Genetics and Genomics of Pediatric Pulmonary Arterial Hypertension

by Carrie L. Welch, Wendy K. Chung
Published 2020-10-01

Cancer Genetic Counselor Information Needs for Risk Communication: A Qualitative Evaluation of Interview Transcripts

by George Hripcsak, Rita Kukafka, Wendy K. Chung, Casey Lynnette Overby
Published 2013-09-01

Rare variant phasing and haplotypic expression from RNA sequencing with phASER

by Stephane E. Castel, Pejman Mohammadi, Wendy K. Chung, Yufeng Shen, Tuuli Lappalainen
Published 2016-09-01

Recurrent diffuse lung disease due to surfactant protein C deficiency

by Brigitte Kazzi, David Lederer, Emilio Arteaga-Solis, Anjali Saqi, Wendy K. Chung
Published 2018-01-01

Abnormal Vertical Eye Movements as a Clue for Diagnosis of Niemann–Pick Type C

by Deepak K. Gupta, Victor A. Blanco-Palmero, Wendy K. Chung, Sheng-Han Kuo
Published 2018-05-01

Circulating growth factor concentrations and breast cancer risk: a nested case-control study of IGF-1, IGFBP-3, and breast cancer in a family-based cohort

by Kelsey R. Monson, Mandy Goldberg, Hui-Chen Wu, Regina M. Santella, Wendy K. Chung, Mary Beth Terry
Published 2020-10-01

MVP predicts the pathogenicity of missense variants by deep learning

by Hongjian Qi, Haicang Zhang, Yige Zhao, Chen Chen, John J. Long, Wendy K. Chung, Yongtao Guan, Yufeng Shen
Published 2021-01-01

Congenital diaphragmatic hernias: from genes to mechanisms to therapies

by Gabrielle Kardon, Kate G. Ackerman, David J. McCulley, Yufeng Shen, Julia Wynn, Linshan Shang, Eric Bogenschutz, Xin Sun, Wendy K. Chung
Published 2017-08-01

Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes

by Zishan Wang, Xiao Fan, Yufeng Shen, Meghana S Pagadala, Rebecca Signer, Kamil J. Cygan, William G. Fairbrother, Hannah Carter, Wendy K. Chung, Kuan-lin Huang
Published 2021-09-01

Precision Medicine in Children and Young Adults with Hematologic Malignancies and Blood Disorders: The Columbia University Experience

by Lianna J. Marks, Jennifer A. Oberg, Danielle Pendrick, Anthony N. Sireci, Chana Glasser, Carrie Coval, Rebecca J. Zylber, Wendy K. Chung, Wendy K. Chung, Jiuhong Pang, Andrew T. Turk, Susan J. Hsiao, Mahesh M. Mansukhani, Mahesh M. Mansukhani, Julia L. Glade Bender, Julia L. Glade Bender, Andrew L. Kung, Maria Luisa Sulis, Maria Luisa Sulis
Published 2017-12-01

Association of allelic variation in genes mediating aspects of energy homeostasis with weight gain during administration of antipsychotic drugs (CATIE Study)

by Hemant K Tiwari, Amit ePatki, Jeffrey eLieberman, T. Scott eStroup, David B Allison, David B Allison, David B Allison, Rudolph L Leibel, Wendy K Chung
Published 2011-09-01

Deep whole-genome sequencing of multiple proband tissues and parental blood reveals the complex genetic etiology of congenital diaphragmatic hernias

by Eric L. Bogenschutz, Zac D. Fox, Andrew Farrell, Julia Wynn, Barry Moore, Lan Yu, Gudrun Aspelund, Gabor Marth, Mark Yandell, Yufeng Shen, Wendy K. Chung, Gabrielle Kardon
Published 2020-10-01

Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts

by David A. Zeevi, Wendy K. Chung, Chaim Levi, Sholem Y. Scher, Rachel Bringer, Yael Kahan, Hagit Muallem, Rinat Benel, Yoel Hirsch, Tzvi Weiden, Ahron Ekstein, Josef Ekstein
Published 2021-08-01

Functional Consequences of the <i>SCN5A</i>-p.Y1977N Mutation within the PY Ubiquitylation Motif: Discrepancy between HEK293 Cells and Transgenic Mice

by Simona Casini, Maxime Albesa, Zizun Wang, Vincent Portero, Daniela Ross-Kaschitza, Jean-Sébastien Rougier, Gerard A. Marchal, Wendy K. Chung, Connie R. Bezzina, Hugues Abriel, Carol Ann Remme
Published 2019-10-01

Abnormal auditory and language pathways in children with 16p11.2 deletion

by Jeffrey I. Berman, Darina Chudnovskaya, Lisa Blaskey, Emily Kuschner, Pratik Mukherjee, Randall Buckner, Srikantan Nagarajan, Wendy K. Chung, John E. Spiro, Elliott H. Sherr, Timothy P.L. Roberts
Published 2015-01-01

Identification and characterization of a novel DGAT1 missense mutation associated with congenital diarrhea[S]

by Nina L. Gluchowski, Chandramohan Chitraju, Joseph A. Picoraro, Niklas Mejhert, Shirly Pinto, Winnie Xin, Daniel S. Kamin, Harland S. Winter, Wendy K. Chung, Tobias C. Walther, Robert V. Farese, Jr.
Published 2017-06-01

Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder

by Lia Boyle, Lu Rao, Simranpreet Kaur, Xiao Fan, Caroline Mebane, Laura Hamm, Andrew Thornton, Jared T. Ahrendsen, Matthew P. Anderson, John Christodoulou, Arne Gennerich, Yufeng Shen, Wendy K. Chung
Published 2021-04-01

Absence epilepsy in apathetic, a spontaneous mutant mouse lacking the h channel subunit, HCN2

by Wendy K. Chung, Minyoung Shin, Thomas C. Jaramillo, Rudolph L. Leibel, Charles A. LeDuc, Stuart G. Fischer, Efthia Tzilianos, Ayman A. Gheith, Alan S. Lewis, Dane M. Chetkovich
Published 2009-03-01

EPHX1 mutations cause a lipoatrophic diabetes syndrome due to impaired epoxide hydrolysis and increased cellular senescence

by Jeremie Gautheron, Christophe Morisseau, Wendy K Chung, Jamila Zammouri, Martine Auclair, Genevieve Baujat, Emilie Capel, Celia Moulin, Yuxin Wang, Jun Yang, Bruce D Hammock, Barbara Cerame, Franck Phan, Bruno Fève, Corinne Vigouroux, Fabrizio Andreelli, Isabelle Jeru
Published 2021-08-01

Human iPSC-Derived Neuronal Cells From CTBP1-Mutated Patients Reveal Altered Expression of Neurodevelopmental Gene Networks

by S. Vijayalingam, Uthayashanker R. Ezekiel, Fenglian Xu, T. Subramanian, Elizabeth Geerling, Brittany Hoelscher, KayKay San, Aravinda Ganapathy, Kyle Pemberton, Eric Tycksen, Amelia K. Pinto, James D. Brien, David B. Beck, Wendy K. Chung, Christina A. Gurnett, G. Chinnadurai
Published 2020-10-01