Published in Am J Med Genet A on May 11, 2012
Pharmacogenomic characterization of gemcitabine response--a framework for data integration to enable personalized medicine. Pharmacogenet Genomics (2014) 0.77
The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations. Am J Med Genet A (2015) 0.76
Vascular type Ehlers-Danlos syndrome is associated with platelet dysfunction and low vitamin D serum concentration. Orphanet J Rare Dis (2016) 0.75
Pathophysiological Significance of Dermatan Sulfate Proteoglycans Revealed by Human Genetic Disorders. Pharmaceuticals (Basel) (2017) 0.75
Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet (2008) 15.51
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. Nat Genet (2006) 5.26
Nosology and classification of genetic skeletal disorders: 2006 revision. Am J Med Genet A (2007) 5.15
Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification. Nat Genet (2003) 4.34
Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A (2011) 4.27
Pharmacogenetics of morphine poisoning in a breastfed neonate of a codeine-prescribed mother. Lancet (2006) 3.72
Improved survival associated with neoadjuvant chemoradiation in patients with clinical stage IIIA(N2) non-small-cell lung cancer. J Thorac Oncol (2013) 3.67
Fibulin-5/DANCE is essential for elastogenesis in vivo. Nature (2002) 3.60
Cast versus splint in children with minimally angulated fractures of the distal radius: a randomized controlled trial. CMAJ (2010) 3.15
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
Human chromosome 7: DNA sequence and biology. Science (2003) 3.02
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nat Genet (2004) 2.94
The burden of orthopaedic disease in developing countries. J Bone Joint Surg Am (2004) 2.89
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
Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. Am J Hum Genet (2010) 2.39
Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome. Hum Mol Genet (2002) 2.33
Serum factors from pseudoxanthoma elasticum patients alter elastic fiber formation in vitro. J Invest Dermatol (2006) 2.27
Anucleate platelets generate progeny. Blood (2010) 2.24
Magnetic resonance imaging pattern recognition in hypomyelinating disorders. Brain (2010) 2.19
Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes. Nat Genet (2008) 2.16
Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity. Nat Genet (2011) 2.16
Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease. N Engl J Med (2016) 2.15
Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. Am J Hum Genet (2003) 2.10
Identification of mutations in CUL7 in 3-M syndrome. Nat Genet (2005) 2.10
Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy. Brain (2013) 2.09
PhenoTips: patient phenotyping software for clinical and research use. Hum Mutat (2013) 2.04
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. Hum Mutat (2008) 2.00
Brain and bone abnormalities of thanatophoric dwarfism. AJR Am J Roentgenol (2009) 1.98
Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Am J Hum Genet (2003) 1.94
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. Am J Hum Genet (2012) 1.93
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan. Nat Genet (2012) 1.90
Maintenance of chondroitin sulfation balance by chondroitin-4-sulfotransferase 1 is required for chondrocyte development and growth factor signaling during cartilage morphogenesis. Development (2005) 1.88
Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis. Am J Hum Genet (2003) 1.86
Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome. Hum Mutat (2010) 1.83
Safety of codeine during breastfeeding: fatal morphine poisoning in the breastfed neonate of a mother prescribed codeine. Can Fam Physician (2007) 1.83
A systematic review of the association between body checking and injury in youth ice hockey. Clin J Sport Med (2009) 1.82
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. Nat Genet (2012) 1.82
Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210. N Engl J Med (2010) 1.81
Two Earth-sized planets orbiting Kepler-20. Nature (2011) 1.79
Fibrinogen is required for maintenance of platelet intracellular and cell-surface P-selectin expression. Blood (2009) 1.79
The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways. PLoS One (2008) 1.76
Kidney transplantation as primary therapy for end-stage renal disease: a National Kidney Foundation/Kidney Disease Outcomes Quality Initiative (NKF/KDOQITM) conference. Clin J Am Soc Nephrol (2008) 1.76
Body-checking rules and childhood injuries in ice hockey. Pediatrics (2006) 1.73
Neurological complications of kernicterus. Can J Neurol Sci (2005) 1.72
Integrin-linked kinase expression is elevated in human cardiac hypertrophy and induces hypertrophy in transgenic mice. Circulation (2006) 1.69
TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in Cousin syndrome. Am J Hum Genet (2008) 1.68
The VPS33B-binding protein VPS16B is required in megakaryocyte and platelet α-granule biogenesis. Blood (2012) 1.67
Platelet-associated complement factor H in healthy persons and patients with atypical HUS. Blood (2009) 1.67
Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2. Am J Med Genet A (2004) 1.66
The Ptolemy project: a scalable model for delivering health information in Africa. BMJ (2003) 1.65
Temporal bone findings on computed tomography imaging in branchio-oto-renal syndrome. Laryngoscope (2005) 1.61
Elastic fibres and vascular structure in hypertension. Pharmacol Ther (2006) 1.58
Polymorphisms and haplotypes of acid mammalian chitinase are associated with bronchial asthma. Am J Respir Crit Care Med (2005) 1.58
A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate. Ann Neurol (2003) 1.57
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Am J Hum Genet (2011) 1.55
Intraoperative low-dose ketamine does not prevent a remifentanil-induced increase in morphine requirement after pediatric scoliosis surgery. Anesth Analg (2008) 1.54
Connection between elastin haploinsufficiency and increased cell proliferation in patients with supravalvular aortic stenosis and Williams-Beuren syndrome. Am J Hum Genet (2002) 1.54
Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. J Bone Miner Res (2011) 1.53
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration. Nat Genet (2012) 1.52
Heightened aberrant deposition of hard-wearing elastin in conduit arteries of prehypertensive SHR is associated with increased stiffness and inward remodeling. Am J Physiol Heart Circ Physiol (2008) 1.52
Requirement of VPS33B, a member of the Sec1/Munc18 protein family, in megakaryocyte and platelet alpha-granule biogenesis. Blood (2005) 1.52
Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients. J Clin Endocrinol Metab (2004) 1.51
Use of atypical antipsychotics during pregnancy and the risk of neural tube defects in infants. Am J Psychiatry (2002) 1.51
Altered gene expression and methylation of the human chromosome 11 imprinted region in small for gestational age (SGA) placentae. Dev Biol (2008) 1.51
The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported. Pediatrics (2006) 1.50
Structure of the YibK methyltransferase from Haemophilus influenzae (HI0766): a cofactor bound at a site formed by a knot. Proteins (2003) 1.50
Temporal bone imaging in GJB2 deafness. Laryngoscope (2006) 1.49
Williams syndrome in a preterm infant with phenotype of Alagille syndrome. Am J Med Genet A (2008) 1.49
Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis. Neurology (2012) 1.48
Is serum procalcitonin a reliable diagnostic marker in children with acute respiratory tract infections? A retrospective analysis. Eur J Pediatr (2008) 1.46
Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia. Am J Hum Genet (2012) 1.46
Expanded CTG repeat demarcates a boundary for abnormal CpG methylation in myotonic dystrophy patient tissues. Hum Mol Genet (2010) 1.46
Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity. Am J Hum Genet (2013) 1.46
Mutations in EZH2 cause Weaver syndrome. Am J Hum Genet (2011) 1.46
Mutations in CEP57 cause mosaic variegated aneuploidy syndrome. Nat Genet (2011) 1.46
Hydrocephalus status in spina bifida: an evaluation of variations in neuropsychological outcomes. J Neurosurg Pediatr (2011) 1.46
Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome. Am J Hum Genet (2004) 1.45
In-depth analysis of hyaline fibromatosis syndrome frameshift mutations at the same site reveal the necessity of personalized therapy. Hum Mutat (2013) 1.45
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
A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype. Hum Mol Genet (2005) 1.43
Improved survival time trends for glioblastoma using the SEER 17 population-based registries. J Neurooncol (2011) 1.42
Coagulation assessment in children with diabetic ketoacidosis. Pediatr Crit Care Med (2013) 1.40
Assessment of the thymus at echocardiography in fetuses at risk for 22q11.2 deletion. Prenat Diagn (2003) 1.39
Alopecia congenita universalis, microcephaly, cutis marmorata, short stature and XY gonadal dysgenesis: variable expression of El-Shanti syndrome. Eur J Pediatr (2003) 1.39