Katie Guegan

Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families

Susana Igreja, Harvinder S. Chahal, Peter King et al. · Human Mutation · 2010 · 178 citations · Full text

Growth in PHEX-associated X-linked hypophosphatemic rickets: the importance of early treatment

Catherine Quinlan, Katie Guegan, Amaka C Offiah et al. · Pediatric Nephrology · 2011 · 89 citations

Signal Transduction, Molecular Physiology, Biochemistry +7

<i>JAG1</i> mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome

Katie Guegan, Karen Stals, Martin Day et al. · Clinical Genetics · 2011 · 65 citations · Full text

Immunodeficiencies, Genetics, Diagnosis +17

Nucleocytoplasmic transport of the RNA-binding protein CELF2 regulates neural stem cell fates

Melissa J MacPherson, Sarah L. Erickson, Drayden Kopp et al. · Cell Reports · 2021 · 36 citations · Full text

Rna-binding Protein Celf2, Brain Development, Epigenetics +22

Consolidation of the clinical and genetic definition of a <i>SOX4-</i>related neurodevelopmental syndrome

Marco Angelozzi, Anirudha Karvande, Arnaud Molin et al. · Journal of Medical Genetics · 2022 · 18 citations · Full text