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Laura Ann Adang

Septins Regulate Actin Organization and Cell-Cycle Arrest through Nuclear Accumulation of NCK Mediated by SOCS7
2007 · Brandon E. Kremer, Laura A. Adang, et al. · Cell · 222
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Janus Kinase Inhibition in the Aicardi–Goutières Syndrome
2020 · Adeline Vanderver, Laura Adang, et al. · New England Journal of Medicine · 203
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Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function
2020 · Gillian I. Rice, Sehoon Park, et al. · Human Mutation · 113
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The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS, SAVI and AGS
2022 · Kader Cetin Gedik, Lovro Lamot, et al. · Annals of the Rheumatic Diseases · 97
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Progressive Multifocal Leukoencephalopathy
2015 · Laura Adang, Joseph Berger · F1000Research · 96
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Rapamycin Blocks Production of KSHV/HHV8: Insights into the Anti-Tumor Activity of an Immunosuppressant Drug
2011 · Lisa A. Nichols, Laura A. Adang, et al. · PLoS ONE · 81
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MRI surveillance of boys with X‐linked adrenoleukodystrophy identified by newborn screening: Meta‐analysis and consensus guidelines
2020 · Eric J. Mallack, Bela R. Turk, et al. · Journal of Inherited Metabolic Disease · 79
Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies
2017 · Laura A. Adang, Omar Sherbini, et al. · Molecular Genetics and Metabolism · 73
Developmental Outcomes of Aicardi Goutières Syndrome
2019 · Laura Adang, Francesco Gavazzi, et al. · Journal of Child Neurology · 64
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Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification
2020 · Lars Schlotawa, Laura A. Adang, et al. · International Journal of Molecular Sciences · 54
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Aicardi goutières syndrome is associated with pulmonary hypertension
2018 · Laura A. Adang, David B. Frank, et al. · Molecular Genetics and Metabolism · 53
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Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement
2018 · Rebecca Ahrens-Nicklas, Lars Schlotawa, et al. · Molecular Genetics and Metabolism · 51
The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology Points to Consider for Diagnosis and Management of Autoinflammatory Type I Interferonopathies: CANDLE / PRAAS , SAVI , and AGS
2022 · Kader Cetin Gedik, Lovro Lamot, et al. · Arthritis & Rheumatology · 49
Consensus clinical management guideline for beta‐propeller protein‐associated neurodegeneration
2021 · Jenny L Wilson, Allison Gregory, et al. · Developmental Medicine & Child Neurology · 48
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Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra‐rare disease
2020 · Laura A. Adang, Lars Schlotawa, et al. · Journal of Inherited Metabolic Disease · 45
Development of a neurologic severity scale for Aicardi Goutières Syndrome
2020 · Laura A. Adang, Francesco Gavazzi, et al. · Molecular Genetics and Metabolism · 44
Late-Onset Aicardi-Goutières Syndrome: A Characterization of Presenting Clinical Features
2020 · Cara Piccoli, Nowa Bronner, et al. · Pediatric Neurology · 43
Asynchronous Progression through the Lytic Cascade and Variations in Intracellular Viral Loads Revealed by High-Throughput Single-Cell Analysis of Kaposi's Sarcoma-Associated Herpesvirus Infection
2006 · Laura A. Adang, Christopher H. Parsons, et al. · Journal of Virology · 42
Phenotypic and Imaging Spectrum Associated With WDR45
2020 · Laura A. Adang, Amy Pizzino, et al. · Pediatric Neurology · 37
Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania
2022 · Jessica R. C. Priestley, Laura A. Adang, et al. · International Journal of Neonatal Screening · 35
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Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi)
2022 · Daphne H. Schoenmakers, Shanice Beerepoot, et al. · Orphanet Journal of Rare Diseases · 35
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Understanding the phenotypic spectrum of ASXL ‐related disease: Ten cases and a review of the literature
2021 · Vishnu Anand Cuddapah, Holly A. Dubbs, et al. · American Journal of Medical Genetics Part A · 35
Pediatric anti‐ NMDA receptor encephalitis is seasonal
2014 · Laura A. Adang, David R. Lynch, et al. · Annals of Clinical and Translational Neurology · 35
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Newborn screening in metachromatic leukodystrophy – European consensus-based recommendations on clinical management
2024 · Lucia Laugwitz, Daphne H. Schoenmakers, et al. · European Journal of Paediatric Neurology · 34
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Leukocyte and Dried Blood Spot Arylsulfatase A Assay by Tandem Mass Spectrometry
2020 · Xinying Hong, Arun Babu Kumar, et al. · Analytical Chemistry · 34
Works count: 159
Citation count: 2,296
H-index: 28
I10-index: 51
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