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Publications by John Christodoulou

Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia—MLASA Syndrome

American Journal of Human Genetics

English

Systematic Mapping of Free Energy Landscapes of a Growing Filamin Domain During Biosynthesis

Proceedings of the National Academy of Sciences of the United States of America

Multidisciplinary

English

Extensive Variation in the Mutation Rate Between and Within Human Genes Associated With Mendelian Disease

English

Binding of Monovalent and Bivalent Ligands by Transthyretin Causes Different Short and Long Distance Conformational Changes

Journal of Medicinal Chemistry

Molecular Medicine

English

Structural Investigation of an Immunoglobulin Domain on the Ribosome Using NMR Spectroscopy

Biophysical Journal

English

Mutations in RARS Cause a Hypomyelination Disorder Akin to Pelizaeus–Merzbacher Disease

European Journal of Human Genetics

English

Mosaic MECP2 Variants in Males With Classical Rett Syndrome Features, Including Stereotypical Hand Movements

Clinical Genetics

English

Presymptomatic Detection of Metastatic Breast Cancer Using Non-Invasive Prenatal Testing (NIPT)

Forensic Medicine

English

Rapid Exome Sequencing and Adjunct Rna Studies Confirm Pathogenicity of a Novel Homozygous Asns Splicing Variant in a Critically Ill Neonate

Forensic Medicine

English

Disorders of Riboflavin Metabolism

Journal of Inherited Metabolic Disease

English