Boardman-Pretty, Freya

Top Publications

Top Publications Authored or Co-Authored by "Boardman-Pretty, Freya"

• Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia

  Genetics in Medicine, Volume 25, No. 1, Year 2023, Citations 100
• Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

  Genetics in Medicine, Volume 23, No. 11, Year 2021, Citations 100
• Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

  Nature Communications, Volume 14, No. 1, Article 4109, Year 2023, Citations 100
• Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical features

  Nature Genetics, Volume 54, No. 11, Year 2022, Citations 100
• Late-Onset Autosomal Dominant Macular Degeneration Caused by Deletion of the CRX Gene

  Ophthalmology, Volume 130, No. 1, Year 2023, Citations 87