Shira G. Ziegler

Biochemistry, Genetics and Molecular Biology · Life Sciences

21h-index3.7kcitations39works0.02yr avg
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Research Topics

Dermatological and Skeletal Disorders(11), Parathyroid Disorders and Treatments(8), Lysosomal Storage Disorders Research(6), Connective tissue disorders research(6), Heterotopic Ossification and Related Conditions(6)

Publications39 total

Ex Vivo Porcine Livers for Treating Maple Syrup Urine Disease: A Pilot Study
American Journal of Transplantation·2026Open Access
031 Spatial Transcriptomic Mapping of Dermatomyositis-Associated Calcinosis Cutis Reveals Local Professional Antigen Presentation, Plasma Cell Activation, and Acellular Calcinosis mRNA Signature
Journal of Investigative Dermatology·2025
Pediatric ABCC6 deficiency: a genotypic and phenotypic analysis
Orphanet Journal of Rare Diseases·2025Open Access
0031 Spatial transcriptomics uncovers progressive osteopontin expression, mitochondrial dysfunction, and IL-6 inflammatory signature in dermatomyositis-associated calcinosis cutis
Journal of Investigative Dermatology·2025Open Access
A Multi-State Structural Genomics Approach Enables Large-Scale, Mechanistic, and Context-Specific Classification of ABCC6 Genetic Variants Implicated in Calcification Diseases
2025Open Access
P177: Evaluation of the genotypic and phenotypic spectrum of pediatric ABCC6 deficiency
Genetics in Medicine Open·2025Open Access
P035: Metabolic profiling of cytosolic phosphoenolpyruvate carboxykinase (PEPCK1) deficiency associated with a novel homozygous missense variant in PCK1
Genetics in Medicine Open·2024Open Access
Inborn errors of amino acid metabolism – from underlying pathophysiology to therapeutic advances
Disease Models & Mechanisms·2023· 12 citedOpen Access
Diagnosis and discovery: Insights from the <scp>NIH</scp> Undiagnosed Diseases Program
Journal of Inherited Metabolic Disease·2022· 25 citedOpen Access
Toward precision medicine in vascular connective tissue disorders
American Journal of Medical Genetics Part A·2021· 3 cited
Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI)
Genetics in Medicine·2020· 82 citedOpen Access
A comprehensive, multidisciplinary, precision medicine approach to discover effective therapy for an undiagnosed, progressive, fibroinflammatory disease
Translational research·2019Open Access
Lineage-specific events underlie aortic root aneurysm pathogenesis in Loeys-Dietz syndrome
Journal of Clinical Investigation·2019· 115 citedOpen Access
Hypercementosis Associated with <i>ENPP1</i> Mutations and GACI
Journal of Dental Research·2017· 61 citedOpen Access
Disorders and Mechanisms of Ectopic Calcification
Elsevier eBooks·2017· 3 cited
Ectopic calcification in pseudoxanthoma elasticum responds to inhibition of tissue-nonspecific alkaline phosphatase
Science Translational Medicine·2017· 108 cited
Delineating the mechanisms underlying rare disorders of ectopic calcification to reveal novel therapeutic strategies
2017
Neurologic involvement in patients with atypical Chediak-Higashi disease
Neurology·2017· 25 cited
Neurologic involvement in patients with atypical Chediak-Higashi disease
Neurology·2016· 34 citedOpen Access
Treatment of hypophosphatemic rickets in generalized arterial calcification of infancy (GACI) without worsening of vascular calcification
American Journal of Medical Genetics Part A·2016· 30 citedOpen Access
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Frequent Co-authors

William A. Gahl(20), Carlos R. Ferreira(6), Manfred Boehm(5), Marjan Huizing(5), Michael J. Eblan(4), Catherine Groden(4), Heidi Dorward(4), Ellen Sidransky(4), David R. Adams(4), Cynthia St. Hilaire(3), Thomas C. Markello(3), Marcus Y. Chen(3), Robert L. Nussbaum(3), Harry C. Dietz(3), M. Zulf Mughal(3), Gretchen Golas(3), Kirkland Wilson(3), Bernadette R. Gochuico(3), Wendy Westbroek(3), Richard A. Hess(3)