Updates

Scientific papers

• Gene Regulatory Sequences and Human Disease
  Nadav Ahituv, Editor
  Springer 2012

• Studies of TBX4 and chromosome 17q23.1q23.2: An uncommon cause of nonsyndromic clubfoot
  Lu W, Bacino CA, Richards BS, Alvarez C, VanderMeer JE, Vella M, Ahituv N, Sikka N, Dietz FR, Blanton SH, Hecht JT
  Am J Med Genet A 2012, in press

• A novel 13 base pair insertion in the Sonic Hedgehog ZRS limb enhancer (LMBR1) causes preaxial polydactyly with triphalangeal thumb
  Laurell T, VanderMeer JE, Wenger AM, Grigelioniene G, Nordenskjöld A, Arner M, Ekblom AG, Bejerano G, Ahituv N, Nordgren A.
  Hum Mutat. 2012 33:1063-1066

• Coding exons function as tissue-specific enhancers of nearby genes
  Birnbaum RY, Clowney EJ, Agamy O, Kim MJ, Zhao J, Yamanaka T, Pappalardo Z, Clarke SL, Wenger AM, Nguyen L, Gurrieri F, Everman DB, Schwartz CE, Birk OS, Bejerano G, Lomvardas S, Ahituv N.
  Genome Res. 2012 22:1059-68

• cis-regulatory mutations are a genetic cause of human limb malformations
  VanderMeer JE, Ahituv N
  Developmental Dynamics 2011, 240: 920-30

Videos

• A novel 13 base pair insertion in the Sonic Hedgehog ZRS limb enhancer (LMBR1) causes preaxial polydactyly with triphalangeal thumb
  Laurell T, Vandermeer JE, Wenger AM, Grigelioniene G, Nordenskjöld A, Arner M, Ekblom AG, Bejerano G, Ahituv N, Nordgren A.
  Hum Mutat. 2012 33:1063-1066, Video abstract

• Future Genomics
  Nadav Ahituv, California Academy of Sciences, October 2009

Documented enhancer mutations

• ZRS (ZPA Regulatory Sequence) Duplications UCSC Track
• ZRS Mutations UCSC Track