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Research

ZAK as a cause of limb defects in humans and mice" > 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
  • ... [+14 authors] ...,
  • Jamil Ahmad
  • Christian Kubisch
  • Stefan Mundlos
  • Guntram Borck
  • First Published January 11, 2016
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
  • ... [+8 authors] ...,
  • Ohad S. Birk
  • Gill Bejerano
  • Stavros Lomvardas
  • Nadav Ahituv
  • First Published March 22, 2012
Letter

Complex selection on 5′ splice sites in intron-rich organisms

  • Manuel Irimia
  • Scott William Roy
  • Daniel E. Neafsey
  • Josep F. Abril
  • Jordi Garcia-Fernandez
  • Eugene V. Koonin
  • First Published September 10, 2009
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
  • ... [+2 authors] ...,
  • Cindy Skinner
  • Charles E. Schwartz
  • Deborah A. Nickerson
  • Evan E. Eichler
  • First Published June 8, 2009
LETTER

MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair" > 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
  • ... [+10 authors] ...,
  • Jean-Pierre Fryns
  • Peter Marynen
  • Charles E. Schwartz
  • Guy Froyen
  • First Published April 2, 2008
LETTER

Evolution of protein domain promiscuity in eukaryotes

  • Malay Kumar Basu
  • Liran Carmel
  • Igor B. Rogozin
  • Eugene V. Koonin
  • First Published January 29, 2008
LETTER

Three distinct modes of intron dynamics in the evolution of eukaryotes

  • Liran Carmel
  • Yuri I. Wolf
  • Igor B. Rogozin
  • Eugene V. Koonin
  • First Published May 10, 2007
LETTER

Evolutionarily conserved genes preferentially accumulate introns

  • Liran Carmel
  • Igor B. Rogozin
  • Yuri I. Wolf
  • Eugene V. Koonin
  • First Published May 10, 2007
Methods

PLP2 promoter polymorphism enriched in patients with X-linked mental retardation" > 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
  • Tao Wang
  • First Published April 6, 2007
LETTER

Origins and impact of constraints in evolution of gene families

  • Boris E. Shakhnovich
  • Eugene V. Koonin
  • First Published October 19, 2006
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