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Wendy K. Chung

Boston Children's Hospital

127H-index
1.3KPaper Count
7.2WCitation Count
Published Papers 519
Publication Date
KIF1A-Associated Neurological Disorder (KAND): Spectrum of Movement and Motor Disorders in a Cohort of 51 Patients
err2026-07-29
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PREAI
errKaterina Bernardi MD; Giovana Ribeiro MD; Nicole Battaglia BS; Jessica Waxler MS, CGC; Amy Tam BS; Joshua Rong BS; Enrique Gonzalez Saez-Diez Cand. Med; Candace Cameron; Monica Ferrer-Socorro MD; Zainab Zaman MD; Habibah A.P. Agianda MD; Vicente Quiroz MD; Kathryn Yang MBChB, FRCPC; Wendy K. Chung MD, PhD; Darius Ebrahimi-Fakhari MD, PhD
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Rationale and Methods for the Prospective Genetic Risk Evaluation and Assessment (PROGRESS) in Autism Center at Columbia University
err2026-07-22
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errOAAI
errNicolò Pini; Lauren C. Shuffrey; Kally C. O’Reilly Sparks; Andrew T. Marin; Celia L. D’Amato; Renald Dambreville; Yunzhe Hu; Rebecca N. Siegel; Hallie R. Brown; Gazi F. Azad; Rebecca A. Muhle; Carrie L. Koval-Burt; Yufeng Shen; Melanie M. Wall; Stephen M. Kanne; Matthew S. Lebowitz; William P. Fifer; Paul S. Appelbaum; Dima Amso; Wendy K. Chung; Jeremy Veenstra-VanderWeele
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Using a translational data platform to create clinical-grade genome-informed risk assessments
err2026-07-13
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errJennifer L Morse, MS; Megan He, PhD; Hana Bangash, MBBS; Wendy K Chung, MD, PhD; Joshua Cortopassi, PharmD; Sophie Forman; Adam S Gordon, PhD; Marwan Hamed, MD; Paul A Harris, PhD; Elizabeth W Karlson, MD; Eimear E Kenny, PhD; Krzysztof Kiryluk, MD; Iftikhar J Kullo, MD; Adam Lewis, MS; Nita Limdi, PhD, PharmD; Cong Liu, PhD; Priya Marathe, MGC; Kyle McGuffin, BS; Jacqueline Odgis, MGC; Emma Perez, MGC; Jacob Petrzelka; Cynthia A Prows, MSN; Luke V Rasmussen, MS; Ellis Thomas; Georgia L Wiesner, MD; Travis Wilson; Jodell E Linder, PhD; Josh F Peterson, MD; null
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Genomics to Enhance Newborn Screening ?
err2026-06-09
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PREAI
errAlban Ziegler; Wendy K. Chung
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Exploring immediate responses to <i>APOE</i> <b>ε</b> 4/ε4 genotype and Alzheimer's disease risk disclosure in Latinos
err2026-03-30
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PREAI
errDaniela Diaz Caro; Sophia Rodriguez; Wendy R. Uhlmann; Jill S. Goldman; Sarah McCain; John B. Wetmore; María Cabán; Wendy K. Chung; J. Scott Roberts; Karolynn Siegel; Ruth Ottman
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Machine learning to infer neurocognitive testing scores among adolescents and young adults with congenital heart disease
err2026-02-06
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errOAAI
errMohammad Arafat Hussain; Sheng He; Heather R. Adams; Evdokia Anagnoustou; David C. Bellinger; Martina Brueckner; Wendy K. Chung; John Cleveland; Bruce D. Gelb; Elizabeth Goldmuntz; Donald J. Hagler; Hao Huang; Patrick McQuillen; Thomas A. Miller; Ami Norris-Brilliant; George A. Porter; Nina Thomas; Madalina E. Tivarus; Duan Xu; Yufeng Shen; Jane W. Newburger; P. Ellen Grant; Sarah U. Morton; Yangming Ou
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Antisense oligonucleotides to KIF1A polymorphisms expand targets and rescue patient-derived neurons in vitro
err2026-01-09
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errOAAI
errMichael V. Zuccaro; Randee E. Young; Jiangyuan Hu; Patricia Lanzano; Ekaterina Semenova; Xiaoqi Lin; Alicja Skowronski; Yufeng Shen; Tae Hyun Kim; Danny E. Miller; Noelle Germain; Patrick Sarmiere; Charles A. LeDuc; Wendy K. Chung
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Pathogenetic mechanisms of muscle-specific ribosomes in dilated cardiomyopathy
err2026-01-06
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errOAAI
errMichael R. Murphy; Mythily Ganapathi; Esther R. Rotlevi; Teresa M. Lee; Joshua M. Fisher; Megha V. Patel; Parul Jayakar; Amanda Buchanan; Alyssa L. Rippert; Rebecca C. Ahrens-Nicklas; Divya Nair; Shalini S. Nayak; Aakanksha Anand; Anju Shukla; Rajesh K. Soni; Yue Yin; Feiyue Yang; Enrique J. Garcia; Muredach P. Reilly; Wendy K. Chung; Xuebing Wu
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Identification of Novel Susceptibility Genes for Early-Onset Colorectal Cancer Through Germline Rare Variant Burden Testing
err2025-12-09
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errOAAI
errRuocen Song; Reger R. Mikaeel; Zhongping He; Mehgan Horsnell; Wendy Uylaki; Weimin Meng; Nicola K. Poplawski; Bernd Wollnik; Yun Li; Jinghua Feng; Hamish S. Scott; Yufeng Shen; Chen Wang; Rui Yin; Yousong Ding; Xavier Llor; Wendy K. Chung; Eric Smith; Timothy J. Price; Joanne P. Young; Xiao Fan
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Healthcare professionals’ experiences returning monogenic, polygenic, and integrated risk results in the eMERGE study
err2025-12-06
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errOAAI
errSabrina A. Suckiel; Laura Golfinopoulos; Courtney L. Scherr; Brenna M. Boyd; Wendy K. Chung; Hakon Hakonarson; Ingrid A. Holm; Iftikhar J. Kullo; Nita A. Limdi; Michael F. Murray; Melanie F. Myers; Cynthia A. Prows; Maya Sabatello; Georgia L. Wiesner; Eimear E. Kenny; Noura S. Abul-Husn
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The Perspectives and Experiences of Prospective Parents Declining Diagnostic Prenatal Genome Sequencing in Continuing Pregnancies With Fetal Structural Anomalies
err2025-12-01
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errOAAI
errWeingarten, Lisa S.; Rosenbaum, Allison; de Voest, Jessica; Galloway, Stephanie; Giordano, Jessica L.; Stover, Samantha; Westerfield, Lauren E.; Bonesteele, Grant; Gilmore, Kelly L.; Tolusso, Leandra; Wong, Beatrix; Wittman, A. Theresa; Swarr, Daniel T.; Leslie, Nancy; Johnson, Anthony; Van den Veyver, Ignatia B.; Vora, Neeta L.; Clifton, Rebecca G.; Caughey, Aaron B.; Wapner, Ronald J.; Chung, Wendy K.
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Genetic contributors to osteoporosis in pregnancy and lactation associated osteoporosis (PLO)
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IF3.6
err2025-11-30
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PREAI
errLauren Lynch; Patrick R. Shea; Natalie Vena; Wendy K. Chung; Elizabeth Shane; Mafo Kamanda-Kosseh; Jordan Barry; Dany El-Najjar; Sanchita Agarwal; Ananya Kondapalli; Ivelisse Colon; Mariana Bucovsky; Adi Cohen
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Missense variants in DPYSL5 associated with neurodevelopmental disorders and brain malformations cause impaired neuronal maturation in vitro
err2025-11-24
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errOAAI
errFlorence Desprez; Solène Remize; Liberty François-Moutal; Dévina C. Ung; Audrey Dangoumau; Sylviane Marouillat; Joanna Kennedy; Karen J. Low; Camille Kumps; Sheila Unger; Boris Keren; Jean-Madeleine de Sainte Agathe; Céline Poirsier; Ghayda M. Mirzaa; Kimberly A. Aldinger; Gaetan Lesca; Valentin Ruault; Candice R. Finnila; Whitley V. Kelley; Donald R. Latner; Sushma N. Guptha; Annabelle Tuttle; Ian Glass; Wendy K. Chung; Jennifer Cassady Hayek; Odile Boute; Aubin Moutal; Médéric Jeanne; Frédéric Laumonnier
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STAG2-truncating variants reveal a mosaic STAG2-inactivation pattern and compensatory mechanisms involving cohesin complex remodeling
err2025-11-22
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errMacarena Moronta-Gines; Marja W. Wessels; Valentina Casa; Thomas van Staveren; Amber Hof; Wendy K. Chung; Marjolaine Willems; Anna Sandestig; Irina Huening; Peter Turnpenny; Mathilde Lefebvre; Ilaria Parenti; Frank Kaiser; Jeroen Demmers; Wilfred F.J. van IJcken; Kerstin S. Wendt
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Digital health technology use in clinical trials of rare diseases: a systematic review
err2025-10-31
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errXiangyun Mao; Dian Zeng; Xiaocong Wang; David A. Pearce; Gareth Baynam; Niels H. Chavannes; Wendy K. Chung; Honghan Wu; Yih-Chung Tham; Shuyang Zhang; Guanqiao Li; Tien Yin Wong
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SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder
err2025-10-10
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errOAAI
errMaggie M. K. Wong; Rosalie A. Kampen; Ruth O. Braden; Gökberk Alagöz; Michael S. Hildebrand; Alexander J. M. Dingemans; Jean Corbally; Joery den Hoed; Ezequiel Mendoza; Willemijn J. J. Claassen; Christopher Barnett; Meghan Barnett; Alfredo Brusco; Diana Carli; Bert B. A. de Vries; Frances Elmslie; Giovanni Battista Ferrero; Nadieh A. Jansen; Ingrid M. B. H. van de Laar; Alice Moroni; David Mowat; Lucinda Murray; Francesca Novara; Angela Peron; Ingrid E. Scheffer; Fabio Sirchia; Samantha J. Turner; Aglaia Vignoli; Arianna Vino; Sacha Weber; Wendy K. Chung; Marion Gerard; Vanesa López-González; Elizabeth Palmer; Angela T. Morgan; Bregje W. van Bon; Simon E. Fisher
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Implementing integrated genomic risk assessments for breast cancer: lessons learned from the Electronic Medical Records and Genomics study
err2025-10-01
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PREAI
errLiu, Cong; Crew, Katherine D.; Morse, Jennifer; Linder, Jodell E.; Antoniou, Antonis C.; Carver, Tim; Cortopassi, Josh; Peterson, Josh F.; Ta, Casey N.; Hoell, Christin; Prows, Cynthia; Kenny, Eimear E.; Miller, Emily; Perez, Emma; Jarvik, Gail P.; Bland, Harris T.; Odgis, Jacqueline A.; Mittendorf, Kathleen F.; Bonini, Katherine E.; McGuffin, Kyle; Kottyan, Leah C.; Maradik, Mary; Limdi, Nita; Abul-Husn, Noura S.; Marathe, Priya N.; Suckiel, Sabrina A.; Aguilar, Sienna; Lewis, Toni J.; Wei, Wei-Qi; Luo, Yuan; Freimuth, Robert R.; Hakonarson, Hakon; Weng, Chunhua; Chung, Wendy K.; Wiesner, Georgia L.
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Toward Same-Day Genome Sequencing in the Critical Care Setting
err2025-10-01
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PREAI
errWojcik, Monica H.; Larkin, Katie; Cipicchio, Michelle; Doupnik, Austin; Zhao, Chen; Cech, Cynthia; Lopez, Douglas; Chandrasekar, Jagadeeswaran; Leadbetter, Joanne; Mannion, John; Berg, Kendall; Golkaram, Mahdi; Osentowski, Mckenna; Freer, Megan; Lehmann, Taylor; Lee, Won-Mean; Ormbrek, Emily; Prindle, Marc J.; Nabavi, Melud; Chaturvedi, Amal; Seberino, Chuck; Baker, Daniel N.; Williams, Cara; Toledo, Diana; Malolepsza, Edyta; Fleharty, Mark; Oza, Andrea; Low, Sophie; Beggs, Alan H.; Genetti, Casie A.; Strickland, Gwendolyn; Anderson, Katherine N.; Chung, Wendy K.; Rehm, Heidi L.; Hofherr, Sean; Kokoris, Mark; Lennon, Niall
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Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy
err2025-09-02
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errOAAI
errKelsey Robinson; Sunil K. Singh; Rachel B. Walkup; Dorelle V. Fawwal; Kendra M. Vilfort; Amanda Koloskee; Azeez Fashina; Wasiu Lanre Adeyemo; Terri H. Beaty; Azeez Butali; Carmen J. Buxó; Wendy K. Chung; David J. Cutler; Michael P. Epstein; Brooklynn Gasser; Lord J.J. Gowans; Jacqueline T. Hecht; Anuj Mankad; Lina Moreno Uribe; Daryl A. Scott; Gary M. Shaw; Mary Ann Thomas; Seth M. Weinberg; Eric C. Liao; Harrison Brand; Mary L. Marazita; Robert J. Lipinski; Jeffrey C. Murray; Robert A. Cornell; Elizabeth J. Leslie-Clarkson
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