748 results on '"FitzPatrick, David R"'
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2. Single-cell analyses reveal transient retinal progenitor cells in the ciliary margin of developing human retina
3. Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features
4. GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder
5. Detection of mosaic chromosomal alterations in children with severe developmental disorders recruited to the DDD study
6. NAA10 polyadenylation signal variants cause syndromic microphthalmia
7. Recommendations for clinical interpretation of variants found in non-coding regions of the genome
8. De novo mutations in regulatory elements in neurodevelopmental disorders.
9. Participants aux Davidson's Principles and Practice of Medicine, 23eédition
10. Orofacial clefts
11. A human embryonic limb cell atlas resolved in space and time
12. Quantifying the contribution of recessive coding variation to developmental disorders
13. Cornelia de Lange syndrome-associated mutations cause a DNA damage signalling and repair defect
14. Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction
15. Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.
16. Heterozygous Loss-of-Function Mutations in YAP1 Cause Both Isolated and Syndromic Optic Fissure Closure Defects
17. Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia.
18. Heterozygous loss-of-functionSMC3variants are associated with variable and incompletely penetrant growth and developmental features
19. Cardiac Genetic Predisposition in Sudden Infant Death Syndrome
20. Fine Tuning of Craniofacial Morphology by Distant-Acting Enhancers
21. The genetic architecture of aniridia and Gillespie syndrome
22. Evolutionarily Conserved Sequence Elements That Positively Regulate IFN-γ Expression in T Cells
23. A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction.
24. Deep mutational scanning quantifies DNA binding and predicts clinical outcomes of PAX6 variants
25. Single-Cell Perforin and Granzyme Expression Reveals the Anatomical Localization of Effector CD8 + T Cells in Influenza Virus-Infected Mice
26. Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals
27. HPP1: A Transmembrane Protein-Encoding Gene Commonly Methylated in Colorectal Polyps and Cancers
28. Common genetic variants contribute to risk of rare severe neurodevelopmental disorders
29. BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange–like syndrome
30. Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland
31. Optimizing the Diagnosis of Rare Genomic Disease in the UK and Ireland
32. Contribution of retrotransposition to developmental disorders
33. Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP
34. EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders.
35. Characterization of an eye field-like state during optic vesicle organoid development.
36. IMPROVE-DD: Integrating multiple phenotype resources optimizes variant evaluation in genetically determined developmental disorders
37. A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation
38. Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data
39. Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia
40. Author Reply to Peer Reviews of Characterization of an Eye Field-like State during Optic Vesicle Organoid Development
41. Importance of adopting standardized MANE transcripts in clinical reporting
42. Robust Genetic Analysis of the X-Linked Anophthalmic (Ie) Mouse
43. Whole genome sequencing of ‘mutation-negative’ individuals with Cornelia de Lange Syndrome
44. Characterization of an Eye Field-like State during Optic Vesicle Organoid Development
45. Robust genetic analysis of the X-linked anophthalmic (Ie) mouse
46. The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources
47. A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX
48. The genetic architecture of microphthalmia, anophthalmia and coloboma
49. Developmental biology of the eye
50. List of Contributors
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