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1. Heterozygous loss-of-functionSMC3variants are associated with variable and incompletely penetrant growth and developmental features

3. Whole genome sequencing of ‘mutation-negative’ individuals with Cornelia de Lange Syndrome

5. Robust genetic analysis of the X-linked anophthalmic (Ie) mouse

6. Optimising diagnostic yield in highly penetrant genomic disease

8. A human embryonic limb cell atlas resolved in space and time

10. The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources

11. Recommendations for clinical interpretation of variants found in non-coding regions of the genome

13. EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders

14. Integrating healthcare and research genetic data empowers the discovery of 49 novel developmental disorders

15. Detecting cryptic clinically-relevant structural variation in exome sequencing data increases diagnostic yield for developmental disorders

16. Functional Predictors of Causative Cis-Regulatory Mutations in Mendelian Disease

17. The contribution of X-linked coding variation to severe developmental disorders

18. Integrating healthcare and research genetic data empowers the discovery of 28 novel developmental disorders

20. De novo variants in population constrained fetal brain enhancers and intellectual disability

21. VEP-G2P: A Tool for Efficient, Flexible and Scalable Diagnostic Filtering of Genomic Variants

22. ITPase Deficiency Causes Martsolf Syndrome With a Lethal Infantile Dilated Cardiomyopathy

23. Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

24. Integrating healthcare and research genetic data empowers the discovery of 49 novel developmental disorders

25. Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study

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