Search Results - "Holm, Ingrid A."

Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents by Botkin, Jeffrey R., Belmont, John W., Berg, Jonathan S., Berkman, Benjamin E., Bombard, Yvonne, Holm, Ingrid A., Levy, Howard P., Ormond, Kelly E., Saal, Howard M., Spinner, Nancy B., Wilfond, Benjamin S., McInerney, Joseph D.

“…In 1995, the American Society of Human Genetics (ASHG) and American College of Medical Genetics and Genomics (ACMG) jointly published a statement on genetic…”
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Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project by Ceyhan-Birsoy, Ozge, Murry, Jaclyn B., Machini, Kalotina, Lebo, Matthew S., Yu, Timothy W., Fayer, Shawn, Genetti, Casie A., Schwartz, Talia S., Agrawal, Pankaj B., Parad, Richard B., Holm, Ingrid A., McGuire, Amy L., Green, Robert C., Rehm, Heidi L., Beggs, Alan H., Agrawal, Pankaj B., Beggs, Alan H., Betting, Wendi N., Ceyhan-Birsoy, Ozge, Christensen, Kurt D., Dukhovny, Dmitry, Fayer, Shawn, Frankel, Leslie A., Genetti, Casie A., Graham, Chet, Green, Robert C., Guiterrez, Amanda M., Harden, Maegan, Holm, Ingrid A., Krier, Joel B., Lebo, Matthew S., Levy, Harvey L., Lu, Xingquan, Machini, Kalotina, McGuire, Amy L., Murry, Jaclyn B., Naik, Medha, Nguyen, Tiffany T., Parad, Richard B., Peoples, Hayley A., Pereira, Stacey, Petersen, Devan, Ramamurthy, Uma, Ramanathan, Vivek, Rehm, Heidi L., Roberts, Amy, Robinson, Jill O., Roumiantsev, Serguei, Schwartz, Talia S., Truong, Tina K., VanNoy, Grace E., Waisbren, Susan E., Yu, Timothy W.

“…Genomic sequencing provides many opportunities in newborn clinical care, but the challenges of interpreting and reporting newborn genomic sequencing (nGS)…”
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A clinician's guide to X‐linked hypophosphatemia by Carpenter, Thomas O, Imel, Erik A, Holm, Ingrid A, Jan de Beur, Suzanne M, Insogna, Karl L

“…X‐linked hypophosphatemia (XLH) is the prototypic disorder of renal phosphate wasting, and the most common form of heritable rickets. Physicians, patients, and…”
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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.

“…In 2011, an Advanced Notice of Proposed Rulemaking proposed that de-identified human data and specimens be included in biobanks only if patients provide…”
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Public Attitudes toward Consent and Data Sharing in Biobank Research: A Large Multi-site Experimental Survey in the US by Sanderson, Saskia C., Brothers, Kyle B., Mercaldo, Nathaniel D., Clayton, Ellen Wright, Antommaria, Armand H. Matheny, Aufox, Sharon A., Brilliant, Murray H., Campos, Diego, Carrell, David S., Connolly, John, Conway, Pat, Fullerton, Stephanie M., Garrison, Nanibaa’ A., Horowitz, Carol R., Jarvik, Gail P., Kaufman, David, Kitchner, Terrie E., Li, Rongling, Ludman, Evette J., McCarty, Catherine A., McCormick, Jennifer B., McManus, Valerie D., Myers, Melanie F., Scrol, Aaron, Williams, Janet L., Shrubsole, Martha J., Schildcrout, Jonathan S., Smith, Maureen E., Holm, Ingrid A.

“…Individuals participating in biobanks and other large research projects are increasingly asked to provide broad consent for open-ended research use and…”
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Extracting Einstein from the loop-level double-copy by Carrasco, John Joseph M., Vazquez-Holm, Ingrid A.

“…A bstract The naive double-copy of (multi) loop amplitudes involving massive matter coupled to gauge theories will generically produce amplitudes in a…”
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Radiation and reaction at one loop by Elkhidir, Asaad, O’Connell, Donal, Sergola, Matteo, Vazquez-Holm, Ingrid A.

“…A bstract We study classical radiation fields at next-to-leading order using the methods of scattering amplitudes. The fields of interest to us are sourced…”
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A curated gene list for reporting results of newborn genomic sequencing by Ceyhan-Birsoy, Ozge, Machini, Kalotina, Lebo, Matthew S., Yu, Tim W., Agrawal, Pankaj B., Parad, Richard B., Holm, Ingrid A., McGuire, Amy, Green, Robert C., Beggs, Alan H., Rehm, Heidi L.

“…Purpose: Genomic sequencing (GS) for newborns may enable detection of conditions for which early knowledge can improve health outcomes. One of the major…”
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Safety, pharmacokinetics, and preliminary assessment of efficacy of mecasermin (recombinant human IGF-1) for the treatment of Rett syndrome by Khwaja, Omar S., Ho, Eugenia, Barnes, Katherine V., O'Leary, Heather M., Pereira, Luis M., Finkelstein, Yaron, Nelson, Charles A., Vogel-Farley, Vanessa, DeGregorio, Geneva, Holm, Ingrid A., Khatwa, Umakanth, Kapur, Kush, Alexander, Mark E., Finnegan, Deirdre M., Cantwell, Nicole G., Walco, Alexandra C., Rappaport, Leonard, Gregas, Matt, Fichorova, Raina N., Shannon, Michael W., Sur, Mriganka, Kaufmann, Walter E.

“…Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder mainly affecting females and is associated with mutations in MECP2, the gene encoding…”
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The BabySeq project: implementing genomic sequencing in newborns by Holm, Ingrid A, Agrawal, Pankaj B, Ceyhan-Birsoy, Ozge, Christensen, Kurt D, Fayer, Shawn, Frankel, Leslie A, Genetti, Casie A, Krier, Joel B, LaMay, Rebecca C, Levy, Harvey L, McGuire, Amy L, Parad, Richard B, Park, Peter J, Pereira, Stacey, Rehm, Heidi L, Schwartz, Talia S, Waisbren, Susan E, Yu, Timothy W, Green, Robert C, Beggs, Alan H

“…The greatest opportunity for lifelong impact of genomic sequencing is during the newborn period. The "BabySeq Project" is a randomized trial that explores the…”
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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

“…Autism Spectrum Disorders (ASD) is a spectrum of highly heritable neurodevelopmental disorders in which known mutations contribute to disease risk in 20% of…”
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Genetic predictors of blood pressure traits are associated with preeclampsia by Jasper, Elizabeth A., Hellwege, Jacklyn N., Breeyear, Joseph H., Xiao, Brenda, Jarvik, Gail P., Stanaway, Ian B., Leppig, Kathleen A., Chittoor, Geetha, Hayes, M. Geoffrey, Dikilitas, Ozan, Kullo, Iftikhar J., Holm, Ingrid A., Verma, Shefali Setia, Edwards, Todd L., Velez Edwards, Digna R.

“…Preeclampsia, a pregnancy complication characterized by hypertension after 20 gestational weeks, is a major cause of maternal and neonatal morbidity and…”
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Participant choices for return of genomic results in the eMERGE Network by Hoell, Christin, Wynn, Julia, Rasmussen, Luke V., Marsolo, Keith, Aufox, Sharon A., Chung, Wendy K., Connolly, John J., Freimuth, Robert R., Kochan, David, Hakonarson, Hakon, Harr, Margaret, Holm, Ingrid A., Kullo, Iftikhar J., Lammers, Philip E., Leppig, Kathleen A., Leslie, Nancy D., Myers, Melanie F., Sharp, Richard R., Smith, Maureen E., Prows, Cynthia A.

“…Purpose Secondary findings are typically offered in an all or none fashion when sequencing is used for clinical purposes. This study aims to describe the…”
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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

“…Cohort selection is challenging for large-scale electronic health record (EHR) analyses, as International Classification of Diseases 9th edition (ICD-9)…”
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Parental Attitudes Toward Standard Newborn Screening and Newborn Genomic Sequencing: Findings From the BabySeq Study by Armstrong, Brittan, Christensen, Kurt D, Genetti, Casie A, Parad, Richard B, Robinson, Jill Oliver, Blout Zawatsky, Carrie L, Zettler, Bethany, Beggs, Alan H, Holm, Ingrid A, Green, Robert C, McGuire, Amy L, Smith, Hadley Stevens, Pereira, Stacey

“…With increasing utility and decreasing cost of genomic sequencing, augmentation of standard newborn screening (NBS) programs with newborn genomic sequencing…”
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Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia by Krakow, Deborah, Vriens, Joris, Camacho, Natalia, Luong, Phi, Deixler, Hannah, Funari, Tara L., Bacino, Carlos A., Irons, Mira B., Holm, Ingrid A., Sadler, Laurie, Okenfuss, Ericka B., Janssens, Annelies, Voets, Thomas, Rimoin, David L., Lachman, Ralph S., Nilius, Bernd, Cohn, Daniel H.

“…The spondylometaphyseal dysplasias (SMDs) are a group of short-stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the…”
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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

“…Adults with β thalassemia major frequently have low BMD, fractures, and bone pain. The purpose of this study was to determine the prevalence of low BMD,…”
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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 by Cacioppo, Cara N, Chandler, Ariel E, Towne, Meghan C, Beggs, Alan H, Holm, Ingrid A

“…Much information on parental perspectives on the return of individual research results (IRR) in pediatric genomic research is based on hypothetical rather than…”
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Guidelines for return of research results from pediatric genomic studies: deliberations of the Boston Children’s Hospital Gene Partnership Informed Cohort Oversight Board by Holm, Ingrid A., Savage, Sarah K., Green, Robert C., Juengst, Eric, McGuire, Amy, Kornetsky, Susan, Brewster, Stephanie J., Joffe, Steven, Taylor, Patrick

“…Purpose: Approaches to return individual results to participants in genomic research variably focus on actionability, duty to share, or participants’…”
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Xsec: the cross-section evaluation code by Buckley, Andy, Kvellestad, Anders, Raklev, Are, Scott, Pat, Sparre, Jon Vegard, Van den Abeele, Jeriek, Vazquez-Holm, Ingrid A.

“…The evaluation of higher-order cross-sections is an important component in the search for new physics, both at hadron colliders and elsewhere. For most new…”
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