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 Cara N Cacioppo, Ariel E Chandler, Meghan C Towne, Alan H Beggs, Ingrid A Holm
Published 2016-01-01

The role of sodium channels in sudden unexpected death in pediatrics

by Anne M. Rochtus, Richard D. Goldstein, Ingrid A. Holm, Catherine A. Brownstein, Eduardo Pérez‐Palma, Robin Haynes, Dennis Lal, Annapurna H. Poduri
Published 2020-08-01

Preferences for Updates on General Research Results: A Survey of Participants in Genomic Research from Two Institutions

by Casey Overby Taylor, Natalie Flaks Manov, Katherine D. Crew, Chunhua Weng, John J. Connolly, Christopher G. Chute, Daniel E. Ford, Harold Lehmann, Alanna Kulchak Rahm, Iftikhar J. Kullo, Pedro J. Caraballo, Ingrid A. Holm, Debra Mathews
Published 2021-05-01

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

by Cassandra C. Brady, Vidhu V. Thaker, Todd Lingren, Jessica G. Woo, Stephanie S. Kennebeck, Bahram Namjou-Khales, Ashton Roach, Jonathan P. Bickel, Nandan Patibandla, Guergana K. Savova, Imre Solti, Ingrid A. Holm, John B. Harley, Isaac S. Kohane, Nancy A. Crimmins
Published 2016-01-01

A GWAS Study on Liver Function Test Using eMERGE Network Participants.

by Bahram Namjou, Keith Marsolo, Todd Lingren, Marylyn D Ritchie, Shefali S Verma, Beth L Cobb, Cassandra Perry, Terrie E Kitchner, Murray H Brilliant, Peggy L Peissig, Kenneth M Borthwick, Marc S Williams, Jane Grafton, Gail P Jarvik, Ingrid A Holm, John B Harley
Published 2015-01-01

Harmonizing Outcomes for Genomic Medicine: Comparison of eMERGE Outcomes to ClinGen Outcome/Intervention Pairs

by Janet L. Williams, Wendy K. Chung, Alex Fedotov, Krzysztof Kiryluk, Chunhua Weng, John J. Connolly, Margaret Harr, Hakon Hakonarson, Kathleen A. Leppig, Eric B. Larson, Gail P. Jarvik, David L. Veenstra, Christin Hoell, Maureen E. Smith, Ingrid A. Holm, Josh F. Peterson, Marc S. Williams
Published 2018-07-01

Nicotinic Receptors in the Brainstem Ascending Arousal System in SIDS With Analysis of Pre-natal Exposures to Maternal Smoking and Alcohol in High-Risk Populations of the Safe Pass...

by Arunnjah Vivekanandarajah, Morgan E. Nelson, Morgan E. Nelson, Hannah C. Kinney, Amy J. Elliott, Amy J. Elliott, Rebecca D. Folkerth, Rebecca D. Folkerth, Hoa Tran, Jacob Cotton, Perri Jacobs, Megan Minter, Kristin McMillan, Jhodie R. Duncan, Kevin G. Broadbelt, Kathryn Schissler, Hein J. Odendaal, Jyoti Angal, Jyoti Angal, Lucy Brink, Elsie H. Burger, Jean A. Coldrey, Johan Dempers, Theonia K. Boyd, William P. Fifer, Elaine Geldenhuys, Coen Groenewald, Ingrid A. Holm, Ingrid A. Holm, Michael M. Myers, Bradley Randall, Pawel Schubert, Mary Ann Sens, Colleen A. Wright, Colleen A. Wright, Drucilla J. Roberts, Laura Nelsen, Shabbir Wadee, Dan Zaharie, Robin L. Haynes, PASS Network
Published 2021-03-01

Characteristics and predictive value of blood transcriptome signature in males with autism spectrum disorders.

by Sek Won Kong, Christin D Collins, Yuko Shimizu-Motohashi, Ingrid A Holm, Malcolm G Campbell, In-Hee Lee, Stephanie J Brewster, Ellen Hanson, Heather K Harris, Kathryn R Lowe, Adrianna Saada, Andrea Mora, Kimberly Madison, Rachel Hundley, Jessica Egan, Jillian McCarthy, Ally Eran, Michal Galdzicki, Leonard Rappaport, Louis M Kunkel, Isaac S Kohane
Published 2012-01-01

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

by Todd Lingren, Pei Chen, Joseph Bochenek, Finale Doshi-Velez, Patty Manning-Courtney, Julie Bickel, Leah Wildenger Welchons, Judy Reinhold, Nicole Bing, Yizhao Ni, William Barbaresi, Frank Mentch, Melissa Basford, Joshua Denny, Lyam Vazquez, Cassandra Perry, Bahram Namjou, Haijun Qiu, John Connolly, Debra Abrams, Ingrid A Holm, Beth A Cobb, Nataline Lingren, Imre Solti, Hakon Hakonarson, Isaac S Kohane, John Harley, Guergana Savova
Published 2016-01-01

The BabySeq project: implementing genomic sequencing in newborns

by Ingrid A. Holm, Pankaj B. Agrawal, Ozge Ceyhan-Birsoy, Kurt D. Christensen, Shawn Fayer, Leslie A. Frankel, Casie A. Genetti, Joel B. Krier, Rebecca C. LaMay, Harvey L. Levy, Amy L. McGuire, Richard B. Parad, Peter J. Park, Stacey Pereira, Heidi L. Rehm, Talia S. Schwartz, Susan E. Waisbren, Timothy W. Yu, The BabySeq Project Team, Robert C. Green, Alan H. Beggs
Published 2018-07-01

EMR-linked GWAS study: Investigation of variation landscape of loci for Body Mass Index in children

by Bahram eNamjou, Mehdi eKeddache, Mehdi eKeddache, keith emarsolo, keith emarsolo, michael ewagner, michael ewagner, todd elingren, todd elingren, Beth eCobb, cassandra eperry, stephanie ekennebeck, stephanie ekennebeck, Ingrid A Holm, Rongling eLi, Nancy A Crimmins, Nancy A Crimmins, Lisa eMartin, Lisa eMartin, Imre eSolti, Imre eSolti, Isaac eKohane, John B Harley, John B Harley, John B Harley, John B Harley
Published 2013-12-01

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

by Maureen E. Smith, Saskia C. Sanderson, Kyle B. Brothers, Melanie F. Myers, Jennifer McCormick, Sharon Aufox, Martha J. Shrubsole, Nanibaá A. Garrison, Nathaniel D. Mercaldo, Jonathan S. Schildcrout, Ellen Wright Clayton, Armand H. Matheny Antommaria, Melissa Basford, Murray Brilliant, John J. Connolly, Stephanie M. Fullerton, Carol R. Horowitz, Gail P. Jarvik, Dave Kaufman, Terri Kitchner, Rongling Li, Evette J. Ludman, Catherine McCarty, Valerie McManus, Sarah Stallings, Janet L. Williams, Ingrid A. Holm
Published 2016-11-01

Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.

by Margot E Bowen, Eric D Boyden, Ingrid A Holm, Belinda Campos-Xavier, Luisa Bonafé, Andrea Superti-Furga, Shiro Ikegawa, Valerie Cormier-Daire, Judith V Bovée, Twinkal C Pansuriya, Sérgio B de Sousa, Ravi Savarirayan, Elena Andreucci, Miikka Vikkula, Livia Garavelli, Caroline Pottinger, Toshihiko Ogino, Akinori Sakai, Bianca M Regazzoni, Wim Wuyts, Luca Sangiorgi, Elena Pedrini, Mei Zhu, Harry P Kozakewich, James R Kasser, Jon G Seidman, Kyle C Kurek, Matthew L Warman
Published 2011-04-01

Concurrent prenatal drinking and smoking increases risk for SIDS: Safe Passage Study report

by Amy J. Elliott, Hannah C. Kinney, Robin L. Haynes, Johan D. Dempers, Colleen Wright, William P. Fifer, Jyoti Angal, Theonia K. Boyd, Larry Burd, Elsie Burger, Rebecca D. Folkerth, Coen Groenewald, Gary Hankins, Dale Hereld, Howard J. Hoffman, Ingrid A. Holm, Michael M. Myers, Laura L. Nelsen, Hein J. Odendaal, Julie Petersen, Bradley B. Randall, Drucilla J. Roberts, Fay Robinson, Pawel Schubert, Mary Ann Sens, Lisa M. Sullivan, Tara Tripp, Peter Van Eerden, Shabbir Wadee, Marian Willinger, Daniel Zaharie, Kimberly A. Dukes
Published 2020-02-01

Understanding the Return of Genomic Sequencing Results Process: Content Review of Participant Summary Letters in the eMERGE Research Network

by John A. Lynch, Richard R. Sharp, Sharon A. Aufox, Sarah T. Bland, Carrie Blout, Deborah J. Bowen, Adam H. Buchanan, Colin Halverson, Margaret Harr, Scott J. Hebbring, Nora Henrikson, Christin Hoell, Ingrid A. Holm, Gail Jarvik, Iftikhar J. Kullo, David C. Kochan, Eric B. Larson, Amanda Lazzeri, Kathleen A. Leppig, Jill Madden, Maddalena Marasa, Melanie F. Myers, Josh Peterson, Cynthia A. Prows, Alanna Kulchak Rahm, James Ralston, Hila Milo Rasouly, Aaron Scrol, Maureen E. Smith, Amy Sturm, Kelsey Stuttgen, Georgia Wiesner, Marc S. Williams, Julia Wynn, Janet L. Williams
Published 2020-05-01

Returning Results in the Genomic Era: Initial Experiences of the eMERGE Network

by Georgia L. Wiesner, Alanna Kulchak Rahm, Paul Appelbaum, Sharon Aufox, Sarah T. Bland, Carrie L. Blout, Kurt D. Christensen, Wendy K. Chung, Ellen Wright Clayton, Robert C. Green, Margaret H. Harr, Nora Henrikson, Christin Hoell, Ingrid A. Holm, Gail P. Jarvik, Iftikhar J. Kullo, Philip E. Lammers, Eric B. Larson, Noralane M. Lindor, Maddalena Marasa, Melanie F. Myers, Josh F. Peterson, Cynthia A. Prows, James D. Ralston, Hila Milo Rasouly, Richard R. Sharp, Maureen E. Smith, Sara L. Van Driest, Janet L. Williams, Marc S. Williams, Julia Wynn, Kathleen A. Leppig
Published 2020-04-01

Effects of Prenatal Exposure to Alcohol and Smoking on Fetal Heart Rate and Movement Regulation

by Maristella Lucchini, Maristella Lucchini, Lauren C. Shuffrey, Lauren C. Shuffrey, J. David Nugent, J. David Nugent, Nicoló Pini, Nicoló Pini, Ayesha Sania, Margaret Shair, Lucy Brink, Carlie du Plessis, Hein J. Odendaal, Morgan E. Nelson, Morgan E. Nelson, Christa Friedrich, Christa Friedrich, Jyoti Angal, Jyoti Angal, Amy J. Elliott, Amy J. Elliott, Coen A. Groenewald, Larry T. Burd, Michael M. Myers, Michael M. Myers, Michael M. Myers, William P. Fifer, William P. Fifer, William P. Fifer, Gary DV Hankins, Kimberly A Dukes, Lisa M Sullivan, Tara Tripp, Fay Robinson, Cheri Raffo, Julie M Petersen, Rebecca A Young, Cindy Mai, Elena Grillo, Travis Baker, Gregory Toland, Michael Carmen, Hannah C Kinney, Robin L Haynes, Rebecca D Folkerth, Ingrid A Holm, Theonia Boyd, David S Paterson, Hanno Steen, Kyriacos Markianos, Drucilla Roberts, Kevin G Broadbelt, Richard G Goldstein, Laura L. Nelsen, Jacob Cotton, Perri Jacobs, Amy J Elliott, Larr Burd, Jyoti Angal, Jessica Gromer, H Eugene Hoyme, Margaret Jackson, Luke Mack, Bradley B Randall, Mary Ann Sens, Deborah Tobacco, Peter Van Eerden, Hendrik Odendaal, Colleen Wright, Lut Geerts, Greetje de Jong, Pawel Schubert, Shabbir Wadee, Johan Dempers, Elsie Burger, Janetta Harbron, Coen Groenewald, William Fifer, Michael Myers, Joseph Isler, Yvonne Sininger, J David Nugent, Carmen Condon, Margaret C Shair, Tracy Thai, Marian Willinger, Dale Hereld, Howard J Hoffman, Chuan-Ming Li
Published 2021-07-01