Co-Authors
This is a "connection" page, showing publications co-authored by DONNA MUZNY and FRITZ SEDLAZECK.
Connection Strength
2.705
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Constellation illuminates rare disease genetics. medRxiv. 2025 Nov 10.
Score: 0.237
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Enriching for Answers in Rare Diseases. medRxiv. 2025 Oct 24.
Score: 0.236
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Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk. BMC Med Genomics. 2024 10 24; 17(1):255.
Score: 0.220
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Closing the gap: Solving complex medically relevant genes at scale. medRxiv. 2024 Mar 18.
Score: 0.211
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Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk. bioRxiv. 2023 Apr 27.
Score: 0.198
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xAtlas: scalable small variant calling across heterogeneous next-generation sequencing experiments. Gigascience. 2022 12 28; 12.
Score: 0.194
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Fully resolved assembly of Cryptosporidium parvum. Gigascience. 2022 02 15; 11.
Score: 0.183
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Evolutionary dynamics of Respiratory Syncytial Virus in pre-pandemic, pandemic, and post-pandemic periods in Houston, Texas, USA. bioRxiv. 2026 Jun 17.
Score: 0.062
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PTPN1-related autoinflammation is a common cause of Aicardi-Gouti?res Syndrome with reduced penetrance. medRxiv. 2026 Apr 01.
Score: 0.061
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Single cell long read whole genome sequencing reveals somatic transposon activity in human brain. Commun Biol. 2025 Nov 20; 8(1):1627.
Score: 0.059
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Population-scale Long-read Sequencing in the All of Us Research Program. medRxiv. 2025 Oct 05.
Score: 0.059
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Correction: Development and extensive sequencing of a broadly-consented Genome in a Bottle matched tumor-normal pair. Sci Data. 2025 Aug 08; 12(1):1385.
Score: 0.058
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Development and extensive sequencing of a broadly-consented Genome in a Bottle matched tumor-normal pair. Sci Data. 2025 Jul 16; 12(1):1195.
Score: 0.058
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Complete genomic characterization of global pathogens respiratory syntical virus and human norovirus using probe based capture enrichment. Sci Rep. 2025 Jul 01; 15(1):20526.
Score: 0.058
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Development and extensive sequencing of a broadly-consented Genome in a Bottle matched tumor-normal pair. bioRxiv. 2025 Jun 14.
Score: 0.058
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Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression. Genome Med. 2024 12 18; 16(1):146.
Score: 0.056
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Single cell long read whole genome sequencing reveals somatic transposon activity in human brain. medRxiv. 2024 Nov 11.
Score: 0.055
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Complete Genomic Characterization of Global Pathogens, Respiratory Syncytial Virus (RSV), and Human Norovirus (HuNoV) Using Probe-based Capture Enrichment. bioRxiv. 2024 Sep 16.
Score: 0.055
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Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci. Cell Genom. 2024 Jul 10; 4(7):100590.
Score: 0.054
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Inter and intra-host diversity of RSV in hematopoietic stem cell transplant adults with normal and delayed viral clearance. Virus Evol. 2024; 10(1):vead086.
Score: 0.052
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Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structures. bioRxiv. 2023 Oct 03.
Score: 0.051
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A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. Am J Med Genet A. 2023 03; 191(3):794-804.
Score: 0.049
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The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation. Genome Med. 2022 10 27; 14(1):122.
Score: 0.048
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Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanism. Hum Mutat. 2022 12; 43(12):2033-2053.
Score: 0.048
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Construction of a new chromosome-scale, long-read reference genome assembly for the Syrian hamster, Mesocricetus auratus. Gigascience. 2022 05 28; 11.
Score: 0.047
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Oligonucleotide capture sequencing of the SARS-CoV-2 genome and subgenomic fragments from COVID-19 individuals. PLoS One. 2021; 16(8):e0244468.
Score: 0.044
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Oligonucleotide Capture Sequencing of the SARS-CoV-2 Genome and Subgenomic Fragments from COVID-19 Individuals. bioRxiv. 2020 Dec 11.
Score: 0.042
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Oligonucleotide capture sequencing of the SARS-CoV-2 genome and subgenomic fragments from COVID-19 individuals. bioRxiv. 2020 Jul 27.
Score: 0.041
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A Genocentric Approach to Discovery of Mendelian Disorders. Am J Hum Genet. 2019 11 07; 105(5):974-986.
Score: 0.039
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Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel. Genet Med. 2019 09; 21(9):2135-2144.
Score: 0.037
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Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2. Cell. 2019 03 07; 176(6):1310-1324.e10.
Score: 0.037