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1. STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179

4. Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly

5. The Undiagnosed Diseases Network: Characteristics of solvable applicants and diagnostic suggestions for nonaccepted ones

6. Considerations for reporting variants in novel candidate genes identified during clinical genomic testing

8. Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities

9. Implementing evidence-based assertions of clinical actionability in the context of secondary findings: Updates from the ClinGen Actionability Working Group

10. Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis

11. De novo variants in DENND5B cause a neurodevelopmental disorder

12. 3-hour genome sequencing and targeted analysis to rapidly assess genetic risk

13. HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder

14. Beyond the exome: What’s next in diagnostic testing for Mendelian conditions

15. Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis

16. De novo variants in DENND5B cause a neurodevelopmental disorder

18. Multi-site validation of a functional assay to adjudicate SCN5A Brugada Syndrome-associated variants

19. Synchronized long-read genome, methylome, epigenome, and transcriptome for resolving a Mendelian condition

21. HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder

24. P229: Non-coding variants create an enhancer cluster that causes resistance to thyrotropin via long-range interactions with a microRNA promoter

25. P008: ClinGen Glucose-6-phosphate dehydrogenase (G6PD) Variant Curation Expert Panel: Addressing the need for genetic variant classification in G6PD deficiency*

26. Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome

27. Fibertools: fast and accurate DNA-m6A calling using single-molecule long-read sequencing

28. Conservation of chromatin organization within human and primate centromeres

29. Identification of Racial Inequities in Access to Specialized Inpatient Heart Failure Care at an Academic Medical Center

30. Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A.

32. Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A

34. P099: Mosaic variant in RHOA in an adolescent with a multisystem disorder composed of congenital and progressive anomalies

40. 3-hour genome sequencing and targeted analysis to rapidly assess genetic risk

45. Conservation of trans-acting circuitry during mammalian regulatory evolution

46. Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts

47. Single cell biology—a Keystone Symposia report

48. Rewiring of human neurodevelopmental gene regulatory programs by human accelerated regions

50. Single cell biology—a Keystone Symposia report

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