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Publications by Matthew A. Deardorff
Diagnosis and Management of Cornelia De Lange Syndrome: First International Consensus Statement
Nature Reviews Genetics
Genetics
Molecular Biology
Diagnostic Utility of Genome-Wide DNA Methylation Testing in Genetically Unsolved Individuals With Suspected Hereditary Conditions
American Journal of Human Genetics
Genetics
MESP1 Mutations in Patients With Congenital Heart Defects
Human Mutation
Genetics
Automated Clinical Exome Reanalysis Reveals Novel Diagnoses
Journal of Molecular Diagnostics
Forensic Medicine
Pathology
Molecular Medicine
Structural Aspects of HDAC8 Mechanism and Dysfunction in Cornelia De Lange Syndrome Spectrum Disorders
Protein Science
Biochemistry
Medicine
Molecular Biology
Rapid and Accurate Interpretation of Clinical Exomes Using Phenoxome: A Computational Phenotype-Driven Approach
European Journal of Human Genetics
Genetics
Homozygosity for the V37IGJB2mutation in Fifteen Probands With Mild to Moderate Sensorineural Hearing Impairment: Further Confirmation of Pathogenicity and Haplotype Analysis in Asian Populations
American Journal of Medical Genetics, Part A
Genetics
Causes of Death and Autopsy Findings in a Large Study Cohort of Individuals With Cornelia De Lange Syndrome and Review of the Literature
American Journal of Medical Genetics, Part A
Genetics
Cover Image, Volume 179A, Number 4, April 2019
American Journal of Medical Genetics, Part A
Genetics
Molecular Diagnosis of Somatic Overgrowth Conditions: A Single‐center Experience
Molecular genetics & genomic medicine
Genetics
Molecular Biology
