Published in Am J Med Genet A on May 12, 2011
A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1. Am J Med Genet A (2012) 1.62
Exome sequencing identifies recurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas. Nat Genet (2015) 1.24
Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations? Hum Genomics (2012) 1.02
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas. Eur J Hum Genet (2014) 1.00
RASopathy Gene Mutations in Melanoma. J Invest Dermatol (2016) 0.76
Fabry's disease. Lancet (2008) 2.89
Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol Genet Metab (2007) 2.51
GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region. Am J Med Genet A (2003) 1.94
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. Hum Mutat (2010) 1.88
Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genet Med (2006) 1.87
Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency. J Clin Endocrinol Metab (2011) 1.67
Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa. Mol Genet Metab (2012) 1.58
Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping. Hum Genet (2009) 1.46
Variable expression of neurofibromatosis 1 in monozygotic twins. Am J Med Genet A (2011) 1.45
Enzyme therapy for lysosomal storage disease: principles, practice, and prospects. Annu Rev Genomics Hum Genet (2003) 1.36
Blood expression profiles for tuberous sclerosis complex 2, neurofibromatosis type 1, and Down's syndrome. Ann Neurol (2004) 1.25
Prenatal MRI findings of fetuses with congenital high airway obstruction sequence. Korean J Radiol (2009) 1.20
Biochemical diagnosis of Antley-Bixler syndrome by steroid analysis. Am J Med Genet A (2004) 1.19
Agalsidase beta treatment is associated with improved quality of life in patients with Fabry disease: findings from the Fabry Registry. Genet Med (2010) 1.17
Common and recurrent HPGD mutations in Caucasian individuals with primary hypertrophic osteoarthropathy. Rheumatology (Oxford) (2010) 1.17
Cleidocranial dysplasia with severe parietal bone dysplasia: C-terminal RUNX2 mutations. Birth Defects Res A Clin Mol Teratol (2006) 1.12
Social, emotional, and behavioral functioning of children with NF1. Am J Med Genet A (2007) 1.11
Neurofibromatosis update. J Pediatr Orthop (2006) 1.10
Human blood genomics: distinct profiles for gender, age and neurofibromatosis type 1. Brain Res Mol Brain Res (2004) 1.08
Enzyme reconstitution/replacement therapy for lysosomal storage diseases. Curr Opin Pediatr (2007) 1.08
Combination of diaphragmatic eventration and microphthalmia/anophthalmia is probably nonrandom. Am J Med Genet (2002) 1.07
Undetectable maternal serum uE3 and postnatal abnormal sterol and steroid metabolism in Antley-Bixler syndrome. Am J Med Genet A (2004) 1.03
Brief report: autistic symptoms, developmental regression, mental retardation, epilepsy, and dyskinesias in CNS folate deficiency. J Autism Dev Disord (2007) 1.03
Pediatric plexiform neurofibromas: impact on morbidity and mortality in neurofibromatosis type 1. J Pediatr (2011) 1.02
Skeletal abnormalities in neurofibromatosis type 1: approaches to therapeutic options. Am J Med Genet A (2009) 1.00
The immature spine in type-1 neurofibromatosis. J Bone Joint Surg Am (2007) 0.99
Acute progression of neuromuscular findings in infantile Pompe disease. Pediatr Neurol (2010) 0.94
Left ventricular T2 distribution in Duchenne muscular dystrophy. J Cardiovasc Magn Reson (2010) 0.93
Upper airway malformation associated with partial trisomy 11q. Am J Med Genet A (2003) 0.93
Renal complications of Fabry disease in children. Pediatr Nephrol (2012) 0.93
Epidemiology of hemimegalencephaly: a case series and review. Am J Med Genet A (2005) 0.92
Parental distress, family functioning, and social support in families with and without a child with neurofibromatosis 1. J Pediatr Psychol (2007) 0.91
Posterior fossa anomalies diagnosed with fetal MRI: associated anomalies and neurodevelopmental outcomes. Prenat Diagn (2012) 0.90
Novel fibrillin 1 mutation in a case of neonatal Marfan syndrome: the increasing importance of early recognition. Congenit Heart Dis (2008) 0.89
Characterization of congenital anomalies in individuals with choanal atresia. Arch Otolaryngol Head Neck Surg (2009) 0.89
Temporal bone abnormalities associated with hearing loss in Waardenburg syndrome. Laryngoscope (2003) 0.89
De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes. Hum Mutat (2015) 0.87
Determinants of early identification of suicidal ideation in patients treated with antidepressants or anxiolytics in general practice: a multilevel analysis. J Affect Disord (2006) 0.87
Gene expression analysis identifies potential biomarkers of neurofibromatosis type 1 including adrenomedullin. Clin Cancer Res (2010) 0.86
Media coverage of direct-to-consumer genetic testing. J Genet Couns (2011) 0.86
Approaches to treating NF1 tibial pseudarthrosis: consensus from the Children's Tumor Foundation NF1 Bone Abnormalities Consortium. J Pediatr Orthop (2013) 0.86
Deletion of 14-3-3{varepsilon} and CRK: a clinical syndrome with macrocephaly, developmental delay, and generalized epilepsy. J Child Neurol (2010) 0.85
Exercise tolerance and thermoregulatory responses during cycling in boys and men. Med Sci Sports Exerc (2008) 0.85
Back to the future: proceedings from the 2010 NF Conference. Am J Med Genet A (2010) 0.84
Genetic analyses in two extended families with deletion 22q11 syndrome: importance of extracardiac manifestations. J Pediatr (2005) 0.84
Determinants of coprescription of anxiolytics with antidepressants in general practice. Can J Psychiatry (2008) 0.84
Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors. J Genet Couns (2013) 0.84
Does the presence of dystrophic features in patients with type 1 neurofibromatosis and spinal deformities increase the risk of surgery? Spine (Phila Pa 1976) (2013) 0.84
Variability in laboratory reporting practices for regions of homozygosity indicating parental relatedness as identified by SNP microarray testing. Genet Med (2012) 0.83
A girl with partial trisomy 12q24.31 inherited from her father and a possible novel syndrome transmitted from her mother. Am J Med Genet A (2005) 0.83
Ventricular noncompaction and absent thumbs in a newborn with tetrasomy 5q35.2-5q35.3: an association with Hunter-McAlpine syndrome? Am J Med Genet A (2011) 0.83
Variable approaches to genetic counseling for microarray regions of homozygosity associated with parental relatedness. Am J Med Genet A (2013) 0.83
Experience with hemihyperplasia and Beckwith-Wiedemann syndrome surveillance protocol. Am J Med Genet A (2009) 0.82
Persistent congenital hyperinsulinism in two patients with Beckwith-Wiedemann syndrome due to mosaic uniparental disomy 11p. J Pediatr Endocrinol Metab (2014) 0.82
DiGeorge anomaly in the absence of chromosome 22q11.2 deletion. J Pediatr (2009) 0.81
Genetic service providers' practices and attitudes regarding adolescent genetic testing for carrier status. Genet Med (2007) 0.81
Patient-reported outcomes in neurofibromatosis and schwannomatosis clinical trials. Neurology (2013) 0.81
Variable presentation between a mother and a fetus with Goltz syndrome. Prenat Diagn (2013) 0.81
Comparison of health-related quality of life between heterozygous women with Fabry disease, a healthy control population, and patients with other chronic disease. Genet Med (2006) 0.80
Perception of disease severity in adolescents diagnosed with neurofibromatosis type 1. J Adolesc Health (2004) 0.80
A new case of de novo 11q duplication in a patient with normal development and intelligence and review of the literature. Am J Med Genet A (2007) 0.80
Severe cervical scoliosis in the fetus. Prenat Diagn (2011) 0.80
The use of anterolateral bowing of the lower leg in the diagnostic criteria for neurofibromatosis type 1. Genet Med (2007) 0.80
Aspiration in children with CHARGE syndrome. Int J Pediatr Otorhinolaryngol (2005) 0.80
A teenager with Marfan syndrome and left ventricular noncompaction. Pediatr Cardiol (2009) 0.80
A case of minimal change disease in a Fabry patient. Pediatr Nephrol (2009) 0.79
Evaluation of growth in patients with isolated cleft lip and/or cleft palate. Pediatrics (2010) 0.79
Non-lethal congenital hypotonia due to glycogen storage disease type IV. Am J Med Genet A (2006) 0.79
Use of the term "Antley-Bixler syndrome": minimizing confusion. Am J Hum Genet (2005) 0.79
Predictive value of fetal lung volume in prenatally diagnosed skeletal dysplasia. Prenat Diagn (2014) 0.78
Genetic causes of macroglossia: diagnostic approach. Pediatrics (2012) 0.78
Concurrent course of transient neonatal diabetes with cholestasis and paucity of interlobular bile ducts: a case report. Pediatr Dev Pathol (2009) 0.78
Another patient with chromosome 18 deletion syndrome and juvenile rheumatoid arthritis. J Rheumatol (2004) 0.78
Fractures in children with neurofibromatosis type 1 from two NF clinics. Am J Med Genet A (2013) 0.77
Long-term survival in a patient with del(18)(q12.2q21.1). Am J Med Genet A (2003) 0.77
Tetrasomy 15q25.2→qter identified with SNP microarray in a patient with multiple anomalies including complex cardiovascular malformation. Am J Med Genet A (2012) 0.76
Keutel syndrome: report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis. Am J Med Genet A (2014) 0.76
Radioulnar Synostosis and Brain Abnormalities in a Patient With 17q21.31 Microdeletion Involving EFTUD2. Cleft Palate Craniofac J (2014) 0.76
A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasia. Am J Med Genet A (2014) 0.76
Molecular and cytogenetic evaluation of a patient with ring chromosome 13 and discordant results. Cytogenet Genome Res (2014) 0.76
Unexpected survival in a case of prenatally diagnosed non-mosaic trisomy 22: Clinical report and review of the natural history. Am J Med Genet A (2003) 0.76
Development of a web-based genetics institute for a nursing audience. J Contin Educ Nurs (2004) 0.76
Severe neonatal presentation of Kleefstra syndrome in a patient with hypoplastic left heart syndrome and 9q34.3 microdeletion. Birth Defects Res A Clin Mol Teratol (2014) 0.76
Cognitive function in adults aging with fabry disease: a case-control feasibility study using telephone-based assessments. JIMD Rep (2015) 0.75
Early-lethal Costello syndrome due to rare HRAS Tandem Base substitution (c.35_36GC>AA; p.G12E)-associated pulmonary vascular disease. Pediatr Dev Pathol (2014) 0.75
Severe micrognathia: indications for EXIT-to-Airway. Fetal Diagn Ther (2009) 0.75
Impact of aortic aneurysm on hospitalizations in patients with marfan syndrome: a multi-institutional study. Pediatr Cardiol (2014) 0.75
Early spinal cord and brainstem involvement in infantile Leigh syndrome possibly caused by a novel variant. J Child Neurol (2012) 0.75
Lessons from a pair of siblings with BPAN. Eur J Hum Genet (2016) 0.75
Outcomes of a genetics education program for nursing faculty. Nurs Educ Perspect (2003) 0.75
Twin-twin transfusion resulting in fetal cell contamination in Beckwith-Wiedemann syndrome. Am J Med Genet A (2009) 0.75