K
Kathryn Platky
Researcher at University of Louisville
Publications - 2
Citations - 605
Kathryn Platky is an academic researcher from University of Louisville. The author has contributed to research in topics: Proband & Penetrance. The author has an hindex of 2, co-authored 2 publications receiving 565 citations.
Papers
More filters
Journal ArticleDOI
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
Santhosh Girirajan,Jill A. Rosenfeld,Gregory M. Cooper,Francesca Antonacci,Priscillia Siswara,Andy Itsara,Laura Vives,Tom Walsh,Shane McCarthy,Carl Baker,Heather C Mefford,Jeffrey M. Kidd,Sharon R. Browning,Brian L. Browning,Diane E. Dickel,Deborah L. Levy,Blake C. Ballif,Kathryn Platky,Darren Farber,Gordon C. Gowans,Jessica J. Wetherbee,Alexander Asamoah,David D. Weaver,Paul R. Mark,Jennifer Dickerson,Bhuwan P. Garg,Sara Ellingwood,Rosemarie Smith,Valerie Banks,Wendy E. Smith,Marie T. McDonald,Joe J. Hoo,Beatrice N. French,Cindy Hudson,John P. Johnson,Jillian R Ozmore,John B. Moeschler,Urvashi Surti,Luis F. Escobar,Dima El-Khechen,Jerome L. Gorski,Jennifer Kussmann,Bonnie A. Salbert,Yves Lacassie,Alisha Biser,Donna M. McDonald-McGinn,Elaine H. Zackai,Matthew A. Deardorff,Tamim H. Shaikh,Eric Haan,Eric Haan,Kathryn Friend,Marco Fichera,Corrado Romano,Jozef Gecz,Jozef Gecz,Lynn E. DeLisi,Lynn E. DeLisi,Jonathan Sebat,Mary Claire King,Lisa G. Shaffer,Evan E. Eichler +61 more
TL;DR: The data support a two-hit model in which the 16p12.1 microdeletion both predisposes to neuropsychiatric phenotypes as a single event and exacerbates neurodevelopmental phenotypes in association with other large deletions or duplications.
Journal ArticleDOI
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.
Pawel Stankiewicz,Shashikant Kulkarni,Avinash V. Dharmadhikari,Srirangan Sampath,Samarth Bhatt,Tamim H. Shaikh,Zhilian Xia,Amber N. Pursley,M. Lance Cooper,Marwan Shinawi,Alex R. Paciorkowski,Dorothy K. Grange,Michael J. Noetzel,Scott Saunders,Paul S. Simons,Marshall L. Summar,Brendan Lee,Fernando Scaglia,Florence Fellmann,Danielle Martinet,Jacques S. Beckmann,Jacques S. Beckmann,Alexander Asamoah,Kathryn Platky,Susan Sparks,Ann Martin,Suneeta Madan-Khetarpal,Jacqueline M. Hoover,Livija Medne,Carsten G. Bönnemann,John B. Moeschler,Stephanie E. Vallee,Sumit Parikh,Polly Irwin,Victoria P. Dalzell,Wendy E. Smith,Valerie Banks,David B. Flannery,Carolyn Lovell,Gary Bellus,Kathryn Golden-Grant,Jerome L. Gorski,Jennifer Kussmann,Tracy L. McGregor,Rizwan Hamid,Jean P. Pfotenhauer,Blake C. Ballif,Chad A. Shaw,Sung-Hae L. Kang,Carlos A. Bacino,Ankita Patel,Jill A. Rosenfeld,Sau Wai Cheung,Lisa G. Shaffer +53 more
TL;DR: It is suggested that some of the other features present in more than one patient with deletion, including hypotonia, sleep apnea, chronic constipation, gastroesophageal and vesicoureteral refluxes, epilepsy, ataxia, dysphagia, nystagmus, and ptosis may result from deletion of the CHAT gene, encoding choline acetyltransferase, and the SLC18A3 gene.