C
Courtney Sebold
Researcher at University of Texas Health Science Center at San Antonio
Publications - 28
Citations - 1305
Courtney Sebold is an academic researcher from University of Texas Health Science Center at San Antonio. The author has contributed to research in topics: Chromosome 18 & Tetrasomy 18p. The author has an hindex of 14, co-authored 28 publications receiving 1198 citations. Previous affiliations of Courtney Sebold include University of Texas at San Antonio & University of Cincinnati.
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Journal ArticleDOI
Founder and Recurrent CDH1 Mutations in Families With Hereditary Diffuse Gastric Cancer
Pardeep Kaurah,Andrée MacMillan,Niki Boyd,Janine Senz,Alessandro De Luca,Nicki Chun,Gianpaolo Suriano,Sonya Zaor,Lori Van Manen,Cathy Gilpin,Sarah M. Nikkel,Mary Connolly-Wilson,Scott M. Weissman,Wendy S. Rubinstein,Courtney Sebold,Robert M. Greenstein,Jennifer Stroop,Dwight Yim,Benoit Panzini,Wendy McKinnon,Marc S. Greenblatt,Debrah Wirtzfeld,Daniel Fontaine,Daniel G. Coit,Sam S. Yoon,Daniel C. Chung,Gregory Y. Lauwers,Antonio Pizzuti,Carlos A. Vaccaro,Maria Ana Redal,Carla Oliveira,Marc Tischkowitz,Sylviane Olschwang,Steven Gallinger,Henry T. Lynch,Jane Green,James M. Ford,Paul D.P. Pharoah,Bridget A. Fernandez,Bridget A. Fernandez,David G. Huntsman +40 more
TL;DR: Recurrent CDH1 mutations in families with hereditary diffuse gastric cancer are due to both independent mutational events and common ancestry, and the presence of a founder mutation from Newfoundland is strongly supported.
Journal Article
Founder and Recurrent CDH1 mutations in families with Hereditary diffuse gastric Cancer. Editorial
Pardeep Kaurah,Andrée MacMillan,Niki Boyd,Janine Senz,Alessandro De Luca,Nicki Chun,Gianpaolo Suriano,Sonya Zaor,Lori Van Manen,Cathy Gilpin,Sarah M. Nikkel,Mary Connolly-Wilson,Scott M. Weissman,Wendy S. Rubinstein,Courtney Sebold,Robert M. Greenstein,Jennifer Stroop,Dwight Yim,Benoit Panzini,Wendy Mekinnon,Marc S. Greenblatt,Debrah Wirtzfeld,Daniel Fontaine,Daniel G. Coit,Sam S. Yoon,Daniel C. Chung,Gregory Y. Lauwers,Antonio Pizzuti,Carlos A. Vaccaro,Maria Ana Redal,Carla Oliveira,Marc Tischkowitz,Sylviane Olschwang,Steven Gallinger,Henry T. Lynch,Jane Green,James M. Ford,Paul D.P. Pharoah,Bridget A. Fernandez,David G. Huntsman,Kirsten N. Kangelaris,Stephen B. Gruber +41 more
TL;DR: In this paper, the authors performed a haplotype analysis to determine whether recurring germline CDH1 mutations occurred due to independent mutational events or common ancestry in 28 families diagnosed clinically with hereditary diffuse gastric cancer.
Journal ArticleDOI
Neurofibromatosis Type 1 in Genetic Counseling Practice: Recommendations of the National Society of Genetic Counselors
TL;DR: These recommendations are the opinions of a multi-center working group of genetic counselors with expertise in the care of individuals with NF1 based on the committee's clinical experiences, a review of pertinent English language medical articles, and reports of expert committees.
Journal ArticleDOI
Tetrasomy 18p: report of the molecular and clinical findings of 43 individuals.
Courtney Sebold,Elizabeth Roeder,Marsha Zimmerman,Bridgette Soileau,Patricia Heard,Erika Carter,Martha P. Schatz,W. Abraham White,Brian Perry,Kent A. Reinker,Louise O'Donnell,Jack L. Lancaster,John Li,Minire Hasi,Annice Hill,Lauren Pankratz,Daniel E. Hale,Jannine D. Cody +17 more
TL;DR: The phenotypic description of tetrasomy 18p is expanded to include neonatal jaundice and respiratory distress; recurrent otitis media; hearing loss; seizures; refractive errors; constipation and gastroesophageal reflux; cryptorchidism; heart defects; and foot anomalies.
Journal ArticleDOI
High resolution genomic analysis of 18q− using oligo‐microarray comparative genomic hybridization (aCGH)
Patricia Heard,Erika Carter,AnaLisa C. Crandall,Courtney Sebold,Daniel E. Hale,Jannine D. Cody +5 more
TL;DR: A higher level of variability and genomic complexity surrounding deletions of 18q than has previously been appreciated is confirmed, confirming the presence of occult translocations creating additional deletions and duplications.