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1. Congenital myasthenic syndrome secondary to pathogenic variants in the SLC5A7 gene: report of two cases.

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

3. Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations

4. Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya disease.

5. Beyond the exome: what's next in diagnostic testing for Mendelian conditions

9. Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome (NODRS)

10. Genetic modifiers of body mass index in individuals with cystic fibrosis

11. Whole-exome sequencing uncovers the genetic complexity of bicuspid aortic valve in families with early-onset complications

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

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

14. Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder

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

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

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

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

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

21. The clinical utility of sequencing the entirety of CFTR

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

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

24. De novo variants in DENND5B cause a neurodevelopmental disorder

25. Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1

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

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

28. 3-hour genome sequencing and targeted analysis to rapidly assess genetic risk

29. Deletion of CTCF sites in the SHH locus alters enhancer-promoter interactions and leads to acheiropodia.

30. Rare variants in CAPN2 increase risk for isolated hypoplastic left heart syndrome

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

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

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

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

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

37. A dyadic approach to the delineation of diagnostic entities in clinical genomics

38. Multiplexed Functional Assessment of Genetic Variants in CARD11

39. Biallelic mutations in LAMA5 disrupts a skeletal noncanonical focal adhesion pathway and produces a distinct bent bone dysplasia

40. Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions

41. De novo variants in GATAD2A in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder

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

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

44. De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population

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

46. Precision medicine for developmental and epileptic encephalopathies in Africa—strategies for a resource-limited setting

47. Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects

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

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

50. Pleiotropic modifiers of age-related diabetes and neonatal intestinal obstruction in cystic fibrosis

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