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Publications by Tim M. Strom

A Gain-Of-Function Mutation in the CLCN2 Chloride Channel Gene Causes Primary Aldosteronism

Nature Genetics

English

Bi-Allelic ADPRHL2 Mutations Cause Neurodegeneration With Developmental Delay, Ataxia, and Axonal Neuropathy

American Journal of Human Genetics

English

Common Genetic Variants Associate With Serum Phosphorus Concentration

Journal of the American Society of Nephrology : JASN

English

VARS2andTARS2Mutations in Patients With Mitochondrial Encephalomyopathies

English

KCNC1 ‐related Disorders: New De Novo Variants Expand the Phenotypic Spectrum

Annals of Clinical and Translational Neurology

English

Heterozygous Loss-Of-Function Variants of MEIS2 Cause a Triad of Palatal Defects, Congenital Heart Defects, and Intellectual Disability

European Journal of Human Genetics

English

Compound Heterozygous SPATA5 Variants in Four Families and Functional Studies of SPATA5 Deficiency

European Journal of Human Genetics

English

Genomic Organization of the HumanPEXGene Mutated in X-Linked Dominant Hypophosphatemic Rickets

Genome Research

English