An evaluation of genetic causes and environmental risks for bilateral optic atrophy von Chen, Andrew T, Brady, Lauren, Bulman, Dennis E, Sundaram, Arun N E, Rodriguez, Amadeo R, Margolin, Edward, Waye, John S, Tarnopolsky, Mark A

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Burden and Determinants of Anemia in a Rural Population in South India: A Cross-Sectional Study von Patel, Kirit, Dodd, Warren, Humphries, Sally, Zivot, Chloe, Little, Matthew, Dewey, Cate

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The duplication mutation of Quebec platelet disorder dysregulates PLAU, but not C10orf55, selectively increasing production of normal PLAU transcripts by megakaryocytes but not gra... von Hayward, Catherine P M, Liang, Minggao, Tasneem, Subia, Soomro, Asim, Waye, John S, Paterson, Andrew D, Rivard, Georges E, Wilson, Michael D

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Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel von Kountouris, Petros, Stephanou, Coralea, Lederer, Carsten W., Traeger‐Synodinos, Joanne, Bento, Celeste, Harteveld, Cornelis L., Fylaktou, Eirini, Koopmann, Tamara T., Halim‐Fikri, Hashim, Michailidou, Kyriaki, Nfonsam, Landry E., Waye, John S., Zilfalil, Bin A., Kleanthous, Marina

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Microcytosis in patients with haemoglobin C trait: is α‐thalassaemia trait to blame? von Forté, Stéphanie, Eng, Barry, Verhovsek, Madeleine, Soulières, Denis, Waye, John S.

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Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach von Waye, John S, Riemer, Cathy, Gallivan, Monica V E, Kollia, Panagoula, Galanello, Renzo, Perseu, Lucia, Anstee, David J, Faustino, Paula, Harteveld, Cornelis L, Hoyer, James D, Peterson, Kenneth R, Giordano, Piero C, Stojiljkovic, Maja, Schrijver, Iris, Thein, Swee Lay, Gibbons, Richard J, Jarvis, Martin, Hardison, Ross C, Maglott, Donna, Francina, Alain, Borg, Joseph, Wada, Takahito, Basak, A Nazli, Giardine, Belinda, Pavlovic, Sonja, Costa, Flavia C, Papadopoulos, Petros, Old, John, Philipsen, Sjaak, Menzel, Stephan, Higgs, Douglas R, Radmilovic, Milena, Wajcman, Henri, Patrinos, George P, Fedosyuk, Halyna, Georgitsi, Marianthi, Traeger-Synodinos, Jan, Papadakis, Manoussos N, Joly, Philippe, Papachatzopoulou, Adamantia, Tully, Ray, Miller, Webb, Zukic, Branka, Felice, Alex E, Kanavakis, Emmanuel, Singleton, Belinda K, Wiemann, Claudia, Moradkhani, Kamran, Satta, Stefania, Clark, Barnaby, Chui, David H K

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Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Ana... von Schenkel, Laila C, Kerkhof, Jennifer, Stuart, Alan, Reilly, Jack, Eng, Barry, Woodside, Crystal, Levstik, Alexander, Howlett, Christopher J, Rupar, Anthony C, Knoll, Joan H.M, Ainsworth, Peter, Waye, John S, Sadikovic, Bekim

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Clinical evaluation of a hemochromatosis next‐generation sequencing gene panel von Lanktree, Matthew B., Sadikovic, Bekim, Waye, John S., Levstik, Alexander, Lanktree, Bruce B., Yudin, Jovana, Crowther, Mark A., Pare, Guillaume, Adams, Paul C.

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Persons with Quebec platelet disorder have a tandem duplication of PLAU, the urokinase plasminogen activator gene von Paterson, Andrew D., Rommens, Johanna M., Bharaj, Bhupinder, Blavignac, Jessica, Wong, Isidro, Diamandis, Maria, Waye, John S., Rivard, Georges E., Hayward, Catherine P.M.

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Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR) von Lebo, Matthew S, Zakoor, Kathleen-Rose, Chun, Kathy, Speevak, Marsha D, Waye, John S, McCready, Elizabeth, Parboosingh, Jillian S, Lamont, Ryan E, Feilotter, Harriet, Bosdet, Ian, Tucker, Tracy, Young, Sean, Karsan, Aly, Charames, George S, Agatep, Ronald, Spriggs, Elizabeth L, Chisholm, Caitlin, Vasli, Nasim, Daoud, Hussein, Jarinova, Olga, Tomaszewski, Robert, Hume, Stacey, Taylor, Sherryl, Akbari, Mohammad R, Lerner-Ellis, Jordan

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Hb S/β+-thalassemia due to Hb sickle and a novel deletion of DNase I hypersensitive sites HS3 and HS4 of the β locus control region von Amid, Ali, Cheong, Melina, Eng, Barry, Hanna, Meredith, Hohenadel, Betty-Ann, Nakamura, Lisa M, Walker, Lynda, Odame, Isaac, Kirby-Allen, Melanie, Waye, John S

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Changes in the Epidemiology of Thalassemia in North America: A New Minority Disease von Vichinsky, Elliott P, MacKlin, Eric A, Waye, John S, Lorey, Fred, Olivieri, Nancy F

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Multiplex Allele-Specific PCR for Simultaneous Detection of H63D and C282Y HFE Mutations in Hereditary Hemochromatosis von Arts, Heleen H, Eng, Barry, Waye, John S

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Quebec platelet disorder is linked to the urokinase plasminogen activator gene (PLAU) and increases expression of the linked allele in megakaryocytes von Diamandis, Maria, Paterson, Andrew D., Rommens, Johanna M., Veljkovic, D. Kika, Blavignac, Jessica, Bulman, Dennis E., Waye, John S., Derome, Francine, Rivard, Georges E., Hayward, Catherine P.M.

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Consensus statement for the perinatal management of patients with α thalassemia major von MacKenzie, Tippi C., Amid, Ali, Angastiniotis, Michael, Butler, Craig, Gilbert, Sandra, Gonzalez, Juan, Keller, Roberta L., Kharbanda, Sandhya, Kirby-Allen, Melanie, Koenig, Barbara A., Kyono, Wade, Lal, Ashutosh, Lianoglou, Billie R., Norton, Mary E., Ogasawara, Keith K., Panchalee, Tachjaree, Rosner, Mara, Schwab, Marisa, Thompson, Alexis, Waye, John S., Vichinsky, Elliott

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Examining the Clinical Use of Hemochromatosis Genetic Testing von Lanktree, Matthew B, Lanktree, Bruce B, Paré, Guillaume, Waye, John S, Sadikovic, Bekim, Crowther, Mark A

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Characterisation of the British alpha 0-thalassaemia deletion: evidence of a founder effect in Newfoundland, Canada von Eng, Barry, Greenlay, Benjamin, Waye, John S

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Comparison of Three Commercially Available Platforms for Somatic Mutation Profiling in Solid Tumors von Grafodatskaya, Daria, Eng, Barry, Waye, John S, Juergens, Rosalyn A, McCready, M. Elizabeth

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Digging deeper into the limits of ancient DNA research on syphilis von von Hunnius, Tanya E., Yang, Dongya, Eng, Barry, Waye, John S., Saunders, Shelley R.

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DHCR7 mutation carrier rates and prevalence of the RSH/Smith-Lemli-Opitz syndrome: Where are the patients? von Nowaczyk, Małgorzata J.M., Waye, John S., Douketis, James D.

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