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• GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK.

  Au PYB, You J, Caluseriu O, Schwartzentruber J, Majewski J, Bernier FP, Ferguson M; Care for Rare Canada Consortium; Valle D, Parboosingh JS, Sobreira N, Innes AM, Kline AD. Au PYB, et al. Hum Mutat. 2015 Oct;36(10):1009-1014. doi: 10.1002/humu.22837. Epub 2015 Aug 6. Hum Mutat. 2015. PMID: 26173930 Free PMC article.
• Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature.

  Au PYB, Goedhart C, Ferguson M, Breckpot J, Devriendt K, Wierenga K, Fanning E, Grange DK, Graham GE, Galarreta C, Jones MC, Kini U, Stewart H, Parboosingh JS, Kline AD, Innes AM; Care for Rare Canada Consortium. Au PYB, et al. Eur J Hum Genet. 2018 Sep;26(9):1272-1281. doi: 10.1038/s41431-018-0187-2. Epub 2018 Jun 14. Eur J Hum Genet. 2018. PMID: 29904177 Free PMC article. Review.
• An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.

  Choufani S, McNiven V, Cytrynbaum C, Jangjoo M, Adam MP, Bjornsson HT, Harris J, Dyment DA, Graham GE, Nezarati MM, Aul RB, Castiglioni C, Breckpot J, Devriendt K, Stewart H, Banos-Pinero B, Mehta S, Sandford R, Dunn C, Mathevet R, van Maldergem L, Piard J, Brischoux-Boucher E, Vitobello A, Faivre L, Bournez M, Tran-Mau F, Maystadt I, Fernández-Jaén A, Alvarez S, García-Prieto ID, Alkuraya FS, Alsaif HS, Rahbeeni Z, El-Akouri K, Al-Mureikhi M, Spillmann RC, Shashi V, Sanchez-Lara PA, Graham JM Jr, Roberts A, Chorin O, Evrony GD, Kraatari-Tiri M, Dudding-Byth T, Richardson A, Hunt D, Hamilton L, Dyack S, Mendelsohn BA, Rodríguez N, Sánchez-Martínez R, Tenorio-Castaño J, Nevado J, Lapunzina P, Tirado P, Carminho Amaro Rodrigues MT, Quteineh L, Innes AM, Kline AD, Au PYB, Weksberg R. Choufani S, et al. Am J Hum Genet. 2022 Oct 6;109(10):1867-1884. doi: 10.1016/j.ajhg.2022.08.014. Epub 2022 Sep 20. Am J Hum Genet. 2022. PMID: 36130591 Free PMC article.
• Illuminating the Genetic Basis of Congenital Heart Disease in Patients with Kabuki Syndrome.

  Lee CL, Chuang CK, Chen MR, Lin JL, Chiu HC, Chang YH, Tu YR, Lo YT, Lin HY, Lin SP. Lee CL, et al. Diagnostics (Basel). 2024 Apr 19;14(8):846. doi: 10.3390/diagnostics14080846. Diagnostics (Basel). 2024. PMID: 38667491 Free PMC article.
• Genetic Causes of Craniosynostosis: An Update.

  Goos JAC, Mathijssen IMJ. Goos JAC, et al. Mol Syndromol. 2019 Feb;10(1-2):6-23. doi: 10.1159/000492266. Epub 2018 Aug 15. Mol Syndromol. 2019. PMID: 30976276 Free PMC article. Review.