The role of the TCF4 gene in the phenotype of individuals with 18q segmental deletions

Por Hasi, Minire, Soileau, Bridgette, Sebold, Courtney, Hill, Annice, Hale, Daniel E., O’Donnell, Louise, Cody, Jannine D.
Publicado em 2011

High Resolution Genomic Analysis of 18q− using oligo-microarray Comparative Genomic Hybridization (aCGH)

Por Heard, Patricia L., Carter, Erika M., Crandall, AnaLisa C., Sebold, Courtney, Hale, Daniel E., Cody, Jannine D.
Publicado em 2009

Sensorineural hearing loss in people with deletions of 18q

Por Perry, Brian P., Sebold, Courtney, Hasi, Minire, Heard, Patricia, Carter, Erika, Hill, Annice, Gelfond, Jonathon, Hale, Daniel E., Cody, Jannine D.
Publicado em 2014

Establishing a reference group for distal 18q-: Clinical description and molecular basis

Por Cody, Jannine D., Hasi, Minire, Soileau, Bridgette, Heard, Patricia, Carter, Erika, Sebold, Courtney, O’Donnell, Louise, Perry, Brian, Stratton, Robert F., Hale, Daniel E.
Publicado em 2013

Narrowing Critical Regions and Determining Penetrance for Selected 18q- Phenotypes

Por Cody, Jannine D., Heard, Patricia L., Crandall, AnaLisa C., Carter, Erika M., Li, John, Hardies, L. Jean, Lancaster, Jack, Perry, Brian, Stratton, Robert F., Sebold, Courtney, Schaub, Rebecca L., Soileau, Bridgette, Hill, Annice, Hasi, Minire, Fox, Peter T., Hale, Daniel E.
Publicado no Am J Med Genet A (2009)

HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study

Por Friez, Michael J, Brooks, Susan Sklower, Stevenson, Roger E, Field, Michael, Basehore, Monica J, Adès, Lesley C, Sebold, Courtney, McGee, Stephen, Saxon, Samantha, Skinner, Cindy, Craig, Maria E, Murray, Lucy, Simensen, Richard J, Yap, Ying Yzu, Shaw, Marie A, Gardner, Alison, Corbett, Mark, Kumar, Raman, Bosshard, Matthias, van Loon, Barbara, Tarpey, Patrick S, Abidi, Fatima, Gecz, Jozef, Schwartz, Charles E
Publicado no BMJ Open (2016)