P. Bhai

发表

Diagnostic Utility of Genome-Wide DNA Methylation Analysis in Mendelian Neurodevelopmental Disorders

B. Sadikovic, E. Aref-Eshghi, Sadegheh Haghshenas, 2020, International journal of molecular sciences.

Reducing cytogenetic testing in the era of next generation sequencing: Are we choosing wisely?

C. Howlett, B. Sadikovic, Hanxin Lin, 2021, International journal of laboratory hematology.

Clinical Utility of Implementing a Frontline NGS-Based DNA and RNA Fusion Panel Test for Patients with Suspected Myeloid Malignancies

B. Sadikovic, L. Schenkel, Hanxin Lin, 2022, Molecular Diagnosis & Therapy.

Mutational Landscape of Patients Referred for Elevated Hemoglobin Level

B. Chin-Yee, B. Sadikovic, Hanxin Lin, 2022, Current oncology.

Clinical and molecular characterization of Indian patients with fructose‐1, 6‐bisphosphatase deficiency: Identification of a frequent variant (E281K)

Divya Agarwal, R. Saxena, D. Gupta, 2018, Annals of human genetics.

Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome

P. Fergelot, M. Tartaglia, G. Merla, 2022, International journal of molecular sciences.

Clinical and technical assessment of MedExome vs. NGS panels in patients with suspected genetic disorders in Southwestern Ontario

V. Siu, C. Campbell, B. Sadikovic, 2020, Journal of Human Genetics.

Clinical heterogeneity and molecular profile of triple A syndrome: a study of seven cases

Garima Chawla, R. Saxena, P. Bhai, 2018, Journal of pediatric endocrinology & metabolism : JPEM.

Mutation–Proved Clouston Syndrome in a Large Indian Family with a Variant Phenotype

R. Saxena, P. Bhai, I. Verma, 2019, Indian Journal of Dermatology.

Identification of a DNA methylation signature for Renpenning syndrome (RENS1), a spliceopathy

C. Skinner, R. Stevenson, C. Schwartz, 2023, European Journal of Human Genetics.

A novel CHEK2 variant identified by next generation sequencing in an Indian family with hereditary breast cancer syndrome.

I. Verma, R. Saxena, P. Bhai, 2019, Cancer genetics.

Spectrum of Mutations in WFS1 Gene in Six Families with Wolfram Syndrome: Identification of Five Novel Mutations

Shanker, R. Saxena, P. Bhai, 2018 .

Secondary causes of elevated hemoglobin in patients undergoing molecular testing for suspected polycythemia vera in southwestern Ontario: a chart review

B. Chin-Yee, B. Sadikovic, Hanxin Lin, 2022, CMAJ open.

Validation and clinical performance of a combined nuclear‐mitochondrial next‐generation sequencing and copy number variant analysis panel in a Canadian population

M. Tarnopolsky, B. Kaufman, B. Sadikovic, 2020, American journal of medical genetics. Part A.

Serum erythropoietin levels in 696 patients investigated for erythrocytosis with JAK2 mutation analysis

B. Chin-Yee, B. Sadikovic, Hanxin Lin, 2022, American journal of hematology.

A Prediction Rule to Guide JAK2 Testing in Patients with Suspected Polycythemia Vera

B. Sadikovic, Hanxin Lin, B. Chin-Yee, 2021, Blood.

Spectrum of mutations in genes associated with familial colorectal cancer syndrome (MLH1, MSH2, PMS2, MSH6, and APC): A not so common hereditary cancer syndrome in Indian population

R. Saxena, P. Bhai, I. Verma, 2020, Indian Journal of Gastroenterology.

Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach

P. Ainsworth, B. Sadikovic, M. Volodarsky, 2021, Frontiers in Genetics.

Molecular profiling of solid tumors by next-generation sequencing: an experience from a clinical laboratory

C. Howlett, M. Cecchini, S. Welch, 2023, Frontiers in oncology.

Clinical Utility of Implementing a Frontline NGS-Based DNA and RNA Fusion Panel Test for Patients with Suspected Myeloid Malignancies

B. Sadikovic, L. Schenkel, Hanxin Lin, 2022, Molecular Diagnosis & Therapy.

Genotypic analysis of a large cohort of patients with suspected atypical hemolytic uremic syndrome

B. Sadikovic, L. Schenkel, D. Connaughton, 2023, Journal of Molecular Medicine.

A case of congenital prothrombin deficiency with two concurrent mutations in the prothrombin gene

B. Sadikovic, A. Lazo-Langner, P. Bhai, 2021, Research and practice in thrombosis and haemostasis.

The first case of antenatal presentation in COG8‐congenital disorder of glycosylation with a novel splice site mutation and an extended phenotype

R. Saxena, P. Bhai, S. Bijarnia-Mahay, 2019, American journal of medical genetics. Part A.

A Rational Approach to JAK2 Mutation Testing in Patients with Elevated Hemoglobin: Results from the JAK2 Prediction Cohort (JAKPOT) Study

B. Chin-Yee, B. Sadikovic, Hanxin Lin, 2022, Journal of general internal medicine.

Investigating Erythrocytosis: Changing Practice Patterns in the Era of Molecular Diagnostics

B. Sadikovic, Hanxin Lin, B. Chin-Yee, 2021, Blood.

Myelodysplastic Neoplasms (MDS) with Ring Sideroblasts or SF3B1 Mutations: The Improved Clinical Utility of World Health Organization and International Consensus Classification 2022 Definitions, a Single-Centre Retrospective Chart Review

B. Chin-Yee, B. Sadikovic, A. Lazo-Langner, 2024, Current oncology.