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Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders.
Am J Med Genet A. 2011 Oct;155A(10):2386-96. doi: 10.1002/ajmg.a.34177.
Am J Med Genet A. 2011.
PMID: 22031302
Imperforate anus is a rare associated finding in blepharocheilodontic syndrome.
Weaver KN, Rutledge KD, Grant JH, Robin NH.
Weaver KN, et al. Among authors: rutledge kd.
Am J Med Genet A. 2010 Feb;152A(2):438-40. doi: 10.1002/ajmg.a.33207.
Am J Med Genet A. 2010.
PMID: 20101698
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Further delineation of the Kapur-Toriello syndrome.
Robin NH, Rutledge KD, Ray PD, Grant JH.
Robin NH, et al. Among authors: rutledge kd.
Am J Med Genet A. 2010 Apr;152A(4):1013-5. doi: 10.1002/ajmg.a.33349.
Am J Med Genet A. 2010.
PMID: 20358618
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IRF6 mutations in mixed isolated familial clefting.
Rutledge KD, Barger C, Grant JH, Robin NH.
Rutledge KD, et al.
Am J Med Genet A. 2010 Dec;152A(12):3107-9. doi: 10.1002/ajmg.a.33053.
Am J Med Genet A. 2010.
PMID: 21082654
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