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1. De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies

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

3. Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder

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

5. Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder

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

8. Contributors

10. A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder

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

12. Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples

13. The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing

14. De novo variants in DENND5B cause a neurodevelopmental disorder

15. Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

16. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

17. Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care

18. Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy

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

20. De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

21. De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features

22. Bi-allelic variants in INTS11 are associated with a complex neurological disorder

23. A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network

24. De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects

25. Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis

26. Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review

27. IgG4‐related disease: Association with a rare gene variant expressed in cytotoxic T cells

28. A toolkit for genetics providers in follow‐up of patients with non‐diagnostic exome sequencing

29. Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

30. A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder

31. Centers for Mendelian Genomics: A decade of facilitating gene discovery

32. Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease

33. IRF2BPL Is Associated with Neurological Phenotypes

34. Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease–associated loci for BAFopathies

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

36. Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

37. Neptune: an environment for the delivery of genomic medicine

38. Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

39. Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

40. Functional and structural analysis of cytokine-selective IL6ST defects that cause recessive hyper-IgE syndrome

41. Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

42. An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

43. Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science

44. Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions

45. CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels

46. Frequency of genomic secondary findings among 21,915 eMERGE network participants

48. A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay

49. Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

50. De novo variants in DENND5B cause a neurodevelopmental disorder

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