DannyErwinMillerMD

PubMed

• Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia.
  Andrew Fleming, Miranda Galey, Lizi Briggs, Matthew Edwards, Claire Hogg, Shibu John, Sam Wilkinson, Ellie Quinn, Ranjit Rai, Tom Burgoyne, Andy Rogers, Mitali P Patel...> ;European Journal of Human Genetics. 2024 Apr 11
• is a novel causative gene implicated in X-linked polycystic kidney disease.
  Takayasu Mori, Takuya Fujimaru, Chunyu Liu, Karynne Patterson, Kohei Yamamoto, Takefumi Suzuki, Motoko Chiga, Akinari Sekine, Yoshifumi Ubara, Danny E Miller, Miranda ...> ;Medrxiv. 2024 Apr 5
• De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
  Sureni V Mullegama, Kaitlyn A Kiernan, Erin Torti, Ethan Pavlovsky, Nicholas Tilton, Austin Sekula, Hua Gao, Joseph T Alaimo, Kendra Engleman, Eric T Rush, Karli Block...> ;American Journal of Human Genetics. 2024 Apr 4
• 1 citations
  Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation.
  Jonas A Gustafson, Sophia B Gibson, Nikhita Damaraju, Miranda Pg Zalusky, Kendra Hoekzema, David Twesigomwe, Lei Yang, Anthony A Snead, Phillip A Richmond, Wouter De C...> ;Medrxiv. 2024 Mar 7
• 9 citations
  Applications of long-read sequencing to Mendelian genetics.
  Francesco Kumara Mastrorosa, Danny E Miller, Evan E Eichler> ;Genome Medicine. 2023 Jun 14
• Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.
  Jonai Pujol-Giménez, Ghayda Mirzaa, Elizabeth E Blue, Giuseppe Albano, Danny E Miller, Aimee Allworth, James T Bennett, Peter H Byers, Sirisak Chanprasert, Jingheng Ch...> ;Annals of Clinical and Translational Neurology. 2023 Jun 1
• 1 citations
  Heterozygous inversion breakpoints suppress meiotic crossovers by altering recombination repair outcomes.
  Haosheng Li, Erica Berent, Savannah Hadjipanteli, Miranda Galey, Nigel Muhammad-Lahbabi, Danny E Miller, K Nicole Crown> ;Plos Genetics. 2023 Apr 1
• 7 citations
  Targeted Long-Read Sequencing Identifies a Retrotransposon Insertion as a Cause of Altered GNAS Exon A/B Methylation in a Family With Autosomal Dominant Pseudohypopara...
  Danny E Miller, Patrick Hanna, Miranda Galey, Monica Reyes, Agnès Linglart, Evan E Eichler, Harald Jüppner> ;Journal of Bone and Mineral Research. 2022 Sep 1
• 13 citations
  Targeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome cases.
  Danny E Miller, Lin Lee, Miranda Galey, Renuka Kandhaya-Pillai, Marc Tischkowitz, Deepak Amalnath, Avadh Vithlani, Koutaro Yokote, Hisaya Kato, Yoshiro Maezawa, Aki Ta...> ;Journal of Medical Genetics. 2022 May 9
• 60 citations
  Curated variation benchmarks for challenging medically relevant autosomal genes.
  Justin Wagner, Nathan D Olson, Lindsay Harris, Jennifer McDaniel, Haoyu Cheng, Arkarachai Fungtammasan, Yih-Chii Hwang, Richa Gupta, Aaron M Wenger, William J Rowell, ...> ;Nature Biotechnology. 2022 May 1
• 38 citations
  Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.
  Al Saif, H., Janel O. Johnson, Ruth Chia, Danny E. Miller, Rachel Li, Ravindran Kumaran, Yevgeniya Abramzon, Nada Alahmady, Alan E. Renton, Simon Topp, J. Raphael Gibb...> ;JAMA Neurology. 2021 Oct 1
• 4 citations
  Alpha satellite insertion close to an ancestral centromeric region.
  Giuliana Giannuzzi, Glennis A. Logsdon, Nicolas Chatron, Danny E. Miller, Julie Reversat, Katherine M. Munson, Kendra Hoekzema, Marie-Noelle Bonnet-Dupeyron, Pierre-An...> ;Molecular Biology and Evolution. 2021 Aug 31
• 67 citations
  Highly contiguous assemblies of 101 drosophilid genomes.
  Bernard Y. Kim, Jeremy Wang, Danny E. Miller, Olga Barmina, Emily K. Delaney, Ammon Thompson, Aaron A. Comeault, David Peede, Emmanuel R. R. D’Agostino, Julianne N. Pe...> ;Elife. 2021 Jul 19
• 84 citations
  Targeted long-read sequencing identifies missing disease-causing variation
  Danny E. Miller, Arvis Sulovari, Tianyun Wang, Hailey Loucks, Kendra Hoekzema, Katherine M. Munson, Alexandra P. Lewis, Edith P Almanza Fuerte, Catherine R Paschal, Th...> ;American Journal of Human Genetics. 2021 Aug 5
• Case 2: Seizures in a Neonate.
  Danny E. Miller, Jason N. Wright, Randall A. Bly, Elliott Mark Weiss, Srinivas M. Susarla, Tara L. Wenger> ;Neoreviews. 2021 May 1
• 4 citations
  Further delineation of van den Ende‐Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome
  Clara C. Hildebrandt, Nisha Patel, John M. Graham, Michael J. Bamshad, Deborah A. Nickerson, Janson White, Colby T. Marvin, Danny E. Miller, Katheryn Grand, Pedro A. S...> ;American Journal of Medical Genetics. Part A. 2021 Mar 30
• 9 citations
  A pathway for error-free non-homologous end joining of resected meiotic double-strand breaks.
  Talia Hatkevich, Danny E. Miller, Carolyn A. Turcotte, Margaret C. Miller, Jeff Sekelsky> ;Nucleic Acids Research. 2021 Jan 25
• 2 citations
  The role of gene dosage in budding yeast centrosome scaling and spontaneous diploidization.
  Jingjing Chen, Zhiyong Xiong, Danny E. Miller, Zulin Yu, Scott McCroskey, William D. Bradford, Ann M. Cavanaugh, Sue L. Jaspersen> ;Plos Genetics. 2020 Dec 17
• 1 citations
  The Interchromosomal Effect: Different Meanings for Different Organisms.
  Danny E Miller> ;Genetics. 2020 Nov 1
• 9 citations
  Identification and Characterization of Breakpoints and Mutations on Drosophila melanogaster Balancer Chromosomes
  Danny E. Miller, Lily Kahsai, Kasun Buddika, Michael J. Dixon, Bernard Y. Kim, Brian R. Calvi, Nicholas S. Sokol, R. Scott Hawley, Kevin R. Cook> ;G3. 2020 Sep 24
• 20 citations
  Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy.
  Tara L. Wenger, Randall A. Bly, Natalie Wu, Catherine M. Albert, Julie Park, Joseph T. Shieh, Jirat Chenbhanich, Carrie L. Heike, Margaret P. Adam, Irene Chang, Angela...> ;American Journal of Medical Genetics. Part A. 2020 Jul 1
• 5 citations
  Pharmacokinetics of oral l-serine supplementation in a single patient.
  Danny E. Miller, Carlos Ferreira, Anna I. Scott, Irene J. Chang> ;Molecular Genetics and Metabolism Reports. 2020 May 22
• 8 citations
  A child with autism, behavioral issues, and dysmorphic features found to have a tandem duplication within CTNND2 by mate-pair sequencing.
  Danny E. Miller, Audrey Squire, James T. Bennett> ;American Journal of Medical Genetics. Part A. 2020 Mar 1
• 1 citations
  Catel-Manzke syndrome without Manzke dysostosis.
  Danny E. Miller, Penny Chow, Emily R. Gallagher, Jonathan A. Perkins, Tara L. Wenger> ;American Journal of Medical Genetics. Part A. 2020 Mar 1
• 3 citations
  Synaptonemal Complex-Deficient Drosophila melanogaster Females Exhibit Rare DSB Repair Events, Recurrent Copy-Number Variation, and an Increased Rate of de Novo Transp...
  Danny E. Miller> ;G3. 2020 Feb 6
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