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
•Journal Article
Glucocerebrosidase activity in Parkinson disease with and without GBA mutations (S7.003)
Roy N. Alcalay,Oren A. Levy,Cheryl Waters,Stanley Fahn,Blair Ford,Sheng-Han Kuo,Pietro Mazzoni,Karen Marder,Michael W. Pauciulo,William C. Nichols,Ziv Gan-Or,Guy A. Rouleau,Wendy K. Chung,Pavlina Wolf,Petra Oliva,Joan Keutzer,Xiaokui Zhang +16 more
TL;DR: Lower GCase activity is strongly associated GBA mutations and modestly with Parkinson’s disease after excluding all carriers, and highGCase activity in LRRK2 G2019S carriers may reflect a distinct pathogenic mechanism.
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25 mutations in stxbp3 contribute to very early onset of ibd, immunodeficiency and hearing loss
Judith R. Kelsen,Jodie Ouahed,Waldo A. Spessott,Kameron Kooshesh,Maria L. Sanmillan,Noor Dawany,Kathleen E. Sullivan,Kathryn E. Hamilton,Voytek Slowik,Sergey Nejentsev,João Farela Neves,Helena Flores,Wendy K. Chung,Ashley Wilson,Kwame Anyane Yeboa,Karen Wou,Preti Jain,Sophia Tollefson,Jonathan P. Evans,Neil Warner,Alexio M. Muise,Jeff Goldsmith,Agnes Toth-Petroczy,Dana Vuzman,Nikkola Carmichael,Corneliu Bodea,Christopher A. Cassa,Marcella Devoto,Richard L. Maas,Edward M. Behrens,Scott B. Snapper,Claudio G. Giraudo +31 more
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A deep intronic DLG4 variant resulting in DLG4-related synaptopathy.
TL;DR: It is demonstrated thatDLG4 mRNA expression is detectable in blood and the deep intronic variant gives rise to two alternative DLG4 transcripts, one of which includes a pseudoexon, thereby establishing the genetic diagnosis for the proband.
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Strong protective effect of the APOL1 p.N264K variant against G2-associated FSGS and kidney disease
Yask Gupta,David S. Friedman,Michelle McNulty,Atlas Khan,Brandon M. Lane,Chen Wang,Juntao Ke,Gina Y. Jin,Benjamin Wooden,Andrea L Knob,Tze Yin Lim,Gerald B. Appel,Kinsie Huggins,Lili Liu,Adele Mitrotti,Megan Chryst Stangl,Andrew S. Bomback,Rik Westland,Monica Bodria,Maddalena Marasa,Ning Shang,David J. Cohen,R. John Crew,William Morello,Pietro A. Canetta,Jai Radhakrishnan,Jeremiah Martino,Qingxue Liu,Wendy K. Chung,Angelica Espinoza,Yunhao Liu,Wei Wei,QiPing Feng,Chunhua Weng,Yilu Fang,Iftikhar J. Kullo,Mohammadreza Naderian,Nita A. Limdi,Marguerite R. Irvin,Hemant K. Tiwari,Sumit Mohan,Maya K. Rao,Geoffrey K. Dube,Ninad S. Chaudhary,Orlando M. Gutiérrez,Suzanne E. Judd,Mary Cushman,Leslie A. Lange,Ethan M. Lange,Daniel L. Bivona,Miguel Verbitsky,Cheryl Winkler,Jeffrey B. Kopp,Dominick Santoriello,Ibrahim Batal,S. Veloso,Brant Pinheiro,Eduardo A. Oliveira,Ana Cristina Simões e Silva,Isabella Pisani,Enrico Fiaccadori,Fangming Lin,Loreto Gesualdo,Antonio Amoroso,Gian Marco Ghiggeri,Vivette D. D'Agati,Riccardo Magistroni,Eimear E. Kenny,R. Loos,Giovanni Montini,Friedhelm Hildebrandt,Dirk S. Paul,Slavé Petrovski,David Goldstein,Matthias Kretzler,Rasheed Gbadegesin,Ali G. Gharavi,Krzysztof Kiryluk,Matthew G. Sampson,Martin R. Pollak,Simone Sanna-Cherchi +80 more
TL;DR: It is shown that the presence of the AP OL1 p.N264K missense variant, when co-inherited with the G2 APOL1 risk allele, substantially reduces the penetrance of the G1G2 and G2G2 high-risk genotypes by rendering these genotypes low-risk.
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