List of works - Emma N. Hilton

Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature

scientific article

Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome

scientific article

The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1.

scientific article published on 28 May 2009

Mutations in HPSE2 cause urofacial syndrome

scientific article

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects

scientific article

LRIG2 mutations cause urofacial syndrome

scientific article

Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency

scientific article

VegT activation of the early zygotic gene Xnr5 requires lifting of Tcf-mediated repression in the Xenopus blastula

scientific article published on October 1, 2003

The cataract-associated protein TMEM114, and TMEM235, are glycosylated transmembrane proteins that are distinct from claudin family members

scientific article published on June 16, 2011

Heparanase 2, mutated in urofacial syndrome, mediates peripheral neural development in Xenopus

scientific article published on April 2014

Urofacial syndrome: a genetic and congenital disease of aberrant urinary bladder innervation.

scientific article published on 09 July 2013

Urinary tract effects of HPSE2 mutations

scientific article

De novo mutation in the BIGH3/TGFB1 gene causing granular corneal dystrophy.

scientific article published on August 2007

The International Olympic Committee framework on fairness, inclusion and nondiscrimination on the basis of gender identity and sex variations does not protect fairness for female athletes

scientific article published in March 2024

Mutations in HPSE2 Cause Urofacial Syndrome

scientific article published in August 2010

Transgender Women in the Female Category of Sport: Perspectives on Testosterone Suppression and Performance Advantage

scientific article published on 08 December 2020

List of works by Emma N. Hilton

Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature

Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome

The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1.

Mutations in HPSE2 cause urofacial syndrome

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects

LRIG2 mutations cause urofacial syndrome

Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency

VegT activation of the early zygotic gene Xnr5 requires lifting of Tcf-mediated repression in the Xenopus blastula

The cataract-associated protein TMEM114, and TMEM235, are glycosylated transmembrane proteins that are distinct from claudin family members

Heparanase 2, mutated in urofacial syndrome, mediates peripheral neural development in Xenopus

Urofacial syndrome: a genetic and congenital disease of aberrant urinary bladder innervation.

Urinary tract effects of HPSE2 mutations

De novo mutation in the BIGH3/TGFB1 gene causing granular corneal dystrophy.

The International Olympic Committee framework on fairness, inclusion and nondiscrimination on the basis of gender identity and sex variations does not protect fairness for female athletes

Mutations in HPSE2 Cause Urofacial Syndrome

Transgender Women in the Female Category of Sport: Perspectives on Testosterone Suppression and Performance Advantage