Hilary Racher

Novel, deep intronic RB1 variant exhibiting incomplete penetrance and a parent-of-origin effect.

Clark R, Racher H, Matevski D, Li Y, Wang M, Chen R, Skalet AH

Canadian consensus for the assessment and testing of Lynch syndrome.

Aronson M, Palma L, Semotiuk K, Nuk J, Pollett A, Singh H, Rothenmund H, Racher H, Jessen J, Pautler SE, Rusnak A, Rutka M, Etchegary H, Tiano T, Kaurah P, Dawson L, Hawrysh A, Ward T, Bedard A, Sheffield BS, Lerner-Ellis J, Jacob K, Ferguson S, Kim CA, Chamberlain E, Dornan K, Waldman L, Holter S, Horte J, Hyde A, Kwon J, MacMillan A, O'Loughlin M, Tabori U, Gallinger S, Kim R

Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes-ENG and ACVRL1.

DeMille D, McDonald J, Bernabeu C, Racher H, Olivieri C, Cantarini C, Sbalchiero A, Thompson BA, Jovine L, Shovlin CL, Dupuis-Girod S, Lesca G, Tusseau M, Ganguly A, Kasthuri RS, Jessen J, Massink MPG, Ichikawa S, Bayrak-Toydemir P

Retinoblastoma caused by an RB1 variant with unusually low penetrance in a Danish family.

Gregersen PA, Jensen PS, Christensen R, Lohmann D, Racher H, Gallie B, Urbak SF

Cytogenetic Abnormalities for Predicting the Risk of Metastases in Choroidal and Ciliary Body Melanoma.

Chao AN, Rose K, Racher H, Altomare F, Krema H

A typical anterior retinoblastoma: diagnosis by aqueous humor cell-free DNA analysis.

Kletke SN, Soliman S, Racher H, Mallipatna A, Shaikh F, Mireskandari K, Gallie BL

Metachronous, non-pineal, trilateral retinoblastoma in a patient with a seemingly reduced-expressivity RB1 germline deletion.

Eiset SE, Funding M, Racher H, Heegaard S, Gallie B, Urbak SF, Gregersen PA

Detection of severe acute respiratory coronavirus virus 2 (SARS-CoV-2) in outpatients: A multicenter comparison of self-collected saline gargle, oral swab, and combined oral–anterior nasal swab to a provider collected nasopharyngeal swab

Detection of SARS-CoV-2 from Saliva as Compared to Nasopharyngeal Swabs in Outpatients.

Kandel C, Zheng J, McCready J, Serbanescu MA, Racher H, Desaulnier M, Powis JE, Vojdani K, Finlay L, Sheldrake E, Vermeiren C, Katz K, McGeer A, Kozak R, Goneau LW