Publications

Abdel-Hamid MS et al.Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights. Clin Genet. 2020;98(5):445-56. PMID: 32740904.

Frasa MA et al.Illuminating the functional and structural repertoire of human TBC/RABGAPs. Nat Rev Mol Cell Biol. 2012;13:67–73. PMID: 22251903.

Handley M, Sheridan E. RAB18 Deficiency. 2018 Jan 4. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. PMID: 29300443

Hozhabri H et al.Martsolf syndrome with novel mutation in the TBC1D20 gene in a family from Iran. Am J Med Genet A. 2020;182(5):957-61. PMID: 32162791.

Liegel RP et al.Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans. Am J Hum Genet. 2013;93(6):1001-14. PMID: 24239381.