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81 results on '"Bridget A. Fernandez"'

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1. Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder

2. Genomic architecture of Autism Spectrum Disorder from comprehensive whole-genome sequence annotation

3. Genomic architecture of autism from comprehensive whole-genome sequence annotation

4. Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder

5. Genome-wide detection of tandem DNA repeats expanded in autism

6. PSE Interim Guidelines for Enhanced Quality and Safety at the Echocardiography Laboratory Amidst Emerging Infections - Summary Recommendations from the Task Force on Quality and Safety during Echocardiography of the Philippine Society of Echocardiography, Inc. and the Philippine Heart Association Council on Echocardiography (AN EXECUTIVE SUMMARY)

7. Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing

8. A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features

9. A large data resource of genomic copy number variation across neurodevelopmental disorders

10. Cardiac arrest in a mother and daughter and the identification of a novel RYR2 variant, predisposing to low penetrant catecholaminergic polymorphic ventricular tachycardia in a four-generation Canadian family

11. Familial Intracranial Aneurysm in Newfoundland: Clinical and Genetic Analysis

12. Segregating patterns of copy number variations in extended autism spectrum disorder (ASD) pedigrees

13. Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss

14. Syndromic autism spectrum disorders: moving from a clinically defined to a molecularly defined approach

15. A genome-wide linkage study of autism spectrum disorder and the broad autism phenotype in extended pedigrees

16. Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care

17. Incidence and cohort prevalence for autism spectrum disorders in the Avalon Peninsula, Newfoundland and Labrador

18. Whole-genome sequencing of quartet families with autism spectrum disorder

19. Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia

20. Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

21. Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes

22. Synaptic, transcriptional, and chromatin genes disrupted in autism

23. Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders

24. Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion

25. A Discovery Resource of Rare Copy Number Variations in Individuals with Autism Spectrum Disorder

26. Rare Deletions at the Neurexin 3 Locus in Autism Spectrum Disorder

27. A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

28. Using next-generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities

29. A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly

30. Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome

31. Contribution of SHANK3 Mutations to Autism Spectrum Disorder

32. Reduction in Neural-Tube Defects after Folic Acid Fortification in Canada

33. Male-to-female sex reversal associated with an ∼250 kb deletion upstream of NR0B1 (DAX1)

34. Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations

35. Primary Adrenocortical Insufficiency Case Series: Genetic Etiologies More Common than Expected

36. Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond

37. Bayesian Small Area Cluster Analysis of Neural Tube Defects in Newfoundland

38. Holoprosencephaly and cleidocranial dysplasia in a patient due to two position-effect mutations: case report and review of the literature

39. The Newfoundland population: a unique resource for genetic investigation of complex diseases

40. Predictive, pre-natal and diagnostic genetic testing for Huntington's disease: the experience in Canada from 1987 to 2000

41. Correspondence

42. The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position statement of the Canadian College of medical geneticists

43. Molecular Genetic Studies of Human Chromosome 7 in Russell–Silver Syndrome

44. Disruption of the ASTN2 / TRIM32 locus at 9q33.1 is a risk factor in males for Autism Spectrum Disorders, ADHD and other neurodevelopmental phenotypes

45. Compound heterozygosity for the achondroplasia-hypochondroplasia FGFR3 mutations: Prenatal diagnosis and postnatal outcome

46. 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

47. A molecular genetic study of autism and related phenotypes in extended pedigrees

48. Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures

49. Genome-wide characteristics of de novo mutations in autism

50. Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L

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