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Publications in Medicine

Genomic Mosaicism in the Pathogenesis and Inheritance of a Rett Syndrome Cohort

Genetics in Medicine
MedicineGenetics
2018English

Correction: Estimating the Burden and Economic Impact of Pediatric Genetic Disease

Genetics in Medicine
MedicineGenetics
2019English

Correction To: The Landscape of Epilepsy-Related GATOR1 Variants

Genetics in Medicine
MedicineGenetics
2018English

Monogenic Diabetes in Overweight and Obese Youth Diagnosed With Type 2 Diabetes: The TODAY Clinical Trial

Genetics in Medicine
MedicineGenetics
2017English

Ultra-Orphan Diseases: A Quantitative Analysis of the Natural History of Molybdenum Cofactor Deficiency

Genetics in Medicine
MedicineGenetics
2015English

Laboratory Testing of CYP2D6 Alleles in Relation to Tamoxifen Therapy

Genetics in Medicine
MedicineGenetics
2012English

Tuberculosis Incidence in Immigrants and Refugees

Annals of Internal Medicine
Internal MedicineMedicine
2015English

Spinal Muscular Atrophy Diagnosis and Carrier Screening From Genome Sequencing Data

Genetics in Medicine
MedicineGenetics
2020English

Risk Estimates for Complex Disorders: Comparing Personal Genome Testing and Family History

Genetics in Medicine
MedicineGenetics
2013English

Report on the Banbury Summit Meeting on Medical Genetics Training in the Genomic Era, 23–26 February 2014

Genetics in Medicine
MedicineGenetics
2017English
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