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181 results

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Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project.
Moore AR, Yu J, Pei Y, Cheng EWY, Taylor Tavares AL, Walker WT, Thomas NS, Kamath A, Ibitoye R, Josifova D, Wilsdon A, Ross A, Calder AD, Offiah AC, Wilkie AOM; Genomics England Research Consortium; Taylor JC, Pagnamenta AT. Moore AR, et al. Among authors: offiah ac. J Med Genet. 2023 Nov 27;60(12):1235-1244. doi: 10.1136/jmg-2023-109362. J Med Genet. 2023. PMID: 37558402 Free PMC article.
Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings.
Tooley M, Lynch D, Bernier F, Parboosingh J, Bhoj E, Zackai E, Calder A, Itasaki N, Wakeling E, Scott R, Lees M, Clayton-Smith J, Blyth M, Morton J, Shears D, Kini U, Homfray T, Clarke A, Barnicoat A, Wallis C, Hewitson R, Offiah A, Saunders M, Langton-Hewer S, Hilliard T, Davis P, Smithson S. Tooley M, et al. Am J Med Genet A. 2016 May;170A(5):1115-26. doi: 10.1002/ajmg.a.37587. Epub 2016 Mar 12. Am J Med Genet A. 2016. PMID: 26971886
PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new cases.
Bownass L, Abbs S, Armstrong R, Baujat G, Behzadi G, Berentsen RD, Burren C, Calder A, Cormier-Daire V, Newbury-Ecob R, Foulds N, Juliusson PB, Kant SG, Lefroy H, Mehta SG, Merckoll E, Michot C, Monsell F, Offiah AC, Richards A, Rosendahl K, Rustad CF, Shears D, Tveten K, Wellesley D, Wordsworth P; Deciphering Developmental Disorders Study; Smithson S. Bownass L, et al. Among authors: offiah ac. Am J Med Genet A. 2019 Sep;179(9):1884-1894. doi: 10.1002/ajmg.a.61282. Epub 2019 Jul 16. Am J Med Genet A. 2019. PMID: 31313512 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: offiah ac. 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.
Sibling screening in suspected abusive head trauma: a proposed guideline.
Mankad K, Sidpra J, Oates AJ, Calder A, Offiah AC, Choudhary A. Mankad K, et al. Among authors: offiah ac. Pediatr Radiol. 2021 May;51(6):872-875. doi: 10.1007/s00247-020-04917-5. Epub 2021 May 17. Pediatr Radiol. 2021. PMID: 33999232 Free PMC article. Review.
Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era.
Sabir AH, Morley E, Sheikh J, Calder AD, Beleza-Meireles A, Cheung MS, Cocca A, Jansson M, Lillis S, Patel Y, Yau S, Hall CM, Offiah AC, Irving M. Sabir AH, et al. Among authors: offiah ac. BMC Med Genomics. 2021 Jun 6;14(1):148. doi: 10.1186/s12920-021-00993-0. BMC Med Genomics. 2021. PMID: 34092239 Free PMC article.
Expanding the phenotype of SPARC-related osteogenesis imperfecta: clinical findings in two patients with pathogenic variants in SPARC and literature review.
Durkin A, DeVile C, Arundel P, Bull M, Walsh J, Bishop NJ, Hupin E, Parekh S, Nadarajah R, Offiah AC, Calder A, Brock J, Baker D, Balasubramanian M. Durkin A, et al. Among authors: offiah ac. J Med Genet. 2022 Aug;59(8):810-816. doi: 10.1136/jmedgenet-2021-107942. Epub 2021 Aug 30. J Med Genet. 2022. PMID: 34462290 Free article. Review.
181 results