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Author Details

Loren D M Pena
Duke University Medical Center
2001
48
24
PMIDPaper TitleJournal TitlePublished Year
37031408Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).Genet Med2023
34420548Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort.Cardiol Young2022
35618441Long-term Safety and Efficacy of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease.Neurology2022
36214004Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort.J Neuromuscul Dis2022
35937981Clinically available testing options resulting in diagnosis in post-exome clinic at one medical center.Front Genet2022
35044823Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling.Sci Adv2022
35248119Characterization of a rare mosaic unbalanced translocation of t(3;12) in a patient with neurodevelopmental disorders.Mol Cytogenet2022
33759348A rare case of postnatal mosaic trisomy 12 with severe congenital heart disease and literature review.Am J Med Genet A2021
33743238Onasemnogene 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.Lancet Neurol2021
32047287Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.Genet Med2020
30679821Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.Genet Med2019
29907797A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative.Genet Med2019
31448412The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease.Clin Genet2019
30770310Safety, 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.Neuromuscul Disord2019
31086307Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease.Genet Med2019
28914269Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.Genet Med2018
30193138IRF2BPL Is Associated with Neurological Phenotypes.Am J Hum Genet2018
30134969Characteristics of undiagnosed diseases network applicants: implications for referring providers.BMC Health Serv Res2018
29970384Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features.Cold Spring Harb Mol Case Stud2018
30057031IRF2BPL Is Associated with Neurological Phenotypes.Am J Hum Genet2018
30420557Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.EMBO J2018
29726930Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.Hum Mol Genet2018
29565424Efficacy, 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.Genet Med2018
29297108Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing?J Genet Couns2018
28061364De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.Am J Hum Genet2017
28416019A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network.Orphanet J Rare Dis2017
27776753Comparison 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.J Pediatr2017
26868367Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders.J Genet Couns2016
27693232De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.Am J Hum Genet2016
27473031Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study.Mol Genet Metab2016
27209629Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database.Mol Genet Metab2016
25763511Postmortem Findings and Clinical Correlates in Individuals with Infantile-Onset Pompe Disease.JIMD Rep2015
27858658A Phase 4 Prospective Study in Patients with Adult Pompe Disease Treated with Alglucosidase Alfa.J Neuromuscul Dis2015
25687635Premature pubarche in children with Pompe disease.J Pediatr2015
24782230Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.Am J Med Genet A2014
27896101Late onset Leigh syndrome mimicking central nervous system vasculitis.Mol Genet Metab Rep2014
21963082Chronic management and health supervision of individuals with propionic acidemia.Mol Genet Metab2012
22678880Survey of health status and complications among propionic acidemia patients.Am J Med Genet A2012
22241096Follow-up of patients with short-chain acyl-CoA dehydrogenase and isobutyryl-CoA dehydrogenase deficiencies identified through newborn screening: one center's experience.Genet Med2012
22000903Acute management of propionic acidemia.Mol Genet Metab2012
22078457Neurologic considerations in propionic acidemia.Mol Genet Metab2012
21986446Natural history of propionic acidemia.Mol Genet Metab2012
21271664Fanconi-Bickel syndrome: report of life history and successful pregnancy in an affected patient.Am J Med Genet A2011
20356742Episodic myoglobinuria in a primary gamma-sarcoglycanopathy.Neuromuscul Disord2010
23926373Recurrent Anion Gap Acidosis: An Unusual Presentation of X-Linked Adrenoleukodystrophy in a Five-year-old Male.Clin Pediatr Endocrinol2010
18626099Two Children with macrocephaly, developmental delay, and PTEN mutation.Clin Pediatr (Phila)2009
12163606Long-term effect of interferon on keratinocytes that maintain human papillomavirus type 31.J Virol2002
11559836Differentiation-dependent chromatin rearrangement coincides with activation of human papillomavirus type 31 late gene expression.J Virol2001
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Collaborators

Duke University School of Medicine
Co-authored papers 14
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Co-authored papers 12
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Co-authored papers 11
Yale University School of Medicine
Co-authored papers 8
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Co-authored papers 8
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Co-authored papers 6
University of North Carolina-Chapel Hill
Co-authored papers 5
Baylor College of Medicine
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GenOmics and Translational Research Center
Co-authored papers 5
Duke University School of Medicine
Co-authored papers 4
Translational and clinical research, Newcastle University Faculty of Medical Sciences
Co-authored papers 4
university of california los angeles
Co-authored papers 4
Baylor College of Medicine, TX Jan and Dan Duncan Neurological Research Institute
Co-authored papers 4
Imperial College London
Co-authored papers 4
Baylor College of Medicine
Co-authored papers 4
Baylor College of Medicine
Co-authored papers 3
Baylor College of Medicine
Co-authored papers 3
Duke University Medical Center
Co-authored papers 2
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The University of Texas McGovern Medical School
Co-authored papers 2
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University of Minnesota
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Seattle Children's Hospital.
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Center for Experimental Neurotherapeutics, St. Jude Children's Research Hospital
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