Publications by authors named "Christine Eng"

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The utility of ultra-deep RNA sequencing in Mendelian disorder diagnostics.
Sen Zhao, Jefferson C Sinson, Shenglan Li, Jill A Rosenfeld, Gladys Zapata, Christine Eng, Pengfei Liu

Am J Hum Genet· November 2025

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Diagnostic Yield of Exome Sequencing for Pregnancies With and Without Fetal Anomalies and for Stillbirth.
Roni Zemet, Christian M Parobek, April D Adams, Mohamad Ali Maktabi, Lena Shay, Linyan Meng, Pengfei Liu, Hongzheng Dai, Christine Eng

Prenat Diagn· September 2025

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Anaplastic meningioma in a 6-year-old with somatic YAP1::MAML2 fusion and multiple endocrine neoplasia type 4 (MEN4) syndrome.
Lauren R Desrosiers-Battu, John H Lee, Izabela Tarasiewicz, Andrea R Gilbert, Eva M Galvan, Christine Eng

Cancer Genet· April 2025

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Clinical validation of RNA sequencing for Mendelian disorder diagnostics.
Sen Zhao, Kristina Macakova, Jefferson C Sinson, Hongzheng Dai, Jill Rosenfeld, Shenglan Li, Christine Eng, Pengfei Liu

Am J Hum Genet· April 2025

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PIPLOM: prediction of exogenous peptide loading on major histocompatibility complex class I molecules.
Florian Schmidt, Kanxing Wu, Lorenz Gerber, Florence Chioh Wen Jing, Daniel Carbajo, Christine Eng

Bioinform Adv· March 2025

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Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.
Elizabeth Gorman, Hongzheng Dai, Yanming Feng, William James Craigen, David C Y Chen, Linyan Meng, Pengfei Liu, Christine M Eng

Front Genet· March 2025

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The Utility of Ultra-Deep RNA sequencing in Mendelian Disorder Diagnostics.
Sen Zhao, Jefferson C Sinson, Shenglan Li, Jill A Rosenfeld, Gladys Zapata, Christine Eng, Pengfei Liu

medRxiv· January 2025

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Comparing the Diagnostic Yield of Germline Exome Versus Panel Sequencing in the Diverse Population of the Texas KidsCanSeq Pediatric Cancer Study.
Lauren R Desrosiers-Battu, Tao Wang, Jacquelyn Reuther, George Miles, Hongzheng Dai, Christine Eng

JCO Precis Oncol· September 2024

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CffDNA screening for Niemann-pick disease, type C1: a case series.
Sydney A Lau, Romy I Fawaz, Robert Rigobello, Shahad Bawazeer, Nouf M Alajaji, Yanming Feng, Christine M Eng

Front Med (Lausanne)· August 2024

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The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing.
Shenglan Li, Sen Zhao, Jefferson C Sinson, Aleksandar Bajic, Jill A Rosenfeld, Christine M Eng, Pengfei Liu

Am J Hum Genet· May 2024

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AI-MARRVEL - A Knowledge-Driven AI System for Diagnosing Mendelian Disorders.
Dongxue Mao, Chaozhong Liu, Linhua Wang, Rami Ai-Ouran, Cole Deisseroth, Linyan Meng, Christine M Eng, Pengfei Liu

NEJM AI· May 2024

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Evaluation of an automated genome interpretation model for rare disease routinely used in a clinical genetic laboratory.
Linyan Meng, Ruben Attali, Tomer Talmy, Yakir Regev, Niv Mizrahi, Hongzheng Dai, Christine Eng

Genet Med· June 2023

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Clinical and molecular features of pediatric cancer patients with Lynch syndrome.
Sarah Scollon, Mohammad K Eldomery, Jacquelyn Reuther, Frank Y Lin, Samara L Potter, Jack Meng-Fen Su, Christine Eng

Pediatr Blood Cancer· November 2022

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Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.
Bo Yuan, Katharina V Schulze, Nurit Assia Batzir, Jefferson Sinson, Hongzheng Dai, Christine Eng, Pengfei Liu

Genome Med· September 2022

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Single-cell and bulk transcriptome sequencing identifies two epithelial tumor cell states and refines the consensus molecular classification of colorectal cancer.
Ignasius Joanito, Pratyaksha Wirapati, Nancy Zhao, Zahid Nawaz, Grace Yeo, Christine L P Eng, Lih Feng Cheow

Nat Genet· July 2022

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Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies.
Chun-An Chen, John Lattier, Wenmiao Zhu, Jill Rosenfeld, Lei Wang, Hongzheng Dai, Linyan Meng, Pengfei Liu, Christine M Eng

Genet Med· February 2022

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Musculoskeletal Ultrasound as a Motivator for Selecting a Physical Medicine and Rehabilitation Residency Program in the United States: A Multicenter Survey Study.
Altamash E Raja, Alexander Shustorovich, David M Robinson, Kathryn Alfonso, Ryan Meyer, Christine Eng

Am J Phys Med Rehabil· January 2022

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Compound heterozygous variants in progressive myoclonus epilepsy.
Elizabeth A Burke, Morgan Sturgeon, Diane B Zastrow, Liliana Fernandez, Cameron Prybol, Christine M Eng

J Neurogenet· January 2022

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De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities.
Volkan Okur, Zefu Chen, Liesbeth Vossaert, Sandra Peacock, Jill Rosenfeld, Linyan Meng, Pengfei Liu, Christine M Eng

NPJ Genom Med· December 2021

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Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients.
Lei Wang, Pengfei Liu, Weimin Bi, Teresa Sim, Xia Wang, Linyan Meng, Christine M Eng, Hongzheng Dai

Mol Genet Genomic Med· November 2021

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Functional and structural analysis of cytokine-selective IL6ST defects that cause recessive hyper-IgE syndrome.
Yin-Huai Chen, Diane B Zastrow, Riley D Metcalfe, Lisa Gartner, Freia Krause, Christine M Eng

J Allergy Clin Immunol· August 2021

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PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy.
Sugi Panneerselvam, Julia Wang, Wenmiao Zhu, Hongzheng Dai, John G Pappas, Christine M Eng

Clin Genet· August 2021

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Heterozygous variants in SPTBN1 cause intellectual disability and autism.
Jill A Rosenfeld, Rui Xiao, Mir Reza Bekheirnia, Farah Kanani, Michael J Parker, Pengfei Liu, Christine M Eng

Am J Med Genet A· July 2021

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Non-operative orthobiologic use for rotator cuff disorders and glenohumeral osteoarthritis: A systematic review.
David M Robinson, Christine Eng, Steven Makovitch, Joshua B Rothenberg, Stephanie DeLuca

J Back Musculoskelet Rehabil· May 2021

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Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions.
Tomasz Gambin, Qian Liu, Justyna A Karolak, Christopher M Grochowski, Nina G Xie, Christine M Eng, Pengfei Liu

Genet Med· November 2020

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