Published in Am J Med Genet A on May 05, 2011
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease. Hum Genet (2013) 2.44
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
Next-generation sequencing identifies rare variants associated with Noonan syndrome. Proc Natl Acad Sci U S A (2014) 1.17
Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis. Am J Med Genet A (2013) 1.05
Comprehensive massive parallel DNA sequencing strategy for the genetic diagnosis of the neuro-cardio-facio-cutaneous syndromes. Eur J Hum Genet (2014) 0.83
RAS Proteins and Their Regulators in Human Disease. Cell (2017) 0.75
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nat Genet (2004) 2.94
Environmental tobacco smoke and risk of spontaneous abortion. Epidemiology (2006) 2.51
Systematic review: family history in risk assessment for common diseases. Ann Intern Med (2009) 1.70
The face signature of fibrodysplasia ossificans progressiva. Am J Med Genet A (2012) 1.62
Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3. Am J Hum Genet (2003) 1.61
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. Am J Med Genet A (2015) 1.60
Citizens' values regarding research with stored samples from newborn screening in Canada. Pediatrics (2012) 1.48
Growth hormone dose-dependent pubertal growth: a randomized trial in short children with low growth hormone secretion. Horm Res Paediatr (2014) 1.47
Collection and use of cancer family history in primary care. Evid Rep Technol Assess (Full Rep) (2007) 1.46
Antitissue transglutaminase and antithyroid autoantibodies in children with Down syndrome and celiac disease. J Pediatr Gastroenterol Nutr (2005) 1.44
The current state of cancer family history collection tools in primary care: a systematic review. Genet Med (2009) 1.42
fMRI for vegetative and minimally conscious states. BMJ (2012) 1.39
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome. Am J Hum Genet (2012) 1.32
Clinical variability of the 22q11.2 duplication syndrome. Eur J Med Genet (2008) 1.29
FISH-mapping of a 100-kb terminal 22q13 deletion. Hum Genet (2002) 1.27
International trends of Down syndrome 1993-2004: Births in relation to maternal age and terminations of pregnancies. Birth Defects Res A Clin Mol Teratol (2010) 1.22
Understanding sickle cell carrier status identified through newborn screening: a qualitative study. Eur J Hum Genet (2009) 1.22
Subtelomeric rearrangements detected in patients with idiopathic mental retardation. Am J Med Genet (2002) 1.18
Frequency of holoprosencephaly in the International Clearinghouse Birth Defects Surveillance Systems: searching for population variations. Birth Defects Res A Clin Mol Teratol (2008) 1.18
Family history and improving health. Evid Rep Technol Assess (Full Rep) (2009) 1.17
Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review. Am J Med Genet (2002) 1.17
Transverse myelitis as the first manifestation of systemic lupus erythematosus or lupus-like disease: good functional outcome and relevance of antiphospholipid antibodies. J Rheumatol (2004) 1.16
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database. Hum Mutat (2012) 1.15
Long-term survival in children with atrioventricular septal defect and common atrioventricular valvar orifice in Sweden. Cardiol Young (2004) 1.14
Clinical and molecular characterization of individuals with 18p deletion: a genotype-phenotype correlation. Am J Med Genet A (2006) 1.13
Dose-dependent effect of growth hormone on final height in children with short stature without growth hormone deficiency. J Clin Endocrinol Metab (2008) 1.11
SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome. J Med Genet (2007) 1.08
Cardio-facio-cutaneous syndrome: does genotype predict phenotype? Am J Med Genet C Semin Med Genet (2011) 1.08
The contribution of genes involved in potassium-recycling in the inner ear to noise-induced hearing loss. Hum Mutat (2006) 1.07
A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins. Acta Paediatr (2008) 1.05
1024C> T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family. Eur J Hum Genet (2004) 1.03
Changes in mortality and causes of death in the Swedish Down syndrome population. Am J Med Genet A (2013) 1.01
GenetiKit: a randomized controlled trial to enhance delivery of genetics services by family physicians. Fam Pract (2011) 1.01
Association between variations in CAT and noise-induced hearing loss in two independent noise-exposed populations. Hum Mol Genet (2007) 1.01
The primary care physician role in cancer genetics: a qualitative study of patient experience. Fam Pract (2010) 0.98
Anterior segment abnormalities and angle-closure glaucoma in a family with a mutation in the BEST1 gene and Best vitelliform macular dystrophy. Ophthalmic Genet (2011) 0.97
Growth hormone treatment in 35 prepubertal children with achondroplasia: a five-year dose-response trial. Acta Paediatr (2005) 0.97
Informing parents about expanded newborn screening: influences on provider involvement. Pediatrics (2009) 0.97
MLGA--a rapid and cost-efficient assay for gene copy-number analysis. Nucleic Acids Res (2007) 0.97
Increase in beta-amyloid levels in cerebrospinal fluid of children with Down syndrome. Dement Geriatr Cogn Disord (2007) 0.96
Spondylocarpotarsal synostosis with epiphyseal dysplasia. Am J Med Genet (2002) 0.96
Chromosomal anomalies in first-trimester miscarriages. Acta Obstet Gynecol Scand (2005) 0.96
Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype. Am J Hum Genet (2011) 0.96
Dissociable endogenous and exogenous attention in disorders of consciousness. Neuroimage Clin (2013) 0.96
Health-care providers' views on pursuing reproductive benefit through newborn screening: the case of sickle cell disorders. Eur J Hum Genet (2011) 0.95
Chimerism resulting from parthenogenetic activation and dispermic fertilization. Am J Med Genet A (2010) 0.94
Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome. Eur J Hum Genet (2008) 0.94
Variations in HSP70 genes associated with noise-induced hearing loss in two independent populations. Eur J Hum Genet (2008) 0.93
Hereditary breast and ovarian cancers. Can Fam Physician (2008) 0.92
Clinical utility of cancer family history collection in primary care. Evid Rep Technol Assess (Full Rep) (2009) 0.91
Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11. Eur J Hum Genet (2011) 0.91
Traumatic brain injury in adults. Pract Neurol (2013) 0.91
The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth. Eur J Hum Genet (2011) 0.90
The influence of genetic variation in oxidative stress genes on human noise susceptibility. Hear Res (2005) 0.90
The diagnosis of Costello syndrome: nomenclature in Ras/MAPK pathway disorders. Am J Med Genet A (2008) 0.88
Information and knowledge about Down syndrome among women and partners after first trimester combined testing. Acta Obstet Gynecol Scand (2015) 0.87
Development and validation of a brief screening instrument for psychosocial risk associated with genetic testing: a pan-Canadian cohort study. BMJ Open (2013) 0.87
Expectations and values about expanded newborn screening: a public engagement study. Health Expect (2013) 0.86
De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature. Eur J Med Genet (2012) 0.85
A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features. Eur J Med Genet (2012) 0.85
Morphological and functional changes in multifocal vitelliform retinopathy and biallelic mutations in BEST1. Ophthalmic Genet (2010) 0.84
Assessing residual reasoning ability in overtly non-communicative patients using fMRI. Neuroimage Clin (2012) 0.84
Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata. Am J Med Genet A (2008) 0.83
Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-Noonan syndrome. Am J Med Genet A (2013) 0.82
Duplication 16q12.1-q22.1 characterized by array CGH in a girl with spina bifida. Eur J Med Genet (2007) 0.81
Investigation of gene dosage imbalances in patients with Noonan syndrome using multiplex ligation-dependent probe amplification analysis. Eur J Med Genet (2010) 0.81
Growth dependence on insulin-like growth factor-1 during the ketogenic diet. Epilepsia (2008) 0.80
Apparent transmission distortion of a pericentric chromosome one inversion in a large multi-generation pedigree. Am J Med Genet A (2012) 0.80
Molecular genetic analysis of a de novo balanced translocation t(6;17)(p21.31;q11.2) associated with hypospadias and anorectal malformation. Hum Genet (2006) 0.80
Opposite effects on facial morphology due to gene dosage sensitivity. Hum Genet (2014) 0.79
[Children and adolescents with Down syndrome. Continuous ophthalmological monitoring crucial!]. Lakartidningen (2002) 0.79
Linkage analysis identifies the thyroglobulin gene region as a major locus for familial congenital hypothyroidism. Hum Genet (2002) 0.79
Trisomy 4q syndrome: presentation of a new case and review of the literature. Ann Genet (2002) 0.79
RAR-related orphan receptor A isoform 1 (RORa1) is disrupted by a balanced translocation t(4;15)(q22.3;q21.3) associated with severe obesity. Eur J Hum Genet (2005) 0.79
The first Noonan syndrome gene: PTPN11, which encodes the protein tyrosine phosphatase SHP-2. Pediatr Res (2002) 0.78
Growth charts and long-term sequelae in extreme preterm infants--from full-term age to 10 years. Acta Paediatr (2014) 0.77
Growth hormone treatment in Aarskog syndrome: analysis of the KIGS (Pharmacia International Growth Database) data. J Pediatr Endocrinol Metab (2003) 0.77
Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis. Am J Med Genet A (2012) 0.77
Autoantibodies linked to autoimmune polyendocrine syndrome type I are prevalent in Down syndrome. Acta Paediatr (2006) 0.77
Genotype-phenotype analysis of 18q12.1-q12.2 copy number variation in autism. Eur J Med Genet (2013) 0.77
Insulin-like growth factor binding protein-1 and interleukin-6 are markers of fetal stress during parturition at term gestation. J Pediatr Endocrinol Metab (2005) 0.76
'Congenital' nystagmus may hide various ophthalmic diagnoses. Acta Ophthalmol (2013) 0.76
Genetics: prostate cancer. Can Fam Physician (2009) 0.75
Primary care role in expanded newborn screening: After the heel prick test. Can Fam Physician (2013) 0.75
Distal phalangeal creases: More evidence of this feature in disorders of the Ras signaling pathway. Eur J Med Genet (2007) 0.75
Maternal age-based prenatal screening for chromosomal disorders: attitudes of women and health care providers toward changes. Can Fam Physician (2013) 0.75
Genetics: familial melanoma. Can Fam Physician (2010) 0.75
Genetics: factor V Leiden. Can Fam Physician (2010) 0.75
Omitting control biopsy in paediatric coeliac disease: a follow-up study. Acta Paediatr (2007) 0.75
[A child's growth mirrors health and illness. Regular measurement of body height is an important diagnostic tool]. Lakartidningen (2002) 0.75
Genetics: hereditary hemochromatosis. Can Fam Physician (2009) 0.75
Genetics: Preimplantation genetic diagnosis. Can Fam Physician (2010) 0.75
Unbalanced translocation 9;16 in two children with dysmorphic features, and severe developmental delay: Evidence of cross-over within derivative chromosome 9 in patient #1. Eur J Med Genet (2010) 0.75
[Better support to first-time parents of children with life-long functional disabilities. Proposal to new guidelines]. Lakartidningen (2010) 0.75
Severe psychomotor retardation in a boy with a supernumerary derivative chromosome resulting in partial trisomy 21 and partial trisomy 7p. Ann Genet (2003) 0.75