Wendy K. Chung
Columbia University
780 Papers
2.9K Citations
Wendy K. Chung is an academic researcher from Columbia University. The author has contributed to research in topics: Medicine & Biology. The author has an hindex of 90, co-authored 649 publications. Previous affiliations of Wendy K. Chung include Rockefeller University & NewYork–Presbyterian Hospital.
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Papers
The Role of Parental Cognitive, Behavioral, and Motor Profiles in Clinical Variability in Individuals With Chromosome 16p11.2 Deletions
Andres Moreno-De-Luca,David W. Evans,David W. Evans,K. B. Boomer,Ellen Hanson,Ellen Hanson,Raphael Bernier,Robin P. Goin-Kochel,Scott M. Myers,Scott M. Myers,Thomas D. Challman,Thomas D. Challman,Daniel Moreno-De-Luca,Mylissa M. Slane,Abby Hare,Wendy K. Chung,John E. Spiro,W. Andrew Faucett,Christa Lese Martin,David H. Ledbetter,David H. Ledbetter +20 more
TL;DR: Analysis of families with de novo CNVs provides the least confounded estimate of the effect size of the 16p11.2 deletion and significant parent-proband correlations indicate that family background contributes to the phenotypic variability seen in this and perhaps other CNV disorders and may have implications for counseling families regarding their children's developmental and psychiatric prognoses.
Psychiatric disorders in children with 16p11.2 deletion and duplication.
Maria Niarchou,Maria Niarchou,Samuel J.R.A. Chawner,Joanne L. Doherty,Anne M. Maillard,Sébastien Jacquemont,Wendy K. Chung,LeeAnne Green-Snyder,Raphael Bernier,Robin P. Goin-Kochel,Ellen Hanson,David Edmund Johannes Linden,Stefanie C. Linden,F. Lucy Raymond,David Skuse,Jeremy Hall,Jeremy Hall,Michael John Owen,Marianne Bernadette van den Bree +18 more
TL;DR: Both deletion and duplication are associated with an increased risk of psychiatric disorder, supporting the importance of early recognition, diagnosis, and intervention in these groups, and no differences between deletion and duplications carriers in the prevalence of ASD were found.
137
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.
Justyna A. Karolak,Justyna A. Karolak,Marie Vincent,Gail H. Deutsch,Tomasz Gambin,Benjamin Cogné,Olivier Pichon,Francesco Vetrini,Heather C Mefford,Jennifer N. Dines,Katie Golden-Grant,Katrina M. Dipple,Katrina M. Dipple,Amanda S. Freed,Kathleen A. Leppig,Megan K. Dishop,David Mowat,David Mowat,Bruce Bennetts,Bruce Bennetts,Andrew J. Gifford,Martin A. Weber,Anna F. Lee,Cornelius F. Boerkoel,Tina M. Bartell,Catherine Ward-Melver,Thomas Besnard,Florence Petit,Iben Bache,Iben Bache,Zeynep Tümer,Zeynep Tümer,Marie Denis-Musquer,Madeleine Joubert,Jelena Martinovic,Claire Beneteau,Arnaud Molin,Dominique Carles,Gwenaelle André,Eric Bieth,Nicolas Chassaing,Louise Devisme,Lara Chalabreysse,Laurent Pasquier,Véronique Secq,Massimiliano Don,Maria Orsaria,Chantal Missirian,Jérémie Mortreux,Damien Sanlaville,Linda Pons,Sébastien Küry,Stéphane Bézieau,Jean Michel Liet,Nicolas Joram,Tiphaine Bihouée,Daryl A. Scott,Daryl A. Scott,Chester W. Brown,Fernando Scaglia,Fernando Scaglia,Fernando Scaglia,Anne Chun Hui Tsai,Dorothy K. Grange,John A. Phillips,Jean P. Pfotenhauer,Shalini N. Jhangiani,Claudia Gonzaga-Jauregui,Wendy K. Chung,Galen M. Schauer,Mark H. Lipson,Catherine Mercer,Arie van Haeringen,Qian Liu,Edwina J. Popek,Zeynep Coban Akdemir,James R. Lupski,Przemyslaw Szafranski,Bertrand Isidor,Cédric Le Caignec,Pawel Stankiewicz,Pawel Stankiewicz +81 more
TL;DR: The occurrence of rare coding variants involving TBX4 or FGF10 with the putative hypomorphic non-coding SNVs implies a complex compound inheritance of these pulmonary hypoplasias and supports the importance ofTBX4-FGF10-FGFR2 epithelial-mesenchymal signaling in human lung organogenesis and helps explain the histopathological continuum observed in these rare lethal developmental disorders of the lung.
137
CANOES: detecting rare copy number variants from whole exome sequencing data
Daniel Backenroth,Jason Homsy,Laura R. Murillo,J. Glessner,Edwin Lin,Martina Brueckner,Richard P. Lifton,Richard P. Lifton,Elizabeth Goldmuntz,Wendy K. Chung,Yufeng Shen +10 more
TL;DR: The CANOES method is complementary to Gaussian approximation-based methods (e.g. XHMM or CoNIFER) and when used in combination with these methods will be possible to produce high accuracy calls, as demonstrated by a much reduced and more realistic de novo rate in results from trio data.
MVP predicts the pathogenicity of missense variants by deep learning.
Hongjian Qi,Haicang Zhang,Yige Zhao,Chen Chen,John J. Long,Wendy K. Chung,Yongtao Guan,Yufeng Shen +7 more
TL;DR: In this paper, a deep residual network is used to predict pathogenicity of missense variants in a set of genes that are intolerant of loss of function variants and those that are tolerant in order to take account of potentially different genetic effect size and mode of action.