PMC Links for Books (Select 3043720) - PMC

Select item 74972891.

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting

Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper

Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3

PMCID:: PMC7497289

Abstract Article PDF–2.5M

Select item 73858622.

EZH2: a novel target for cancer treatment

Ran Duan, Wenfang Du, Weijian Guo

J Hematol Oncol. 2020; 13: 104. Published online 2020 Jul 28. doi: 10.1186/s13045-020-00937-8

PMCID:: PMC7385862

Abstract Article PDF–1.4M

Select item 72122653.

DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes

Sanaa Choufani, William T. Gibson, Andrei L. Turinsky, Brian H.Y. Chung, Tianren Wang, Kopal Garg, Alessandro Vitriolo, Ana S.A. Cohen, Sharri Cyrus, Sarah Goodman, Eric Chater-Diehl, Jack Brzezinski, Michael Brudno, Luk Ho Ming, Susan M. White, Sally Ann Lynch, Carol Clericuzio, I. Karen Temple, Frances Flinter, Vivienne McConnell, Tom Cushing, Lynne M. Bird, Miranda Splitt, Bronwyn Kerr, Stephen W. Scherer, Jerry Machado, Eri Imagawa, Nobuhiko Okamoto, Naomichi Matsumoto, Guiseppe Testa, Maria Iascone, Romano Tenconi, Oana Caluseriu, Roberto Mendoza-Londono, David Chitayat, Cheryl Cytrynbaum, Katrina Tatton-Brown, Rosanna Weksberg

Am J Hum Genet. 2020 May 7; 106(5): 596–610. Published online 2020 Apr 2. doi: 10.1016/j.ajhg.2020.03.008

PMCID:: PMC7212265

Abstract Article PDF–2.6M

Select item 62765764.

Ezh2 Mutations Found in the Weaver Overgrowth Syndrome Cause a Partial Loss of H3K27 Histone Methyltransferase Activity

Julian C Lui, Kevin M Barnes, Lijin Dong, Shanna Yue, Evan Graber, Robert Rapaport, Andrew Dauber, Ola Nilsson, Jeffrey Baron

J Clin Endocrinol Metab. 2018 Apr; 103(4): 1470–1478. Published online 2017 Dec 13. doi: 10.1210/jc.2017-01948

PMCID:: PMC6276576

Abstract Article

Select item 61751105.

Further delineation of Malan syndrome

Manuela Priolo, Denny Schanze, Katrin Tatton‐Brown, Paul A. Mulder, Jair Tenorio, Kreepa Kooblall, Inés Hernández Acero, Fowzan S. Alkuraya, Pedro Arias, Laura Bernardini, Emilia K. Bijlsma, Trevor Cole, Christine Coubes, Irene Dapia, Sally Davies, Nataliya Di Donato, Nursel H. Elcioglu, Jill A. Fahrner, Alison Foster, Noelia García González, Ilka Huber, Maria Iascone, Ann‐Sophie Kaiser, Arveen Kamath, Jan Liebelt, Sally Ann Lynch, Saskia M. Maas, Corrado Mammì, Inge B. Mathijssen, Shane McKee, Leonie A. Menke, Ghayda M. Mirzaa, Tara Montgomery, Dorothee Neubauer, Thomas E. Neumann, Letizia Pintomalli, Maria Antonietta Pisanti, Astrid S. Plomp, Sue Price, Claire Salter, Fernando Santos‐Simarro, Pierre Sarda, Mabel Segovia, Charles Shaw‐Smith, Sarah Smithson, Mohnish Suri, Rita Maria Valdez, Arie Van Haeringen, Johanna M. Van Hagen, Marcela Zollino, Pablo Lapunzina, Rajesh V. Thakker, Martin Zenker, Raoul C. Hennekam

Hum Mutat. 2018 Sep; 39(9): 1226–1237. Published online 2018 Jun 25. doi: 10.1002/humu.23563

PMCID:: PMC6175110

Abstract Article PDF–751K

Select item 59355456.

Allosteric activation dictates PRC2 activity independent of its recruitment to chromatin

Chul-Hwan Lee, Jia-Ray Yu, Sunil Kumar, Ying Jin, Gary LeRoy, Natarajan Bhanu, Syuzo Kaneko, Benjamin A. Garcia, Andrew D. Hamilton, Danny Reinberg

Mol Cell. Author manuscript; available in PMC 2019 May 3.

Published in final edited form as: Mol Cell. 2018 May 3; 70(3): 422–434.e6. Published online 2018 Apr 19. doi: 10.1016/j.molcel.2018.03.020

PMCID:: PMC5935545

Abstract Article PDF–1015K

Select item 48323897.

Weaver Syndrome‐Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro

Ana S.A. Cohen, Damian B. Yap, M.E. Suzanne Lewis, Chieko Chijiwa, Maria A. Ramos‐Arroyo, Natália Tkachenko, Valentina Milano, Mélanie Fradin, Margaret L. McKinnon, Katelin N. Townsend, Jieqing Xu, M.I. Van Allen, Colin J.D. Ross, William B. Dobyns, David D. Weaver, William T. Gibson

Hum Mutat. 2016 Mar; 37(3): 301–307. Published online 2016 Jan 12. doi: 10.1002/humu.22946

PMCID:: PMC4832389

Abstract Article PDF–542K

Select item 47319258.

Timing, rates and spectra of human germline mutation

Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles

Nat Genet. Author manuscript; available in PMC 2016 Jun 14.

Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469

PMCID:: PMC4731925

Abstract Article PDF–1.6M

Select item 45447539.

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 440263710.

Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature

Merel Klaassens, Deborah Morrogh, Elisabeth M Rosser, Fatima Jaffer, Maaike Vreeburg, Levinus A Bok, Tim Segboer, Martine van Belzen, Ros M Quinlivan, Ajith Kumar, Jane A Hurst, Richard H Scott

Eur J Hum Genet. 2015 May; 23(5): 610–615. Published online 2014 Aug 13. doi: 10.1038/ejhg.2014.162

PMCID:: PMC4402637

Abstract Article PDF–591K

Select item 386858811.

Structure of the Catalytic Domain of EZH2 Reveals Conformational Plasticity in Cofactor and Substrate Binding Sites and Explains Oncogenic Mutations

Hong Wu, Hong Zeng, Aiping Dong, Fengling Li, Hao He, Guillermo Senisterra, Alma Seitova, Shili Duan, Peter J. Brown, Masoud Vedadi, Cheryl H. Arrowsmith, Matthieu Schapira

PLoS One. 2013; 8(12): e83737. Published online 2013 Dec 19. doi: 10.1371/journal.pone.0083737

PMCID:: PMC3868588

Abstract Article PDF–1.4M

Select item 328207112.

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height

Katrina Tatton-Brown, Sandra Hanks, Elise Ruark, Anna Zachariou, Silvana Del Vecchio Duarte, Emma Ramsay, Katie Snape, Anne Murray, Elizabeth R Perdeaux, Sheila Seal, Chey Loveday, Siddharth Banka, Carol Clericuzio, Frances Flinter, Alex Magee, Vivienne McConnell, Michael Patton, Wolfgang Raith, Julia Rankin, Miranda Splitt, Volker Strenger, Clare Taylor, Patricia Wheeler, I Karen Temple, Trevor Cole, The Childhood Overgrowth Collaboration, Jenny Douglas, Nazneen Rahman

Oncotarget. 2011 Dec; 2(12): 1127–1133. Published online 2011 Dec 21. doi: 10.18632/oncotarget.385

Correction in:: Oncotarget. 2018 Nov 30; 9(94): 36719.

PMCID:: PMC3282071

Abstract Article PDF–2.3M

Select item 325795613.

Mutations in EZH2 Cause Weaver Syndrome

William T. Gibson, Rebecca L. Hood, Shing Hei Zhan, Dennis E. Bulman, Anthony P. Fejes, Richard Moore, Andrew J. Mungall, Patrice Eydoux, Riyana Babul-Hirji, Jianghong An, Marco A. Marra, FORGE Canada Consortium, David Chitayat, Kym M. Boycott, David D. Weaver, Steven J.M. Jones

Am J Hum Genet. 2012 Jan 13; 90(1): 110–118. doi: 10.1016/j.ajhg.2011.11.018

PMCID:: PMC3257956

Abstract Article PDF–1.0M

Select item 291771114.

Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome

Valérie Malan, Diana Rajan, Sophie Thomas, Adam C. Shaw, Hélène Louis dit Picard, Valérie Layet, Marianne Till, Arie van Haeringen, Geert Mortier, Sheela Nampoothiri, Silvija Pušeljić, Laurence Legeai-Mallet, Nigel P. Carter, Michel Vekemans, Arnold Munnich, Raoul C. Hennekam, Laurence Colleaux, Valérie Cormier-Daire

Am J Hum Genet. 2010 Aug 13; 87(2): 189–198. doi: 10.1016/j.ajhg.2010.07.001

PMCID:: PMC2917711

Abstract Article PDF–966K

Select item 122454215.

Genotype-Phenotype Associations in Sotos Syndrome: An Analysis of 266 Individuals with NSD1 Aberrations

Katrina Tatton-Brown, Jenny Douglas, Kim Coleman, Geneviève Baujat, Trevor R. P. Cole, Soma Das, Denise Horn, Helen E. Hughes, I. Karen Temple, Francesca Faravelli, Darrel Waggoner, Seval Türkmen, Valérie Cormier-Daire, Alexandre Irrthum, Nazneen Rahman, Childhood Overgrowth Collaboration

Am J Hum Genet. 2005 Aug; 77(2): 193–204. Published online 2005 Jun 7. doi: 10.1086/432082

PMCID:: PMC1224542

Abstract Article PDF–1.2M

Select item 37861816.

NSD1 Mutations Are the Major Cause of Sotos Syndrome and Occur in Some Cases of Weaver Syndrome but Are Rare in Other Overgrowth Phenotypes

Jenny Douglas, Sandra Hanks, I. Karen Temple, Sally Davies, Alexandra Murray, Meena Upadhyaya, Susan Tomkins, Helen E. Hughes, Trevor R. P. Cole, Nazneen Rahman

Am J Hum Genet. 2003 Jan; 72(1): 132–143. Published online 2002 Dec 2. doi: 10.1086/345647

PMCID:: PMC378618

Abstract Article PDF–506K

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