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Publications by Sarah Smithson

Mutations in GATA2 Cause Primary Lymphedema Associated With a Predisposition to Acute Myeloid Leukemia (Emberger Syndrome)

Nature Genetics
Genetics
2011English

Bi-Allelic Loss-Of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

American Journal of Human Genetics
Genetics
2019English

De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome

American Journal of Human Genetics
Genetics
2012English

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

American Journal of Human Genetics
Genetics
2019English

Brittle Cornea Syndrome: Recognition, Molecular Diagnosis and Management

Orphanet Journal of Rare Diseases
MedicineGeneticsPharmacology
2013English

Refining the Primrose Syndrome Phenotype: A Study of Five Patients With ZBTB20 De Novo Variants and a Review of the Literature

American Journal of Medical Genetics, Part A
Genetics
2019English

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