Works by Waye, John S.

Results: 78

Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel.

Published in:

Human Mutation, 2022, v. 43, n. 8, p. 1089, doi. 10.1002/humu.24280

By:

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

Publication type:

Article

Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS).

Published in:

Human Mutation, 2005, v. 26, n. 1, p. 59, doi. 10.1002/humu.9346

By:

Waye, John S.;
Krakowiak, Patrycja A.;
Wassif, Christopher A.;
Sterner, Allison L.;
Eng, Barry;
Nakamura, Lisa M.;
Nowaczyk, Małgorzata J.M.;
Porter, Forbes D.

Publication type:

Article

Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 3, p. 217, doi. 10.1038/sj.ejhg.5200610

By:

Horsley, Sharon W;
Daniels, Rachael J;
Anguita, Eduardo;
Raynham, Helen A;
Peden, John F;
Villegas, Ana;
Vickers, Mark A;
Green, Sarah;
Waye, John S;
Chui, David HK;
Ayyub, Helena;
MacCarthy, Angela B;
Buckle, Veronica J;
Gibbons, Richard J;
Kearney, Lyndal;
Higgs, Douglas R

Publication type:

Article

Atypical clinical course in juvenile metachromatic leukodystrophy involving novel arylsulfatase A gene mutations.

Published in:

Developmental Medicine & Child Neurology, 2006, v. 48, n. 5, p. 383, doi. 10.1017/S001216220600082X

By:

Banu Anlar;
John S Waye;
Barry Eng;
Kader Karli Oguz

Publication type:

Article

Identification of a novel β0 - thalassaemia mutation in a greek family and subsequent prenatal diagnosis.

Published in:

Prenatal Diagnosis, 1994, v. 14, n. 10, p. 929, doi. 10.1002/pd.1970141006

By:

Waye, John S.;
Eng, Barry;
Olivieri, Nancy F.;
Chui, David H. K.

Publication type:

Article

Non-Thalassemic Phenotype Associated With the -83 (G > A) Mutation of the β-Globin Gene Promoter ( HBB: c.-133G > A).

Published in:

Hemoglobin, 2014, v. 38, n. 6, p. 447, doi. 10.3109/03630269.2014.976417

By:

Waye, John S.;
Eng, Barry;
Hanna, Meredith;
Hohenadel, Betty-Ann;
Nakamura, Lisa N.;
Walker, Lynda

Publication type:

Article

Mild β+-Thalassemia Associated With Two Linked Sequence Variants: IVS-II-839 (T>C) and IVS-II-844 (C>A).

Published in:

Hemoglobin, 2013, v. 37, n. 4, p. 378, doi. 10.3109/03630269.2013.788511

By:

Waye, John S.;
Eng, Barry;
Hellens, Laurie;
Hohenadel, Betty-Ann;
Nakamura, Lisa M.;
Walker, Lynda

Publication type:

Article

Normal Hb A2 β-Thalassemia Trait: Frameshift Mutation ( HBB: c.187_251dup) in Cis with the Hb A2' δ-Globin Gene Missense Mutation ( HBD: c.49G>C).

Published in:

Hemoglobin, 2013, v. 37, n. 2, p. 201, doi. 10.3109/03630269.2012.763171

By:

Waye, John S.;
Eng, Barry;
Hellens, Laurie;
Hohenadel, Betty-Ann;
Nakamura, Lisa M.;
Walker, Lynda

Publication type:

Article

α++-Thalassemia Trait Caused by a Frameshift Mutation in Exon 2 of the α2-Globin Gene [HBA2 c.244delT].

Published in:

Hemoglobin, 2012, v. 36, n. 2, p. 205, doi. 10.3109/03630269.2012.656172

By:

Waye, John S.;
Walker, Lynda;
Eng, Barry

Publication type:

Article

β+-Thalassemia Trait Due to a Novel Mutation in the β-Globin Gene Promoter: −26 (A>C) [HBB c.−76A>C].

Published in:

Hemoglobin, 2011, v. 35, n. 1, p. 84, doi. 10.3109/03630269.2010.529744

By:

Waye, John S.;
Nakamura-Garrett, Lisa M.;
Eng, Barry;
Kanavakis, Emmanuel;
Traeger-Synodinos, Joanne

Publication type:

Article

Characterization of Three Novel δ Chain Hemoglobin Variants and Two δ-Thalassemia Alleles.

Published in:

Hemoglobin, 2010, v. 34, n. 4, p. 374, doi. 10.3109/03630269.2010.500966

By:

Frischknecht, Hannes;
Troxler, Heinz;
Dutly, Fabrizio;
Walker, Lynda;
Hohenadel, Betty-Ann;
Eng, Barry;
Waye, John S.

Publication type:

Article

Codon 24 (TA T>TA G) and Codon 32 (A TG>A GG) (Hb Rotterdam): Two Novel α2 Gene Mutations Associated with Mild α-Thalassemia Found in the Same Family After Newborn Screening.

Published in:

Hemoglobin, 2010, v. 34, n. 4, p. 354, doi. 10.3109/03630269.2010.486341

By:

Giordano, Piero C.;
Cnossen, Marjon H.;
Joosten, Annemarie M.S.;
Jansen, Cees A.M.;
Hakvoort, Tineke E.;
Bakker-Verweij, Margreet;
Arkesteijn, Sandra G.J.;
van Delft, Peter;
Waye, John S.;
Bouva, Marelle J.;
Harteveld, Cornelis L.

Publication type:

Article

α-Thalassemia Caused by Two Novel Splice Mutations of the α2-Globin Gene: IVS-I-1 (G>A and G>T).

Published in:

Hemoglobin, 2009, v. 33, n. 6, p. 519, doi. 10.3109/03630260903333377

By:

Waye, John S.;
Eng, Barry;
Dutly, Fabrizio;
Frischknecht, Hannes

Publication type:

Article

Molecular Characterization of a Novel 55.1 kb Gγ(Aγδβ)0-thalassemia Deletion in Two Canadian Families.

Published in:

Hemoglobin, 2009, v. 33, n. 6, p. 422, doi. 10.3109/03630260903333088

By:

Voruganti, Indu;
Eng, Barry;
Waye, John S.

Publication type:

Article

Three New β-Thalassemia Mutations with Varying Degrees of Severity.

Published in:

Hemoglobin, 2009, v. 33, n. 3/4, p. 220, doi. 10.1080/03630260903089060

By:

Frischknecht, Hannes;
Dutly, Fabrizio;
Walker, Lynda;
Nakamura-Garrett, Lisa M.;
Eng, Barry;
Waye, John S.

Publication type:

Article

α+-Thalassemia Trait Caused by a Nonsense Mutation in the α2-Globin Gene: Codon 54 (CAG>TAG).

Published in:

Hemoglobin, 2009, v. 33, n. 1, p. 72, doi. 10.1080/03630260802625980

By:

Eng, Barry;
Walker, Lynda;
Waye, John S.

Publication type:

Article

Hb North York [β117(G19)His→Asp]: A New β Chain Hemoglobin Variant.

Published in:

Hemoglobin, 2009, v. 33, n. 1, p. 51, doi. 10.1080/03630260802625659

By:

Waye, John S.;
Walker, Lynda;
Nakamura, Lisa M.;
Eng, Barry;
McFarlane, Andrew

Publication type:

Article

Frameshift Mutation in the α2-Globin Gene Causing α+-Thalassemia: Codon 49 (-GC).

Published in:

Hemoglobin, 2008, v. 32, n. 3, p. 315, doi. 10.1080/03630260701798359

By:

Eng, Barry;
Waye, John S.

Publication type:

Article

THE Hb S/β+-Thalassemia Phenotype Demonstrates that the IVS-I (-2) (A>C) Mutation is a Mild β-Thalassemia Allele.

Published in:

Hemoglobin, 2008, v. 32, n. 3, p. 303, doi. 10.1080/03630260802004459

By:

Schmugge, Markus;
Waye, John S.;
Basran, Raveen K.;
Zurbriggen, Karin;
Frischknecht, Hannes

Publication type:

Article

High Oxygen Affinity Hemoglobin Variant in a Canadian Family: Hb Bunbury [β94(FG1)As(p)→Asn, GA(C)→AAC].

Published in:

Hemoglobin, 2007, v. 31, n. 1, p. 101, doi. 10.1080/03630260601059241

By:

Walker, Lynda;
Eng, Barry;
McFarlane, Andrew;
Waye, John S.

Publication type:

Article

Three New β-Globin Gene Promoter Mutations Identified Through Newborn Screening.

Published in:

Hemoglobin, 2007, v. 31, n. 2, p. 129, doi. 10.1080/03630260701284624

By:

Eng, Barry;
Walker, Lynda;
Nakamura, Lisa M.;
Hoppe, Carolyn;
Azimi, Mahin;
Lee, Helen;
Waye, John S.

Publication type:

Article

THREE NEW α-THALASSEMIA POINT MUTATIONS ASCERTAINED THROUGH NEWBORN SCREENING.

Published in:

Hemoglobin, 2006, v. 30, n. 2, p. 149, doi. 10.1080/03630260600642021

By:

Eng, Barry;
Patterson, Margie;
Walker, Lynda;
Hoppe, Carolyn;
Azimi, Mahin;
Lee, Helen;
Giordano, Piero C.;
Waye, John S.

Publication type:

Article

In Memoriam.

Published in:

2006

By:

Chui, David H. K.;
Waye, John S.

Publication type:

Obituary

High Hb A 2 β-Thalassemia Due to a 468 bp Deletion in a Patient with Hb S/β-Thalassemia.

Published in:

Hemoglobin, 2005, v. 29, n. 4, p. 293, doi. 10.1080/03630260500311651

By:

Patterson, Margie;
Walker, Lynda;
Eng, Barry;
Waye, John S.

Publication type:

Article

Identification of a New δ Chain Hemoglobin Variant in a β-Thalassemia Carrier: Hb A 2 -MUMC [δ13(A10)Ala → Asp].

Published in:

Hemoglobin, 2005, v. 29, n. 4, p. 285, doi. 10.1080/03630260500310794

By:

Walker, Lynda;
Patterson, Margie;
Eng, Barry;
McFarlane, Andrew;
Waye, John S.

Publication type:

Article

Characterization of a Rare Single α-Globin Gene Deletion in a Chinese Woman with Hb H Disease.

Published in:

Hemoglobin, 2005, v. 29, n. 4, p. 297, doi. 10.1080/03630260500312618

By:

Eng, Barry;
Walsh, Robert;
Walker, Lynda;
Patterson, Margie;
Waye, John S.

Publication type:

Article

Hb Castilla [β32(B14)Leu → Arg] Caused by a De Novo Mutation.

Published in:

Hemoglobin, 2003, v. 27, n. 4, p. 253, doi. 10.1081/HEM-120026051

By:

Walker, Lynda;
McFarlane, Andrew;
Patterson, Margie;
Eng, Barry;
Waye, John S.

Publication type:

Article

Identification of a New β-Thalassemia Nonsense Mutation [Codon 59 (AAG→TAG)].

Published in:

Hemoglobin, 2003, v. 27, n. 3, p. 201, doi. 10.1081/HEM-120023385

By:

Patterson, Margie;
Walker, Lynda;
Chui, David H. K.;
Cohen, Alan R.;
Waye, John S.

Publication type:

Article

Identification of a new hemoglobin variant: Hb St. Joseph's [β77(EF1)His→Leu].

Published in:

Hemoglobin, 2003, v. 27, n. 3, p. 181, doi. 10.1081/HEM-120023382

By:

Patterson, Margie;
Walker, Lynda;
Chui, David H. K.;
Lafferty, John D.;
MacFarlane, Andrew;
Waye, John S.

Publication type:

Article

DOMINANT β-THALASSEMIA DUE TO A NEWLY IDENTIFIED FRAMESHIFT MUTATION IN EXON 3 (CODON 113, GTG → TG).

Published in:

Hemoglobin, 2002, v. 26, n. 1, p. 83, doi. 10.1081/HEM-120002945

By:

Waye, John S.;
Walker, Lynda;
Lafferty, John;
Lemire, Edmond G.;
Chui, David H. K.

Publication type:

Article

IDENTIFICATION OF TWO NEW β-THALASSEMIA SPLICE MUTATIONS: IVS-I-1 (G → C) AND IVS-I (-2) (A → C).

Published in:

Hemoglobin, 2002, v. 26, n. 1, p. 87, doi. 10.1081/HEM-120002946

By:

Waye, John S.;
Walker, Lynda;
Patterson, Margaret;
Chui, David H. K.

Publication type:

Article

IDENTIFICATION OF TWO NEW α-THALASSEMIA MUTATIONS IN EXON 2 OF THE α1-GLOBIN GENE.

Published in:

Hemoglobin, 2001, v. 25, n. 4, p. 391, doi. 10.1081/HEM-100107876

By:

Waye, John S.;
Eng, Barry;
Patterson, Margaret;
Carcao, Manuel D.;
Chang, Lebe;
Olivieri, Nancy F.;
Chui, David H. K.

Publication type:

Article

NOVEL β-THALASSEMIA MUTATION IN A β-THALASSEMIA INTERMEDIA PATIENT [POLY A (AATAAA →GATAAA)].

Published in:

Hemoglobin, 2001, v. 25, n. 1, p. 103, doi. 10.1081/HEM-100103075

By:

Waye, John S.;
Eng, Barry;
Patterson, Margie;
Reis, Marciano D.;
Macdonald, Denis;
Chui, David H. K.

Publication type:

Article

Multiplex Allele-Specific PCR for Simultaneous Detection of H63D and C282Y HFE Mutations in Hereditary Hemochromatosis.

Published in:

Journal of Applied Laboratory Medicine, 2018, p. 10, doi. 10.1373/jalm.2017.024984

By:

Arts, Heleen H.;
Eng, Barry;
Waye, John S.

Publication type:

Article

The duplication mutation of Quebec platelet disorder dysregulates PLAU, but not C10orf55, selectively increasing production of normal PLAU transcripts by megakaryocytes but not granulocytes.

Published in:

PLoS ONE, 2017, v. 12, n. 3, p. 1, doi. 10.1371/journal.pone.0173991

By:

Hayward, Catherine P. M.;
Liang, Minggao;
Tasneem, Subia;
Soomro, Asim;
Waye, John S.;
Paterson, Andrew D.;
Rivard, Georges E.;
Wilson, Michael D.

Publication type:

Article

Identification of an extensive ζ-α globin gene deletion in a Chinese individual.

Published in:

British Journal of Haematology, 1992, v. 80, n. 3, p. 378, doi. 10.1111/j.1365-2141.1992.tb08148.x

By:

Waye, John S.;
Eng, Barry;
Chui, David H. K.

Publication type:

Article

Late-onset metachromatic leukodystrophy clinically presenting as isolated peripheral neuropathy: Compound heterozygosity for the IVS2+1G→a mutation and a newly identified missense mutation (Thr408Ile) in a Spanish family.

Published in:

Annals of Neurology, 2001, v. 50, n. 1, p. 108, doi. 10.1002/ana.1076

By:

Comabella, Manuel;
Waye, John S.;
Raguer, Nuria;
Eng, Barry;
Domínguez, Carmen;
Navarro, Carmen;
Borrás, Cecilia;
Krivit, William;
Montalbán, Xavier

Publication type:

Article

Severity of β-thalassemia due to genotypes involving the IVS-I-6 (T→C) mutation.

Published in:

American Journal of Hematology, 1995, v. 50, n. 1, p. 15, doi. 10.1002/ajh.2830500104

By:

Waye, John S.;
Eng, Barry;
Patterson, Margaret;
Wasi, Parveen;
Chui, David H. K.;
Francombe, William H.;
Sher, Graham D.;
Olivieri, Nancy F.

Publication type:

Article

Hb E/Hb LeporeHollandia in a family from Bangladesh.

Published in:

American Journal of Hematology, 1994, v. 47, n. 4, p. 262, doi. 10.1002/ajh.2830470403

By:

Waye, John S.;
Eng, Barry;
Patterson, Margaret;
Chui, David H. K.;
Chang, Lebe S.;
Cogionis, Bessie;
Poon, Annette O.;
Olivieri, Nancy F.

Publication type:

Article

DNA diagnosis of Hb S and Hb Caribbean (α2β291 Leu→Arg) in a Jamaican family.

Published in:

American Journal of Hematology, 1994, v. 47, n. 1, p. 33, doi. 10.1002/ajh.2830470107

By:

Waye, John S.;
Patterson, Margaret;
Eng, Barry;
Chui, David H. K.;
Sher, Graham D.;
Olivieri, Nancy F.

Publication type:

Article

Clinical course and molecular characterization of a compound heterozygote for sickle hemoglobin and hemoglobin kenya.

Published in:

American Journal of Hematology, 1992, v. 41, n. 4, p. 289, doi. 10.1002/ajh.2830410413

By:

Waye, John S.;
Chui, David H. K.;
Cai, Shi-Ping;
Eng, Barry;
Francombe, William H.

Publication type:

Article

Hb S/β°-Thalassemia due to the ˜1.4-kb deletion is associated with a relatively mild phenotype.

Published in:

American Journal of Hematology, 1991, v. 38, n. 2, p. 108, doi. 10.1002/ajh.2830380207

By:

Waye, John S.;
Chui, David H. K.;
Eng, Barry;
Cai, Shi-Ping;
Coleman, Mary B.;
Adams, Junius G.;
Steinberg, Martin H.

Publication type:

Article

Examining the clinical use of hemochromatosis genetic testing.

Published in:

Canadian Journal of Gastroenterology & Hepatology, 2015, v. 29, n. 1, p. 41, doi. 10.1155/2015/941406

By:

Lanktree, Matthew B.;
Lanktree, Bruce B.;
Paré, Guillaume;
Waye, John S.;
Sadikovic, Bekim;
Crowther, Mark A.

Publication type:

Article

Prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS) by DHCR7 mutation analysis.

Published in:

Prenatal Diagnosis, 2007, v. 27, n. 7, p. 638, doi. 10.1002/pd.1735

By:

Waye, John S.;
Eng, Barry;
Nowaczyk, Małgorzata J. M.

Publication type:

Article

Microcytosis in patients with haemoglobin C trait: is α‐thalassaemia trait to blame?

Published in:

British Journal of Haematology, 2020, v. 191, n. 5, p. e129, doi. 10.1111/bjh.17095

By:

Forté, Stéphanie;
Eng, Barry;
Verhovsek, Madeleine;
Soulières, Denis;
Waye, John S.

Publication type:

Article

Characterisation of the British α0-thalassaemia deletion: evidence of a founder effect in Newfoundland, Canada.

Published in:

2009

By:

Eng, Barry;
Greenlay, Benjamin;
Waye, John S.

Publication type:

Letter

Clinical evaluation of a hemochromatosis next-generation sequencing gene panel.

Published in:

European Journal of Haematology, 2017, v. 98, n. 3, p. 228, doi. 10.1111/ejh.12820

By:

Lanktree, Matthew B.;
Sadikovic, Bekim;
Waye, John S.;
Levstik, Alexander;
Lanktree, Bruce B.;
Yudin, Jovana;
Crowther, Mark A.;
Pare, Guillaume;
Adams, Paul C.

Publication type:

Article

Elimination of Transfusions Through Induction of Fetal Hemoglobin Synthesis in Cooley's Anemiaa.

Published in:

Annals of the New York Academy of Sciences, 1998, v. 850, n. 1, p. 100, doi. 10.1111/j.1749-6632.1998.tb10467.x

By:

OLIVIERI, NANCY F.;
REES, DAVID C.;
GINDER, GORDON D.;
THEIN, SWEE LAY;
WAYE, JOHN S.;
CHANG, LEBE;
BRITTENHAM, GARY M.;
WEATHERALL, DAVID J.

Publication type:

Article

Increase in Hemoglobin Concentration during Therapy with Hydroxyurea in Cooley's Anemia.

Published in:

Annals of the New York Academy of Sciences, 1998, v. 850, n. 1, p. 459, doi. 10.1111/j.1749-6632.1998.tb10520.x

By:

SAXON, BEN R.;
WAYE, JOHN S.;
OLIVIERI, NANCY F.

Publication type:

Article

Pregnancy outcomes in women with elevated levels of fetal hemoglobin.

Published in:

Journal of Maternal-Fetal & Neonatal Medicine, 2012, v. 25, n. 2, p. 125, doi. 10.3109/14767058.2011.564241

By:

Murji, Ally;
Sobel, Mara L.;
Hasan, Lara;
Mcleod, Anne;
Waye, John S.;
Sermer, Mathew;
Berger, Howard

Publication type:

Article