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46 results on '"Bridget A. Fernandez"'

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

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

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

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

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

6. 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

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

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

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

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

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

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

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

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

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

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

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

18. Contribution of SHANK3 Mutations to Autism Spectrum Disorder

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

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

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

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

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

24. 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

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

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

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

28. Individual common variants exert weak effects on the risk for autism spectrum disorderspi

29. Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype

30. A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism

31. SHANK1 Deletions in Males with Autism Spectrum Disorder

32. Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome

34. Rare Copy Number Variation Discovery and Cross-Disorder Comparisons Identify Risk Genes for ADHD

35. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

36. Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder

37. A genome-wide scan for common alleles affecting risk for autism

38. Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder

39. Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

40. Structural variation of chromosomes in autism spectrum disorder

41. An inversion inv(4)(p12–p15.3) in autistic siblings implicates the 4p GABA receptor gene cluster

42. Human chromosome 7: DNA sequence and biology

43. Copy number variation analysis and sequencing of the X-linked mental retardation gene TSPAN7/TM4SF2 in patients with autism spectrum disorder

44. Breast Cancer Events Associated with Germline Mutations of the CDH1 Gene (Hereditary Diffuse Gastric Cancer)

45. Erratum: Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15

46. A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

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