Cantú syndrome is caused by mutations in ABCC9.

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Cantú syndrome resulting from activating mutation in the KCNJ8 gene. Hum Mutat (2014) 0.98

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Abcc9 is required for the transition to oxidative metabolism in the newborn heart. FASEB J (2014) 0.76

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Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes. Ital J Pediatr (2015) 0.75

Clinical utility gene card for: Cantú syndrome. Eur J Hum Genet (2017) 0.75

A tribute to josé maría ("chema") cantú. Genet Mol Biol (2014) 0.75

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Cantú Syndrome Associated with Ovarian Agenesis. Mol Syndromol (2017) 0.75

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A de novo paradigm for mental retardation. Nat Genet (2010) 8.57

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nat Genet (2010) 5.72

KATP channels as molecular sensors of cellular metabolism. Nature (2006) 5.34

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

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ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating. Nat Genet (2004) 2.85

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. Nat Genet (2011) 2.09

Muscle KATP channels: recent insights to energy sensing and myoprotection. Physiol Rev (2010) 2.06

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ABCC8 and ABCC9: ABC transporters that regulate K+ channels. Pflugers Arch (2006) 1.47

Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11. Rev Endocr Metab Disord (2010) 1.28

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Cantú syndrome: report of nine new cases and expansion of the clinical phenotype. Am J Med Genet A (2011) 1.11

Increased ATPase activity produced by mutations at arginine-1380 in nucleotide-binding domain 2 of ABCC8 causes neonatal diabetes. Proc Natl Acad Sci U S A (2007) 1.11

Calcium and heart failure: the cycle game. Nat Med (2003) 1.09

Cantu syndrome in a woman and her two daughters: Further confirmation of autosomal dominant inheritance and review of the cardiac manifestations. Am J Med Genet A (2006) 0.99

Autosomal dominant inheritance in Cantú syndrome (congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly). Am J Med Genet (2000) 0.94

Further case of Cantú syndrome: exclusion of cryptic subtelomeric chromosome aberrations. Am J Med Genet (2002) 0.91

The ATPase activities of sulfonylurea receptor 2A and sulfonylurea receptor 2B are influenced by the C-terminal 42 amino acids. FEBS J (2010) 0.90

Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: further delineation of a new genetic syndrome. Am J Med Genet (1997) 0.89

A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu syndrome. Am J Med Genet A (2005) 0.88

Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantú syndrome. Am J Med Genet (1999) 0.88

Three patients with the osteochondrodysplasia and hypertrichosis syndrome--Cantu syndrome. Clin Dysmorphol (1998) 0.87

Binding and effect of K ATP channel openers in the absence of Mg2+. Br J Pharmacol (2003) 0.85

Minoxidil stimulates elastin expression in aortic smooth muscle cells. Arch Biochem Biophys (1994) 0.82

Cantu syndrome and lymphoedema. Clin Dysmorphol (2011) 0.81

Calcium signaling dysfunction in heart disease. Biofactors (2011) 0.79

Copy number variations on chromosome 4q26-27 are associated with Cantu syndrome. Dermatology (2012) 0.79

Anesthetic experience in a patient with Cantú syndrome. Paediatr Anaesth (2008) 0.77

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med (2008) 10.88

Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med (2012) 10.80

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A de novo paradigm for mental retardation. Nat Genet (2010) 8.57

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet (2012) 8.42

Lamin a truncation in Hutchinson-Gilford progeria. Science (2003) 8.01

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet (2004) 6.90

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. Nat Genet (2006) 6.15

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat Genet (2006) 5.92

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nat Genet (2010) 5.72

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data. Nucleic Acids Res (2013) 5.66

Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities. Am J Hum Genet (2003) 5.43

A text-mining analysis of the human phenome. Eur J Hum Genet (2006) 4.98

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet (2008) 4.87

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am J Hum Genet (2006) 4.77

Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1. Nat Genet (2008) 4.44

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science (2008) 4.04

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. Nat Genet (2011) 3.97

Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells. J Exp Med (2008) 3.85

De novo mutations in human genetic disease. Nat Rev Genet (2012) 3.81

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. Nat Genet (2010) 3.73

Identification of common variants associated with human hippocampal and intracranial volumes. Nat Genet (2012) 3.73

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat Genet (2006) 3.69

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nat Genet (2010) 3.60

Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. Nat Genet (2009) 3.58

Characterization of a recurrent 15q24 microdeletion syndrome. Hum Mol Genet (2007) 3.54

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. Am J Hum Genet (2010) 3.47

Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Am J Hum Genet (2007) 3.42

CEP152 is a genome maintenance protein disrupted in Seckel syndrome. Nat Genet (2010) 3.25

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nat Genet (2003) 3.23

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. Nat Genet (2007) 3.22

The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. Nat Genet (2006) 3.17

STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. N Engl J Med (2011) 3.11

High-throughput analysis of subtelomeric chromosome rearrangements by use of array-based comparative genomic hybridization. Am J Hum Genet (2002) 3.10

Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet (2002) 3.09

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat Genet (2007) 3.02

Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nat Genet (2004) 2.94

Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate. Nat Genet (2009) 2.93

Disease gene identification strategies for exome sequencing. Eur J Hum Genet (2012) 2.89

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. Am J Hum Genet (2011) 2.85

Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet (2007) 2.81

PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet (2002) 2.81

Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion. Nat Genet (2005) 2.77

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

Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta. Am J Hum Genet (2011) 2.69

Fibrodysplasia ossificans progressiva. Best Pract Res Clin Rheumatol (2008) 2.64

Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome. Nat Genet (2005) 2.64

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. Nat Genet (2012) 2.63

Multiple phenotypes in phosphoglucomutase 1 deficiency. N Engl J Med (2014) 2.62

Unlocking Mendelian disease using exome sequencing. Genome Biol (2011) 2.62

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis. Nat Genet (2011) 2.61

Recurrent CNVs disrupt three candidate genes in schizophrenia patients. Am J Hum Genet (2008) 2.61

Massively parallel sequencing of ataxia genes after array-based enrichment. Hum Mutat (2010) 2.60