Publications
Abnormal bone mineral content and density in people with Tetrasomy 18
Moreira A, Das H, Hasi-Zogaj M, Soileau B, Hill A, Bruder JM, Hale DE, Cody JD. (2019) Abnormal bone mineral content and density in people with tetrasomy 18. Am J Med Genet A 2019 Jan 13, doi: 10.1102/ajmg.a.61005. [Epub ahead of print] PMID: 30637922
Chromosome 18 gene dosage map 2.0
Cody JD, Heard P, Rupert D, Hasi-Zogaj M, Hill A, Sebold C, Hale DE. (2018) Chromosome 18 gene dosage map 2.0. Hum Genet 137(11-12):961-970. Doi: 10.1007/s00439-018-1960-6. Epub 2018 Nov 17, PMID: 30448861.
Monosomy 18p is a risk factor for FSHD
Balog J, Goossens R, Lemmers RJLF, Straasheijm KR, van der Vliet PJ, van den Heuvel A, Cambieri C, Capet N, Feasson L, Manel V, Contet J, Kriek M, Donlin-Smith CM, Ruivenkamp CAL, Heard P, Tapscott SJ, Cody JD, Tawil R, Sacconi S, van der Maarel S. (2018) Monosomy 18p is a risk factor for FSHD. J Med Genet 55(7):467- 478. doi: 10.1136/jmedgenet-2017-105153
The Chromosome 18 Clinical Resource Center
Cody JD, Hasi-Zogaj M, Heard P, Hill A, Rupert D, Sebold C, Soileau B, Hale DE. (2018) The Chromosome 18 Clinical Resource Center. Mol Genet Genomic Med 6(3):416-421, doi: 10.1002/mgg3.385.
WNT/β-catenin pathway and epigenetic mechanisms regulate the Pitt-Hopkins syndrome and schizophrenia risk gene TCF4
Hennig KM, Fass DM, Zhao WN, Sheridan SD, Fu T, Erdin S, Stortchevoi A, Lucente D, Cody JD, Sweetser D, Gusella JF, Talkowski ME, Haggarty SJ. (2018) WNT/β-catenin pathway and epigenetic mechanisms regulate the Pitt- Hopkins syndrome and schizophrenia risk gene TCF4. Mol Neuropsychiatry 3:53-71.
A Review of 18p Deletions
Hasi-Zogaj M, Sebold C, Heard P, Carter E, Soileau B, Hill A, Rupert D, Perry P, Atkinson S, O’Donnell L, Gelfond J, Lancaster J, Fox PT, Hale DE, Cody JD. (2015) A review of 18p deletions. Am J Med Genet Part C (Semin Med Genet) 169C:251-264, doi: 10.1002/ajmg.c.31445.
Consequences of chromosome 18q deletions
Cody JD, Sebold C, Heard P, Carter E, Soileau B, Hasi-Zogaj M, Hill A, Rupert D, Perry P, O’Donnell L, Gelfond J, Lancaster J, Fox PT, Hale DE. (2015) Consequences of chromosome 18q deletions. Am J Med Genet Part C (Semin Med Genet) 169C:265-280, doi: 10.1002/ajmg.c.31446.
Making chromosome abnormalities treatable conditions
Cody JD & Hale DE. (2015) Making chromosome abnormalities treatable conditions. Am J Med Genet Part C (Semin Med Genet) 169C:209-215, doi: 10.1002/ajmg.c.31447.
Hemizygosity for SMCHD1 in facioscapulohumeral muscular dystrophy type 2: consequences for 18p deletion syndrome
Lemmers RJLF, van den Boogaard ML, van der Vliet PJ, Donlin-Smith CM, Nations SP, Ruivenkamp CAL, Heard P, Bakker B, Tapscott S, Cody JD, Tawil R, van der Maarel SM. (2015) Hemizygosity for SMCHD1 in facioscapulohumeral muscular dystrophy type 2: consequences for 18p deletion syndrome. Hum Mutat 36(7):679-683.
Tetrasomy 18p: report of cognitive and behavioral characteristics
O’Donnell L, Soileau B, Sebold C, Gelfond J, Hale DE, Cody JD. (2015) Tetrasomy 18p: report of cognitive and behavioral characteristics. Am J Med Genet Part A 167A:1474-1482.