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Strong Laboratory Publications

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Below is a list of selected publications from the Strong Lab. A full list of publications can be found on PubMed.

Novel insights into the phenotypic spectrum and pathogenesis of Hardikar syndrome
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics · October, 2024
TOPORS as a novel causal gene for Joubert syndrome
American Journal Of Medical Genetics. Part A · August, 2023
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature
American Journal Of Medical Genetics. Part A · May, 2023
CRISPR gene-editing therapies for hypertrophic cardiomyopathy
Nature Medicine · February, 2023
Molecular diagnosis and novel genes and phenotypes in a pediatric thoracic insufficiency cohort
Scientific Reports · January, 2023
TBX6 as a cause of a combined skeletal-kidney dysplasia syndrome
American Journal Of Medical Genetics. Part A · December, 2022
A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol-regulated transcription and the endoplasmic reticulum stress response
American Journal Of Medical Genetics. Part A · February, 2022
Expanding the phenotypic spectrum of Mendelian connective tissue disorders to include prominent kidney phenotypes
American Journal Of Medical Genetics. Part A · December, 2021
Hepatic Manifestations of Urea Cycle Disorders
Clinical Liver Disease · September, 2021
Hepatic Manifestations of Mendelian Disorders of Cholesterol Biosynthesis and Cellular Metabolism
Clinical Liver Disease · August, 2021
Expanding the genetic landscape of oral-facial-digital syndrome with two novel genes
American Journal Of Medical Genetics. Part A · August, 2021
A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213
American Journal Of Medical Genetics. Part A · July, 2021
De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics · April, 2021
A novel heterotaxy gene: Expansion of the phenotype of TTC21B-spectrum disease
American Journal Of Medical Genetics. Part A · April, 2021
Ciliopathies: Coloring outside of the lines
Am J Med Genet A · March, 2021
Early presentation of adult-onset conditions: A dual diagnosis of hereditary hemochromatosis and porphyria cutanea tarda
Mol Genet Metab Rep · August, 2020