Jill A Rosenfeld

None None 6 collaborations

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Affiliations

Publications (13)

Heterozygous variants in SPTBN1 cause intellectual disability and autism.

A novel de novo intronic variant in ITPR1 causes Gillespie syndrome.

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease.

Molecular characterisation of rare loss-of-function NPAS3 and NPAS4 variants identified in individuals with neurodevelopmental disorders.

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.

Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.

Mutations in RABL3 alter KRAS prenylation and are associated with hereditary pancreatic cancer.

TCF4 induces enzalutamide resistance via neuroendocrine differentiation in prostate cancer.

Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing.

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.

Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum.

Further delineation of the phenotypic spectrum associated with hemizygous loss-of-function variants in NONO.

Réseau de co-auteurs