Published in Clin Dysmorphol on October 01, 2006
Review of genetic factors in intestinal malrotation. Pediatr Surg Int (2010) 1.42
Achondroplasia and Biliary Atresia: A Rare Association and Review of Literature. J Pediatr Genet (2017) 0.75
A Newly-Discovered Mutation in the RFX6 Gene of the Rare Mitchell-Riley Syndrome. J Clin Res Pediatr Endocrinol (2015) 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
Pharmacogenetics of morphine poisoning in a breastfed neonate of a codeine-prescribed mother. Lancet (2006) 3.72
Advances in tuberculosis diagnostics: the Xpert MTB/RIF assay and future prospects for a point-of-care test. Lancet Infect Dis (2013) 3.12
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
Whole-body hypothermia for term and near-term newborns with hypoxic-ischemic encephalopathy: a randomized controlled trial. Arch Pediatr Adolesc Med (2011) 2.80
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
Rewarding, stimulant, and sedative alcohol responses and relationship to future binge drinking. Arch Gen Psychiatry (2011) 2.71
Foramen of Morgagni hernia: changes in diagnosis and treatment. Ann Thorac Surg (2004) 2.48
Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome. Hum Mol Genet (2002) 2.33
Nasopharyngeal carcinoma--review of the molecular mechanisms of tumorigenesis. Head Neck (2008) 2.28
Shifting trends in bacterial keratitis in Toronto: an 11-year review. Ophthalmology (2012) 2.27
Multicenter, randomized, comparative cost-effectiveness study comparing 0, 1, and 2 diagnostic medial branch (facet joint nerve) block treatment paradigms before lumbar facet radiofrequency denervation. Anesthesiology (2010) 2.24
Magnetic resonance imaging pattern recognition in hypomyelinating disorders. Brain (2010) 2.19
Drug-resistant tuberculosis: time for visionary political leadership. Lancet Infect Dis (2013) 2.16
Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. Am J Hum Genet (2003) 2.10
Lumbar zygapophysial (facet) joint radiofrequency denervation success as a function of pain relief during diagnostic medial branch blocks: a multicenter analysis. Spine J (2007) 2.10
Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy. Brain (2013) 2.09
Tuberculosis biomarkers discovery: developments, needs, and challenges. Lancet Infect Dis (2013) 2.05
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 ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan. Nat Genet (2012) 1.90
Curcumin structure-function, bioavailability, and efficacy in models of neuroinflammation and Alzheimer's disease. J Pharmacol Exp Ther (2008) 1.86
Maternal outcomes at 2 years after planned cesarean section versus planned vaginal birth for breech presentation at term: the international randomized Term Breech Trial. Am J Obstet Gynecol (2004) 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
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. Nat Genet (2012) 1.82
Neurological complications of kernicterus. Can J Neurol Sci (2005) 1.72
Combined use of subconjunctival and intracorneal bevacizumab injection for corneal neovascularization. Cornea (2011) 1.62
Tuberculosis comorbidity with communicable and non-communicable diseases: integrating health services and control efforts. Lancet Infect Dis (2013) 1.62
Temporal bone findings on computed tomography imaging in branchio-oto-renal syndrome. Laryngoscope (2005) 1.61
Tenascin-X deficiency mimics Ehlers-Danlos syndrome in mice through alteration of collagen deposition. Nat Genet (2002) 1.60
A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate. Ann Neurol (2003) 1.57
Outcomes at 3 months after planned cesarean vs planned vaginal delivery for breech presentation at term: the international randomized Term Breech Trial. JAMA (2002) 1.56
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 the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration. Nat Genet (2012) 1.52
Requirement of VPS33B, a member of the Sec1/Munc18 protein family, in megakaryocyte and platelet alpha-granule biogenesis. Blood (2005) 1.52
Neonatal short bowel syndrome: population-based estimates of incidence and mortality rates. J Pediatr Surg (2004) 1.52
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
Williams syndrome in a preterm infant with phenotype of Alagille syndrome. Am J Med Genet A (2008) 1.49
Temporal bone imaging in GJB2 deafness. Laryngoscope (2006) 1.49
Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis. Neurology (2012) 1.48
Pharmacokinetics in the newborn. Adv Drug Deliv Rev (2003) 1.47
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
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
Patent ductus arteriosus ligation and post-operative hemodynamic instability: case report and framework for enhanced neonatal care. Indian J Pediatr (2010) 1.44
Ontogeny of hepatic and renal systemic clearance pathways in infants: part I. Clin Pharmacokinet (2002) 1.42
Alignment of new tuberculosis drug regimens and drug susceptibility testing: a framework for action. Lancet Infect Dis (2013) 1.39
Impact of oxygen saturation targets and oxygen therapy during the transport of neonates with clinically suspected congenital heart disease. Neonatology (2009) 1.39
Assessment of the thymus at echocardiography in fetuses at risk for 22q11.2 deletion. Prenat Diagn (2003) 1.39
Hazardous course of an end-tidal carbon dioxide catheter in a premature infant. Anesthesiology (2007) 1.37
Prospective study of activities of daily living outcomes in children with cerebellar atrophy. Dev Med Child Neurol (2013) 1.37
Toward an understanding of changes in diversity associated with fecal microbiome transplantation based on 16S rRNA gene deep sequencing. MBio (2012) 1.36
Comparison of cobinamide to hydroxocobalamin in reversing cyanide physiologic effects in rabbits using diffuse optical spectroscopy monitoring. J Biomed Opt (2010) 1.36
Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome. Hum Mol Genet (2013) 1.36
Multiple determinants for selective inhibition of apicomplexan calcium-dependent protein kinase CDPK1. J Med Chem (2012) 1.35
Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation. Epilepsia (2013) 1.35
Fetal rhabdomyoma: prenatal diagnosis, clinical outcome, and incidence of associated tuberous sclerosis complex. J Pediatr (2003) 1.33
Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. Proc Natl Acad Sci U S A (2013) 1.31
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. Hum Mutat (2011) 1.28
Ontogeny of hepatic and renal systemic clearance pathways in infants: part II. Clin Pharmacokinet (2002) 1.28
Neonatologist-performed functional echocardiography in the neonatal intensive care unit. Semin Fetal Neonatal Med (2010) 1.26
Clinical and molecular genetic features of ARC syndrome. Hum Genet (2006) 1.26
A Canadian Working Group report on fecal microbial therapy: microbial ecosystems therapeutics. Can J Gastroenterol (2012) 1.25
Replication inhibitors modulate instability of an expanded trinucleotide repeat at the myotonic dystrophy type 1 disease locus in human cells. Am J Hum Genet (2003) 1.24
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. J Clin Invest (2014) 1.24
Tissue- and age-specific DNA replication patterns at the CTG/CAG-expanded human myotonic dystrophy type 1 locus. Nat Struct Mol Biol (2010) 1.24
Detection of fetal structural abnormalities with US during early pregnancy. Radiographics (2004) 1.23
Impact of sirolimus on the recurrence of hepatocellular carcinoma after liver transplantation. Liver Transpl (2009) 1.22
Neurological complications of cardio-facio-cutaneous syndrome. Dev Med Child Neurol (2007) 1.22
From VACTERL-H to heterotaxy: variable expressivity of ZIC3-related disorders. Am J Med Genet A (2011) 1.21
Atelectasis causes vascular leak and lethal right ventricular failure in uninjured rat lungs. Am J Respir Crit Care Med (2003) 1.20
Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy). Gastroenterology (2010) 1.20
Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome. Neurology (2013) 1.19
Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development. Nat Genet (2013) 1.18
X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum. Am J Med Genet A (2003) 1.18
Fetal cardiomyopathies: pathogenic mechanisms, hemodynamic findings, and clinical outcome. Circulation (2002) 1.18
Evolution of ciprofloxacin-resistant Staphylococcus aureus in in vitro pharmacokinetic environments. Antimicrob Agents Chemother (2004) 1.17
Does echocardiography facilitate determination of hemodynamic significance attributable to the ductus arteriosus? Eur J Pediatr (2009) 1.16
Expanding the utility of the Biphasic Alcohol Effects Scale (BAES) and initial psychometric support for the Brief-BAES (B-BAES). Alcohol Clin Exp Res (2009) 1.15
Neonatal encephalopathy: a prospective comparison of head US and MRI. Pediatr Radiol (2010) 1.15
Tertiary-treated municipal wastewater is a significant point source of antibiotic resistance genes into Duluth-Superior Harbor. Environ Sci Technol (2011) 1.14
Imaging of the brain in full-term neonates: does sonography still play a role? Pediatr Radiol (2006) 1.13
A case series of pediatric primary central nervous system lymphoma: favorable outcome without cranial irradiation. Pediatr Blood Cancer (2006) 1.13
Maternal luteoma of pregnancy presenting with virilization of the female infant. J Obstet Gynaecol Can (2007) 1.12
SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders. Hum Mutat (2005) 1.11
Therapeutic hypercapnia prevents chronic hypoxia-induced pulmonary hypertension in the newborn rat. Am J Physiol Lung Cell Mol Physiol (2006) 1.11
Fetal cardiac tumors: a single-center experience of 40 cases. Prenat Diagn (2010) 1.11
Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: expanding the spectrum of Timothy syndrome. Am J Med Genet A (2011) 1.11