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2. A minimal role for synonymous variation in human disease

3. A cross-disorder dosage sensitivity map of the human genome

4. The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources

5. Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms

6. Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders

7. Evaluating variants classified as pathogenic in ClinVar in the DDD Study

8. Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms

9. Launch of the gene curation coalition database

11. Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms

13. Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

14. Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

15. Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

16. Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

17. Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies

18. Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

19. Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders

20. Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

21. Clinical and molecular consequences of disease-associated de novo mutations in SATB2

22. International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

23. An Organismal CNV Mutator Phenotype Restricted to Early Human Development

25. Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy

26. A Method to Exploit the Structure of Genetic Ancestry Space to Enhance Case-Control Studies

27. Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans

28. Monoallelic and Biallelic Mutations in MAB21L2 Cause a Spectrum of Major Eye Malformations

29. Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect

31. Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

32. Absence of Heterozygosity Due to Template Switching during Replicative Rearrangements

33. Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans

34. De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability

35. Reciprocal Duplication of the Williams-Beuren Syndrome Deletion on Chromosome 7q11.23 Is Associated with Schizophrenia

36. Heterozygous Loss-of-Function Mutations in YAP1 Cause Both Isolated and Syndromic Optic Fissure Closure Defects

37. Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy

38. TM4SF20 Ancestral Deletion and Susceptibility to a Pediatric Disorder of Early Language Delay and Cerebral White Matter Hyperintensities

39. Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan

40. NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease

41. Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia

42. Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan

43. Genetic Basis of Y-Linked Hearing Impairment

44. Genomic Pathology of SLE-Associated Copy-Number Variation at the FCGR2C/FCGR3B/FCGR2B Locus

45. Harnessing genomics to identify environmental determinants of heritable disease

46. Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry

47. Genome-wide Transcriptome Profiling Reveals the Functional Impact of Rare De Novo and Recurrent CNVs in Autism Spectrum Disorders

49. Adaptive Evolution of UGT2B17 Copy-Number Variation

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