Publications by authors named "Haowei Du"

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An integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian families.
Haowei Du, Ming Yin Lun, Lidiia Gagarina, Jesse D Bengtsson, Christopher M Grochowski

Genome Med· December 2025

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Expanding the Clinical and Molecular Spectrum of Through Distinct Variants Identified Across Multiple Families.
Shaghayegh T Beheshti, Angad Jolly, Ahmed K Saad, Haowei Du, Lauren E Westerfield

medRxiv· December 2025

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Improving automated deep phenotyping through large language models using retrieval-augmented generation.
Brandon T Garcia, Lauren Westerfield, Priya Yelemali, Nikhita Gogate, E Andres Rivera-Munoz, Haowei Du

Genome Med· August 2025

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Community-Driven Copy Number Variant Discovery at Scale: Results from a Rare Disease Genomics Hackathon.
Ming Yin Lun, Jennifer E Posey, Jesse D Bengtsson, Haowei Du, Rituparna Sinha Roy

medRxiv· August 2025

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Unraveling the Molecular and Clinical Consequences of an Intragenic TRIP12 Duplication Using Genomic and RNA Analyses.
Haowei Du, Przemyslaw Szafranski, Amanda Gerard, Mahshid S Azamian, Weimin Bi

Am J Med Genet A· July 2025

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Social support and technophobia in older patients with coronary heart disease: The mediating roles of eHealth literacy and healthcare technology self-efficacy.
Jianchun Zhao, Danqing Hu, Haowei Du, Haichao Wang, Xiaomin Tu

PLoS One· June 2025

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Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation.
Zain Dardas, Laura Harrold, Daniel G Calame, Claire G Salter, Takashi Kikuma, Haowei Du, Miranda Durkie, Abdullah Tamim

Am J Hum Genet· May 2025

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'Shared efforts, brighter smiles': a protocol for a randomised controlled study on the effectiveness of a parent-child orofacial myofunctional therapy programme post-adenoidectomy.
Haowei Du, Meng Zhao, Zhaoxia Wei, Jianhua Liu, Jianchun Zhao

BMJ Open· May 2025

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Saturation genome editing of reveals distinct dominant and recessive neurodevelopmental disorders.
Joachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji, Elsa Leitão, Ruebena Dawes, Haowei Du, Radu Harbuz

medRxiv· April 2025

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Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32.
Zain Dardas, Dana Marafi, Ruizhi Duan, Jawid M Fatih, Omnia F El-Rashidy, Haowei Du

Eur J Hum Genet· March 2025

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Associations between dietary intake of zinc and selenium and breast cancer: findings from a NHANES cross-sectional study.
Yanbo Wang, Zhen Du, Haowei Du, Jianchun Zhao, Yuting Duan

Chin Clin Oncol· February 2025

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Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum.
Daniel G Calame, Jovi Huixin Wong, Puravi Panda, Dat Tuan Nguyen, Nancy C P Leong, Haowei Du

Genet Med· January 2025

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Improving Automated Deep Phenotyping Through Large Language Models Using Retrieval Augmented Generation.
Brandon T Garcia, Lauren Westerfield, Priya Yelemali, Nikhita Gogate, E Andres Rivera-Munoz, Haowei Du

medRxiv· December 2024

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Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression.
Davut Pehlivan, Jesse D Bengtsson, Sameer S Bajikar, Christopher M Grochowski, Ming Yin Lun, Haowei Du

Genome Med· December 2024

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VizCNV: An integrated platform for concurrent phased BAF and CNV analysis with trio genome sequencing data.
Haowei Du, Ming Yin Lun, Lidiia Gagarina, Michele G Mehaffey, James Paul Hwang

bioRxiv· October 2024

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Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci.
Christopher M Grochowski, Jesse D Bengtsson, Haowei Du, Mira Gandhi, Ming Yin Lun

Cell Genom· July 2024

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Health literacy in patients with gout: A latent profile analysis.
Shuo Cai, Danqing Hu, Derong Wang, Jianchun Zhao, Haowei Du

PLoS One· May 2024

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N
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy.
Zain Dardas, Jawid M Fatih, Angad Jolly, Moez Dawood, Haowei Du

Genome Med· April 2024

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HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data.
Haowei Du, Zain Dardas, Angad Jolly, Christopher M Grochowski, Shalini N Jhangiani

Nucleic Acids Res· February 2024

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Biallelic variation in the choline and ethanolamine transporter underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders.
Daniel G Calame, Jovi Huixin Wong, Puravi Panda, Dat Tuan Nguyen, Nancy C P Leong, Haowei Du

medRxiv· February 2024

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Genomic Balancing Act: Deciphering DNA rearrangements in the Complex Chromosomal Aberration involving 5p15.2, 2q31.1 and 18q21.32.
James Lupski, Zain Dardas, Dana Marafi, Ruizhi Duan, Jawid Fatih, Haowei Du

Res Sq· February 2024

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Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking.
Ruizhi Duan, Dana Marafi, Zhi-Jie Xia, Bobby G Ng, Reza Maroofian, Haowei Du, Uzma Abdullah

J Inherit Metab Dis· November 2023

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Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structures.
Christopher M Grochowski, Jesse D Bengtsson, Haowei Du, Mira Gandhi, Ming Yin Lun

bioRxiv· October 2023

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Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.
Daniel G Calame, Tianyu Guo, Chen Wang, Lillian Garrett, Angad Jolly, Haowei Du, Valerie Gailus-Durner

Am J Hum Genet· August 2023

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Rare variant enrichment analysis supports as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome.
Angad Jolly, Haowei Du, Christelle Borel, Na Chen, Sen Zhao, Ruizhi Duan

HGG Adv· July 2023

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