Elisabeth M. Rosser
London, ENG, United Kingdom
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 25 publications
An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants.
Journal: European journal of human genetics : EJHG
Published: February 21, 2026
Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model.
Journal: Brain communications
Published: May 10, 2021
Genetic testing in motor neuron disease and frontotemporal dementia: a 5-year multicentre evaluation.
Journal: Journal of medical genetics
Published: February 08, 2021
Contribution of retrotransposition to developmental disorders.
Journal: Nature communications
Published: November 28, 2018
ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy.
Journal: PLoS genetics
Published: July 31, 2018
Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17.
Journal: Frontiers in cellular neuroscience
Published: July 30, 2018
Improving access to genetic testing for adults with intellectual disability: A literature review and lessons from a quality improvement project in East London.
Journal: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
Published: July 16, 2018
Germline retinoblastoma: estimating risk and counselling the family.
Journal: Community eye health
Published: June 20, 2018
Epidemiological and genetic considerations in retinoblastoma.
Journal: Community eye health
Published: June 20, 2018
A case of exudative vitreoretinopathy and chorioretinal coloboma associated with microcephaly in a female with contiguous Xp11.3-11.4 deletion.
Journal: Ophthalmic genetics
Published: April 05, 2018
22 Years of predictive testing for Huntington's disease: the experience of the UK Huntington's Prediction Consortium.
Journal: European journal of human genetics : EJHG
Published: October 13, 2017
Clinical and genetic characterization of AP4B1-associated SPG47.
Journal: American journal of medical genetics. Part A
Published: August 23, 2017
Last Updated: 09/26/2026