Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family.

Dysplastic spondylolysis is caused by mutations in the diastrophic dysplasia sulfate transporter gene. Proc Natl Acad Sci U S A (2015) 0.86

Multiple roles of the SO4(2-)/Cl-/OH- exchanger protein Slc26a2 in chondrocyte functions. J Biol Chem (2013) 0.77

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

Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1. Hum Mutat (2009) 2.81

Maternal vitamin K deficient embryopathy: association with hyperemesis gravidarum and Crohn disease. Am J Med Genet A (2013) 1.46

Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. Am J Hum Genet (2004) 1.45

Natural history of rhizomelic chondrodysplasia punctata. Am J Med Genet A (2003) 1.27

The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals. Am J Med Genet C Semin Med Genet (2012) 1.23

Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings. Am J Med Genet A (2004) 1.20

Stillbirth classification--developing an international consensus for research: executive summary of a National Institute of Child Health and Human Development workshop. Obstet Gynecol (2009) 1.20

Spondylometaphyseal dysplasia with cone-rod dystrophy. Am J Med Genet A (2004) 0.96

DLL3 as a candidate gene for vertebral malformations. Am J Med Genet A (2006) 0.95

A missense T (Brachyury) mutation contributes to vertebral malformations. J Bone Miner Res (2008) 0.95

Newborn screening for cystic fibrosis: parents' preferences regarding counseling at the time of infants' sweat test. J Genet Couns (2006) 0.92

Array-based comparative genomic hybridization (aCGH) in the genetic evaluation of stillbirth. Am J Med Genet A (2009) 0.92

COL2A1-related skeletal dysplasias with predominant metaphyseal involvement. Am J Med Genet A (2007) 0.90

Beckwith-Wiedemann syndrome in adults: observations from one family and recommendations for care. Am J Med Genet A (2008) 0.90

A recessive form of Marshall syndrome is caused by a mutation in the COL11A1 gene. J Med Genet (2012) 0.87

Probable identity of Goltz syndrome and Van Allen-Myhre syndrome: evidence from phenotypic evolution. Am J Med Genet (2002) 0.86

Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR. Am J Med Genet A (2013) 0.85

X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male. Am J Med Genet A (2003) 0.84

Pre- and postnatal findings in trisomy 17 mosaicism. Am J Med Genet A (2006) 0.83

Costs and consequences of comprehensive stillbirth assessment. Am J Obstet Gynecol (2002) 0.81

An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: further definition of the phenotypic heterogeneity of LBR-bone dysplasias. Am J Med Genet A (2014) 0.81

Fraser syndrome: affected siblings born to nonconsanguineous parents and diagnosed at autopsy. Pediatr Dev Pathol (2008) 0.81

Double heterozygosity in bone growth disorders: four new observations and review. Am J Med Genet A (2003) 0.79

Airway malacia in children with achondroplasia. Am J Med Genet A (2013) 0.79

A tailored approach to family-centered genetic counseling for cystic fibrosis newborn screening: the Wisconsin model. J Genet Couns (2010) 0.79

Lack of evidence of WNT3A as a candidate gene for congenital vertebral malformations. Scoliosis (2007) 0.78

The effect of disruptions during counseling on recall of genetic risk information: the case of cystic fibrosis. J Genet Couns (2007) 0.76

Friedreich's ataxia associated with mitochondrial myopathy: clinicopathologic report. J Child Neurol (2002) 0.76

Genetic services plan for Wisconsin. WMJ (2005) 0.76

Chondrodysplasia punctata associated with malabsorption from bariatric procedures. Surg Obes Relat Dis (2009) 0.76

Clinical report: Two patients with atelosteogenesis type I caused by missense mutations affecting the same FLNB residue. Am J Med Genet A (2013) 0.75

Wisconsin Birth Defects Registry collecting data. WMJ (2004) 0.75

Active holography in InGaAs/InP quantum-well microcavities. Opt Lett (2013) 0.75