Kym Boycott

Author PubWeight™ 8.03‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia. Am J Med Genet A 2008 1.57
2 BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. Hum Mutat 2011 1.28
3 Translating the genomics revolution: the need for an international gene therapy consortium for monogenic diseases. Mol Ther 2013 1.16
4 VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families. Am J Hum Genet 2012 0.91
5 Attitudes of Canadian researchers toward the return to participants of incidental and targeted genomic findings obtained in a pediatric research setting. Genet Med 2013 0.91
6 Café-au-lait macules and pediatric malignancy caused by biallelic mutations in the DNA mismatch repair (MMR) gene PMS2. Pediatr Blood Cancer 2008 0.88
7 Nablus mask-like facial syndrome: deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype. Am J Med Genet A 2012 0.75
8 Clinical expression of developmental coordination disorder in a large Canadian family. Paediatr Child Health 2008 0.75
9 MEK inhibition in BRAF-mutated melanoma. N Engl J Med 2012 0.75
10 Looking for a needle in a haystack--tackling rare diseases: an interview with Kym Boycott. Dis Model Mech 2015 0.75