Searching journal content for Charles E. Schwartz in author.

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  1. Research: Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice
    • Malte Spielmann,
    • Naseebullah Kakar,
    • Naeimeh Tayebi,
    • Catherine Leettola,
    • Gudrun Nürnberg,
    • Nadine Sowada,
    • Darío G. Lupiáñez,
    • Izabela Harabula,
    • Ricarda Flöttmann,
    • Denise Horn,
    • Wing Lee Chan,
    • Lars Wittler,
    • Rüstem Yilmaz,
    • Janine Altmüller,
    • Holger Thiele,
    • Hans van Bokhoven,
    • Charles E. Schwartz,
    • Peter Nürnberg,
    • James U. Bowie,
    • Jamil Ahmad,
    • Christian Kubisch,
    • Stefan Mundlos,
    • and Guntram Borck
    Genome Res. February 2016 26: 183-191; Published in Advance January 11, 2016, doi:10.1101/gr.199430.115
  2. Research: Coding exons function as tissue-specific enhancers of nearby genes
    • Ramon Y. Birnbaum,
    • E. Josephine Clowney,
    • Orly Agamy,
    • Mee J. Kim,
    • Jingjing Zhao,
    • Takayuki Yamanaka,
    • Zachary Pappalardo,
    • Shoa L. Clarke,
    • Aaron M. Wenger,
    • Loan Nguyen,
    • Fiorella Gurrieri,
    • David B. Everman,
    • Charles E. Schwartz,
    • Ohad S. Birk,
    • Gill Bejerano,
    • Stavros Lomvardas,
    • and Nadav Ahituv
    Genome Res. June 2012 22: 1059-1068; Published in Advance March 22, 2012, doi:10.1101/gr.133546.111
  3. Methods: A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease
    • Heather C. Mefford,
    • Gregory M. Cooper,
    • Troy Zerr,
    • Joshua D. Smith,
    • Carl Baker,
    • Neil Shafer,
    • Erik C. Thorland,
    • Cindy Skinner,
    • Charles E. Schwartz,
    • Deborah A. Nickerson,
    • and Evan E. Eichler
    Genome Res. September 2009 19: 1579-1585; Published in Advance June 8, 2009, doi:10.1101/gr.094987.109
  4. LETTER: Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair
    • Marijke Bauters,
    • Hilde Van Esch,
    • Michael J. Friez,
    • Odile Boespflug-Tanguy,
    • Martin Zenker,
    • Angela M. Vianna-Morgante,
    • Carla Rosenberg,
    • Jaakko Ignatius,
    • Martine Raynaud,
    • Karen Hollanders,
    • Karen Govaerts,
    • Kris Vandenreijt,
    • Florence Niel,
    • Pierre Blanc,
    • Roger E. Stevenson,
    • Jean-Pierre Fryns,
    • Peter Marynen,
    • Charles E. Schwartz,
    • and Guy Froyen
    Genome Res. June 2008 18: 847-858; Published in Advance April 2, 2008, doi:10.1101/gr.075903.107
  5. Methods: X chromosome cDNA microarray screening identifies a functional PLP2 promoter polymorphism enriched in patients with X-linked mental retardation
    • Lilei Zhang,
    • Chunfa Jie,
    • Cassandra Obie,
    • Fatima Abidi,
    • Charles E. Schwartz,
    • Roger E. Stevenson,
    • David Valle,
    • and Tao Wang
    Genome Res. May 2007 17: 641-648; Published in Advance April 6, 2007, doi:10.1101/gr.5336307
  6. RESEARCH: Duplications on Human Chromosome 22 Reveal a Novel Ret Finger Protein-Like Gene Family with Sense and Endogenous Antisense Transcripts
    • Eyal Seroussi,
    • Darek Kedra,
    • Hua-Qin Pan,
    • Myriam Peyrard,
    • Charles Schwartz,
    • Peter Scambler,
    • Dian Donnai,
    • Bruce A. Roe,
    • and Jan P. Dumanski
    Genome Res. September 1, 1999 9: 803-814; doi:10.1101/gr.9.9.803
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