The Consequences of Abnormal Gene Dosage: Lessons from Chromosome 18 von Cody, Jannine DeMars

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Re-evaluation of the classification system for the clinical interpretation of genomic copy number variation von Cody, Jannine D.

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Large inverted duplications in the human genome form via a fold-back mechanism von Hermetz, Karen E, Newman, Scott, Conneely, Karen N, Martin, Christa L, Ballif, Blake C, Shaffer, Lisa G, Cody, Jannine D, Rudd, M Katharine

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Causes of death in individuals with trisomy 18 after the first year of life von Mehl, Justin M., Gelfond, Jonathan, Carey, John C., Cody, Jannine D.

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Understanding type and quality of relationships between individuals with chromosome 18 syndromes and their siblings von Larson, Catherine Cody, O'Donnell, Louise, Soileau, Bridgette, Van Riper, Marcia, Stark, Debra, Hale, Daniel E., Cody, Jannine D.

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Chromosome 18 gene dosage map 2.0 von Cody, Jannine D., Heard, Patricia, Rupert, David, Hasi-Zogaj, Minire, Hill, Annice, Sebold, Courtney, Hale, Daniel E.

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P138: Causes of death and associated factors in patients with trisomy 18 syndrome and long-term survival von Carey, John, Cody, Jannine, Mehl, Justin, Gelfond, Jonathan

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Whole arm deletions of 18p: Medical and developmental effects von Sebold, Courtney, Soileau, Bridgette, Heard, Patricia, Carter, Erika, O'Donnell, Louise, Hale, Daniel E., Cody, Jannine D.

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Otologic characteristics of individuals with deletions of distal 18q von Perry, Brian P., Cody, Jannine D.

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Establishing a reference group for distal 18q-: clinical description and molecular basis von Cody, Jannine D., Hasi, Minire, Soileau, Bridgette, Heard, Patricia, Carter, Erika, Sebold, Courtney, O’Donnell, Louise, Perry, Brian, Stratton, Robert F., Hale, Daniel E.

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The role of the TCF4 gene in the phenotype of individuals with 18q segmental deletions von Hasi, Minire, Soileau, Bridgette, Sebold, Courtney, Hill, Annice, Hale, Daniel E., O’Donnell, Louise, Cody, Jannine D.

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Abnormal bone mineral content and density in people with tetrasomy 18p von Moreira, Alvaro, Das, Hrishikesh, Hasi‐Zogaj, Minire, Soileau, Bridgette, Hill, Annice, Bruder, Jan M., Hale, Daniel E., Cody, Jannine D.

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Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements von Luo, Yue, Hermetz, Karen E., Jackson, Jodi M., Mulle, Jennifer G., Dodd, Anne, Tsuchiya, Karen D., Ballif, Blake C., Shaffer, Lisa G., Cody, Jannine D., Ledbetter, David H., Martin, Christa L., Rudd, M. Katharine

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Tetrasomy 18p: Report of cognitive and behavioral characteristics von O'Donnell, Louise, Soileau, Bridgette T., Sebold, Courtney, Gelfond, Jonathan, Hale, Daniel E., Cody, Jannine D.

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Ring 18 molecular assessment and clinical consequences von Carter, Erika, Heard, Patricia, Hasi, Minire, Soileau, Bridgette, Sebold, Courtney, Hale, Daniel E., Cody, Jannine D.

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Hemizygosity for SMCHD1 in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome von Lemmers, Richard J. L. F., van den Boogaard, Marlinde L., van der Vliet, Patrick J., Donlin-Smith, Colleen M., Nations, Sharon P., Ruivenkamp, Claudia A. L., Heard, Patricia, Bakker, Bert, Tapscott, Stephen, Cody, Jannine D., Tawil, Rabi, van der Maarel, Silvère M.

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Differential expression analysis with global network adjustment von Gelfond, Jonathan A, Ibrahim, Joseph G, Gupta, Mayetri, Chen, Ming-Hui, Cody, Jannine D

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A recurrent translocation is mediated by homologous recombination between HERV-H elements von Hermetz, Karen E, Surti, Urvashi, Cody, Jannine D, Rudd, M Katharine

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Adults with Chromosome 18 Abnormalities von Soileau, Bridgette, Hasi, Minire, Sebold, Courtney, Hill, Annice, O’Donnell, Louise, Hale, Daniel E., Cody, Jannine D.

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Three Novel Mutations in SQSTM1 Identified in Familial Paget's Disease of Bone von Johnson‐Pais, Teresa L, Wisdom, Julie H, Weldon, Korri S, Cody, Jannine D, Hansen, Marc F, Singer, Frederick R, Leach, Robin J

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