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Select item 74346091.

Non‐random distribution of deleterious mutations in the DNA and protein‐binding domains of IRF6 are associated with Van Der Woude syndrome

Azeez A. Alade, Carmen J. Buxo‐Martinez, Peter A. Mossey, Lord J.J. Gowans, Mekonen A. Eshete, Wasiu L. Adeyemo, Thirona Naicker, Waheed A. Awotoye, Chinyere Adeleke, Tamara Busch, Ada M. Toraño, Carolina A. Bello, Mairim Soto, Marilyn Soto, Ricardo Ledesma, Myrellis Marquez, Jose F. Cordero, Lydia M. Lopez‐Del Valle, Maria I. Salcedo, Natalio Debs, Mary Li, Aline Petrin, Joy Olotu, Colleen Aldous, James Olutayo, Modupe O. Ogunlewe, Fekir Abate, Taye Hailu, Ibrahim Muhammed, Paul Gravem, Milliard Deribew, Mulualem Gesses, Mohaned Hassan, John Pape, Oluwole A. Adeniyan, Solomon Obiri‐Yeboah, Fareed K.N. Arthur, Alexander A. Oti, Olubukola Olatosi, Sara E. Miller, Peter Donkor, Martine M. Dunnwald, Mary L. Marazita, Adebowale A. Adeyemo, Jeffrey C. Murray, Azeez Butali

Mol Genet Genomic Med. 2020 Aug; 8(8): e1355. Published online 2020 Jun 17. doi: 10.1002/mgg3.1355

PMCID:: PMC7434609

Abstract Article PDF–547K

Select item 64947902.

The TFAP2A–IRF6–GRHL3 genetic pathway is conserved in neurulation

Youssef A Kousa, Huiping Zhu, Walid D Fakhouri, Yunping Lei, Akira Kinoshita, Raeuf R Roushangar, Nicole K Patel, A J Agopian, Wei Yang, Elizabeth J Leslie, Tamara D Busch, Tamer A Mansour, Xiao Li, Arianna L Smith, Edward B Li, Dhruv B Sharma, Trevor J Williams, Yang Chai, Brad A Amendt, Eric C Liao, Laura E Mitchell, Alexander G Bassuk, Simon Gregory, Allison Ashley-Koch, Gary M Shaw, Richard H Finnell, Brian C Schutte

Hum Mol Genet. 2019 May 15; 28(10): 1726–1737. Published online 2019 Jan 25. doi: 10.1093/hmg/ddz010

PMCID:: PMC6494790

Abstract Article PDF–62M

Select item 47832753.

IRF6 mutation screening in nonsyndromic orofacial clefting: analysis of 1521 families

Elizabeth J. Leslie, Daniel C. Koboldt, Chul Joo Kang, Lian Ma, Jacqueline T. Hecht, George L. Wehby, Kaare Christensen, Andrew E. Czeizel, Frederic W.-B. Deleyiannis, Robert S. Fulton, Richard K. Wilson, Terri H. Beaty, Brian C. Schutte, Jeffrey C. Murray, Mary L. Marazita

Clin Genet. Author manuscript; available in PMC 2016 Jul 1.

Published in final edited form as: Clin Genet. 2016 Jul; 90(1): 28–34. Published online 2015 Oct 1. doi: 10.1111/cge.12675

PMCID:: PMC4783275

Abstract Article PDF–97K

Select item 45447534.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Abstract Article PDF–960K

Select item 39901695.

An etiologic regulatory mutation in IRF6 with loss- and gain-of-function effects

Walid D. Fakhouri, Fedik Rahimov, Catia Attanasio, Evelyn N. Kouwenhoven, Renata L. Ferreira De Lima, Temis Maria Felix, Larissa Nitschke, David Huver, Julie Barrons, Youssef A. Kousa, Elizabeth Leslie, Len A. Pennacchio, Hans Van Bokhoven, Axel Visel, Huiqing Zhou, Jeffrey C. Murray, Brian C. Schutte

Hum Mol Genet. 2014 May 15; 23(10): 2711–2720. Published online 2014 Jan 16. doi: 10.1093/hmg/ddt664

PMCID:: PMC3990169

Abstract Article PDF–933K

Select item 38827356.

Dominant Mutations in GRHL3 Cause Van der Woude Syndrome and Disrupt Oral Periderm Development

Myriam Peyrard-Janvid, Elizabeth J. Leslie, Youssef A. Kousa, Tiffany L. Smith, Martine Dunnwald, Måns Magnusson, Brian A. Lentz, Per Unneberg, Ingegerd Fransson, Hannele K. Koillinen, Jorma Rautio, Marie Pegelow, Agneta Karsten, Lina Basel-Vanagaite, William Gordon, Bogi Andersen, Thomas Svensson, Jeffrey C. Murray, Robert A. Cornell, Juha Kere, Brian C. Schutte

Am J Hum Genet. 2014 Jan 2; 94(1): 23–32. doi: 10.1016/j.ajhg.2013.11.009

PMCID:: PMC3882735

Abstract Article PDF–3.4M

Select item 37324637.

Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridization

Kazutoyo Osoegawa, Gery M. Vessere, Kagistia Hana Utami, Maria Adela Mansilla, Marla K. Johnson, Bridget M. Riley, Jamie L’Heureux, Rolph Pfundt, Johan Staaf, Walter A. van der Vliet, Andrew C. Lidral, Eric F. P. M. Schoenmakers, Ake Borg, Brian C. Schutte, Edward J. Lammer, Jeffrey C. Murray, Pieter J. de Jong

J Med Genet. Author manuscript; available in PMC 2013 Aug 3.

Published in final edited form as: J Med Genet. 2008 Feb; 45(2): 81–86. Published online 2007 Sep 14. doi: 10.1136/jmg.2007.052191

PMCID:: PMC3732463

Abstract Article PDF–499K

Select item 37233308.

Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases

Elizabeth J. Leslie, Jennifer Standley, John Compton, Sherri Bale, Brian C. Schutte, Jeffrey C. Murray

Genet Med. 2013 May; 15(5): 338–344. Published online 2012 Nov 15. doi: 10.1038/gim.2012.141

PMCID:: PMC3723330

Abstract Article PDF–492K

Select item 31694319.

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

Shinji Kondo, Brian C. Schutte, Rebecca J. Richardson, Bryan C. Bjork, Alexandra S. Knight, Yoriko Watanabe, Emma Howard, Renata L.L. Ferreira de Lima, Sandra Daack-Hirsch, Achim Sander, Donna M. McDonald-McGinn, Elaine H. Zackai, Edward J. Lammer, Arthur S. Aylsworth, Holly H. Ardinger, Andrew C. Lidral, Barbara R. Pober, Lina Moreno, Mauricio Arcos-Burgos, Consuelo Valencia, Claude Houdayer, Michel Bahuau, Danilo Moretti-Ferreira, Antonio Richieri-Costa, Michael J. Dixon, Jeffrey C. Murray

Nat Genet. Author manuscript; available in PMC 2011 Sep 8.

Published in final edited form as: Nat Genet. 2002 Oct; 32(2): 285–289. Published online 2002 Sep 3. doi: 10.1038/ng985

PMCID:: PMC3169431

Abstract Article PDF–748K

Select item 301869210.

Wound Complications Following Cleft Repair in Children with Van der Woude Syndrome

Jodi Jones, John W. Canady, James T. Brookes, George L. Wehby, Brian C. Schutte, Jeffrey C. Murray, Martine Dunnwald

J Craniofac Surg. Author manuscript; available in PMC 2011 Sep 1.

Published in final edited form as: J Craniofac Surg. 2010 Sep; 21(5): 1350–1353. doi: 10.1097/SCS.0b013e3181ec6aad

PMCID:: PMC3018692

Abstract Article PDF–42K

Select item 278939511.

Prevalence and non-random distribution of exonic mutations in Interferon Regulatory Factor 6 (IRF6) in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome

Renata L. L. Ferreira de Lima, Sarah A. Hoper, Michella Ghassibe, Margaret E. Cooper, Nicholas K. Rorick, Shinji Kondo, Lori Katz, Mary L. Marazita, John Compton, Sherri Bale, Ute Hehr, Michael J. Dixon, Sandra Daack-Hirsch, Odile Boute, Bénédicte Bayet, Nicole Revencu, Christine Verellen-Dumoulin, Miikka Vikkula, Antônio Richieri-Costa, Danilo Moretti-Ferreira, Jeffrey C. Murray, Brian C. Schutte

Genet Med. Author manuscript; available in PMC 2010 Apr 1.

Published in final edited form as: Genet Med. 2009 Apr; 11(4): 241–247. doi: 10.1097/GIM.0b013e318197a49a

PMCID:: PMC2789395

Abstract Article PDF–1.0M

Select item 270133512.

Integration of IRF6 and Jagged2 signalling is essential for controlling palatal adhesion and fusion competence

Rebecca J. Richardson, Jill Dixon, Rulang Jiang, Michael J. Dixon

Hum Mol Genet. 2009 Jul 15; 18(14): 2632–2642. Published online 2009 May 13. doi: 10.1093/hmg/ddp201

PMCID:: PMC2701335

Abstract Article PDF–1.1M

Select item 269168813.

Disruption of an AP-2a binding site in an IRF6 enhancer is strongly associated with cleft lip

Fedik Rahimov, Mary L. Marazita, Axel Visel, Margaret E. Cooper, Michael J. Hitchler, Michele Rubini, Frederick E. Domann, Manika Govil, Kaare Christensen, Camille Bille, Mads Melbye, Astanand Jugessur, Rolv T. Lie, Allen J. Wilcox, David R. Fitzpatrick, Eric D. Green, NISC Comparative Sequencing Program, Peter A. Mossey, Julian Little, Regine P. Steegers-Theunissen, Len A. Pennacchio, Brian C. Schutte, Jeffrey C. Murray

Nat Genet. Author manuscript; available in PMC 2009 Jun 5.

Published in final edited form as: Nat Genet. 2008 Nov; 40(11): 1341–1347. Published online 2008 Oct 5. doi: 10.1038/ng.242

PMCID:: PMC2691688

Abstract Article PDF–1.0M

Select item 208211414.

Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory factor 6 (Irf6)

Christopher R Ingraham, Akira Kinoshita, Shinji Kondo, Baoli Yang, Samin Sajan, Kurt J Trout, Margaret I Malik, Martine Dunnwald, Stephen L Goudy, Michael Lovett, Jeffrey C Murray, Brian C Schutte

Nat Genet. Author manuscript; available in PMC 2007 Nov 20.

Published in final edited form as: Nat Genet. 2006 Nov; 38(11): 1335–1340. Published online 2006 Oct 15. doi: 10.1083/ng1903

PMCID:: PMC2082114

Abstract Article PDF–1.0M

Select item 187071715.

Congenital Webbing of the Lower Limbs, Hands and Cleft Palate

B. J. S. Grogono

Proc R Soc Med. 1959 Jul; 52(7): 580.

PMCID:: PMC1870717

Summary Page Browse PDF–128K

Select item 173550116.

Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate

P Jezewski, A Vieira, C Nishimura, B Ludwig, M Johnson, S O'Brien, S Daack-Hirsch, R Schultz, A Weber, B Nepomucena, P Romitti, K Christensen, I Orioli, E Castilla, J Machida, N Natsume, J Murray

J Med Genet. 2003 Jun; 40(6): 399–407. doi: 10.1136/jmg.40.6.399