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, +52

Genetics in Medicine

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, +21

The American Journal of Human Genetics

<scp>RNA</scp> seq analysis for the diagnosis of muscular dystrophy

Hernán Gonorazky, Minggao Liang, Beryl B. Cummings, +10

Annals of Clinical and Translational Neurology

SequencingFunctional GenomicsEngineeringDmd GeneMedicine +13

Novel de novo <i>PCDH19</i> mutations in three unrelated females with epilepsy female restricted mental retardation syndrome

Seema M. Jamal, Raveen Basran, Stephanie Newton, +2

American Journal of Medical Genetics Part A

Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study

Iris Cohn, Tara Paton, Christian R. Marshall, +10

npj Genomic Medicine

A T-to-G Transversion at Nucleotide −567 Upstream of <i>HBG2</i> in a GATA-1 Binding Motif Is Associated with Elevated Hemoglobin F

Zhiyi Chen, Hongyuan Luo, Raveen Basran, +8

Molecular and Cellular Biology

GeneticsImmunologyMolecular BiologyT-to-g TransversionMolecular Genetics +17

Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray

Robin Z. Hayeems, Jasmin Bhawra, Kate Tsiplova, +15

European Journal of Human Genetics

SequencingNext-generation SequencingGeneticsCost ConsequencesPediatrics +5

Wilms tumour in Beckwith–Wiedemann Syndrome and loss of methylation at imprinting centre 2: revisiting tumour surveillance guidelines

Jack Brzezinski, Cheryl Shuman, Sanaa Choufani, +9

European Journal of Human Genetics

MedicineGeneticsPathologyBeckwith–wiedemann SyndromeTumour Surveillance Guidelines +2

Valproic Acid and Augmentation of Fetal Hemoglobin in Individuals With and Without Sickle Cell Disease

Rita Selby, Eric Nisbet‐Brown, Raveen Basran, +2

Blood

Valproic Acid and Augmentation of Fetal Hemoglobin in Individuals With and Without Sickle Cell Disease

Rita Selby, Eric Nisbet‐Brown, Raveen Basran, +2

Blood

ImmunohematologyValproic AcidPediatric HematologyHematologyFetal Hemoglobin +3