Published in Am J Hum Genet on April 06, 2012
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An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity. Hum Mol Genet (2012) 1.16
11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity. Am J Med Genet A (2011) 1.14
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The MCT8 thyroid hormone transporter and Allan-Herndon-Dudley syndrome. Best Pract Res Clin Endocrinol Metab (2007) 1.13
A missense mutation in CASK causes FG syndrome in an Italian family. Am J Hum Genet (2009) 1.12
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Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 gene. Am J Med Genet A (2006) 1.11
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Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation. Hum Genet (2005) 1.10
Limb-body wall defect. Is there a defensible hypothesis and can it explain all the associated anomalies? Am J Med Genet A (2011) 1.10
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X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology. Hum Genet (2006) 1.06
Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis. Hum Mutat (2011) 1.06
Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome. Eur J Hum Genet (2002) 1.04
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Genotype-phenotype relationship in patients with mutations in thyroid hormone transporter MCT8. Endocrinology (2008) 1.02
Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia. Am J Hum Genet (2002) 1.02
MED12 mutations link intellectual disability syndromes with dysregulated GLI3-dependent Sonic Hedgehog signaling. Proc Natl Acad Sci U S A (2012) 1.00
FG syndrome, an X-linked multiple congenital anomaly syndrome: the clinical phenotype and an algorithm for diagnostic testing. Genet Med (2009) 1.00
17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD). Eur J Hum Genet (2011) 0.99
Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly. Am J Hum Genet (2004) 0.99
Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation. Eur J Hum Genet (2009) 0.99
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