El-Chehadeh, Salima

Top Publications

Top Publications Authored or Co-Authored by "El-Chehadeh, Salima"

• Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

  Molecular Psychiatry, Volume 28, No. 2, Year 2023, Citations 99
• Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients

  Journal of Human Genetics, Volume 64, No. 12, Year 2019, Citations 79
• Next-generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy

  Human Mutation, Volume 41, No. 12, Year 2020, Citations 49
• The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies

  Kidney International, Volume 104, No. 2, Year 2023, Citations 3
• A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease

  Genetics in Medicine, Volume 24, No. 10, Year 2022, Citations 1