Published in Fetal Diagn Ther on January 01, 2006
Translating clinical research into clinical practice: impact of using prediction rules to make decisions. Ann Intern Med (2006) 5.17
Clinical genetic testing for patients with autism spectrum disorders. Pediatrics (2010) 2.87
Why don't they listen? Adherence to recommendations of infectious disease consultations. Clin Infect Dis (2004) 2.13
Obesity hypoventilation syndrome: prevalence and predictors in patients with obstructive sleep apnea. Sleep Breath (2007) 1.98
Antibiotic resistance: a survey of physician perceptions. Arch Intern Med (2002) 1.91
The impact of evidence on physicians' inpatient treatment decisions. J Gen Intern Med (2004) 1.86
Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation presenting in childhood. Pediatrics (2007) 1.60
A neuroligin-4 missense mutation associated with autism impairs neuroligin-4 folding and endoplasmic reticulum export. J Neurosci (2009) 1.59
Corticotropin tests for hypothalamic-pituitary- adrenal insufficiency: a metaanalysis. J Clin Endocrinol Metab (2008) 1.58
Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination. N Engl J Med (2013) 1.56
Thyroid hormone levels improve the prediction of mortality among patients admitted to the intensive care unit. Intensive Care Med (2005) 1.55
Hormone replacement therapy is associated with less coronary atherosclerosis in postmenopausal women. J Clin Endocrinol Metab (2003) 1.50
Triage of patients with chest pain in the emergency department: a comparative study of physicians' decisions. Am J Med (2002) 1.48
A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction: the t(8;22)(q24.13;q11.21). Am J Hum Genet (2010) 1.30
De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism. Biol Psychiatry (2011) 1.25
Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients. Am J Med Genet A (2007) 1.16
Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin. Am J Hum Genet (2002) 1.16
A de novo balanced translocation breakpoint truncating the autism susceptibility candidate 2 (AUTS2) gene in a patient with autism. Am J Med Genet A (2010) 1.14
Firm-based trial to improve central venous catheter insertion practices. J Hosp Med (2007) 1.13
Evaluating the performance of inpatient attending physicians: a new instrument for today's teaching hospitals. J Gen Intern Med (2004) 1.12
Precise prenatal diagnosis of tuberous sclerosis by sequencing the TSC2 gene. Prenat Diagn (2005) 1.08
Predicting extubation failure after successful completion of a spontaneous breathing trial. Respir Care (2007) 1.08
Diagnostic accuracy of hospitalist-performed hand-carried ultrasound echocardiography after a brief training program. J Hosp Med (2009) 1.07
Updates in the genetic evaluation of the child with global developmental delay or intellectual disability. Semin Pediatr Neurol (2012) 1.06
Paraneoplastic neurological syndromes: unusual presentations of cancer. A practical review. Am J Med Sci (2010) 1.06
Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia. J Med Genet (2011) 1.05
Accuracy of self-monitored blood glucose in type 2 diabetes. Diabetes Technol Ther (2009) 1.04
Impact of a clinical decision rule on hospital triage of patients with suspected acute cardiac ischemia in the emergency department. JAMA (2002) 1.03
The experience of minority faculty who are underrepresented in medicine, at 26 representative U.S. medical schools. Acad Med (2013) 1.00
Prospective cohort study of central venous catheters among internal medicine ward patients. Am J Infect Control (2006) 0.98
Gene sequencing in neonates and infants with the long QT syndrome. Genet Test (2005) 0.97
Subtelomeric rearrangements in idiopathic mental retardation. Indian J Pediatr (2005) 0.96
HIV-infected adults from minority ethnic groups are willing to participate in research if asked. AIDS Patient Care STDS (2009) 0.95
The syndrome of hypoparathyroidism, deafness, and renal anomalies. Endocr Pract (2013) 0.94
The effect of ethnicity on the relationship between premature coronary artery disease and traditional cardiac risk factors among uninsured young adults. Prev Cardiol (2009) 0.93
A large deletion in the CFTR gene in CBAVD. Genet Med (2006) 0.93
Much ado about (doing) nothing. Ann Intern Med (2009) 0.92
Impact of adherence with positive airway pressure therapy on hypercapnia in obstructive sleep apnea. J Clin Sleep Med (2006) 0.90
Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome. Am J Med Genet A (2010) 0.89
Improving asthma self-efficacy: developing and testing a pilot community-based asthma intervention for African American adults. J Allergy Clin Immunol (2009) 0.89
Treatment of difficult-to-control blood pressure in a multidisciplinary clinic at a public hospital. J Natl Med Assoc (2003) 0.89
Sickle Cell Disease. N Engl J Med (2017) 0.88
Connexin-30 deletion analysis in connexin-26 heterozygotes. Genet Test (2003) 0.85
Caring for uninsured patients with diabetes: designing and evaluating a novel chronic care model for diabetes care. J Eval Clin Pract (2010) 0.85
Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia. Am J Hum Genet (2004) 0.85
Constitutional partial 1q trisomy mosaicism and Wilms tumor. Cancer Genet Cytogenet (2005) 0.85
Obesity and lymphocyte subsets in virologically suppressed HIV-infected patients. Metabolism (2009) 0.84
Antibiotic therapy in preterm premature rupture of membranes: Are seven days necessary? A preliminary, randomized clinical trial. Am J Obstet Gynecol (2003) 0.84
Fusion of HMGA2 to COG5 in uterine leiomyoma. Cancer Genet Cytogenet (2010) 0.83
Further delineation of the critical region for the 9p-duplication syndrome. Am J Med Genet A (2009) 0.83
Molecular characterization of the TCP11 gene which is the human homologue of the mouse gene encoding the receptor of fertilization promoting peptide. Mol Hum Reprod (2002) 0.83
CFTR 5T variant has a low penetrance in females that is partially attributable to its haplotype. Genet Med (2006) 0.82
Chromosomal anomalies among the offspring of women with gestational diabetes. Am J Epidemiol (2002) 0.82
A fourteen years follow-up of a case of partial trisomy 12q and monosomy 12p recombinants of a familial pericentric inversion of chromosome 12: clinical, cytogenetic and molecular observations. Eur J Med Genet (2007) 0.82
Analysis by mass spectrometry of 100 cystic fibrosis gene mutations in 92 patients with congenital bilateral absence of the vas deferens. Hum Reprod (2002) 0.82
Folate intake and the risk of neural tube defects: an estimation of dose-response. Epidemiology (2003) 0.82
Fragile X carrier screening and spinocerebellar ataxia in older males. Am J Med Genet A (2004) 0.81
Faculty Vitality-Surviving the Challenges Facing Academic Health Centers: A National Survey of Medical Faculty. Acad Med (2015) 0.81
A family with branchio-oculo-facial syndrome with primarily ocular involvement associated with mutation of the TFAP2A gene. Ophthalmic Genet (2011) 0.81
Delayed puberty due to a novel mutation in CHD7 causing CHARGE syndrome. Pediatrics (2010) 0.80
Teaching cardiac examination skills. A controlled trial of two methods. J Gen Intern Med (2006) 0.80
Medium-firm mattresses reduced pain-related disability more than firm mattresses in chronic, nonspecific low-back pain. ACP J Club (2004) 0.80
Hand-carried echocardiography by hospitalists: a randomized trial. Am J Med (2011) 0.80
Developmental disability and hypomelanosis of Ito in a female with 7.3 Mb de novo duplication of Xp11.3-p11.4 and random X inactivation. Am J Med Genet A (2009) 0.79
Clinical, cytogenetic, and molecular characterization of a girl with some clinical features of Down syndrome resulting from a pure partial trisomy 21q22.11-qter due to a de novo intrachromosomal duplication. Genet Test Mol Biomarkers (2010) 0.79
A de novo complex chromosome rearrangement involving chromosomes 2, 3, 5, 9 and 11 detected prenatally and studied postnatally by conventional cytogenetics and molecular cytogenetic analyses. Fetal Diagn Ther (2007) 0.79
Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism. Am J Med Genet A (2011) 0.79
Autosomal dominant syndrome resembling Coffin-Siris syndrome. Am J Med Genet A (2006) 0.79
Learning by doing: developing fellows' academic skills through collaborative research. Med Teach (2006) 0.78
A complex maternal rearrangement results in a pure 10.8 Mb duplication of the 5q13.1-q14.1 region in an affected son. Am J Med Genet A (2010) 0.78
Respiratory morbidity in well-dated twins approaching term. What are the risks of elective delivery? J Reprod Med (2002) 0.78
Seizure control and side-effect profile after switching adult epileptic patients from standard to extended-release divalproex sodium. Clin Neurol Neurosurg (2009) 0.78
Mosaic Down syndrome in a patient with low-level mosaicism detected by microarray. Am J Med Genet A (2010) 0.78
Ethnic differences predicting ketonuria in patients with Type 2 diabetes. J Diabetes Complications (2005) 0.77
Complete monosomy 21 confirmed by FISH and array-CGH. Am J Med Genet A (2012) 0.77
A Mixed-Methods Study of Pain-related Quality of Life in Sickle Cell Vaso-Occlusive Crises. Hemoglobin (2015) 0.76
Whole gene duplication of the PQBP1 gene in syndrome resembling Renpenning. Am J Med Genet A (2010) 0.76
Subgroup variation in diagnostic test evaluation. Ann Intern Med (2003) 0.75
Assessment of patients with chest pain. Ann Intern Med (2004) 0.75
Hypoxic spinal cord injury and/or abnormality in utero. Pediatr Neurol (2007) 0.75
Mammography and palpable breast abnormalities. Ann Intern Med (2004) 0.75
Chest pain relief by nitroglycerin. Ann Intern Med (2004) 0.75
Interns' work hours. N Engl J Med (2005) 0.75
The patient care circle: a descriptive framework for understanding care transitions. J Hosp Med (2013) 0.75
High Sensitivity C - Reactive Protein is Associated with Diastolic Dysfunction in Young African Americans without Clinically Evident Cardiac Disease. Open Cardiovasc Med J (2011) 0.75
A 14-year follow-up of a case detected prenatally of partial trisomy 13q21.32-qter and monosomy 18q22.3-qter as a result of a maternal complex chromosome rearrangement involving chromosomes 6, 13, and 18. Genet Test Mol Biomarkers (2009) 0.75
Genetic testing and individual rights. Suffolk Univ Law Rev (1993) 0.75
A prospective randomized trial of magnesium sulfate in severe preeclampsia: use of diuresis as a clinical parameter to determine the duration of postpartum therapy. Am J Obstet Gynecol (2005) 0.75
Anemia in general medical inpatients prolongs length of stay and increases 30-day unplanned readmission rate. South Med J (2013) 0.75
The "new" genetics: from research to reality. Suffolk Univ Law Rev (1993) 0.75
Mentoring Faculty: A US National Survey of Its Adequacy and Linkage to Culture in Academic Health Centers. J Contin Educ Health Prof (2015) 0.75
Group Peer Mentoring: An Answer to the Faculty Mentoring Problem? A Successful Program at a Large Academic Department of Medicine. J Contin Educ Health Prof (2015) 0.75
Randomized trial of vitamin B6 for preventing hand-foot syndrome from capecitabine chemotherapy. J Community Support Oncol (2014) 0.75
Abruptio placentae associated with misoprostol use in women with preeclampsia. J Reprod Med (2005) 0.75
A 21 years follow-up of a girl patient with a pseudodicentric bisatellited chromosome 22 associated with partial trisomy 22pter-->22q12.1: clinical, cytogenetic and molecular observations. Eur J Med Genet (2008) 0.75
Increasing Incidence and Unique Clinical Characteristics of Spinning-Induced Rhabdomyolysis. Clin J Sport Med (2016) 0.75
The sentinel hospitalization and the role of palliative care. J Hosp Med (2014) 0.75
Duplication of 11p14.3-p15.1 in a mentally retarded proband and his mother detected by G-banding and confirmed by high-resolution CGH and BAC FISH. Exp Mol Pathol (2006) 0.75