D. Rushlow

发表

Novel mutations and polymorphisms in genes causing hereditary hemorrhagic telangiectasia

Ning Chen, M. Letarte, U. Cymerman, 2005, Human mutation.

Identification of a mutation in exon 27 of the RB1 gene associated with incomplete penetrance retinoblastoma

B. Gallie, D. Mitter, D. Lohmann, 2008, Familial Cancer.

Detection of mosaic RB1 mutations in families with retinoblastoma

B. Gallie, R. Clark, Katherine Zhang, 2009, Human mutation.

SMAD4 mutations found in unselected HHT patients

R. Pyeritz, A. Ganguly, D. Marchuk, 2006, Journal of Medical Genetics.

Identification of clinically relevant mosaicism in type I hereditary haemorrhagic telangiectasia

B. Gallie, D. Rushlow, B. Piovesan, 2011, Journal of Medical Genetics.

Human retinoblastoma is not caused by known pRb‐inactivating human DNA tumor viruses

B. Gallie, Ning Chen, M. Gillison, 2007, International journal of cancer.

Using RB1 mutations to assess minimal residual disease in metastatic retinoblastoma.

P. Babyn, B. Gallie, W. Halliday, 2010, Translational research : the journal of laboratory and clinical medicine.

High performance DNA sequencing, and the detection of mutations and polymorphisms, on the Clipper sequencer

J M Lacroix, J. Lacroix, T. Yager, 1999, Electrophoresis.

Molecular analysis distinguishes metastatic disease from second cancers in patients with retinoblastoma.

T. Corson, B. Gallie, B. Argiropoulos, 2016, Cancer genetics.

Patterns of missplicing caused by RB1 gene mutations in patients with retinoblastoma and association with phenotypic expression

B. Gallie, D. Lohmann, Katherine Zhang, 2008, Human mutation.

Characterisation of retinoblastomas without RB1 mutations: genomic, gene expression, and clinical studies.

W. Lam, P. Boutros, T. Corson, 2013, The Lancet. Oncology.

Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations

B. Gallie, H. Ozçelik, K. Vandezande, 2006, Journal of Medical Genetics.

Deletion of RB exons 24 and 25 causes low-penetrance retinoblastoma.

B. Gallie, R. Bremner, P. Bridge, 1997, American journal of human genetics.

Needle core biopsies provide ample material for genomic and proteomic studies of kidney cancer: observations on DNA, RNA, protein extractions and VHL mutation detection.

A. Evans, B. Gallie, A. Finelli, 2012, Pathology, research and practice.

High performance DNA sequencing, and the detection of mutations and polymorphisms, on the Clipper sequencer

J. Lacroix, T. Yager, A. Izmailov, 1999, Electrophoresis.

Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations

H. Ozçelik, S. Savas, E. Zhang, 2006, Journal of Medical Genetics.

Needle core biopsies provide ample material for genomic and proteomic studies of kidney cancer: observations on DNA, RNA, protein extractions and VHL mutation detection.

A. Evans, B. Gallie, A. Finelli, 2012, Pathology, research and practice.