Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders
Rosell, Allyn McConkie, Pena, Loren D. M., Schoch, Kelly, Spillmann, Rebecca, Sullivan, Jennifer, Hooper, Stephen R., Jiang, Yong-Hui, Mathey-Andrews, Nicolas, Goldstein, David B., Shashi, Vandana
Published in Journal of genetic counseling (01.10.2016)
Published in Journal of genetic counseling (01.10.2016)
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Journal Article
Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth
Harms, Frederike L, Rexach, Jessica Erin, Efthymiou, Stephanie, Aynekin, Busra, Per, Hüseyin, Güleç, Ayten, Nampoothiri, Sheela, Sampaio, Hugo, Sachdev, Rani, Stoeva, Radka, Myers, Kasiani, Pena, Loren D M, Kalfa, Theodosia A, Chard, Marisa, Klassen, Megan, Pries, Megan, Kutsche, Kerstin
Published in European journal of human genetics : EJHG (01.05.2024)
Published in European journal of human genetics : EJHG (01.05.2024)
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Journal Article
Clinically available testing options resulting in diagnosis in post-exome clinic at one medical center
Baker, Elizabeth K., Ulm, Elizabeth A., Belonis, Alyce, Brightman, Diana S., Hallinan, Barbara E., Leslie, Nancy D., Miethke, Alexander G., Vawter-Lee, Marissa, Wu, Yaning, Pena, Loren D. M.
Published in Frontiers in genetics (22.07.2022)
Published in Frontiers in genetics (22.07.2022)
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Journal Article
Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease
Kishnani, Priya S, Gibson, James B, Gambello, Michael J, Hillman, Richard, Stockton, David W, Kronn, David, Leslie, Nancy D, Pena, Loren D M, Tanpaiboon, Pranoot, Day, John W, Wang, Raymond Y, Goldstein, Jennifer L, An Haack, Kristina, Sparks, Susan E, Zhao, Yang, Hahn, Si Houn
Published in Genetics in medicine (01.11.2019)
Published in Genetics in medicine (01.11.2019)
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Journal Article
Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature
Johnstone, Devon L., Nguyen, Thi Tuyet Mai, Zambonin, Jessica, Kernohan, Kristin D., St‐Denis, Anik, Baratang, Nissan V., Hartley, Taila, Geraghty, Michael T., Richer, Julie, Majewski, Jacek, Bareke, Eric, Guerin, Andrea, Pendziwiat, Manuela, Pena, Loren D. M., Braakman, Hilde M. H., Gripp, Karen W., Edmondson, Andrew C., He, Miao, Spillmann, Rebecca C., Eklund, Erik A., Bayat, Allan, McMillan, Hugh J., Boycott, Kym M., Campeau, Philippe M.
Published in Journal of inherited metabolic disease (01.11.2020)
Published in Journal of inherited metabolic disease (01.11.2020)
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Journal Article
Characterization of a rare mosaic unbalanced translocation of t(3;12) in a patient with neurodevelopmental disorders
Hu, Xiaolin, Baker, Elizabeth K, Johnson, Jodie, Balow, Stephanie, Pena, Loren D M, Conlin, Laura K, Guan, Qiaoning, Smolarek, Teresa A
Published in Molecular cytogenetics (05.03.2022)
Published in Molecular cytogenetics (05.03.2022)
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Journal Article
Comparison of Methods of Initial Ascertainment in 58 Cases of Propionic Acidemia Enrolled in the Inborn Errors of Metabolism Information System Reveals Significant Differences in Time to Evaluation and Symptoms at Presentation
McCrory, Nicholas M., BA, Edick, Mathew J., PhD, Ahmad, Ayesha, MD, Lipinski, Susan, RD, Scott Schwoerer, Jessica A., MD, Zhai, Shaohui, PhD, Justice, Kaitlin, BS, Cameron, Cynthia A., PhD, Berry, Susan A., MD, Pena, Loren D.M., MD, PhD
Published in The Journal of pediatrics (01.01.2017)
Published in The Journal of pediatrics (01.01.2017)
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Journal Article
Premature Pubarche in Children with Pompe Disease
Tan, Queenie K.-G., MD, PhD, Stockton, David W., MD, Pivnick, Eniko, MD, Choudhri, Asim F., MD, Hines-Dowell, Stacy, DNP, APNG, Pena, Loren D.M., MD, PhD, Deimling, Melissa A., MD, Freemark, Michael S., MD, Kishnani, Priya S., MD
Published in The Journal of pediatrics (01.04.2015)
Published in The Journal of pediatrics (01.04.2015)
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Journal Article
Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naïve and alglucosidase alfa-treated patients with late-onset Pompe disease: A phase 1, open-label, multicenter, multinational, ascending dose study
Pena, Loren D.M., Barohn, Richard J., Byrne, Barry J., Desnuelle, Claude, Goker-Alpan, Ozlem, Ladha, Shafeeq, Laforêt, Pascal, Mengel, Karl Eugen, Pestronk, Alan, Pouget, Jean, Schoser, Benedikt, Straub, Volker, Trivedi, Jaya, Van Damme, Philip, Vissing, John, Young, Peter, Kacena, Katherine, Shafi, Raheel, Thurberg, Beth L., Culm-Merdek, Kerry, van der Ploeg, Ans T.
Published in Neuromuscular disorders : NMD (01.03.2019)
Published in Neuromuscular disorders : NMD (01.03.2019)
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Journal Article
Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder
Liu, Ning, Schoch, Kelly, Luo, Xi, Pena, Loren D M, Bhavana, Venkata Hemanjani, Kukolich, Mary K, Stringer, Sarah, Powis, Zöe, Radtke, Kelly, Mroske, Cameron, Deak, Kristen L, McDonald, Marie T, McConkie-Rosell, Allyn, Markert, M Louise, Kranz, Peter G, Stong, Nicholas, Need, Anna C, Bick, David, Amaral, Michelle D, Worthey, Elizabeth A, Levy, Shawn, Wangler, Michael F, Bellen, Hugo J, Shashi, Vandana, Yamamoto, Shinya
Published in Human molecular genetics (15.07.2018)
Published in Human molecular genetics (15.07.2018)
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Journal Article
Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database
Pena, Loren D.M., van Calcar, Sandra C., Hansen, Joyanna, Edick, Mathew J., Walsh Vockley, Cate, Leslie, Nancy, Cameron, Cynthia, Mohsen, Al-Walid, Berry, Susan A., Arnold, Georgianne L., Vockley, Jerry
Published in Molecular genetics and metabolism (01.08.2016)
Published in Molecular genetics and metabolism (01.08.2016)
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Journal Article
Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing?
McConkie-Rosell, Allyn, Hooper, Stephen R., Pena, Loren D. M., Schoch, Kelly, Spillmann, Rebecca C., Jiang, Yong-Hui, Cope, Heidi, Palmer, Christina, Shashi, Vandana
Published in Journal of genetic counseling (01.08.2018)
Published in Journal of genetic counseling (01.08.2018)
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Journal Article
Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study
Hahn, Si Houn, Kronn, David, Leslie, Nancy D, Pena, Loren D M, Tanpaiboon, Pranoot, Gambello, Michael J, Gibson, James B, Hillman, Richard, Stockton, David W, Day, John W, Wang, Raymond Y, An Haack, Kristina, Shafi, Raheel, Sparks, Susan, Zhao, Yang, Wilson, Catherine, Kishnani, Priya S
Published in Genetics in medicine (01.10.2018)
Published in Genetics in medicine (01.10.2018)
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Journal Article
Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study
van der Ploeg, Ans, Carlier, Pierre G., Carlier, Robert-Yves, Kissel, John T., Schoser, Benedikt, Wenninger, Stephan, Pestronk, Alan, Barohn, Richard J., Dimachkie, Mazen M., Goker-Alpan, Ozlem, Mozaffar, Tahseen, Pena, Loren D.M., Simmons, Zachary, Straub, Volker, Guglieri, Michela, Young, Peter, Boentert, Matthias, Baudin, Pierre-Yves, Wens, Stephan, Shafi, Raheel, Bjartmar, Carl, Thurberg, Beth L.
Published in Molecular genetics and metabolism (01.09.2016)
Published in Molecular genetics and metabolism (01.09.2016)
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Journal Article
Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine β‐synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trial
Van Hove, Johan L. K., Freehauf, Cynthia L., Ficicioglu, Can, Pena, Loren D. M., Moreau, Kerrie L., Henthorn, Thomas K., Christians, Uwe, Jiang, Hua, Cowan, Tina M., Young, Sarah P., Hite, Michelle, Friederich, Marisa W., Stabler, Sally P., Spector, Elaine B., Kronquist, Kathryn E., Thomas, Janet A., Emmett, Peggy, Harrington, Mary J., Pyle, Laura, Creadon‐Swindell, Geralyn, Wempe, Michael F., MacLean, Kenneth N.
Published in Journal of inherited metabolic disease (01.05.2019)
Published in Journal of inherited metabolic disease (01.05.2019)
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Journal Article
Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort
Byrne, Barry J., Colan, Steven D., Kishnani, Priya S., Foster, Meredith C., Sparks, Susan E., Gibson, James B., An Haack, Kristina, Stockton, David W., Peña, Loren D. M., Hahn, Si Houn, Johnson, Judith, Tanpaiboon, Pranoot X., Leslie, Nancy D., Kronn, David, Hillman, Richard E., Wang, Raymond Y.
Published in Cardiology in the young (01.03.2022)
Published in Cardiology in the young (01.03.2022)
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Journal Article
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype
Shashi, Vandana, Pena, Loren D.M., Kim, Katherine, Burton, Barbara, Hempel, Maja, Schoch, Kelly, Walkiewicz, Magdalena, McLaughlin, Heather M., Cho, Megan, Stong, Nicholas, Hickey, Scott E., Shuss, Christine M., Freemark, Michael S., Bellet, Jane S., Keels, Martha Ann, Bonner, Melanie J., El-Dairi, Maysantoine, Butler, Megan, Kranz, Peter G., Stumpel, Constance T.R.M., Klinkenberg, Sylvia, Oberndorff, Karin, Alawi, Malik, Santer, Rene, Petrovski, Slavé, Kuismin, Outi, Korpi-Heikkilä, Satu, Pietilainen, Olli, Aarno, Palotie, Kurki, Mitja I., Hoischen, Alexander, Need, Anna C., Goldstein, David B., Kortüm, Fanny
Published in American journal of human genetics (05.01.2017)
Published in American journal of human genetics (05.01.2017)
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Journal Article
Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features
Tan, Queenie K-G, Cope, Heidi, Spillmann, Rebecca C, Stong, Nicholas, Jiang, Yong-Hui, McDonald, Marie T, Rothman, Jennifer A, Butler, Megan W, Frush, Donald P, Lachman, Ralph S, Lee, Brendan, Bacino, Carlos A, Bonner, Melanie J, McCall, Chad M, Pendse, Avani A, Walley, Nicole, Shashi, Vandana, Pena, Loren D M
Published in Cold Spring Harbor molecular case studies (01.10.2018)
Published in Cold Spring Harbor molecular case studies (01.10.2018)
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Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial
Day, John W, Finkel, Richard S, Chiriboga, Claudia A, Connolly, Anne M, Crawford, Thomas O, Darras, Basil T, Iannaccone, Susan T, Kuntz, Nancy L, Peña, Loren D M, Shieh, Perry B, Smith, Edward C, Kwon, Jennifer M, Zaidman, Craig M, Schultz, Meredith, Feltner, Douglas E, Tauscher-Wisniewski, Sitra, Ouyang, Haojun, Chand, Deepa H, Sproule, Douglas M, Macek, Thomas A, Mendell, Jerry R
Published in Lancet neurology (01.04.2021)
Published in Lancet neurology (01.04.2021)
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Journal Article
Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort
Duong, Tina, Kishnani, Priya S, An Haack, Kristina, Foster, Meredith C, Gibson, James B, Wilson, Catherine, Hahn, Si Houn, Hillman, Richard, Kronn, David, Leslie, Nancy D, Peña, Loren D M, Sparks, Susan E, Stockton, David W, Tanpaiboon, Pranoot, Day, John W
Published in Journal of neuromuscular diseases (01.01.2022)
Published in Journal of neuromuscular diseases (01.01.2022)
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