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

2. Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling

3. Correction: Whole genome sequencing of extreme phenotypes identifies variants in CD101 and UBE2V1 associated with increased risk of sexually acquired HIV-1.

4. Whole genome sequencing of extreme phenotypes identifies variants in CD101 and UBE2V1 associated with increased risk of sexually acquired HIV-1.

6. Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis.

7. Genetic Modifiers of Cystic Fibrosis Lung Disease Severity: Whole-Genome Analysis of 7,840 Patients

8. The Genetic Landscape of Familial Pulmonary Fibrosis

10. MagicalRsq: Machine-learning-based genotype imputation quality calibration

11. Club cell secretory protein and lung function in children with cystic fibrosis

12. Complete CFTR gene sequencing in 5,058 individuals with cystic fibrosis informs variant-specific treatment

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

15. PRDM1 DNA-binding zinc finger domain is required for normal limb development and is disrupted in split hand/foot malformation

16. Exome sequencing identifies variants in infants with sacral agenesis

17. Comparing encounter-based and annualized chronic pseudomonas infection definitions in cystic fibrosis

18. Human SMAD4 Genomic Variants Identified in Individuals with Heritable and Early-Onset Thoracic Aortic Disease

19. Exome sequencing of child–parent trios with bladder exstrophy: Findings in 26 children

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

21. Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13

22. 3-hour genome sequencing and targeted analysis to rapidly assess genetic risk

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

24. Further delineation of van den <scp>Ende‐Gupta</scp> syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome

25. Expanding the phenotype, genotype and biochemical knowledge of <scp>ALG3‐CDG</scp>

26. Multiplexed Functional Assessment of Genetic Variants in CARD11

27. Predominant and novel de novo variants in 29 individuals with <scp> ALG13 </scp> deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions

28. Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

29. Otitis media susceptibility and shifts in the head and neck microbiome due to SPINK5 variants

30. Mutations in <scp>GET4</scp> disrupt the transmembrane domain recognition complex pathway

31. Guidelines for genetic ancestry inference created through roundtable discussions

33. Expanding ACTA2 genotypes with corresponding phenotypes overlapping with smooth muscle dysfunction syndrome

34. Variant-level matching for diagnosis and discovery: Challenges and opportunities

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

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

37. Variants in

38. Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation

39. 8q24 genetic variation and comprehensive haplotypes altering familial risk of prostate cancer

40. The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy

42. De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

43. Severe Dengue Prognosis Using Human Genome Data and Machine Learning

44. Mendelian Gene Discovery: Fast and Furious with No End in Sight

45. Redefining the Etiologic Landscape of Cerebellar Malformations

46. Mutations in the translocon‐associated protein complex subunitSSR3cause a novel congenital disorder of glycosylation

47. BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

48. Response to Hamosh et al

49. Centering Equity in Human Genetics and Genomics Advances

50. DIAPH1 Variants in Non–East Asian Patients With Sporadic Moyamoya Disease

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