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Author Details

Donna M Muzny
Baylor College of Medicine
1988
419
120
PMIDPaper TitleJournal TitlePublished Year
36598158A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly.Am J Med Genet A2023
37934770Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling.PLoS Genet2023
37790445Genetic Sex Validation for Sample Tracking in Clinical Testing.Res Sq2023
37873367Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structures.bioRxiv2023
37289514Identification of USP9X as a leukemia susceptibility gene.Blood Adv2023
37398483Functional Genomics of Gastrointestinal <i>Escherichia coli</i> Isolated from Patients with Cancer and Diarrhea.bioRxiv2023
37333115Longitudinal host transcriptional responses to SARS-CoV-2 infection in adults with extremely high viral load.Res Sq2023
36942736Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variants.Am J Med Genet A2023
37124138Rare variant enrichment analysis supports <i>GREB1L</i> as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome.HGG Adv2023
37115922The genomic landscape of familial glioma.Sci Adv2023
37366551Circulating tumor DNA sequencing of pediatric solid and brain tumor patients: An institutional feasibility study.Pediatr Hematol Oncol2023
37292999Longitudinal host transcriptional responses to SARS-CoV-2 infection in adults with extremely high viral load.bioRxiv2023
36598158A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly.Am J Med Genet A2023
37163057Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk.bioRxiv2023
37790445Genetic Sex Validation for Sample Tracking in Clinical Testing.Res Sq2023
37934770Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling.PLoS Genet2023
37873367Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structures.bioRxiv2023
37124138Rare variant enrichment analysis supports <i>GREB1L</i> as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome.HGG Adv2023
37289514Identification of USP9X as a leukemia susceptibility gene.Blood Adv2023
37115922The genomic landscape of familial glioma.Sci Adv2023
37366551Circulating tumor DNA sequencing of pediatric solid and brain tumor patients: An institutional feasibility study.Pediatr Hematol Oncol2023
37398483Functional Genomics of Gastrointestinal <i>Escherichia coli</i> Isolated from Patients with Cancer and Diarrhea.bioRxiv2023
37333115Longitudinal host transcriptional responses to SARS-CoV-2 infection in adults with extremely high viral load.Res Sq2023
37163057Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk.bioRxiv2023
37292999Longitudinal host transcriptional responses to SARS-CoV-2 infection in adults with extremely high viral load.bioRxiv2023
36942736Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variants.Am J Med Genet A2023
34329649Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders.J Allergy Clin Immunol2022
35713195Clinical and molecular features of pediatric cancer patients with Lynch syndrome.Pediatr Blood Cancer2022
36303224The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation.Genome Med2022
35962045Author Correction: Comparative and demographic analysis of orang-utan genomes.Nature2022
35385699Polygenic transcriptome risk scores for COPD and lung function improve cross-ethnic portability of prediction in the NHLBI TOPMed program.Am J Hum Genet2022
35640223Construction of a new chromosome-scale, long-read reference genome assembly for the Syrian hamster, Mesocricetus auratus.Gigascience2022
35747619Genome Sequencing in the Parkinson Disease Clinic.Neurol Genet2022
36001024Proteogenomic Markers of Chemotherapy Resistance and Response in Triple-Negative Breast Cancer.Cancer Discov2022
35552711Whole-exome sequencing of 14â¿¿389 individuals from the ESP and CHARGE consortia identifies novel rare variation associated with hemostatic factors.Hum Mol Genet2022
36054313Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanism.Hum Mutat2022
36644891xAtlas: scalable small variant calling across heterogeneous next-generation sequencing experiments.Gigascience2022
34329649Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders.J Allergy Clin Immunol2022
35026696Distinct somatic DICER1 hotspot mutations in three metachronous ovarian Sertoli-Leydig cell tumors in a patient with DICER1 syndrome.Cancer Genet2022
35166336Fully resolved assembly of Cryptosporidium parvum.Gigascience2022
35331649Implementation of preemptive DNA sequence-based pharmacogenomics testing across a large academic medical center: The Mayo-Baylor RIGHT 10K Study.Genet Med2022
35285685Multiple Respiratory Syncytial Virus (RSV) Strains Infecting HEp-2 and A549 Cells Reveal Cell Line-Dependent Differences in Resistance to RSV Infection.J Virol2022
35346344Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program.Genome Med2022
35344616Phenotypic and mutational spectrum of ROR2-related Robinow syndrome.Hum Mutat2022
35346344Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program.Genome Med2022
35344616Phenotypic and mutational spectrum of ROR2-related Robinow syndrome.Hum Mutat2022
35640223Construction of a new chromosome-scale, long-read reference genome assembly for the Syrian hamster, Mesocricetus auratus.Gigascience2022
35747619Genome Sequencing in the Parkinson Disease Clinic.Neurol Genet2022
35713195Clinical and molecular features of pediatric cancer patients with Lynch syndrome.Pediatr Blood Cancer2022
35552711Whole-exome sequencing of 14â¿¿389 individuals from the ESP and CHARGE consortia identifies novel rare variation associated with hemostatic factors.Hum Mol Genet2022
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Collaborators

Richard A Gibbs
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James R Lupski
Baylor College of Medicine
Co-authored papers 127
Shalini N Jhangiani
Baylor College of Medicine
Co-authored papers 118
Eric Boerwinkle
Baylor College of Medicine
Co-authored papers 98
Harshavardhan Doddapaneni
Baylor College of Medicine
Co-authored papers 74
Kim C Worley
Baylor College of Medicine
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David A Wheeler
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Zeynep Coban Akdemir
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Co-authored papers 52
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Co-authored papers 49
Tomasz Gambin
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Christie L Kovar
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Sandra L Lee
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Yaping Yang
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Stephen Richards
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Lora R Lewis
Baylor College of Medicine
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Jianhong Hu
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Jennifer E Posey
Baylor College of Medicine
Co-authored papers 31
Lynne V Nazareth
Baylor College of Medicine
Co-authored papers 28
Aniko Sabo
Co-authored papers 26
Jeffrey G Reid
Regeneron Pharmaceuticals, Inc.
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Alanna C Morrison
Co-authored papers 26
Sharon E Plon
Baylor College of Medicine
Co-authored papers 25
Steven E Scherer
Baylor College of Medicine
Co-authored papers 24
Christian J Buhay
Baylor College of Medicine
Co-authored papers 24
Bruce M Psaty
Co-authored papers 23
Erica Sodergren
The Genome Institute at Washington University
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Release 1.2