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Select item 44464121.

Genome engineering of isogenic human ES cells to model autism disorders

Refugio A. Martinez, Jason L. Stein, Anne-Rachel F. Krostag, Angelique M. Nelson, John S. Marken, Vilas Menon, Ryan C. May, Zizhen Yao, Ajamete Kaykas, Daniel H. Geschwind, Joshua S. Grimley

Nucleic Acids Res. 2015 May 26; 43(10): e65. Published online 2015 Mar 11. doi: 10.1093/nar/gkv164

PMCID:: PMC4446412

Abstract Article PDF–2.0M

Select item 45272822.

Variations in dysfunction of sister chromatid cohesion in esco2 mutant zebrafish reflect the phenotypic diversity of Roberts syndrome

Stefanie M. Percival, Holly R. Thomas, Adam Amsterdam, Andrew J. Carroll, Jacqueline A. Lees, H. Joseph Yost, John M. Parant

Dis Model Mech. 2015 Aug 1; 8(8): 941–955. doi: 10.1242/dmm.019059

PMCID:: PMC4527282

Abstract Article

Select item 44966763.

Function and Pathological Implications of Exon Junction Complex Factor Y14

Tzu-Wei Chuang, Kou-Ming Lee, Woan-Yuh Tarn

Biomolecules. 2015 Jun; 5(2): 343–355. Published online 2015 Apr 10. doi: 10.3390/biom5020343

PMCID:: PMC4496676

Abstract Article PDF–158K

Select item 44959074.

The roles of cohesins in mitosis, meiosis, and human health and disease

Amanda S. Brooker, Karen M. Berkowitz

Methods Mol Biol. Author manuscript; available in PMC 2015 Jul 8.

Published in final edited form as: Methods Mol Biol. 2014; 1170: 229–266. doi: 10.1007/978-1-4939-0888-2_11

PMCID:: PMC4495907

Abstract Article PDF–1.5M

Select item 44952545.

Pierpont Syndrome: A Collaborative Study

Emma MM Burkitt Wright, Mohnish Suri, Susan M White, Nicole de Leeuw, Anneke T Vulto-van Silfhout, Fiona Stewart, Shane McKee, Sahar Mansour, Fiona C Connell, Maya Chopra, Edwin P Kirk, Koen Devriendt, Willie Reardon, Han Brunner, Dian Donnai

Am J Med Genet A. 2011 Sep; 155(9): 2203–2211. Published online 2011 Aug 10. doi: 10.1002/ajmg.a.34147

PMCID:: PMC4495254

Abstract Article PDF–676K

Select item 44923886.

FGF8, c-Abl and p300 participate in a pathway that controls stability and function of the ΔNp63α protein

Michela Restelli, Elisa Molinari, Barbara Marinari, Daniele Conte, Nerina Gnesutta, Antonio Costanzo, Giorgio Roberto Merlo, Luisa Guerrini

Hum Mol Genet. 2015 Aug 1; 24(15): 4185–4197. Published online 2015 Apr 24. doi: 10.1093/hmg/ddv151

PMCID:: PMC4492388

Abstract Article PDF–838K

Select item 44864167.

Hox Genes Regulate Digit Patterning by Controlling the Wavelength of a Turing-Type Mechanism

Rushikesh Sheth, Luciano Marcon, M. Félix Bastida, Marisa Junco, Laura Quintana, Randall Dahn, Marie Kmita, James Sharpe, Maria A. Ros

Science. Author manuscript; available in PMC 2015 Jul 1.

Published in final edited form as: Science. 2012 Dec 14; 338(6113): 1476–1480. doi: 10.1126/science.1226804

PMCID:: PMC4486416

Abstract Article PDF–1.0M

Select item 44863918.

GLI3 Constrains Digit Number by Controlling Both Progenitor Proliferation and BMP-Dependent Exit to Chondrogenesis

Javier Lopez-Rios, Dario Speziale, Dimitri Robay, Martina Scotti, Marco Osterwalder, Gretel Nusspaumer, Antonella Galli, Georg A. Holländer, Marie Kmita, Rolf Zeller

Dev Cell. Author manuscript; available in PMC 2015 Jul 1.

Published in final edited form as: Dev Cell. 2012 Apr 17; 22(4): 837–848. Published online 2012 Mar 29. doi: 10.1016/j.devcel.2012.01.006

PMCID:: PMC4486391

Abstract Article PDF–1.7M

Select item 44855219.

An allelic series of miR-17~92 mutant mice uncovers functional specialization and cooperation among members of a miRNA polycistron

Yoon-Chi Han, Joana A. Vidigal, Ping Mu, Evelyn Yao, Irtisha Singh, Alvaro J. González, Carla P. Concepcion, Ciro Bonetti, Paul Ogrodowski, Brett Carver, Licia Selleri, Doron Betel, Christina Leslie, Andrea Ventura

Nat Genet. Author manuscript; available in PMC 2016 Jan 1.

Published in final edited form as: Nat Genet. 2015 Jul; 47(7): 766–775. Published online 2015 Jun 1. doi: 10.1038/ng.3321

PMCID:: PMC4485521

Abstract Article PDF–2.5M

Select item 448257010.

Abnormal Activation of BMP Signaling Causes Myopathy in Fbn2 Null Mice

Gerhard Sengle, Valerie Carlberg, Sara F. Tufa, Noe L. Charbonneau, Silvia Smaldone, Eric J. Carlson, Francesco Ramirez, Douglas R. Keene, Lynn Y. Sakai

PLoS Genet. 2015 Jun; 11(6): e1005340. Published online 2015 Jun 26. doi: 10.1371/journal.pgen.1005340

PMCID:: PMC4482570

Abstract Article PDF–22M

Select item 447033211.

Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome

S. Paige Taylor, Tiago J. Dantas, Ivan Duran, Sulin Wu, Ralph S. Lachman, University of Washington Center for Mendelian Genomics, Stanley F. Nelson, Daniel H. Cohn, Richard B. Vallee, Deborah Krakow

Nat Commun. Author manuscript; available in PMC 2015 Dec 16.

Published in final edited form as: Nat Commun. 2015; 6: 7092. Published online 2015 Jun 16. doi: 10.1038/ncomms8092

PMCID:: PMC4470332

Abstract Article PDF–1.8M

Select item 446819312.

A 20 bp Duplication in Exon 2 of the Aristaless-Like Homeobox 4 Gene (ALX4) Is the Candidate Causative Mutation for Tibial Hemimelia Syndrome in Galloway Cattle

Bertram Brenig, Ekkehard Schütz, Michael Hardt, Petra Scheuermann, Markus Freick

PLoS One. 2015; 10(6): e0129208. Published online 2015 Jun 15. doi: 10.1371/journal.pone.0129208

Correction in:: PLoS One. 2024; 19(9): e0310790.

PMCID:: PMC4468193

Abstract Article PDF–5.4M

Select item 446812513.

Differentially Expressed Genes in EEC and LMS Syndromes

Wei Yin, Yaling Song, Yangge Du, Zhuan Bian

PLoS One. 2015; 10(6): e0129432. Published online 2015 Jun 15. doi: 10.1371/journal.pone.0129432

PMCID:: PMC4468125

Abstract Article PDF–2.2M

Select item 446763814.

PCSK5 mutation in a patient with the VACTERL association

Yukio Nakamura, Shingo Kikugawa, Shoji Seki, Masahiko Takahata, Norimasa Iwasaki, Hidetomi Terai, Mitsuhiro Matsubara, Fumio Fujioka, Hidehito Inagaki, Tatsuya Kobayashi, Tomoatsu Kimura, Hiroki Kurahashi, Hiroyuki Kato

BMC Res Notes. 2015; 8: 228. Published online 2015 Jun 9. doi: 10.1186/s13104-015-1166-0

PMCID:: PMC4467638

Abstract Article PDF–2.5M

Select item 445375915.

Amelia: A Multi-Center Descriptive Epidemiologic Study in a Large Dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and Overview of the Literature

EVA BERMEJO-SÁNCHEZ, LOURDES CUEVAS, EMMANUELLE AMAR, MARIAN K. BAKKER, SEBASTIANO BIANCA, FABRIZIO BIANCHI, MARK A. CANFIELD, EDUARDO E. CASTILLA, MAURIZIO CLEMENTI, GUIDO COCCHI, MARCIA L. FELDKAMP, DANIELLE LANDAU, EMANUELE LEONCINI, ZHU LI, R. BRIAN LOWRY, PIERPAOLO MASTROIACOVO, OSVALDO M. MUTCHINICK, ANKE RISSMANN, ANNUKKA RITVANEN, GIOACCHINO SCARANO, CSABA SIFFEL, ELENA SZABOVA, MARÍA-LUISA MARTÍNEZ-FRÍAS

Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2015 Jun 3.

Published in final edited form as: Am J Med Genet C Semin Med Genet. 2011 Nov 15; 0(4): 288–304. Published online 2011 Oct 14. doi: 10.1002/ajmg.c.30319

PMCID:: PMC4453759

Abstract Article PDF–857K

Select item 444932416.

A hypomorphic allele reveals an important role of Inturned in mouse skeletal development

Rachel Chang, Juliette R. Petersen, Lee A. Niswander, Aimin Liu

Dev Dyn. Author manuscript; available in PMC 2016 Jun 1.

Published in final edited form as: Dev Dyn. 2015 Jun; 244(6): 736–747. Published online 2015 May 25. doi: 10.1002/dvdy.24272

PMCID:: PMC4449324

Abstract Article PDF–2.9M

Select item 452903717.

Evf2 lncRNA/BRG1/DLX1 interactions reveal RNA-dependent inhibition of chromatin remodeling

Ivelisse Cajigas, David E. Leib, Jesse Cochrane, Hao Luo, Kelsey R. Swyter, Sean Chen, Brian S. Clark, James Thompson, John R. Yates, III, Robert E. Kingston, Jhumku D. Kohtz

Development. 2015 Aug 1; 142(15): 2641–2652. doi: 10.1242/dev.126318

PMCID:: PMC4529037

Abstract Article

Select item 444348818.

Expansion of the TARP Syndrome Phenotype Associated with De Novo Mutations and Mosaicism

Jennifer J. Johnston, Julie C. Sapp, Cynthia Curry, Margaret Horton, Eyby Leon, Kristina Cusmano-Ozog, William B. Dobyns, Louanne Hudgins, Elaine Zackai, Leslie G. Biesecker

Am J Med Genet A. Author manuscript; available in PMC 2015 May 26.

Published in final edited form as: Am J Med Genet A. 2014 Jan; 0(1): 120–128. Published online 2013 Nov 20. doi: 10.1002/ajmg.a.36212

PMCID:: PMC4443488

Abstract Article PDF–3.7M

Select item 444150719.

Suppressor of Fused Is Required for Determining Digit Number and Identity via Gli3/Fgfs/Gremlin

Jianying Li, Qihui Wang, Ying Cui, Xueqin Yang, Yan Li, Xiaoyun Zhang, Mengsheng Qiu, Ze Zhang, Zunyi Zhang

PLoS One. 2015; 10(5): e0128006. Published online 2015 May 22. doi: 10.1371/journal.pone.0128006

PMCID:: PMC4441507

Abstract Article PDF–36M

Select item 443989720.

A Case of Thanatophoric Dysplasia Type 2: A Novel Mutation

Selvi Gülaşı, Aytuğ Atıcı, Yalçın Çelik

J Clin Res Pediatr Endocrinol. 2015 Mar; 7(1): 73–76. Published online 2015 Mar 5. doi: 10.4274/jcrpe.1703

PMCID:: PMC4439897

Abstract Article PDF–110K

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