Ghoumid, Jamal

Top Publications

Top Publications Authored or Co-Authored by "Ghoumid, Jamal"

• Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

  Brain, Volume 143, No. 10, Year 2020, Citations 88
• Arterial tortuosity syndrome: 40 new families and literature review

  Genetics in Medicine, Volume 20, No. 10, Year 2018, Citations 67
• Kbp-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome

  Human Molecular Genetics, Volume 22, No. 12, Year 2013, Citations 36
• Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling

  Genetics in Medicine, Volume 24, No. 8, Year 2022, Citations 25
• Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome

  European Journal of Medical Genetics, Volume 61, No. 10, Year 2018, Citations 24