Frances Elmslie

None None 7 collaborations

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Affiliations

Publications (22)

Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants.

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.

Scope of professional roles for genetic counsellors and clinical geneticists in the United Kingdom : Position on behalf of the Association of Genetic Nurses and Counsellors and the Clinical Genetics Society.

Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.

QSOX2 Deficiency-induced short stature, gastrointestinal dysmotility and immune dysfunction.

Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2.

Expanding the genotype-phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathy.

cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing.

How should health policy and practice respond to the increased genetic risk associated with close relative marriage? results of a UK Delphi consensus building exercise.

A report on the impact of rapid prenatal exome sequencing on the clinical management of 52 ongoing pregnancies: a retrospective review.

Expanded phenotype of AARS1-related white matter disease.

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.

Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.

Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.

Leukoencephalopathy, Intracranial Calcifications, Cysts, and SNORD118 Mutation (Labrune Syndrome) with Obstructive Hydrocephalus.

The UK guidelines for management and surveillance of Tuberous Sclerosis Complex.

Extracellular LGALS3BP regulates neural progenitor position and relates to human cortical complexity.

DLG4-related synaptopathy: a new rare brain disorder.

Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum.

De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.

Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.

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