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A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development. Am J Med Genet A (2012) 0.82

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Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet (2010) 12.63

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Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. N Engl J Med (2006) 4.88

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Germline mutations in HRAS proto-oncogene cause Costello syndrome. Nat Genet (2005) 4.47

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Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet (2010) 3.82

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De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. Nat Genet (2008) 2.98

Haploinsufficiency of NSD1 causes Sotos syndrome. Nat Genet (2002) 2.96

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Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. Am J Hum Genet (2007) 2.74

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nat Genet (2006) 2.68

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Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. Nat Genet (2011) 2.52

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tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nat Genet (2008) 2.28

Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Nat Genet (2003) 2.23

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Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors. Hum Mol Genet (2005) 2.06

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. Nat Genet (2013) 2.06

CHARGE syndrome: an update. Eur J Hum Genet (2007) 2.03

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The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. J Med Genet (2007) 2.02

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