Stable enhancers are active in development, and fragile enhancers are associated with evolutionary adaptation

by Shan Li, Evgeny Z. Kvon, Axel Visel, Len A. Pennacchio, Ivan Ovcharenko
Published 2019-07-01

Deletion of ultraconserved elements yields viable mice.

by Nadav Ahituv, Yiwen Zhu, Axel Visel, Amy Holt, Veena Afzal, Len A Pennacchio, Edward M Rubin
Published 2007-09-01

Tissue-specific RNA expression marks distant-acting developmental enhancers.

by Han Wu, Alex S Nord, Jennifer A Akiyama, Malak Shoukry, Veena Afzal, Edward M Rubin, Len A Pennacchio, Axel Visel
Published 2014-09-01

Gain-of-function R225W mutation in human AMPKgamma(3) causing increased glycogen and decreased triglyceride in skeletal muscle.

by Sheila R Costford, Nihan Kavaslar, Nadav Ahituv, Shehla N Chaudhry, Wendy S Schackwitz, Robert Dent, Len A Pennacchio, Ruth McPherson, Mary-Ellen Harper
Published 2007-01-01

Generation of long insert pairs using a Cre-LoxP Inverse PCR approach.

by Ze Peng, Zhiying Zhao, Nandita Nath, Jeff L Froula, Alicia Clum, Tao Zhang, Jan-Fang Cheng, Alex C Copeland, Len A Pennacchio, Feng Chen
Published 2012-01-01

A Cryptochrome 2 mutation yields advanced sleep phase in humans

by Arisa Hirano, Guangsen Shi, Christopher R Jones, Anna Lipzen, Len A Pennacchio, Ying Xu, William C Hallows, Thomas McMahon, Maya Yamazaki, Louis J Ptáček, Ying-Hui Fu
Published 2016-08-01

Single site-specific integration targeting coupled with embryonic stem cell differentiation provides a high-throughput alternative to in vivo enhancer analyses

by Adam C. Wilkinson, Debbie K. Goode, Yi-Han Cheng, Diane E. Dickel, Sam Foster, Tim Sendall, Marloes R. Tijssen, Maria-Jose Sanchez, Len A. Pennacchio, Aileen M. Kirkpatrick, Berthold Göttgens
Published 2013-10-01

Evolution of extreme resistance to ionizing radiation via genetic adaptation of DNA repair

by Rose T Byrne, Audrey J Klingele, Eric L Cabot, Wendy S Schackwitz, Jeffrey A Martin, Joel Martin, Zhong Wang, Elizabeth A Wood, Christa Pennacchio, Len A Pennacchio, Nicole T Perna, John R Battista, Michael M Cox
Published 2014-03-01

Limb-Enhancer Genie: An accessible resource of accurate enhancer predictions in the developing limb.

by Remo Monti, Iros Barozzi, Marco Osterwalder, Elizabeth Lee, Momoe Kato, Tyler H Garvin, Ingrid Plajzer-Frick, Catherine S Pickle, Jennifer A Akiyama, Veena Afzal, Niko Beerenwinkel, Diane E Dickel, Axel Visel, Len A Pennacchio
Published 2017-08-01

A genetic signature of spina bifida risk from pathway-informed comprehensive gene-variant analysis.

by Nicholas J Marini, Thomas J Hoffmann, Edward J Lammer, Jill Hardin, Katherine Lazaruk, Jason B Stein, Dennis A Gilbert, Crystal Wright, Anna Lipzen, Len A Pennacchio, Suzan L Carmichael, John S Witte, Gary M Shaw, Jasper Rine
Published 2011-01-01

Genomic Resolution of DLX-Orchestrated Transcriptional Circuits Driving Development of Forebrain GABAergic Neurons

by Susan Lindtner, Rinaldo Catta-Preta, Hua Tian, Linda Su-Feher, James D. Price, Diane E. Dickel, Vanille Greiner, Shanni N. Silberberg, Gabriel L. McKinsey, Michael T. McManus, Len A. Pennacchio, Axel Visel, Alex S. Nord, John L.R. Rubenstein
Published 2019-08-01

Use of "MGE enhancers" for labeling and selection of embryonic stem cell-derived medial ganglionic eminence (MGE) progenitors and neurons.

by Ying-Jiun J Chen, Daniel Vogt, Yanling Wang, Axel Visel, Shanni N Silberberg, Cory R Nicholas, Teruko Danjo, Joshua L Pollack, Len A Pennacchio, Stewart Anderson, Yoshiki Sasai, Scott C Baraban, Arnold R Kriegstein, Arturo Alvarez-Buylla, John L R Rubenstein
Published 2013-01-01

The Epigenomic Landscape of Prokaryotes.

by Matthew J Blow, Tyson A Clark, Chris G Daum, Adam M Deutschbauer, Alexey Fomenkov, Roxanne Fries, Jeff Froula, Dongwan D Kang, Rex R Malmstrom, Richard D Morgan, Janos Posfai, Kanwar Singh, Axel Visel, Kelly Wetmore, Zhiying Zhao, Edward M Rubin, Jonas Korlach, Len A Pennacchio, Richard J Roberts
Published 2016-02-01

Lack of support for the association between GAD2 polymorphisms and severe human obesity.

by Michael M Swarbrick, Björn Waldenmaier, Len A Pennacchio, Denise L Lind, Martha M Cavazos, Frank Geller, Raphael Merriman, Anna Ustaszewska, Mary Malloy, André Scherag, Wen-Chi Hsueh, Winfried Rief, Franck Mauvais-Jarvis, Clive R Pullinger, John P Kane, Robert Dent, Ruth McPherson, Pui-Yan Kwok, Anke Hinney, Johannes Hebebrand, Christian Vaisse
Published 2005-09-01

Genome-wide compendium and functional assessment of in vivo heart enhancers

by Diane E. Dickel, Iros Barozzi, Yiwen Zhu, Yoko Fukuda-Yuzawa, Marco Osterwalder, Brandon J. Mannion, Dalit May, Cailyn H. Spurrell, Ingrid Plajzer-Frick, Catherine S. Pickle, Elizabeth Lee, Tyler H. Garvin, Momoe Kato, Jennifer A. Akiyama, Veena Afzal, Ah Young Lee, David U. Gorkin, Bing Ren, Edward M. Rubin, Axel Visel, Len A. Pennacchio
Published 2016-10-01

Deletion of a non-canonical regulatory sequence causes loss of Scn1a expression and epileptic phenotypes in mice

by Jessica L. Haigh, Anna Adhikari, Nycole A. Copping, Tyler Stradleigh, A. Ayanna Wade, Rinaldo Catta-Preta, Linda Su-Feher, Iva Zdilar, Sarah Morse, Timothy A. Fenton, Anh Nguyen, Diana Quintero, Samrawit Agezew, Michael Sramek, Ellie J. Kreun, Jasmine Carter, Andrea Gompers, Jason T. Lambert, Cesar P. Canales, Len A. Pennacchio, Axel Visel, Diane E. Dickel, Jill L. Silverman, Alex S. Nord
Published 2021-04-01

Reactivation of a developmentally silenced embryonic globin gene

by Andrew J. King, Duantida Songdej, Damien J. Downes, Robert A. Beagrie, Siyu Liu, Megan Buckley, Peng Hua, Maria C. Suciu, A. Marieke Oudelaar, Lars L. P. Hanssen, Danuta Jeziorska, Nigel Roberts, Stephanie J. Carpenter, Helena Francis, Jelena Telenius, Aude-Anais Olijnik, Jacqueline A. Sharpe, Jacqueline Sloane-Stanley, Jennifer Eglinton, Mira T. Kassouf, Stuart H. Orkin, Len A. Pennacchio, James O. J. Davies, Jim R. Hughes, Douglas R. Higgs, Christian Babbs
Published 2021-07-01

Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism

by Evin M. Padhi, Tristan J. Hayeck, Zhang Cheng, Sumantra Chatterjee, Brandon J. Mannion, Marta Byrska-Bishop, Marjolaine Willems, Lucile Pinson, Sylvia Redon, Caroline Benech, Kevin Uguen, Séverine Audebert-Bellanger, Cédric Le Marechal, Claude Férec, Stephanie Efthymiou, Fatima Rahman, Shazia Maqbool, Reza Maroofian, Henry Houlden, Rajeeva Musunuri, Giuseppe Narzisi, Avinash Abhyankar, Riana D. Hunter, Jennifer Akiyama, Lauren E. Fries, Jeffrey K. Ng, Elvisa Mehinovic, Nick Stong, Andrew S. Allen, Diane E. Dickel, Raphael A. Bernier, David U. Gorkin, Len A. Pennacchio, Michael C. Zody, Tychele N. Turner
Published 2021-07-01