Publications by authors named "Danny Miller"

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Genetic and epigenetic contributors and mimickers of phenotypic hypoxic-ischemic encephalopathy (HIE).
Ulrike Mietzsch, Janessa B Law, Basel Thayyil, Danny E Miller, Thomas R Wood

Semin Perinatol· December 2025

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needLR: Long-read structural variant annotation with population-scale frequency estimation.
Jonas A Gustafson, Jiadong Lin, Evan E Eichler, Danny E Miller

ArXiv· December 2025

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Long-read DNA sequencing resolves a rare case of alloimmune hemolysis mimicking autoimmune hemolysis.
Hui Xiao Chao, Thomas Ma, Livia Hegerova, Theresa Nester, Nina Sen, Danny E Miller

Transfusion· November 2025

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Challenges and opportunities with providing genetic testing and counseling for mucopolysaccharidosis type II in Kenya.
Lucy N Wainaina Mungai, Charles Njeru, Allan Njoroge, Michuki Maina, Syokau Ilovi, Danny E Miller

Orphanet J Rare Dis· November 2025

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GREGoR: accelerating genomics for rare diseases.
Moez Dawood, Ben Heavner, Marsha M Wheeler, Rachel A Ungar, Jonathan LoTempio, Danny E Miller

Nature· November 2025

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Deep Intronic SVA_E Insertion Identified as the Most Common Pathogenic Variant Associated With Canavan Disease: A Diagnostic Blind Spot.
Carlos A Dominguez Gonzalez, Katrina M Bell, Ramakrishnan Rajagopalan, Michelle G de Silva, Aída Lemes, Danny E Miller

Neurol Genet· October 2025

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Complex HPV-human DNA structures revealed by large-scale DNA analyses in an HPV-cancer derived cell line.
Eleanor J Agosta, Yoke-Chen Chang, Vandya Rao, Jessie Hollingsworth, Michelle Brown, Danny E Miller

bioRxiv· October 2025

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Identification of GGC Repeat Expansions in ZFHX3 among Chilean Movement Disorder Patients.
Paula Saffie-Awad, Abraham Moller, Kensuke Daida, Pilar Alvarez Jerez, Zhongbo Chen, Danny E Miller

Mov Disord· July 2025

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Long-read sequencing is required for precision diagnosis of incontinentia pigmenti.
Monica H Wojcik, Robin D Clark, Abdallah F Elias, Casie A Genetti, Jill A Madden, Angela L Miller, David T Miller, Danny E Miller

HGG Adv· July 2025

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Splice-modulating antisense oligonucleotides targeting a pathogenic intronic variant in adult polyglucosan body disease correct mis-splicing and restore enzyme activity in patient cells.
Ria Thomas, Emily Miyoshi, Hasan O Akman, Sophie H R Storz, Joy Goffena, Danny E Miller

Nucleic Acids Res· July 2025

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Pangenome discovery of missing autism variants.
Yang Sui, Jiadong Lin, Michelle D Noyes, Youngjun Kwon, Isaac Wong, Danny E Miller

medRxiv· July 2025

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Patterns of crossover distribution in Drosophila mauritiana necessitate a re-thinking of the centromere effect on crossing over.
R Scott Hawley, Andrew Price, Hua Li, Madhav Jagannathan, Cynthia Staber, Danny E Miller

Genetics· May 2025

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The clade in the Holarctic region: existing names evaluated and seven new species described.
Alfredo Justo, Ekaterina Malysheva, Tatiana Bulyonkova, Guillermo Muñoz, Giuliano Ferisin, Danny Miller

Mycologia· April 2025

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Bidirectional disruption of transcripts causes broad methylation defects in pseudohypoparathyroidism type 1B.
Yorihiro Iwasaki, Monica Reyes, Anna Ryabets-Lienhard, Barbara Gales, Agnès Linglart, Danny E Miller

Proc Natl Acad Sci U S A· April 2025

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Concordance of Whole-Genome Long-Read Sequencing with Standard Clinical Testing for Prader-Willi and Angelman Syndromes.
Cate R Paschal, Miranda P G Zalusky, Anita E Beck, Madelyn A Gillentine, Jaya Narayanan, Danny E Miller

J Mol Diagn· March 2025

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SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns.
Tara L Wenger, Abbey Scott, Lukas Kruidenier, Megan Sikes, Alexandra Keefe, Danny E Miller

Am J Hum Genet· March 2025

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Identification of GGC Repeat Expansions in Among Chilean Movement Disorder Patients.
Paula Saffie-Awad, Abraham Moller, Kensuke Daida, Pilar Alvarez Jerez, Zhongbo Chen, Danny E Miller

medRxiv· March 2025

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Effects of manual osteopathic interventions on psychometric and psychophysiological indicators of anxiety, depression and stress in adults: a systematic review and meta-analysis of randomised controlled trials.
Tom C Gordon, Josh Hope-Bell, Jerry Draper-Rodi, Andrew MacMillan, Danny Miller

BMJ Open· February 2025

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Long-Read Sequencing is Required for Precision Diagnosis of Incontinentia Pigmenti.
Monica H Wojcik, Robin D Clark, Abdallah F Elias, Casie A Genetti, Jill A Madden, Angela L Miller, David T Miller, Danny E Miller

Res Sq· January 2025

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CFAP47 is Implicated in X-Linked Polycystic Kidney Disease.
Takayasu Mori, Takuya Fujimaru, Chunyu Liu, Karynne Patterson, Kouhei Yamamoto, Danny E Miller

Kidney Int Rep· December 2024

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Long-read sequencing of hundreds of diverse brains provides insight into the impact of structural variation on gene expression and DNA methylation.
Kimberley J Billingsley, Melissa Meredith, Kensuke Daida, Pilar Alvarez Jerez, Shloka Negi, Danny E Miller

bioRxiv· December 2024

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GREGoR: Accelerating Genomics for Rare Diseases.
Moez Dawood, Ben Heavner, Marsha M Wheeler, Rachel A Ungar, Jonathan LoTempio, Danny E Miller

ArXiv· December 2024

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Dual diagnosis of -related mitochondrial complex III deficiency and recessive -related cataracts.
Elizabeth E Blue, Samuel J Huang, Alyna Khan, Katie Golden-Grant, Brenna Boyd, Danny E Miller

Rare· August 2024

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Clinical RNA sequencing clarifies variants of uncertain significance identified by prior testing.
Jonathan Marquez, Jennifer N Cech, Cate R Paschal, Bri Dingmann, Anna I Scott, Danny E Miller

Genet Med Open· August 2024

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3-hour genome sequencing and targeted analysis to rapidly assess genetic risk.
Miranda Pg Zalusky, Jonas A Gustafson, Stephanie C Bohaczuk, Ben Mallory, Paxton Reed, Danny E Miller

Genet Med Open· February 2024

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