Published in Curr Opin Pediatr on September 14, 2017
Analysis of protein-coding genetic variation in 60,706 humans. Nature (2016) 11.83
Tissue origins and interactions in the mammalian skull vault. Dev Biol (2002) 3.95
Segmental basal cell naevus syndrome caused by an activating mutation in smoothened. Br J Dermatol (2016) 2.56
A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9. Nat Genet (2012) 2.12
Genetic study of nonsyndromic coronal craniosynostosis. Am J Med Genet (1995) 1.88
Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis. Nat Genet (2013) 1.87
Craniosynostosis. Eur J Hum Genet (2011) 1.84
Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis. Nat Genet (2013) 1.82
Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease. Am J Hum Genet (2012) 1.78
Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis. Hum Mol Genet (2006) 1.74
Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis. Pediatrics (2010) 1.73
Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder. JAMA (2015) 1.70
Visualizing the origins of selfish de novo mutations in individual seminiferous tubules of human testes. Proc Natl Acad Sci U S A (2016) 1.44
Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teeth. Am J Hum Genet (2011) 1.17
A novel mutation, Ala315Ser, in FGFR2: a gene-environment interaction leading to craniosynostosis? Eur J Hum Genet (2000) 1.17
The suture provides a niche for mesenchymal stem cells of craniofacial bones. Nat Cell Biol (2015) 1.08
Etiological heterogeneity and clinical characteristics of metopic synostosis: Evidence from a tertiary craniofacial unit. Am J Med Genet A (2010) 1.03
Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling. Am J Hum Genet (2012) 1.02
A Genetic-Pathophysiological Framework for Craniosynostosis. Am J Hum Genet (2015) 1.02
Fetal constraint as a potential risk factor for craniosynostosis. Am J Med Genet A (2010) 1.00
Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation. Hum Mutat (2012) 0.95
Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants. Eur J Hum Genet (2014) 0.95
Bent bone dysplasia syndrome reveals nucleolar activity for FGFR2 in ribosomal DNA transcription. Hum Mol Genet (2014) 0.92
Cellular evidence for selfish spermatogonial selection in aged human testes. Andrology (2013) 0.92
Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles. Elife (2016) 0.92
Regulation of cranial morphogenesis and cell fate at the neural crest-mesoderm boundary by engrailed 1. Development (2012) 0.89
Clinical spectrum and outcomes in families with coronal synostosis and TCF12 mutations. Eur J Hum Genet (2014) 0.88
Craniofacial syndromes and surgery. Plast Reconstr Surg (2013) 0.88
Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis. Am J Hum Genet (2016) 0.87
Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related Craniosynostosis. Hum Mutat (2016) 0.81
Genetic and epigenetic influences of twins on the pathogenesis of craniosynostosis: a meta-analysis. Plast Reconstr Surg (2012) 0.80
Stem cells of the suture mesenchyme in craniofacial bone development, repair and regeneration. Nat Commun (2016) 0.79
TCF12 microdeletion in a 72-year-old woman with intellectual disability. Am J Med Genet A (2015) 0.79
Skull base morphology in fibroblast growth factor receptor type 2-related faciocraniosynostosis: a descriptive analysis. Neurosurgery (2015) 0.78
Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis. Mol Genet Genomic Med (2013) 0.78
Heterozygous mutations in ERF cause syndromic craniosynostosis with multiple suture involvement. Am J Med Genet A (2015) 0.78
Beare-Stevenson syndrome: two new patients, including a novel finding of tracheal cartilaginous sleeve. Am J Med Genet A (2015) 0.77
A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome. Am J Hum Genet (2016) 0.77
Gastrointestinal disorders in Curry-Jones syndrome: Clinical and molecular insights from an affected newborn. Am J Med Genet A (2017) 0.77
Raised intracranial pressure as a result of pansynostosis in a child with Albright's hereditary osteodystrophy. Childs Nerv Syst (2016) 0.77
The ophthalmic sequelae of Pfeiffer syndrome and the long-term visual outcomes after craniofacial surgery. J AAPOS (2016) 0.76
Craniosynostosis and Guanine Nucleotide-binding Protein Alpha Stimulating Mutation: Risk of Bleeding Diathesis and Circulatory Collapse in Patients Undergoing Cranial Vault Reconstruction. J Craniofac Surg (2017) 0.76
Progressive postnatal pansynostosis: an insidious and pernicious form of craniosynostosis. J Neurosurg Pediatr (2015) 0.76
Increase of prevalence of craniosynostosis. J Craniomaxillofac Surg (2016) 0.76
Opinion leaders and evidence-based medicine in craniofacial surgery. J Craniofac Surg (2014) 0.76
Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene. J Med Genet (2016) 0.76
Clinical and radiographic delineation of Bent Bone Dysplasia-FGFR2 type or Bent Bone Dysplasia with Distinctive Clavicles and Angel-shaped Phalanges. Am J Med Genet A (2016) 0.76
X-linked hypophosphatemic rickets and sagittal craniosynostosis: three patients requiring operative cranial expansion: case series and literature review. Childs Nerv Syst (2015) 0.76
Erratum to: A Qualitative Study to Explore the Views and Attitudes towards Prenatal Testing in Adults who Have Muenke Syndrome and their Partners. J Genet Couns (2017) 0.76
Tracheal cartilaginous sleeves in children with syndromic craniosynostosis. Genet Med (2016) 0.76
Diagnostic value of exome and whole genome sequencing in craniosynostosis. J Med Genet (2016) 0.76
Mutation Screening of Candidate Genes in Patients with Nonsyndromic Sagittal Craniosynostosis. Plast Reconstr Surg (2016) 0.76
Insights into the development of molecular therapies for craniosynostosis. Neurosurg Focus (2015) 0.76
Hypophosphatasia. Curr Osteoporos Rep (2016) 0.76
Genetic analysis of Runx2 function during intramembranous ossification. Development (2015) 0.76
FGFR-associated craniosynostosis syndromes and gastrointestinal defects. Am J Med Genet A (2016) 0.76
Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor. Front Physiol (2017) 0.76
Gonadal mosaicism and non-invasive prenatal diagnosis for "reassurance" in sporadic paternal age effect (PAE) disorders. Prenat Diagn (2017) 0.76
Expansion of the variable expression of Muenke syndrome: Hydrocephalus without craniosynostosis. Am J Med Genet A (2016) 0.76
Genetic advances in craniosynostosis. Am J Med Genet A (2017) 0.76
Muenke syndrome: An international multicenter natural history study. Am J Med Genet A (2016) 0.75
International association for the study of lung cancer/american thoracic society/european respiratory society international multidisciplinary classification of lung adenocarcinoma. J Thorac Oncol (2011) 21.49
Screening and surveillance for the early detection of colorectal cancer and adenomatous polyps, 2008: a joint guideline from the American Cancer Society, the US Multi-Society Task Force on Colorectal Cancer, and the American College of Radiology. Gastroenterology (2008) 15.86
Colorectal cancer screening and surveillance: clinical guidelines and rationale-Update based on new evidence. Gastroenterology (2003) 14.67
The genome of the African trypanosome Trypanosoma brucei. Science (2005) 11.48
Vinorelbine plus cisplatin vs. observation in resected non-small-cell lung cancer. N Engl J Med (2005) 10.58
The American Board of Internal Medicine: evolving professional self-regulation. Ann Intern Med (2014) 7.65
The DNA sequence of the human X chromosome. Nature (2005) 6.97
Literature Review of Florida Red Tide: Implications for Human Health Effects. Harmful Algae (2004) 5.00
Lopinavir-ritonavir versus nelfinavir for the initial treatment of HIV infection. N Engl J Med (2002) 4.89
Guidelines for colonoscopy surveillance after polypectomy: a consensus update by the US Multi-Society Task Force on Colorectal Cancer and the American Cancer Society. Gastroenterology (2006) 4.57
Initial evaluation of the effects of aerosolized Florida red tide toxins (brevetoxins) in persons with asthma. Environ Health Perspect (2005) 3.38
The preoperative incidence of raised intracranial pressure in nonsyndromic sagittal craniosynostosis is underestimated in the literature. J Neurosurg Pediatr (2014) 3.30
Occupational exposure to aerosolized brevetoxins during Florida red tide events: effects on a healthy worker population. Environ Health Perspect (2005) 3.27
Guidelines for colonoscopy surveillance after polypectomy: a consensus update by the US Multi-Society Task Force on Colorectal Cancer and the American Cancer Society. CA Cancer J Clin (2006) 3.21
Prospective multicenter study of eligibility for antiviral therapy among 4,084 U.S. veterans with chronic hepatitis C virus infection. Am J Gastroenterol (2005) 3.09
Cost analysis of ongoing care of patients with end-stage renal disease: the impact of dialysis modality and dialysis access. Am J Kidney Dis (2002) 3.06
Crystal structure of the cytoskeleton-associated protein glycine-rich (CAP-Gly) domain. J Biol Chem (2002) 3.01
Steroids and bronchodilators for acute bronchiolitis in the first two years of life: systematic review and meta-analysis. BMJ (2011) 3.00
Ultralow thermal conductivity in disordered, layered WSe2 crystals. Science (2006) 2.79
An economic evaluation of activated protein C treatment for severe sepsis. N Engl J Med (2002) 2.69
Does telephone triage delay significant medical treatment?: Advice nurse service vs on-call pediatricians. Arch Pediatr Adolesc Med (2003) 2.25
Caller satisfaction with after-hours telephone advice: nurse advice service versus on-call pediatricians. Pediatrics (2002) 2.24
The incidence of raised intracranial pressure in nonsyndromic sagittal craniosynostosis following primary surgery. J Neurosurg Pediatr (2015) 2.20
Cost of acute renal failure requiring dialysis in the intensive care unit: clinical and resource implications of renal recovery. Crit Care Med (2003) 2.13
A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9. Nat Genet (2012) 2.12
A role for IL-25 and IL-33-driven type-2 innate lymphoid cells in atopic dermatitis. J Exp Med (2013) 2.11
Core competencies in the science and practice of knowledge translation: description of a Canadian strategic training initiative. Implement Sci (2011) 2.09
Effect of a rapid response system for patients in shock on time to treatment and mortality during 5 years. Crit Care Med (2007) 2.04
Nicotinic acid limitation regulates silencing of Candida adhesins during UTI. Science (2005) 2.03
Low salivary cortisol levels and externalizing behavior problems in youth. Dev Psychopathol (2005) 2.01
Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. Proc Natl Acad Sci U S A (2004) 2.01
Improved fecal DNA test for colorectal cancer screening. Clin Gastroenterol Hepatol (2006) 1.99
Global perspectives for prevention of infectious diseases associated with mass gatherings. Lancet Infect Dis (2012) 1.99
Guidelines for colonoscopy surveillance after cancer resection: a consensus update by the American Cancer Society and the US Multi-Society Task Force on Colorectal Cancer. Gastroenterology (2006) 1.89
Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. Am J Hum Genet (2002) 1.88
Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis. Nat Genet (2013) 1.87
Glycan receptor binding of the influenza A virus H7N9 hemagglutinin. Cell (2013) 1.84
Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis. Nat Genet (2013) 1.82
Root traits predict decomposition across a landscape-scale grazing experiment. New Phytol (2014) 1.80
Hot flashes and related outcomes in breast cancer survivors and matched comparison women. Oncol Nurs Forum (2002) 1.76
Taking a Toll on human disease: Toll-like receptor 4 agonists as vaccine adjuvants and monotherapeutic agents. Expert Opin Biol Ther (2004) 1.76
Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis. Hum Mol Genet (2006) 1.74
Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis. Pediatrics (2010) 1.73
RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity. Am J Hum Genet (2007) 1.72
Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review. Plast Reconstr Surg (2009) 1.68
Adequacy of early empiric antibiotic treatment and survival in severe sepsis: experience from the MONARCS trial. Clin Infect Dis (2003) 1.67
Benefits of off-pump bypass on neurologic and clinical morbidity: a prospective randomized trial. Ann Thorac Surg (2003) 1.67
Compliance with post-operative adjuvant chemotherapy in non-small cell lung cancer. An analysis of National Cancer Institute of Canada and intergroup trial JBR.10 and a review of the literature. Lung Cancer (2005) 1.65
A risk variant in an miR-125b binding site in BMPR1B is associated with breast cancer pathogenesis. Cancer Res (2009) 1.64
International multicenter investigation of LB20304, a new fluoronaphthyridone. Clin Microbiol Infect (1998) 1.60
Tolevamer, a novel nonantibiotic polymer, compared with vancomycin in the treatment of mild to moderately severe Clostridium difficile-associated diarrhea. Clin Infect Dis (2006) 1.59
Late neurologic and cognitive sequelae of inflicted traumatic brain injury in infancy. Pediatrics (2005) 1.59
Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene. Am J Hum Genet (2009) 1.57
Sexual dysfunction in women with ESRD requiring hemodialysis. Clin J Am Soc Nephrol (2012) 1.56
Shiga Toxin-Producing Escherichia coli Infection, Antibiotics, and Risk of Developing Hemolytic Uremic Syndrome: A Meta-analysis. Clin Infect Dis (2016) 1.53
Health service costs for patients on the waiting list. Can J Surg (2002) 1.52
Massive levothyroxine ingestion in a pediatric patient: case report and discussion. CJEM (2011) 1.48
Assessing the risk of laboratory-acquired meningococcal disease. J Clin Microbiol (2005) 1.47
Wilderness Medical Society Roundtable Report. Recommendations on the use of epinephrine in outdoor education and wilderness settings. Wilderness Environ Med (2010) 1.40
Genomic variation in myeloma: design, content, and initial application of the Bank On A Cure SNP Panel to detect associations with progression-free survival. BMC Med (2008) 1.40
A simplified, noninvasive stool DNA test for colorectal cancer detection. Am J Gastroenterol (2008) 1.40
A multidisciplinary community hospital program for early and rapid resuscitation of shock in nontrauma patients. Chest (2005) 1.39
Catheter-related interventions to prevent peritonitis in peritoneal dialysis: a systematic review of randomized, controlled trials. J Am Soc Nephrol (2004) 1.37
Underground signals carried through common mycelial networks warn neighbouring plants of aphid attack. Ecol Lett (2013) 1.37
Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogonia. Proc Natl Acad Sci U S A (2005) 1.35
Guidelines for colonoscopy surveillance after cancer resection: a consensus update by the American Cancer Society and US Multi-Society Task Force on Colorectal Cancer. CA Cancer J Clin (2006) 1.33
Overexpression of the low molecular weight cyclin E in transgenic mice induces metastatic mammary carcinomas through the disruption of the ARF-p53 pathway. Cancer Res (2007) 1.32
High-throughput expression of C. elegans proteins. Genome Res (2004) 1.32
Reaction to a dementia diagnosis in individuals with Alzheimer's disease and mild cognitive impairment. J Am Geriatr Soc (2008) 1.31
Parental and health care provider understanding of childhood fever: a Canadian perspective. CJEM (2002) 1.31
Clinical dividends from the molecular genetic diagnosis of craniosynostosis. Am J Med Genet A (2007) 1.31
Clinical definitions of pertussis: Summary of a Global Pertussis Initiative roundtable meeting, February 2011. Clin Infect Dis (2012) 1.29
Racial and geographic issues in gastroesophageal reflux disease. Am J Gastroenterol (2008) 1.28
Steel dust in the New York City subway system as a source of manganese, chromium, and iron exposures for transit workers. J Urban Health (2005) 1.26
Cell surface major histocompatibility complex class II proteins are regulated by the products of the gamma(1)34.5 and U(L)41 genes of herpes simplex virus 1. J Virol (2002) 1.25
Is the declining use of long-term peritoneal dialysis justified by outcome data? Clin J Am Soc Nephrol (2007) 1.24
The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males. Am J Hum Genet (2006) 1.22
An assessment of the management of acute bleeding varices: a multicenter prospective member-based study. Am J Gastroenterol (2003) 1.22
Detailed cost analysis of care for survivors of severe sepsis. Crit Care Med (2004) 1.19
Online professionalism investigations by state medical boards: first, do no harm. Ann Intern Med (2013) 1.18
Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teeth. Am J Hum Genet (2011) 1.17
Cross-sectional and longitudinal association between antihypertensive medications and cognitive impairment in an elderly population. J Gerontol A Biol Sci Med Sci (2005) 1.13
A review of medical imaging informatics. Ann N Y Acad Sci (2002) 1.12
Acute myocardial infarction in Alberta: temporal changes in outcomes, 1994 to 1999. Can J Cardiol (2004) 1.12
Transgenic mitochondrial superoxide dismutase and mitochondrially targeted catalase prevent antiretroviral-induced oxidative stress and cardiomyopathy. Lab Invest (2009) 1.11
Craniosynostosis: a radiological and surgical perspective. Semin Ultrasound CT MR (2009) 1.10
Solid and papillary epithelial neoplasm of the pancreas. J Surg Oncol (2004) 1.08
Parental allografts in the management of Adams-Oliver syndrome. Childs Nerv Syst (2013) 1.07
Hearing loss in a mouse model of Muenke syndrome. Hum Mol Genet (2008) 1.07
Oscillatory transepithelial H(+) flux regulates a rhythmic behavior in C. elegans. Curr Biol (2008) 1.06
Workflow management of HIS/RIS textual documents with PACS image studies for neuroradiology. AMIA Annu Symp Proc (2003) 1.05
The family physician and the public health perspective: Opportunities for improved health of family practice patient populations. Can Fam Physician (2009) 1.04
Etiological heterogeneity and clinical characteristics of metopic synostosis: Evidence from a tertiary craniofacial unit. Am J Med Genet A (2010) 1.03