PubRank

Judith Allanson

Author PubWeight™ 42.02‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nat Genet 2004 2.94
2 Systematic review: family history in risk assessment for common diseases. Ann Intern Med 2009 1.70
3 The face signature of fibrodysplasia ossificans progressiva. Am J Med Genet A 2012 1.62
4 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
5 Citizens' values regarding research with stored samples from newborn screening in Canada. Pediatrics 2012 1.48
6 Collection and use of cancer family history in primary care. Evid Rep Technol Assess (Full Rep) 2007 1.46
7 The current state of cancer family history collection tools in primary care: a systematic review. Genet Med 2009 1.42
8 fMRI for vegetative and minimally conscious states. BMJ 2012 1.39
9 Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome. Am J Hum Genet 2012 1.32
10 Understanding sickle cell carrier status identified through newborn screening: a qualitative study. Eur J Hum Genet 2009 1.22
11 Family history and improving health. Evid Rep Technol Assess (Full Rep) 2009 1.17
12 Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review. Am J Med Genet 2002 1.17
13 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
14 Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database. Hum Mutat 2012 1.15
15 SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome. J Med Genet 2007 1.08
16 GenetiKit: a randomized controlled trial to enhance delivery of genetics services by family physicians. Fam Pract 2011 1.01
17 The primary care physician role in cancer genetics: a qualitative study of patient experience. Fam Pract 2010 0.98
18 Informing parents about expanded newborn screening: influences on provider involvement. Pediatrics 2009 0.97
19 Spondylocarpotarsal synostosis with epiphyseal dysplasia. Am J Med Genet 2002 0.96
20 Dissociable endogenous and exogenous attention in disorders of consciousness. Neuroimage Clin 2013 0.96
21 Health-care providers' views on pursuing reproductive benefit through newborn screening: the case of sickle cell disorders. Eur J Hum Genet 2011 0.95
22 Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome. Eur J Hum Genet 2008 0.94
23 Hereditary breast and ovarian cancers. Can Fam Physician 2008 0.92
24 Clinical utility of cancer family history collection in primary care. Evid Rep Technol Assess (Full Rep) 2009 0.91
25 Traumatic brain injury in adults. Pract Neurol 2013 0.91
26 The diagnosis of Costello syndrome: nomenclature in Ras/MAPK pathway disorders. Am J Med Genet A 2008 0.88
27 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
28 Expectations and values about expanded newborn screening: a public engagement study. Health Expect 2013 0.86
29 Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype. Am J Med Genet A 2011 0.85
30 Assessing residual reasoning ability in overtly non-communicative patients using fMRI. Neuroimage Clin 2012 0.84
31 Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata. Am J Med Genet A 2008 0.83
32 Apparent transmission distortion of a pericentric chromosome one inversion in a large multi-generation pedigree. Am J Med Genet A 2012 0.80
33 Opposite effects on facial morphology due to gene dosage sensitivity. Hum Genet 2014 0.79
34 The first Noonan syndrome gene: PTPN11, which encodes the protein tyrosine phosphatase SHP-2. Pediatr Res 2002 0.78
35 Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis. Am J Med Genet A 2012 0.77
36 Distal phalangeal creases: More evidence of this feature in disorders of the Ras signaling pathway. Eur J Med Genet 2007 0.75
37 Primary care role in expanded newborn screening: After the heel prick test. Can Fam Physician 2013 0.75
38 Genetics: prostate cancer. Can Fam Physician 2009 0.75
39 Maternal age-based prenatal screening for chromosomal disorders: attitudes of women and health care providers toward changes. Can Fam Physician 2013 0.75
40 Genetics: Newborn screening for sickle cell anemia. Can Fam Physician 2009 0.75
41 Genetics: Alzheimer disease. Can Fam Physician 2009 0.75
42 Efficiency of hospital reporting systems in detecting head injury admissions. Br J Neurosurg 2012 0.75
43 Genetics: type 2 diabetes. Can Fam Physician 2009 0.75
44 The epidemiology of a specialist neurorehabilitation clinic: implications for clinical practice and regional service development. Brain Inj 2014 0.75
45 Genetics: Codeine metabolism. Can Fam Physician 2009 0.75
46 Genetics: hereditary hemochromatosis. Can Fam Physician 2009 0.75
47 Genetics: Hypertrophic cardiomyopathy. Can Fam Physician 2009 0.75
48 Genetics: factor V Leiden. Can Fam Physician 2010 0.75
49 Genetics: schizophrenia. Can Fam Physician 2009 0.75
50 Genetics: Preimplantation genetic diagnosis. Can Fam Physician 2010 0.75
51 Genetics: familial melanoma. Can Fam Physician 2010 0.75
52 Genetics: newborn screening for MCAD deficiency. Can Fam Physician 2009 0.75