Browsing by Author "Holm, Ingrid"

Now showing items 1-14 of 14

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

      Kong, Sek Won; Collins, Christin D.; Shimizu-Motohashi, Yuko; Holm, Ingrid A.; Campbell, Malcolm G.; Lee, In-Hee; Brewster, Stephanie J.; Hanson, Ellen M.; Harris, Heather; 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. (Public Library of Science, 2012)
      Autism Spectrum Disorders (ASD) is a spectrum of highly heritable neurodevelopmental disorders in which known mutations contribute to disease risk in 20% of cases. Here, we report the results of the largest blood transcriptome ...

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

      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. (BioMed Central, 2016)
      Background: As biobanks play an increasing role in the genomic research that will lead to precision medicine, input from diverse and large populations of patients in a variety of health care settings will be important in ...

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

      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 (Public Library of Science, 2016)
      Objective: Cohort selection is challenging for large-scale electronic health record (EHR) analyses, as International Classification of Diseases 9th edition (ICD-9) diagnostic codes are notoriously unreliable disease ...

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

      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. (Frontiers Media S.A., 2013)
      Common variations at the loci harboring the fat mass and obesity gene (FTO), MC4R, and TMEM18 are consistently reported as being associated with obesity and body mass index (BMI) especially in adult population. In order ...

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

      Cacioppo, Cara N.; Chandler, Ariel E.; Towne, Meghan C.; Beggs, Alan H.; Holm, Ingrid A. (Public Library of Science, 2016)
      Purpose Much information on parental perspectives on the return of individual research results (IRR) in pediatric genomic research is based on hypothetical rather than actual IRR. Our aim was to understand how the expected ...

    • Family Health History Reporting is Sensitive to Small Changes in Wording 

      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. (2016)
      Purpose Family health history is often collected through single-item queries that ask patients whether or not their family members are affected by certain conditions. The specific wording of these queries may affect what ...

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

      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. (Public Library of Science, 2015)
      Introduction: Liver enzyme levels and total serum bilirubin are under genetic control and in recent years genome-wide population-based association studies have identified different susceptibility loci for these traits. We ...

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

      Waisbren, Susan E.; Bäck, Danielle K.; Liu, Christina; Kalia, Sarah S.; Ringer, Steven A.; Holm, Ingrid A.; Green, Robert C. (2014)
      Purpose We surveyed parents to ascertain interest in newborn genomic testing and determine whether these queries would provoke refusal of conventional newborn screening (NBS). Methods: After brief genetics orientation, ...

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

      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 (BioMed Central, 2014)
      Background: There is tremendous potential for genome sequencing to improve clinical diagnosis and care once it becomes routinely accessible, but this will require formalizing research methods into clinical best practices ...

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

      Campos-Xavier, Belinda; Superti-Furga, Andrea; Ikegawa, Shiro; Cormier-Daire, Valerie; Pansuriya, Twinkal C.; Savarirayan, Ravi; Andreucci, Elena; Vikkula, Miikka; Garavelli, Livia; Pottinger, Caroline; Ogino, Toshihiko; Sakai, Akinori; Regazzoni, Bianca M.; Wuyts, Wim; Sangiorgi, Luca; Pedrini, Elena; Bowen, Margot E.; Kurek, Kyle Christopher; Boyden, Eric David; Holm, Ingrid Adele; Bonafé, Luisa; Bovée, Judith V.; de Sousa, Sérgio b.; Zhu, Meijun; Kozakewich, Harry Peter Wolodymir; Kasser, James R.; Seidman, Jonathan G.; Warman, Matthew L. (Public Library of Science, 2011)
      Metachondromatosis (MC) is a rare, autosomal dominant, incompletely penetrant combined exostosis and enchondromatosis tumor syndrome. MC is clinically distinct from other multiple exostosis or multiple enchondromatosis ...

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

      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. (Frontiers Media S.A., 2014)
      Objective: We report the first pediatric specific Phenome-Wide Association Study (PheWAS) using electronic medical records (EMRs). Given the early success of PheWAS in adult populations, we investigated the feasibility of ...

    • Safety, pharmacokinetics, and preliminary assessment of efficacy of mecasermin (recombinant human IGF-1) for the treatment of Rett syndrome 

      Khwaja, O. S.; Ho, E.; Barnes, K. V.; O, H. M.; Pereira, Luis Marcelo; Finkelstein, Y.; Nelson, Charles A.; Vogel-Farley, V.; DeGregorio, G.; Holm, Ingrid Adele; Khatwa, Umakanth A.; Kapur, Kush; Alexander, Mark Edward; Finnegan, D. M.; Cantwell, N. G.; Walco, A. C.; Rappaport, Leonard Allan; Gregas, M.; Fichorova, Raina Nakova; Shannon, M. W.; Sur, M.; Kaufmann, Walter E (Proceedings of the National Academy of Sciences, 2014)
      Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder mainly affecting females and is associated with mutations in MECP2, the gene encoding methyl CpG-binding protein 2. Mouse models suggest that recombinant ...

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

      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. (Hindawi Publishing Corporation, 2016)
      Background and Objectives. The prevalence of severe obesity in children has doubled in the past decade. The objective of this study is to identify the clinical documentation of obesity in young children with a BMI ≥ 99th ...

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

      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. (Nature Publishing Group, 2016)
      Purpose: In 2011, an Advanced Notice of Proposed Rulemaking proposed that de-identified human data and specimens be included in biobanks only if patients provide consent. The National Institutes of Health Genomic Data ...