Publications by authors named "Raveen Basran"

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A Next-Generation Sequencing Primer-How Does It Work and What Can It Do?
Yuriy O Alekseyev, Roghayeh Fazeli, Shi Yang, Raveen Basran, Thomas Maher

Acad Pathol· May 2018

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Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
Anath C Lionel, Gregory Costain, Nasim Monfared, Susan Walker, Miriam S Reuter, Raveen Basran

Genet Med· April 2018

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Reply to Brioude et al.
Jack Brzezinski, Cheryl Shuman, Sanaa Choufani, Peter Ray, Dimitri J Stavropoulos, Raveen Basran

Eur J Hum Genet· April 2018

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Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray.
Robin Z Hayeems, Jasmin Bhawra, Kate Tsiplova, M Stephen Meyn, Nasim Monfared, Raveen Basran

Eur J Hum Genet· December 2017

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Wilms tumour in Beckwith-Wiedemann Syndrome and loss of methylation at imprinting centre 2: revisiting tumour surveillance guidelines.
Jack Brzezinski, Cheryl Shuman, Sanaa Choufani, Peter Ray, Dmitiri J Stavropoulos, Raveen Basran

Eur J Hum Genet· September 2017

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CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.
Darci T Butcher, Cheryl Cytrynbaum, Andrei L Turinsky, Michelle T Siu, Michal Inbar-Feigenberg, Raveen Basran

Am J Hum Genet· May 2017

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Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study.
Iris Cohn, Tara A Paton, Christian R Marshall, Raveen Basran, Dimitri J Stavropoulos

NPJ Genom Med· May 2017

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An Update on Molecular Diagnostic Testing of Human Imprinting Disorders.
Daria Grafodatskaya, Sanaa Choufani, Raveen Basran, Rosanna Weksberg

J Pediatr Genet· March 2017

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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.
Cheryl Cytrynbaum, Karen Chong, Vickie Hannig, Sanaa Choufani, Cheryl Shuman, Raveen K Basran

Am J Med Genet A· October 2016

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RNAseq analysis for the diagnosis of muscular dystrophy.
Hernan Gonorazky, Minggao Liang, Beryl Cummings, Monkol Lek, Johann Micallef, Raveen Basran

Ann Clin Transl Neurol· January 2016

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Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism.
Laura Pilozzi-Edmonds, Thomas A Maher, Raveen K Basran, Aubrey Milunsky, Khalid Al-Thihli

Am J Med Genet A· August 2011

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Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome.
Seema M Jamal, Raveen K Basran, Stephanie Newton, Zhenyuan Wang, Jeff M Milunsky

Am J Med Genet A· October 2010

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THE Hb S/beta+ -thalassemia phenotype demonstrates that the IVS-I (-2) (A>C) mutation is a mild beta-thalassemia allele.
Markus Schmugge, John S Waye, Raveen K Basran, Karin Zurbriggen, Hannes Frischknecht

Hemoglobin· August 2008

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A T-to-G transversion at nucleotide -567 upstream of HBG2 in a GATA-1 binding motif is associated with elevated hemoglobin F.
Zhiyi Chen, Hong-Yuan Luo, Raveen K Basran, Tien-Huei Hsu, Daniel W H Mang

Mol Cell Biol· July 2008

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Beta-thalassemia intermedia due to compound heterozygosity for two beta-globin gene promoter mutations, including a novel TATA box deletion.
Raveen K Basran, Ulrike M Reiss, Hong-Yuan Luo, Russell E Ware, David H K Chui

Pediatr Blood Cancer· February 2008

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Two new alpha-thalassemia frameshift mutations.
Hong-Yuang Luo, Adeboye H Adewoye, Monika Pilichowska, Michael Yunlong Li, Raveen K Basran

Hemoglobin· July 2007

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Sickle cell disease due to compound heterozygosity for Hb S and a novel 7.7-kb beta-globin gene deletion.
B Anders R Andersson, Mikaela E L Wering, Hong-Yuan Luo, Raveen K Basran, Martin H Steinberg

Eur J Haematol· January 2007

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Prenatal diagnosis of hemoglobinopathies in Ontario, Canada.
Raveen K Basran, Margie Patterson, Lynda Walker, Lisa M Nakamura, Barry Eng

Ann N Y Acad Sci· July 2006

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