Y. Goldberg

发表

Mutations in HFE2 cause iron overload in chromosome 1q–linked juvenile hemochromatosis

Marie-Pierre Dubé, Elizabeta Nemeth, Tomas Ganz, 2004, Nature Genetics.

Human Mendelian pain disorders: a key to discovery and validation of novel analgesics

M. Hayden, Y. P. Goldberg, S. Pimstone, 2012, Clinical genetics.

Loss‐of‐function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations

M. Dubé, D. Bowsher, E. Boltshauser, 2007, Clinical genetics.

A homozygous HAMP mutation in a multiply consanguineous family with pseudo‐dominant juvenile hemochromatosis

P. Gow, M. Hayden, C. Radomski, 2004, Clinical genetics.

Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects

M. Hayden, B. Kremer, F. Squitieri, 1993, Nature genetics.

Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy

M. Hayden, R. Moon, M. Trese, 2002, Nature Genetics.

Hepcidin in iron overload disorders.

T. Ganz, Y. P. Goldberg, E. Nemeth, 2005, Blood.

Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm

M. Hayden, B. Kremer, S. Andrew, 1994, Nature Genetics.

Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates.

M. Hayden, X. Breakefield, B. Brais, 2004, American journal of human genetics.

Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population.

D. Sillence, M. Hayden, J. Buchanan, 1995, Human molecular genetics.

HIP1, a human homologue of S. cerevisiae Sla2p, interacts with membrane-associated huntingtin in the brain

I. Kanazawa, M. Hayden, C. Wellington, 1997, Nature Genetics.

CAG size-specific risk estimates for intermediate allele repeat instability in Huntington disease

M. Hayden, J. Collins, Y. P. Goldberg, 2013, Journal of Medical Genetics.

Huntington disease: new insights into the relationship between CAG expansion and disease.

M. Hayden, Y. P. Goldberg, J. Nasir, 1996, Human molecular genetics.

Somatic mosaicism in sperm is associated with intergenerational (CAG)n changes in Huntington disease.

B. Kremer, F. Squitieri, E. Almqvist, 1995, Human molecular genetics.