0000-0001-7463-5365 Employment
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University College London Senior Research Fellow
Education
Education history is unavailable.
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Publications (28)
- International guideline on genetic testing of children with short stature Save
- CCDC149: a novel gene associated with hypopituitarism and neurodevelopmental impairment Save
- A complex multisystem disorder including hypopituitarism and hypoparathyroidism, associated with mutation in the gene encoding fatty acid synthase (FASN) Save
- Identification of genetic variants and phenotypic characterization of a large cohort of patients with congenital hypopituitarism and related disorders Save
- A recessive PRDM13 mutation results in congenital hypogonadotropic hypogonadism and cerebellar hypoplasia Save
- Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency. Save
- The phenotypic spectrum associated with OTX2 mutations in humans. Save
- Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans Save
- Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism Save
- The Molecular Basis of Congenital Hypopituitarism and Related Disorders Save