Genotype-Phenotype Correlations in 208 Individuals with Coffin-Siris Syndrome

by Ashley Vasko, Theodore G. Drivas, Samantha A. Schrier Vergano
Published 2021-06-01

Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome: a case report

by Shukla Umesh, Yadav Dinesh K, Goyal Deepak, Sethi Sidharth K
Published 2010-11-01

Successful anesthetic and airway management in Coffin-Siris syndrome with congenital heart disease: Case report

by Dilek Altun, Güray Demir, Asude Ayhan, Ayda Türköz
Published 2016-10-01

Mutations in SMARCB1 and in other Coffin–Siris syndrome genes lead to various brain midline defects

by Alina Filatova, Linda K. Rey, Marion B. Lechler, Jörg Schaper, Maja Hempel, Renata Posmyk, Krzysztof Szczaluba, Gijs W. E. Santen, Dagmar Wieczorek, Ulrike A. Nuber
Published 2019-07-01

First observation of secondary childhood glaucoma in Coffin-Siris syndrome: a case report and literature review

by Heidi Diel, Can Ding, Franz Grehn, Panagiotis Chronopoulos, Oliver Bartsch, Esther M. Hoffmann
Published 2021-01-01

Coffin-Siris syndrome with the rarest constellation of congenital cardiac defects: A case report with review of literature

by Lalita Nemani, Ramachandra Barik, Amar Narayana Patnaik, Ramesh C Mishra, Amaresh M Rao, Pragati Kapur
Published 2014-01-01

De novo splice site variant of ARID1B associated with pathogenesis of Coffin–Siris syndrome

by Laura Pranckėnienė, Evelina Siavrienė, Lucie Gueneau, Eglė Preikšaitienė, Violeta Mikštienė, Alexandre Reymond, Vaidutis Kučinskas
Published 2019-12-01

Correction to: First observation of secondary childhood glaucoma in Coffin-Siris syndrome: a case report and literature review

by Heidi Diel, Can Ding, Franz Grehn, Panagiotis Chronopoulos, Oliver Bartsch, Esther M. Hoffmann
Published 2021-01-01

Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4

by Gerarda Cappuccio, Raffaella Brunetti‐Pierri, Annalaura Torella, Michele Pinelli, Raffaele Castello, Giorgio Casari, Vincenzo Nigro, Sandro Banfi, Francesca Simonelli, TUDP, Nicola Brunetti‐Pierri
Published 2019-06-01

Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin–Siris Syndrome

by Christopher M. Grochowski, Ana C. V. Krepischi, Jesper Eisfeldt, Jesper Eisfeldt, Haowei Du, Debora R. Bertola, Debora R. Bertola, Danyllo Oliveira, Silvia S. Costa, James R. Lupski, James R. Lupski, James R. Lupski, James R. Lupski, Anna Lindstrand, Anna Lindstrand, Claudia M. B. Carvalho, Claudia M. B. Carvalho
Published 2021-08-01

CRISPR/Cas9 mediated generation of human ARID1B heterozygous knockout hESC lines to model Coffin-Siris syndrome

by Tom Boerstler, Holger Wend, Mandy Krumbiegel, Atria Kavyanifar, André Reis, Dieter Chichung Lie, Beate Winner, Soeren Turan
Published 2020-08-01

Correction: Duplication of , and in an Obese Female with a t(7;22)(q32.1;q11.2) Chromosomal Translocation and Clinical Features Resembling Coffin-Siris Syndrome.

by Jun Zhu, Jun Qiu, Gregg Magrane, Malak Abedalthagafi, Andrea Zanko, Mahin Golabi, Farid F. Chehab
Published 2013-01-01

Neuroanatomy and behavior in mice with a haploinsufficiency of AT-rich interactive domain 1B (ARID1B) throughout development

by J. Ellegood, S. P. Petkova, A. Kinman, L. R. Qiu, A. Adhikari, A. A. Wade, D. Fernandes, Z. Lindenmaier, A. Creighton, L. M. J. Nutter, A. S. Nord, J. L. Silverman, J. P. Lerch
Published 2021-03-01

Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment

by Cemre Celen, Jen-Chieh Chuang, Xin Luo, Nadine Nijem, Angela K Walker, Fei Chen, Shuyuan Zhang, Andrew S Chung, Liem H Nguyen, Ibrahim Nassour, Albert Budhipramono, Xuxu Sun, Levinus A Bok, Meriel McEntagart, Evelien F Gevers, Shari G Birnbaum, Amelia J Eisch, Craig M Powell, Woo-Ping Ge, Gijs WE Santen, Maria Chahrour, Hao Zhu
Published 2017-07-01

A Case Series of Familial <i>ARID1B</i> Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria

by Pleuntje J. van der Sluijs, Mariëlle Alders, Alexander J. M. Dingemans, Kareesma Parbhoo, Bregje W. van Bon, Jennifer C. Dempsey, Dan Doherty, Johan T. den Dunnen, Erica H. Gerkes, Ilana M. Milller, Stephanie Moortgat, Debra S. Regier, Claudia A. L. Ruivenkamp, Betsy Schmalz, Thomas Smol, Kyra E. Stuurman, Catherine Vincent-Delorme, Bert B. A. de Vries, Bekim Sadikovic, Scott E. Hickey, Jill A. Rosenfeld, Isabelle Maystadt, Gijs W. E. Santen
Published 2021-08-01

Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability Disorders

by Nina Bögershausen, Bernd Wollnik
Published 2018-08-01

Duplication of C7orf58, WNT16 and FAM3C in an obese female with a t(7;22)(q32.1;q11.2) chromosomal translocation and clinical features resembling Coffin-Siris Syndrome.

by Jun Zhu, Jun Qiu, Gregg Magrane, Malak Abedalthagafi, Andrea Zanko, Mahin Golabi, Farid F Chehab
Published 2012-01-01

Correction: Duplication of C7orf58, WNT16 and FAM3C in an Obese Female with a t(7;22)(q32.1;q11.2) Chromosomal Translocation and Clinical Features Resembling Coffin-Siris Syndrome

by Jun Zhu, Jun Qiu, Gregg Magrane, Malak Abedalthagafi, Andrea Zanko, Mahin Golabi, Farid F. Chehab
Published 2013-01-01

Simple schwannomatosis or an incomplete Coffin-Siris? Report of a particular case

by G. Bellantoni, F. Guerrini, M. Del Maestro, R. Galzio, S. Luzzi
Published 2019-03-01

The Evolutionary Conserved SWI/SNF Subunits ARID1A and ARID1B Are Key Modulators of Pluripotency and Cell-Fate Determination

by Luca Pagliaroli, Marco Trizzino
Published 2021-03-01