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Items: 1 to 20 of 22

1.
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms
Scott Barish, Tahsin Stefan Barakat, Brittany C. Michel, Nazar Mashtalir, Jennifer B. Phillips, Alfredo M. Valencia, Berrak Ugur, Jeremy Wegner, Tiana M. Scott, Brett Bostwick, Undiagnosed Diseases Network, David R. Murdock, Hongzheng Dai, Elena Perenthaler, Anita Nikoncuk, Marjon van Slegtenhorst, Alice S. Brooks, Boris Keren, Caroline Nava, Cyril Mignot, Jessica Douglas, Lance Rodan, Catherine Nowak, Sian Ellard, Karen Stals, Sally Ann Lynch, Marie Faoucher, Gaetan Lesca, Patrick Edery, Kendra L. Engleman, Dihong Zhou, Isabelle Thiffault, John Herriges, Jennifer Gass, Raymond J. Louie, Elliot Stolerman, Camerun Washington, Francesco Vetrini, Aiko Otsubo, Victoria M. Pratt, Erin Conboy, Kayla Treat, Nora Shannon, Jose Camacho, Emma Wakeling, Bo Yuan, Chun-An Chen, Jill A. Rosenfeld, Monte Westerfield, Michael Wangler, Shinya Yamamoto, Cigall Kadoch, Daryl A. Scott, Hugo J. Bellen
Am J Hum Genet. 2020 Dec 3; 107(6): 1096–1112. Published online 2020 Nov 23. doi: 10.1016/j.ajhg.2020.11.003
PMCID:
PMC7820627
AbstractArticlePDF–2.8M
2.
A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies
Kevin C.J. Nixon, Justine Rousseau, Max H. Stone, Mohammed Sarikahya, Sophie Ehresmann, Seiji Mizuno, Naomichi Matsumoto, Noriko Miyake, DDD Study, Diana Baralle, Shane McKee, Kosuke Izumi, Alyssa L. Ritter, Solveig Heide, Delphine Héron, Christel Depienne, Hannah Titheradge, Jamie M. Kramer, Philippe M. Campeau
Am J Hum Genet. 2019 Apr 4; 104(4): 596–610. Published online 2019 Mar 14. doi: 10.1016/j.ajhg.2019.02.001
PMCID:
PMC6451697
AbstractArticlePDF–2.0M
3.
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism
Ash Zawerton, Baojin Yao, J. Paige Yeager, Tommaso Pippucci, Abdul Haseeb, Joshua D. Smith, Lisa Wischmann, Susanne J. Kühl, John C.S. Dean, Daniela T. Pilz, Susan E. Holder, Deciphering Developmental Disorders Study, University of Washington Center for Mendelian Genomics, Alisdair McNeill, Claudio Graziano, Véronique Lefebvre
Am J Hum Genet. 2019 Feb 7; 104(2): 246–259. Published online 2019 Jan 17. doi: 10.1016/j.ajhg.2018.12.014
Correction in:
Am J Hum Genet. 2019 Apr 4; 104(4): 777.
PMCID:
PMC6369454
AbstractArticlePDF–3.1M
4.
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay
Keren Machol, Justine Rousseau, Sophie Ehresmann, Thomas Garcia, Thi Tuyet Mai Nguyen, Rebecca C. Spillmann, Jennifer A. Sullivan, Vandana Shashi, Yong-hui Jiang, Nicholas Stong, Elise Fiala, Marcia Willing, Rolph Pfundt, Tjitske Kleefstra, Megan T. Cho, Heather McLaughlin, Monica Rosello Piera, Carmen Orellana, Francisco Martínez, Alfonso Caro-Llopis, Sandra Monfort, Tony Roscioli, Cheng Yee Nixon, Michael F. Buckley, Anne Turner, Wendy D. Jones, Peter M. van Hasselt, Floris C. Hofstede, Koen L.I. van Gassen, Alice S. Brooks, Marjon A. van Slegtenhorst, Katherine Lachlan, Jessica Sebastian, Suneeta Madan-Khetarpal, Desai Sonal, Naidu Sakkubai, Julien Thevenon, Laurence Faivre, Alice Maurel, Slavé Petrovski, Ian D. Krantz, Jennifer M. Tarpinian, Jill A. Rosenfeld, Brendan H. Lee, Undiagnosed Diseases Network, Philippe M. Campeau
Am J Hum Genet. 2019 Jan 3; 104(1): 164–178. Published online 2018 Dec 20. doi: 10.1016/j.ajhg.2018.11.007
PMCID:
PMC6323608
AbstractArticlePDF–1.8M
5.
Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome
Georgia Vasileiou, Silvia Vergarajauregui, Sabine Endele, Bernt Popp, Christian Büttner, Arif B. Ekici, Marion Gerard, Nuria C. Bramswig, Beate Albrecht, Jill Clayton-Smith, Jenny Morton, Susan Tomkins, Karen Low, Astrid Weber, Maren Wenzel, Janine Altmüller, Yun Li, Bernd Wollnik, George Hoganson, Maria-Renée Plona, Megan T. Cho, Deciphering Developmental Disorders Study, Christian T. Thiel, Hermann-Josef Lüdecke, Tim M. Strom, Eduardo Calpena, Andrew O.M. Wilkie, Dagmar Wieczorek, Felix B. Engel, André Reis
Am J Hum Genet. 2018 Mar 1; 102(3): 468–479. Published online 2018 Feb 8. doi: 10.1016/j.ajhg.2018.01.014
PMCID:
PMC5985265
AbstractArticlePDF–2.1M
6.
Gonadal Mosaicism in ARID1B Gene Causes Intellectual Disability and Dysmorphic Features in Three Siblings
Salma Ben-Salem, Nara Sobreira, Nadia A. Akawi, Aisha M. Al-Shamsi, Anne John, Thachillath Pramathan, David Valle, Bassam R. Ali, Lihadh Al-Gazali
Am J Med Genet A. Author manuscript; available in PMC 2017 May 30.
Published in final edited form as: Am J Med Genet A. 2016 Jan; 170A(1): 156–161. Published online 2015 Sep 23. doi: 10.1002/ajmg.a.37405
PMCID:
PMC5448135
AbstractArticlePDF–177K
7.
Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome
Annmarie Hempel, Alistair T Pagnamenta, Moira Blyth, Sahar Mansour, Vivienne McConnell, Ikuyo Kou, Shiro Ikegawa, Yoshinori Tsurusaki, Naomichi Matsumoto, Adriana Lo-Castro, Ghislaine Plessis, Beate Albrecht, Agatino Battaglia, Jenny C Taylor, Malcolm F Howard, David Keays, Aman Singh Sohal, DDD collaboration, Susanne J Kühl, Usha Kini, Alisdair McNeill
J Med Genet. 2016 Mar; 53(3): 152–162. Published online 2015 Nov 5. doi: 10.1136/jmedgenet-2015-103393
PMCID:
PMC4789813
AbstractArticlePDF–1.2M
8.
SWI/SNF Chromatin Remodeling Complexes and Cancer
Jaclyn A Biegel, Tracy M. Busse, Bernard E. Weissman
Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2015 Sep 1.
Published in final edited form as: Am J Med Genet C Semin Med Genet. 2014 Sep; 0(3): 350–366. Published online 2014 Aug 28. doi: 10.1002/ajmg.c.31410
PMCID:
PMC4516040
AbstractArticlePDF–852K
9.
Essential role of BAF complex interacting with Pax6 in establishment of a core cross-regulatory neurogenic network
Jovica Ninkovic, Andrea Steiner-Mezzadri, Melanie Jawerka, Umut Akinci, Giacomo Masserdotti, Stefania Petricca, Judith Fischer, Alexander von Holst, Johanes Beckers, Chichung D. Lie, David Petrik, Erik Miller, Jiong Tang, Jiang Wu, Veronique Lefebvre, Jeroen Demmers, Amelia Eisch, Daniel Metzger, Gerald Crabtree, Martin Irmler, Raymond Poot, Magdalena Götz
Cell Stem Cell. Author manuscript; available in PMC 2014 Jul 15.
Published in final edited form as: Cell Stem Cell. 2013 Oct 3; 13(4): 403–418. Published online 2013 Aug 8. doi: 10.1016/j.stem.2013.07.002
PMCID:
PMC4098720
AbstractArticlePDF–4.6M
10.
From neural development to cognition: unexpected roles for chromatin
Jehnna L. Ronan, Wei Wu, Gerald R. Crabtree
Nat Rev Genet. Author manuscript; available in PMC 2014 May 5.
Published in final edited form as: Nat Rev Genet. 2013 May; 14(5): 347–359. Published online 2013 Apr 9. doi: 10.1038/nrg3413
Correction in:
volume 14 on page 440
PMCID:
PMC4010428
AbstractArticlePDF–767K
11.
Clinical Features of Schwannomatosis: A Retrospective Analysis of 87 Patients
Vanessa L. Merker, Sonia Esparza, Miriam J. Smith, Anat Stemmer-Rachamimov, Scott R. Plotkin
Oncologist. 2012 Oct; 17(10): 1317–1322. Published online 2012 Aug 27. doi: 10.1634/theoncologist.2012-0162
PMCID:
PMC3481897
AbstractArticlePDF–532K
12.
Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B
C Halgren, S Kjaergaard, M Bak, C Hansen, Z El-Schich, CM Anderson, KF Henriksen, H Hjalgrim, M Kirchhoff, EK Bijlsma, M Nielsen, NS den Hollander, CAL Ruivenkamp, B Isidor, C Le Caignec, R Zannolli, M Mucciolo, A Renieri, F Mari, B-M Anderlid, J Andrieux, A Dieux, N Tommerup, I Bache
Clin Genet. 2012 Sep; 82(3): 248–255. doi: 10.1111/j.1399-0004.2011.01755.x
PMCID:
PMC3464360
AbstractArticlePDF–955K
13.
The Coffin-Siris syndrome: A Proposed Diagnostic Approach and Assessment of 15 Overlapping Cases
Samantha A. Schrier, Joann N. Bodurtha, Barbara Burton, Albert E. Chudley, Mary Anne D. Chiong, Maria Gabriella D’avanzo, Sally Ann Lynch, Antonio Musio, Dmitriy M. Nyazov, Pedro A. Sanchez-Lara, Stavit A. Shalev, Matthew A. Deardorff
Am J Med Genet A. Author manuscript; available in PMC 2013 Aug 1.
Published in final edited form as: Am J Med Genet A. 2012 Aug; 158A(8): 1865–1876. Published online 2012 Jun 18. doi: 10.1002/ajmg.a.35415
PMCID:
PMC3402612
AbstractArticlePDF–599K
14.
Disruption of an EHMT1-Associated Chromatin-Modification Module Causes Intellectual Disability
Tjitske Kleefstra, Jamie M. Kramer, Kornelia Neveling, Marjolein H. Willemsen, Tom S. Koemans, Lisenka E.L.M. Vissers, Willemijn Wissink-Lindhout, Michaela Fenckova, Willem M.R. van den Akker, Nael Nadif Kasri, Willy M. Nillesen, Trine Prescott, Robin D. Clark, Koenraad Devriendt, Jeroen van Reeuwijk, Arjan P.M. de Brouwer, Christian Gilissen, Huiqing Zhou, Han G. Brunner, Joris A. Veltman, Annette Schenck, Hans van Bokhoven
Am J Hum Genet. 2012 Jul 13; 91(1): 73–82. doi: 10.1016/j.ajhg.2012.05.003
PMCID:
PMC3397275
AbstractArticlePDF–770K
15.
Haploinsufficiency of ARID1B, a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability
Juliane Hoyer, Arif B. Ekici, Sabine Endele, Bernt Popp, Christiane Zweier, Antje Wiesener, Eva Wohlleber, Andreas Dufke, Eva Rossier, Corinna Petsch, Markus Zweier, Ina Göhring, Alexander M. Zink, Gudrun Rappold, Evelin Schröck, Dagmar Wieczorek, Olaf Riess, Hartmut Engels, Anita Rauch, André Reis
Am J Hum Genet. 2012 Mar 9; 90(3): 565–572. doi: 10.1016/j.ajhg.2012.02.007
PMCID:
PMC3309205
AbstractArticlePDF–704K
16.
Epithelioid Malignant Peripheral Nerve Sheath Tumor Arising in a Schwannoma, in a Patient with “Neuroblastoma-like” Schwannomatosis and a Novel Germline SMARCB1 mutation
Jodi M. Carter, Carolyn O'Hara, George Dundas, Dawna Gilchrist, Mark S. Collins, Katherine Eaton, Alexander R. Judkins, Jaclyn A. Biegel, Andrew L. Folpe
Am J Surg Pathol. Author manuscript; available in PMC 2013 Jan 1.
Published in final edited form as: Am J Surg Pathol. 2012 Jan; 36(1): 154–160. doi: 10.1097/PAS.0b013e3182380802
PMCID:
PMC3241826
AbstractArticlePDF–2.3M
17.
Interstitial deletion of 6q25.2–q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss
Sandesh Chakravarthy Sreenath Nagamani, Ayelet Erez, Christine Eng, Zhishuo Ou, Craig Chinault, Laura Workman, James Coldwell, Pawel Stankiewicz, Ankita Patel, James R Lupski, Sau Wai Cheung
Eur J Hum Genet. 2009 May; 17(5): 573–581. Published online 2008 Nov 26. doi: 10.1038/ejhg.2008.220
PMCID:
PMC2986272
AbstractArticlePDF–298K
18.
Germline Nonsense Mutation and Somatic Inactivation of SMARCA4/BRG1 in a Family with Rhabdoid Tumor Predisposition Syndrome
Reinhard Schneppenheim, Michael C. Frühwald, Stefan Gesk, Martin Hasselblatt, Astrid Jeibmann, Uwe Kordes, Markus Kreuz, Ivo Leuschner, Jose Ignacio Martin Subero, Tobias Obser, Florian Oyen, Inga Vater, Reiner Siebert
Am J Hum Genet. 2010 Feb 12; 86(2): 279–284. doi: 10.1016/j.ajhg.2010.01.013
PMCID:
PMC2820190
AbstractArticlePDF–587K
19.
The role of SMARCB1/INI1 in development of rhabdoid tumor
Charles W.M. Roberts, Jaclyn A. Biegel
Cancer Biol Ther. Author manuscript; available in PMC 2009 Jul 13.
Published in final edited form as: Cancer Biol Ther. 2009 Mar; 8(5): 412–416. Published online 2009 Mar 29. doi: 10.4161/cbt.8.5.8019
PMCID:
PMC2709499
AbstractArticlePDF–402K
20.
Mental retardation, cataracts, and unexplained hyperphosphatasia.
W J Gomes, J L Hunter
Arch Dis Child. 1970 Oct; 45(243): 726–727. doi: 10.1136/adc.45.243.726
PMCID:
PMC1647537
SummaryPage BrowsePDF–330K

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