Get started
Author

Raveen K. Basran

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
2017 · Anath C. Lionel, Gregory Costain, et al. · Genetics in Medicine · 557
PDF
CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions
2017 · Darci T. Butcher, Cheryl Cytrynbaum, et al. · The American Journal of Human Genetics · 198
PDF
A Next-Generation Sequencing Primer—How Does It Work and What Can It Do?
2018 · Yuriy O. Alekseyev, Roghayeh Fazeli, et al. · Academic Pathology · 96
PDF
RNA seq analysis for the diagnosis of muscular dystrophy
2015 · Hernan Gonorazky, Minggao Liang, et al. · Annals of Clinical and Translational Neurology · 84
PDF
Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome
2010 · Seema M. Jamal, Raveen K. Basran, et al. · American Journal of Medical Genetics Part A · 55
Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study
2017 · Iris Cohn, Tara A. Paton, et al. · npj Genomic Medicine · 52
PDF
A T-to-G Transversion at Nucleotide −567 Upstream of HBG2 in a GATA-1 Binding Motif Is Associated with Elevated Hemoglobin F
2008 · Zhiyi Chen, Hong-Yuan Luo, et al. · Molecular and Cellular Biology · 44
Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray
2017 · Robin Z. Hayeems, Jasmin Bhawra, et al. · European Journal of Human Genetics · 40
PDF
Wilms tumour in Beckwith–Wiedemann Syndrome and loss of methylation at imprinting centre 2: revisiting tumour surveillance guidelines
2017 · Jack Brzezinski, Cheryl Shuman, et al. · European Journal of Human Genetics · 38
PDF
Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance
2010 · M Al-Owain, N Kaya, et al. · Clinical Genetics · 36
Valproic Acid and Augmentation of Fetal Hemoglobin in Individuals With and Without Sickle Cell Disease
1997 · Rita Selby, Eric Nisbet-Brown, et al. · Blood · 33
PDF
Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR)
2017 · Matthew S. Lebo, Kathleen-Rose Zakoor, et al. · Genetics in Medicine · 31
PDF
An Update on Molecular Diagnostic Testing of Human Imprinting Disorders
2016 · Daria Grafodatskaya, Sanaa Choufani, et al. · Journal of Pediatric Genetics · 27
PDF
Genomic imbalance in the centromeric 11p15 imprinting center in three families: Further evidence of a role for IC2 as a cause of Russell–Silver syndrome
2016 · Cheryl Cytrynbaum, Karen Chong, et al. · American Journal of Medical Genetics Part A · 18
PDF
Prenatal Diagnosis of Hemoglobinopathies in Ontario, Canada
2005 · RAVEEN K. BASRAN, MARGIE PATTERSON, et al. · Annals of the New York Academy of Sciences · 14
Sickle cell disease due to compound heterozygosity for Hb S and a novel 7.7‐kb β‐globin gene deletion
2006 · B. Anders R. Andersson, Mikaela E. L. Wering, et al. · European Journal Of Haematology · 13
β‐thalassemia intermedia due to compound heterozygosity for two β‐globin gene promoter mutations, including a novel TATA box deletion
2006 · Raveen K. Basran, Ulrike M. Reiss, et al. · Pediatric Blood & Cancer · 13
Fraternal twins with Aarskog–Scott syndrome due to maternal germline mosaicism
2011 · Laura Pilozzi‐Edmonds, Thomas A. Maher, et al. · American Journal of Medical Genetics Part A · 12
THE Hb S/β+-Thalassemia Phenotype Demonstrates that the IVS-I (−2) (A>C) Mutation is a Mild β-Thalassemia Allele
2008 · Markus Schmugge, John S. Waye, et al. · Hemoglobin · 9
Two New α-Thalassemia Frameshift Mutations
2007 · Hong-Yuang Luo, Adeboye H. Adewoye, et al. · Hemoglobin · 9
Reply to Brioude et al
2018 · Jack Brzezinski, Cheryl Shuman, et al. · European Journal of Human Genetics · 6
PDF
Genetic influences on bone disease in thalassemia.
1998 · Raveen Basran, David C. Rees, et al. · Blood · 4
MG-129 Our experience ofin silicogene panel testing for clinically heterogeneous disorders using exome sequencing
2015 · Raveen K Basran, Christian R Marshall, et al. · Journal of Medical Genetics · 1
P271: Two copies, one condition? Understanding APOE allele state in over 14,000 symptomatic patients
2025 · Zoe Powis, Khalida Liaquat, et al. · Genetics in Medicine Open
PDF
Expanding the mutational spectrum for branchiooculofacial syndrome: a novel nonsense variant
2021 · Zoe Powis, Hannah Hayes, et al. · Molecular Genetics and Metabolism
Works count: 25
Citation count: 1,354
H-index: 14
I10-index: 17
Year
Topic
Type