Gorlin RJ et al. Robin’s syndrome. A probably X-linked recessive subvariety exhibiting persistence of left superior vena cava and atrial septal defect. Am J Dis Child. 1970;119:176-8. PMID: 5410571.
Kurpinski KT et al. Designation of the TARP syndrome and linkage to Xp11.23-q13.3 without samples from affected patients. Am J Med Genet A. 2003;120A(1):1-4. PMID: 12794682.
Johnson JJ et al. Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate. Am J Hum Genet. 2010;86(5):743-8. PMID: 20451169.
Gripp KW et al. Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene. Am J Med Genet A. 2011;155A(10):2516-20. PMID:21910224.
Wang Y et al. Integrative analysis revealed the molecular mechanism underlying RBM10-mediated splicing regulation. EMBO Mol Med. 2013; 5(9):1431-42. PMID: 24000153.
Johnston JJ et al. Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism. Am J Med Genet A. 2014;164A(1): 120-8. PMID: 24259342.
Powis Z et al. Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration. BMC Med Genet 2017; 18(1):60. PMID: 28586478.
Kaeppler KE et al. Infant male with TARP syndrome: Review of clinical features, prognosis, and commonalities with previously reported patients. Am J Med Genet A 2018;176(12):2911-4. PMID: 30450804.
Højland AT et al. First reported adult patient with TARP syndrome: A case report. Am J Med Genet A 2018; 176(12):2915-8. PMID: 30462380.
Niceta M et al. TARP syndrome: Long-term survival, anatomic patterns of congenital heart defects, differential diagnosis and pathogenic considerations. Eur J Med Genet 2018. [Epub ahead of print]. PMID: 30189253.
Carlston C et al. Faces of TARP: Is there a recognizable face in RBM10-related TARP syndrome?Poster presentation, American College of Medical Genetics, Seattle, WA April 2019.