PMC Links for Books (Select 4778824) - PMC

Select item 65030641.

Two further patients with Warsaw breakage syndrome. Is a mild phenotype possible?

Roberta Bottega, Luisa M. R. Napolitano, Anna Carbone, Enrico Cappelli, Fabio Corsolini, Silvia Onesti, Anna Savoia, Paolo Gasparini, Flavio Faletra

Mol Genet Genomic Med. 2019 May; 7(5): e639. Published online 2019 Mar 28. doi: 10.1002/mgg3.639

PMCID:: PMC6503064

Abstract Article PDF–622K

Select item 62897082.

Warsaw Breakage Syndrome: Further Clinical and Genetic Delineation

Ebba Alkhunaizi, Ranad Shaheen, Sanjay Kumar Bharti, Ann M. Joseph-George, Karen Chong, Ghada M H Abdel-Salam, Mohammed Alowain, Susan I Blaser, Blake C Papsin, Mohammed Butt, Mais Hashem, Nicole Martin, Ruth Godoy, Robert M. Brosh, Jr., Fowzan S Alkuraya, David Chitayat

Am J Med Genet A. Author manuscript; available in PMC 2019 Nov 1.

Published in final edited form as: Am J Med Genet A. 2018 Nov; 176(11): 2404–2418. Published online 2018 Sep 14. doi: 10.1002/ajmg.a.40482

PMCID:: PMC6289708

Abstract Article PDF–1.2M

Select item 45997803.

Identification and Biochemical Characterization of a Novel Mutation in DDX11 Causing Warsaw Breakage Syndrome

José-Mario Capo-Chichi, Sanjay Kumar Bharti, Joshua A. Sommers, Tony Yammine, Eliane Chouery, Lysanne Patry, Guy A. Rouleau, Mark E. Samuels, Fadi F. Hamdan, Jacques L. Michaud, Robert M. Brosh, Jr, André Mégarbane, Zoha Kibar

Hum Mutat. Author manuscript; available in PMC 2015 Oct 9.

Published in final edited form as: Hum Mutat. 2013 Jan; 34(1): 103–107. Published online 2012 Oct 17. doi: 10.1002/humu.22226

PMCID:: PMC4599780

Abstract Article PDF–282K

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 45370695.

Molecular functions and cellular roles of the ChlR1 (DDX11) helicase defective in the rare cohesinopathy Warsaw breakage syndrome

Sanjay Kumar Bharti, Irfan Khan, Taraswi Banerjee, Joshua A. Sommers, Yuliang Wu, Robert M. Brosh, Jr.

Cell Mol Life Sci. 2014 Jul; 71(14): 2625–2639. Published online 2014 Feb 1. doi: 10.1007/s00018-014-1569-4

PMCID:: PMC4537069

Abstract Article PDF–504K

Select item 28201746.

Warsaw Breakage Syndrome, a Cohesinopathy Associated with Mutations in the XPD Helicase Family Member DDX11/ChlR1

Petra van der Lelij, Krystyna H. Chrzanowska, Barbara C. Godthelp, Martin A. Rooimans, Anneke B. Oostra, Markus Stumm, Małgorzata Z. Zdzienicka, Hans Joenje, Johan P. de Winter

Am J Hum Genet. 2010 Feb 12; 86(2): 262–266. doi: 10.1016/j.ajhg.2010.01.008

PMCID:: PMC2820174

Abstract Article PDF–846K

Select item 1025737.

Characterization of the enzymatic activity of hChlR1, a novel human DNA helicase

Yasuhide Hirota, Jill M. Lahti

Nucleic Acids Res. 2000 Feb 15; 28(4): 917–924. doi: 10.1093/nar/28.4.917

PMCID:: PMC102573

Abstract Article PDF–356K

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