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5. List of Contributors

6. Detect Lysosomal Storage Diseases: A no-charge, sponsored, testing program that enables access to genetic testing, treatment, and clinical trials for individuals with suspected lysosomal disorders

7. PIGG variant pathogenicity assessment reveals characteristic features within 19 families

8. Syndromic neurodevelopmental disorder associated with de novo variants inDDX23

9. Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

10. De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

14. Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

15. Automated typing of red blood cell and platelet antigens: a whole-genome sequencing study

16. TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism

17. A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories

18. De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

19. Recurrent De Novo and Biallelic Variation of ATAD3A , Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes

20. De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

21. De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease

22. Health Care Infrastructure for Financially Sustainable Clinical Genomics

23. Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

24. Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

25. Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

26. Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

27. Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity

28. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

30. COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

33. Compound Heterozygosity for Loss-of-Function Lysyl-tRNA Synthetase Mutations in a Patient with Peripheral Neuropathy

34. Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

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