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198 results on '"Hodge, Jennelle C."'

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1. The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: Myeloid and Histiocytic/Dendritic Neoplasms

2. Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies

3. Case Report: An association of left ventricular outflow tract obstruction with 5p deletions.

4. Development of a Multifaceted Program for Pharmacogenetics Adoption at an Academic Medical Center: Practical Considerations and Lessons Learned.

7. Assessing copy number abnormalities and copy-neutral loss-of-heterozygosity across the genome as best practice in diagnostic evaluation of acute myeloid leukemia: An evidence-based review from the cancer genomics consortium (CGC) myeloid neoplasms working group

8. Assessing copy number aberrations and copy neutral loss of heterozygosity across the genome as best practice: An evidence based review of clinical utility from the cancer genomics consortium (CGC) working group for myelodysplastic syndrome, myelodysplastic/myeloproliferative and myeloproliferative neoplasms

9. Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

10. A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart Disease

11. A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay

12. Computational pharmacogenotype extraction from clinical next-generation sequencing

13. Abstract 16552: Chromosomal Microarray Abnormalities in More Than 1300 Patients With Congenital Heart Disease Provide Novel Clinical and Etiological Insights

14. The 5th edition of the World Health Organization Classification of Tumours of the Eye and Orbit

16. Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay

17. A cross-disorder dosage sensitivity map of the human genome

18. A cross-disorder dosage sensitivity map of the human genome

20. 15. Standard procedure for the curation and maintenance of cancer-specific gene lists

26. Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures

27. Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation

28. Highly Penetrant Alterations of a Critical Region Including BDNF in Human Psychopathology and Obesity

32. Systematic evaluation of genome sequencing for the assessment of fetal structural anomalies

33. 20. A resource for our clinical genomics community: The Compendium of Cancer Genome Aberrations (CCGA)

38. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

39. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

40. Genomic Copy Number Aberrations and Copy Neutral Loss of Heterozygosity Evaluation in Myeloid Neoplasms: Evidence-Based Recommendations for Clinical Genetic Testing From the Myeloid Malignancies Working Group of the Cancer Genomics Consortium

41. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

45. Recurrent duplications of 17q12 associated with variable phenotypes

46. Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation

47. 16 - Genomic Copy Number Aberrations and Copy Neutral Loss of Heterozygosity Evaluation in Myeloid Neoplasms: Evidence-Based Recommendations for Clinical Genetic Testing From the Myeloid Malignancies Working Group of the Cancer Genomics Consortium

48. High-grade Endometrial Stromal Sarcomas

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