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Exome Sequencing in Crisponi/CISS-like Individuals Reveals Unpredicted Alternative Diagnoses

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The Structure ofDSM-IV-TRPersonality Disorder Diagnoses in NESARC: A Reanalysis

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Whole-Exome Sequencing Reveals Novel USP9X Variant in Female Fetus With Isolated Agenesis of the Corpus Callosum

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A Semi-Automated Whole Exome Sequencing Workflow Leads to Increased Diagnostic Yield and Identification of Novel Candidate Variants

Cold Spring Harbor molecular case studies
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Exome Sequencing Reveals a Novel MFN2 Missense Mutation in a Chinese Family With Charcot‑Marie‑Tooth Type 2A

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Clinical Application of Whole-Exome Sequencing

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Clinical Exome Sequencing Identifies a Novel TUBB4A Mutation in a Child With Static Hypomyelinating Leukodystrophy

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Reanalysis of BRCA1/2 Negative High Risk Ovarian Cancer Patients Reveals Novel Germline Risk Loci and Insights Into Missing Heritability

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Exome Sequencing to Identify Novel Genes in Hypertension

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