Garcia-Lobo, Juan M, González-Lamuño, Domingo, Llorca, Javier, Rodriguez, Maria C, Varela, Ignacio, Reese, Martin G, De La Vega, Francisco M, Kiruluta, Edward, Cargill, Michele, Hart, Reece K, Sorenson, Jon M, Lyon, Gholson J, Stevenson, David A, Bray, Bruce E, Moore, Barry M, Eilbeck, Karen, Yandell, Mark, Zhao, Hongyu, Hou, Lin, Chen, Xiaowei, Yan, Xiting, Chen, Mengjie, Li, Cong, Yang, Can, Gunel, Murat, Li, Peining, Kong, Yong, Alexander, Austin C, Albertyn, Zayed I, Boycott, Kym M, Bulman, Dennis E, Gordon, Paul MK, Innes, A Micheil, Knoppers, Bartha M, Majewski, Jacek, Marshall, Christian R, Parboosingh, Jillian S, Sawyer, Sarah L, Samuels, Mark E, Schwartzentruber, Jeremy, Kohane, Isaac S, Margulies, David M
Published 2014