Cited by

• ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome.

  Zak J, Vives V, Szumska D, Vernet A, Schneider JE, Miller P, Slee EA, Joss S, Lacassie Y, Chen E, Escobar LF, Tucker M, Aylsworth AS, Dubbs HA, Collins AT, Andrieux J, Dieux-Coeslier A, Haberlandt E, Kotzot D, Scott DA, Parker MJ, Zakaria Z, Choy YS, Wieczorek D, Innes AM, Jun KR, Zinner S, Prin F, Lygate CA, Pretorius P, Rosenfeld JA, Mohun TJ, Lu X. Zak J, et al. Cell Death Differ. 2016 Dec;23(12):1973-1984. doi: 10.1038/cdd.2016.76. Epub 2016 Jul 22. Cell Death Differ. 2016. PMID: 27447114 Free PMC article.
• WNT5A mutations in patients with autosomal dominant Robinow syndrome.

  Person AD, Beiraghi S, Sieben CM, Hermanson S, Neumann AN, Robu ME, Schleiffarth JR, Billington CJ Jr, van Bokhoven H, Hoogeboom JM, Mazzeu JF, Petryk A, Schimmenti LA, Brunner HG, Ekker SC, Lohr JL. Person AD, et al. Dev Dyn. 2010 Jan;239(1):327-37. doi: 10.1002/dvdy.22156. Dev Dyn. 2010. PMID: 19918918 Free PMC article.
• WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.

  Skraban CM, Wells CF, Markose P, Cho MT, Nesbitt AI, Au PYB, Begtrup A, Bernat JA, Bird LM, Cao K, de Brouwer APM, Denenberg EH, Douglas G, Gibson KM, Grand K, Goldenberg A, Innes AM, Juusola J, Kempers M, Kinning E, Markie DM, Owens MM, Payne K, Person R, Pfundt R, Stocco A, Turner CLS, Verbeek NE, Walsh LE, Warner TC, Wheeler PG, Wieczorek D, Wilkens AB, Zonneveld-Huijssoon E; Deciphering Developmental Disorders Study; Kleefstra T, Robertson SP, Santani A, van Gassen KLI, Deardorff MA. Skraban CM, et al. Am J Hum Genet. 2017 Jul 6;101(1):139-148. doi: 10.1016/j.ajhg.2017.06.002. Am J Hum Genet. 2017. PMID: 28686853 Free PMC article.
• Malformation syndromes associated with disorders of sex development.

  Hutson JM, Grover SR, O'Connell M, Pennell SD. Hutson JM, et al. Nat Rev Endocrinol. 2014 Aug;10(8):476-87. doi: 10.1038/nrendo.2014.83. Epub 2014 Jun 10. Nat Rev Endocrinol. 2014. PMID: 24913517 Review.
• Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns.

  Coughlin CR 2nd, Scharer GH, Shaikh TH. Coughlin CR 2nd, et al. Genome Med. 2012 Oct 30;4(10):80. doi: 10.1186/gm381. eCollection 2012. Genome Med. 2012. PMID: 23114084 Free PMC article. Review.