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List of works by Emma N. Hilton

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

scientific article

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

scientific article published on August 2007

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

scientific article published on April 2014

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

scientific article

LRIG2 mutations cause urofacial syndrome

scientific article

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

scientific article

Mutations in HPSE2 Cause Urofacial Syndrome

scientific article published in August 2010

Mutations in HPSE2 cause urofacial syndrome

scientific article

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

scientific article

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

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

scientific article published on 28 May 2009

Urinary tract effects of HPSE2 mutations

scientific article

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

scientific article published on 09 July 2013

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

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