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Patient with X-linked phenotype of SCID, markedly skewed maternal X-inactivation, but normal common gamma chain (CD132) gene ORF sequence

Allergy, asthma, and clinical immunology, 2012-11, Vol.8 (S1), p.A24-A24, Article A24

2012

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Multiplex Ligation-Dependent Probe Amplification Versus Multiprobe Fluorescence in Situ Hybridization To Detect Genomic Aberrations in Chronic Lymphocytic Leukemia: A Tertiary Center Experience

The Journal of molecular diagnostics : JMD, 2010-03, Vol.12 (2), p.197-203

2010

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Multiplex Ligation-Dependent Probe Amplification Versus Multiprobe Fluorescence in Situ Hybridization To Detect Genomic Aberrations in Chronic Lymphocytic Leukemia

The Journal of molecular diagnostics : JMD, 2010-03, Vol.12 (2), p.197-203

2010

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Canadian Open Genetics Repository (COGR): a unified clinical genomics database as a community resource for standardising and sharing genetic interpretations

Journal of medical genetics, 2015-07, Vol.52 (7), p.438-445

2015

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The Incidence and Prognostic Significance of 9p21 Abnormalities In Pediatric Acute Lymphoblastic Leukemia Patients – the IWK Experience

Blood, 2010-11, Vol.116 (21), p.1705-1705

2010

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Congenital Isolated Adrenocorticotropin Deficiency: An Underestimated Cause of Neonatal Death, Explained by TPIT Gene Mutations

The journal of clinical endocrinology and metabolism, 2005-03, Vol.90 (3), p.1323-1331

2005

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ING1 and p53 tumor suppressor gene alterations in adenocarcinomas of the esophagogastric junction

Cancer letters, 2003-03, Vol.192 (1), p.109-116

2003

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Using MS-MLPA as an efficient screening tool for detecting 9p21 abnormalities in pediatric acute lymphoblastic leukemia

Pediatric blood & cancer, 2012-06, Vol.58 (6), p.852-859

2012

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Familial Platelet Disorder and Predisposition to Myeloid Leukemia (FPD/AML) in the Absence of RUNX1 Mutations- A Report of Three Families

Blood, 2009-11, Vol.114 (22), p.4689-4689

2009

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A Rare Case of JAK2 V617F Positive Polycythemia Vera in a Child with Neurofibromatosis Type I

Blood, 2007-11, Vol.110 (11), p.4661-4661

2007

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Spectrum of HNF1A and GCK mutations in Canadian families with maturity-onset diabetes of the young (MODY)

Clinical and investigative medicine, 2004-06, Vol.27 (3), p.135

2004

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Is gene discovery research or diagnosis?

Genetics in medicine, 2008-06, Vol.10 (6), p.385-390

2008

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PCNA bearing structures are retained in apoptotic phase of childhood ALL cell cycle

Advances in experimental medicine and biology, 1999, Vol.457, p.289

1999

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Apoptosis corrected proliferation fraction in childhood ALL is related to karyotype

Advances in experimental medicine and biology, 1999, Vol.457, p.297

1999

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Proliferation and apoptosis does not affect presenting white cell count in childhood ALL

Advances in experimental medicine and biology, 1999, Vol.457, p.305

1999

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F.70. Three New Cases of Interleukin-1 Receptor Associated Kinase 4 (IRAK-4) Deficiency with Novel Presentations: Pericarditis, Occult Liver and Paratracheal Abscesses, Novel Gene Mutations and the Utility of the Neutrophil CD62L (L-selectin) Shedding Assay for Screening for this Immunodeficiency

Clinical immunology (Orlando, Fla.), 2008, Vol.127, p.S66-S66

2008

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Apoptotic fraction in childhood ALL assessed by DNA in situ labelling is ploidy independent

Advances in experimental medicine and biology, 1999, Vol.457, p.281

1999

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JAK2 V617F positive polycythemia Vera in a child with neurofibromatosis type I

Pediatric Blood & Cancer, 2008-11, Vol.51 (5), p.689-691

2008

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VHL P25L is not a pathogenic von Hippel-Lindau mutation: a family study

Molecular diagnosis & therapy, 2006-01, Vol.10 (4), p.239-242

2006

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Limiting the Niemann-Pick type C critical region to a 1-cM interval

Clinical and investigative medicine, 1997-10, Vol.20 (5), p.339-343

1997

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FISH mapping and inter-Alu fingerprinting define the YAC contig map around the centromeric region of human chromosome 18

Genome, 1998-06, Vol.41 (3), p.468

1998

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Association between Breus' mole and partial hydatidiform mole: chance or can hydropic villi precipitate placental massive subchorionic thrombosis?

Pediatric pathology & molecular medicine, 2002-09, Vol.21 (5), p.451-459

2002

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ASSOCIATION BETWEEN BREUS' MOLE AND PARTIAL HYDATIDIFORM MOLE: CHANCE OR CAN HYDROPIC VILLI PRECIPITATE PLACENTAL MASSIVE SUBCHORIONIC THROMBOSIS?

Fetal and pediatric pathology, 2002, Vol.21 (5), p.451-459

2002

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Molecular diagnosis of cystic fibrosis in Maritime Canada

Clinical and investigative medicine, 1994-02, Vol.17 (1), p.1

1994

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Patient with X-linked phenotype of SCID, markedly skewed maternal X-inactivation, but normal common gamma chain (CD132) gene ORF sequence

Multiplex Ligation-Dependent Probe Amplification Versus Multiprobe Fluorescence in Situ Hybridization To Detect Genomic Aberrations in Chronic Lymphocytic Leukemia: A Tertiary Center Experience

Multiplex Ligation-Dependent Probe Amplification Versus Multiprobe Fluorescence in Situ Hybridization To Detect Genomic Aberrations in Chronic Lymphocytic Leukemia

Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR)

Canadian Open Genetics Repository (COGR): a unified clinical genomics database as a community resource for standardising and sharing genetic interpretations

The Incidence and Prognostic Significance of 9p21 Abnormalities In Pediatric Acute Lymphoblastic Leukemia Patients – the IWK Experience

Congenital Isolated Adrenocorticotropin Deficiency: An Underestimated Cause of Neonatal Death, Explained by TPIT Gene Mutations

ING1 and p53 tumor suppressor gene alterations in adenocarcinomas of the esophagogastric junction

Using MS-MLPA as an efficient screening tool for detecting 9p21 abnormalities in pediatric acute lymphoblastic leukemia

Familial Platelet Disorder and Predisposition to Myeloid Leukemia (FPD/AML) in the Absence of RUNX1 Mutations- A Report of Three Families

A Rare Case of JAK2 V617F Positive Polycythemia Vera in a Child with Neurofibromatosis Type I

Spectrum of HNF1A and GCK mutations in Canadian families with maturity-onset diabetes of the young (MODY)

Is gene discovery research or diagnosis?

PCNA bearing structures are retained in apoptotic phase of childhood ALL cell cycle

Apoptosis corrected proliferation fraction in childhood ALL is related to karyotype

Proliferation and apoptosis does not affect presenting white cell count in childhood ALL

F.70. Three New Cases of Interleukin-1 Receptor Associated Kinase 4 (IRAK-4) Deficiency with Novel Presentations: Pericarditis, Occult Liver and Paratracheal Abscesses, Novel Gene Mutations and the Utility of the Neutrophil CD62L (L-selectin) Shedding Assay for Screening for this Immunodeficiency

Apoptotic fraction in childhood ALL assessed by DNA in situ labelling is ploidy independent

JAK2 V617F positive polycythemia Vera in a child with neurofibromatosis type I

VHL P25L is not a pathogenic von Hippel-Lindau mutation: a family study

Limiting the Niemann-Pick type C critical region to a 1-cM interval

FISH mapping and inter-Alu fingerprinting define the YAC contig map around the centromeric region of human chromosome 18

Association between Breus' mole and partial hydatidiform mole: chance or can hydropic villi precipitate placental massive subchorionic thrombosis?

ASSOCIATION BETWEEN BREUS' MOLE AND PARTIAL HYDATIDIFORM MOLE: CHANCE OR CAN HYDROPIC VILLI PRECIPITATE PLACENTAL MASSIVE SUBCHORIONIC THROMBOSIS?

Molecular diagnosis of cystic fibrosis in Maritime Canada

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