23 results on '"Khayat, Michael M."'
Search Results
2. Exome variant discrepancies due to reference-genome differences
3. Performance assessment of DNA sequencing platforms in the ABRF Next-Generation Sequencing Study
4. Germline mutation in POLR2A: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation
5. Hidden biases in germline structural variant detection
6. A Genocentric Approach to Discovery of Mendelian Disorders
7. Author Correction: Performance assessment of DNA sequencing platforms in the ABRF Next-Generation Sequencing Study
8. Long read sequencing and expression studies ofAHDC1deletions in Xia‐Gibbs syndrome reveal a novel genetic regulatory mechanism
9. Long read sequencing and expression studies of AHDC1 deletions in Xia‐Gibbs syndrome reveal a novel genetic regulatory mechanism.
10. Additional file 7 of Hidden biases in germline structural variant detection
11. Exome sequencing in children with clinically suspected maturity‐onset diabetes of the young
12. Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein‐truncating alleles in Xia–Gibbs syndrome
13. Germline Cancer Predisposition Variants in Pediatric Rhabdomyosarcoma: A Report From the Children’s Oncology Group
14. Phenotypic expansion in KIF1A ‐related dominant disorders: A description of novel variants and review of published cases
15. Methods developed during the first National Center for Biotechnology Information Structural Variation Codeathon at Baylor College of Medicine
16. Multi-Platform Assessment of DNA Sequencing Performance using Human and Bacterial Reference Genomes in the ABRF Next-Generation Sequencing Study
17. 1550-P: Whole-Exome Sequencing in Children with Suspected Maturity-Onset Diabetes of the Young (MODY)
18. A Genocentric Approach to Discovery of Mendelian Disorders
19. Germline Cancer Predisposition Variants in Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology Group.
20. Xia–Gibbs syndrome in adulthood: a case report with insight into the natural history of the condition
21. The phenotypic spectrum of Xia-Gibbs syndrome
22. Phenotypic expansion in DDX3X – a common cause of intellectual disability in females.
23. Xia-Gibbs syndrome in adulthood: a case report with insight into the natural history of the condition.
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