26 results on '"Witmer, P. Dane"'
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2. Rare exonic CELSR3 variants identified in Bladder Exstrophy Epispadias Complex
3. Lumping versus splitting: How to approach defining a disease to enable accurate genomic curation
4. Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome
5. Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection
6. Insights into genetics, human biology and disease gleaned from family based genomic studies
7. Table s2 from Pancreatic Juice Mutation Concentrations Can Help Predict the Grade of Dysplasia in Patients Undergoing Pancreatic Surveillance
8. Inactivation of the microRNA-183/96/182 cluster results in syndromic retinal degeneration
9. Variants of human CLDN9 cause mild to profound hearing loss
10. Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance
11. The utility of exome sequencing for fetal pleural effusions
12. Bi-allelic Pro291Leu variant in KCNQ4 leads to early onset non-syndromic hearing loss
13. Spectrum of genetic variants in moderate to severe sporadic hearing loss in Pakistan.
14. Pancreatic Juice Mutation Concentrations Can Help Predict the Grade of Dysplasia in Patients Undergoing Pancreatic Surveillance
15. Deleterious Germline Mutations in Patients With Apparently Sporadic Pancreatic Adenocarcinoma
16. Generating Exome Enriched Sequencing Libraries from Formalin‐Fixed, Paraffin‐Embedded Tissue DNA for Next‐Generation Sequencing
17. Deleterious Germline Mutations in Patients With Apparently Sporadic Pancreatic Adenocarcinoma.
18. The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities
19. Truncating mutations in the last exon ofNOTCH3cause lateral meningocele syndrome
20. miRNA mutations are not a common cause of deafness
21. MicroRNA (miRNA) Transcriptome of Mouse Retina and Identification of a Sensory Organ-specific miRNA Cluster
22. DNA methylation regulates microRNA expression
23. MicroRNA (miRNA) Transcriptome of Mouse Retina and Identification of a Sensory Organ-specific miRNA CIuster.
24. Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome
25. Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.
26. Two novel germline DDX41 mutations in a family with inherited myelodysplasia/acute myeloid leukemia.
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