Banka, Siddharth

Top Publications

Top Publications Authored or Co-Authored by "Banka, Siddharth"

• Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

  Nature Genetics, Volume 48, No. 9, Year 2016, Citations 329
• 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
• Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

  Molecular Psychiatry, Volume 28, No. 2, Year 2023, Citations 99