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Publications by Sally-Ann Lynch

Mutations in SOX2 Cause Anophthalmia

Nature Genetics

English

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Truncating RAX Mutations: Anophthalmia, Hypopituitarism, Diabetes Insipidus and Cleft Palate in Mice and Men

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ACTN1 Mutations Cause Congenital Macrothrombocytopenia

American Journal of Human Genetics

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LRIG2 Mutations Cause Urofacial Syndrome

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Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia

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Somatic Mutations in NEK9 Cause Nevus Comedonicus

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Anophthalmia and Microphthalmia

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Constitutional Mutations in RTEL1 Cause Severe Dyskeratosis Congenita

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Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis

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Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability

American Journal of Human Genetics

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