Shira G. Ziegler
Medical Genetics | Pediatrics
Rubenstein BLDG Lower Level
Baltimore, MD 21287
Baltimore, MD 21287
Last Updated: 09/26/2026
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Found 16 publications
Multi-State Structural Genomics Enables Large-Scale, Mechanistic, and Context-Specific Classification of ABCC6 Genetic Variants Implicated in Calcification Diseases.
Journal: International journal of molecular sciences
Published: December 02, 2025
A Multi-State Structural Genomics Approach Enables Large-Scale, Mechanistic, and Context-Specific Classification of ABCC6 Genetic Variants Implicated in Calcification Diseases.
Journal: bioRxiv : the preprint server for biology
Published: July 16, 2025
Pediatric ABCC6 deficiency: a genotypic and phenotypic analysis.
Journal: Orphanet journal of rare diseases
Published: June 06, 2025
Inborn errors of amino acid metabolism - from underlying pathophysiology to therapeutic advances.
Journal: Disease models & mechanisms
Published: April 06, 2023
Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program.
Journal: Journal of inherited metabolic disease
Published: February 16, 2022
Response to Stern et al.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 06, 2021
Toward precision medicine in vascular connective tissue disorders.
Journal: American journal of medical genetics. Part A
Published: May 04, 2021
Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI).
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 06, 2020
A comprehensive, multidisciplinary, precision medicine approach to discover effective therapy for an undiagnosed, progressive, fibroinflammatory disease.
Journal: Translational research : the journal of laboratory and clinical medicine
Published: May 02, 2019
Lineage-specific events underlie aortic root aneurysm pathogenesis in Loeys-Dietz syndrome.
Journal: The Journal of clinical investigation
Published: July 13, 2018
Hypercementosis Associated with ENPP1 Mutations and GACI.
Journal: Journal of dental research
Published: December 16, 2017
Ectopic calcification in pseudoxanthoma elasticum responds to inhibition of tissue-nonspecific alkaline phosphatase.
Journal: Science translational medicine
Published: October 06, 2016
Last Updated: 09/26/2026