Rahman, Fatima

Top Publications

Top Publications Authored or Co-Authored by "Rahman, Fatima"

• 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
• Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia

  Brain, Volume 144, No. 5, 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
• MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia

  Annals of Neurology, Volume 89, No. 4, Year 2021, Citations 45
• Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy

  American Journal of Human Genetics, Volume 106, No. 4, Year 2020, Citations 38