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Page 1
Growth reference charts for children with hypochondroplasia.
Cheung MS, Cole TJ, Arundel P, Bridges N, Burren CP, Cole T, Davies JH, Hagenäs L, Högler W, Hulse A, Mason A, McDonnell C, Merker A, Mohnike K, Sabir A, Skae M, Rothenbuhler A, Warner J, Irving M. Cheung MS, et al. Among authors: burren cp. Am J Med Genet A. 2024 Feb;194(2):243-252. doi: 10.1002/ajmg.a.63431. Epub 2023 Oct 9. Am J Med Genet A. 2024. PMID: 37814549
Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1.
Pagnamenta AT, Yu J, Evans J, Twiss P; Genomics England Research Consortium; Musculoskeletal GeCIP MDT; Offiah AC, Wafik M, Mehta SG, Javaid MK, Smithson SF, Taylor JC. Pagnamenta AT, et al. J Med Genet. 2023 May;60(5):505-510. doi: 10.1136/jmg-2022-108753. Epub 2022 Nov 21. J Med Genet. 2023. PMID: 36411030 Free PMC article.
A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project.
Blakes AJM, Wai HA, Davies I, Moledina HE, Ruiz A, Thomas T, Bunyan D, Thomas NS, Burren CP, Greenhalgh L, Lees M, Pichini A, Smithson SF, Taylor Tavares AL, O'Donovan P, Douglas AGL; Genomics England Research Consortium, Splicing and Disease Working Group; Whiffin N, Baralle D, Lord J. Blakes AJM, et al. Among authors: burren cp. Genome Med. 2022 Jul 26;14(1):79. doi: 10.1186/s13073-022-01087-x. Genome Med. 2022. PMID: 35883178 Free PMC article.
Monitoring Skull Base Abnormalities in Children with Osteogenesis Imperfecta - Review of Current Practice and a Suggested Clinical Pathway.
Wadanamby S, El Garwany S, Connolly D, Arundel P, Bishop NJ, DeVile CJ, Calder AD, Crowe B, Burren CP, Saraff V; Highly Specialised Service for Severe, Complex and Atypical Osteogenesis Imperfecta (NHS England); Offiah AC. Wadanamby S, et al. Among authors: burren cp. Bone. 2022 Jan;154:116235. doi: 10.1016/j.bone.2021.116235. Epub 2021 Oct 22. Bone. 2022. PMID: 34688943 Free article.
AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelination.
Edgerley K, Barnicoat A, Offiah AC, Calder AD, Mankad K, Thomas NS, Bunyan DJ, Williams M, Buxton C, Majumdar A, Vijayakumar K, Hilliard T, Turner J, Burren CP, Monsell F, Smithson SF. Edgerley K, et al. Among authors: burren cp. Am J Med Genet A. 2021 Apr;185(4):1228-1235. doi: 10.1002/ajmg.a.62072. Epub 2021 Jan 13. Am J Med Genet A. 2021. PMID: 33439541 Free article.
51 results