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HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease. Science. 2020 ;369(6500):202-207.
. Hemichordate genomes and deuterostome origins. Nature. 2015 ;527(7579):459-65.
. Hemimetabolous genomes reveal molecular basis of termite eusociality. Nat Ecol Evol. 2018 ;2(3):557-566.
. Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. PLoS Genet. 2014 ;10(3):e1004258.
. Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome. Am J Hum Genet. 2018 ;102(6):1126-1142.
. High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population. Am J Hum Genet. 2021 ;108(10):1981-2005.
. High-depth African genomes inform human migration and health. Nature. 2020 ;586(7831):741-748.
. High-Quality Draft Genome Sequence of Francisella tularensis subsp. holarctica Strain OR96-0246. Genome Announc. 2015 ;3(4).
. A high-resolution map of human evolutionary constraint using 29 mammals. Nature. 2011 ;478(7370):476-82.
. HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data. Nucleic Acids Res. 2024 ;52(4):e18.
. Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort. Nucleic Acids Res. 2017 ;45(4):1633-1648.
. Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism. J Clin Endocrinol Metab. 2015 ;100(5):E808-14.
. The house spider genome reveals an ancient whole-genome duplication during arachnid evolution. BMC Biol. 2017 ;15(1):62.
. Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function. Cell. 2014 ;157(3):636-50.
. Human NK cell deficiency as a result of biallelic mutations in MCM10. J Clin Invest. 2020 ;130(10):5272-5286.
. Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death. Mol Genet Genomic Med. 2016 ;4(1):77-94.
. Hybrid de novo genome assembly and centromere characterization of the gray mouse lemur (Microcebus murinus). BMC Biol. 2017 ;15(1):110.
. Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature. 2007 ;447(7146):799-816.
. Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics. Genome Med. 2016 ;8(1):105.
. Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk. bioRxiv. 2023 ;.
. Identification of genetic susceptibility to childhood cancer through analysis of genes in parallel. Cancer Genet. 2011 ;204(1):19-25.
. Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern. Hum Mutat. 2016 ;37(8):804-11.
. Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis. Hum Genet. 2018 ;137(9):689-703.
. Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation Syndrome. Hepatology. 2019 ;70(3):899-910.
. Identification of TP53 as an acute lymphocytic leukemia susceptibility gene through exome sequencing. Pediatr Blood Cancer. 2013 ;60(6):E1-3.
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