PMC Links for Books (Select 5342228) - PMC

Select item 91755391.

Aortic Root Dilatation and Dilated Cardiomyopathy in an Adult with Tatton-Brown-Rahman Syndrome

Alana C. Cecchi, Amier Haidar, Isabella Marin, Callie S. Kwartler, Siddharth K. Prakash, Dianna M. Milewicz

Am J Med Genet A. Author manuscript; available in PMC 2023 Feb 1.

Published in final edited form as: Am J Med Genet A. 2022 Feb; 188(2): 628–634. Published online 2021 Oct 13. doi: 10.1002/ajmg.a.62541

PMCID:: PMC9175539

Abstract Article PDF–632K

Select item 87772052.

DNMT3A overgrowth syndrome is associated with the development of hematopoietic malignancies in children and young adults

Margaret A. Ferris, Amanda M. Smith, Sharon E. Heath, Eric J. Duncavage, Matthew Oberley, David Freyer, Robert Wynn, Sofia Douzgou, John M. Maris, Anne F. Reilly, Melinda D. Wu, Florence Choo, Roel B. Fiets, Saskia Koene, David H. Spencer, Christopher A. Miller, Marwan Shinawi, Timothy J. Ley

Blood. 2022 Jan 20; 139(3): 461–464. doi: 10.1182/blood.2021014052

PMCID:: PMC8777205

Article

Select item 83165763.

Functional and epigenetic phenotypes of humans and mice with DNMT3A Overgrowth Syndrome

Amanda M. Smith, Taylor A. LaValle, Marwan Shinawi, Sai M. Ramakrishnan, Haley J. Abel, Cheryl A. Hill, Nicole M. Kirkland, Michael P. Rettig, Nichole M. Helton, Sharon E. Heath, Francesca Ferraro, David Y. Chen, Sangeeta Adak, Clay F. Semenkovich, Diana L. Christian, Jenna R. Martin, Harrison W. Gabel, Christopher A. Miller, Timothy J. Ley

Nat Commun. 2021; 12: 4549. Published online 2021 Jul 27. doi: 10.1038/s41467-021-24800-7

PMCID:: PMC8316576

Abstract Article PDF–4.4M

Select item 74972894.

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 72352395.

Tatton-Brown-Rahman syndrome with a novel DNMT3A mutation presented severe intellectual disability and autism spectrum disorder

Takayuki Yokoi, Yumi Enomoto, Takuya Naruto, Kenji Kurosawa, Norimichi Higurashi

Hum Genome Var. 2020; 7: 15. Published online 2020 May 18. doi: 10.1038/s41439-020-0102-6

PMCID:: PMC7235239

Abstract Article PDF–511K

Select item 70807286.

Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients

Jair Tenorio, Pablo Alarcón, Pedro Arias, Irene Dapía, Sixto García-Miñaur, María Palomares Bralo, Jaume Campistol, Salvador Climent, Irene Valenzuela, Sergio Ramos, Antonio Martínez Monseny, Fermina López Grondona, Javier Botet, Mercedes Serrano, Mario Solís, Fernando Santos-Simarro, Sara Álvarez, Gisela Teixidó-Tura, Alberto Fernández Jaén, Gema Gordo, María Belén Bardón Rivera, Julián Nevado, Alicia Hernández, Juan C. Cigudosa, Víctor L. Ruiz-Pérez, Eduardo F. Tizzano, The SOGRI Consortium, Pablo Lapunzina

Eur J Hum Genet. 2020 Apr; 28(4): 469–479. Published online 2019 Nov 4. doi: 10.1038/s41431-019-0485-3

PMCID:: PMC7080728

Abstract Article PDF–972K

Select item 65209897.

Gain of function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions

Patricia Heyn, Clare V. Logan, Adeline Fluteau, Rachel C. Challis, Tatsiana Auchynnikava, Carol-Anne Martin, Joseph A. Marsh, Francesca Taglini, Fiona Kilanowski, David A. Parry, Valerie Cormier-Daire, Chin-To Fong, Kate Gibson, Vivian Hwa, Lourdes Ibáñez, Stephen P. Robertson, Giorgia Sebastiani, Juri Rappsilber, Robin C. Allshire, Martin A.M. Reijns, Andrew Dauber, Duncan Sproul, Andrew P. Jackson

Nat Genet. Author manuscript; available in PMC 2019 May 26.

Published in final edited form as: Nat Genet. 2019 Jan; 51(1): 96–105. Published online 2018 Nov 26. doi: 10.1038/s41588-018-0274-x

PMCID:: PMC6520989

Abstract Article PDF–2.4M

Select item 59646288.

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants

Katrina Tatton-Brown, Anna Zachariou, Chey Loveday, Anthony Renwick, Shazia Mahamdallie, Lise Aksglaede, Diana Baralle, Daniela Barge-Schaapveld, Moira Blyth, Mieke Bouma, Jeroen Breckpot, Beau Crabb, Tabib Dabir, Valerie Cormier-Daire, Christine Fauth, Richard Fisher, Blanca Gener, David Goudie, Tessa Homfray, Matthew Hunter, Agnete Jorgensen, Sarina G. Kant, Cathy Kirally-Borri, David Koolen, Ajith Kumar, Anatalia Labilloy, Melissa Lees, Carlo Marcelis, Catherine Mercer, Cyril Mignot, Kathryn Miller, Katherine Neas, Ruth Newbury-Ecob, Daniela T. Pilz, Renata Posmyk, Carlos Prada, Keri Ramsey, Linda M. Randolph, Angelo Selicorni, Deborah Shears, Mohnish Suri, I. Karen Temple, Peter Turnpenny, Lionel Van Maldergem, Vinod Varghese, Hermine E. Veenstra-Knol, Naomi Yachelevich, Laura Yates, Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Research Study, Deciphering Developmental Disorders (DDD) Study, Nazneen Rahman

Version 1. Wellcome Open Res. 2018; 3: 46. Published online 2018 Apr 23. doi: 10.12688/wellcomeopenres.14430.1

PMCID:: PMC5964628

Abstract Article PDF–3.1M

Select item 54203559.

Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability

Katrina Tatton-Brown, Chey Loveday, Shawn Yost, Matthew Clarke, Emma Ramsay, Anna Zachariou, Anna Elliott, Harriet Wylie, Anna Ardissone, Olaf Rittinger, Fiona Stewart, I. Karen Temple, Trevor Cole, Childhood Overgrowth Collaboration, Shazia Mahamdallie, Sheila Seal, Elise Ruark, Nazneen Rahman

Am J Hum Genet. 2017 May 4; 100(5): 725–736. Published online 2017 May 4. doi: 10.1016/j.ajhg.2017.03.010

PMCID:: PMC5420355

Abstract Article PDF–740K

Select item 497999510.

Genomic Classification and Prognosis in Acute Myeloid Leukemia

Elli Papaemmanuil, Moritz Gerstung, Lars Bullinger, Verena I. Gaidzik, Peter Paschka, Nicola D. Roberts, Nicola E. Potter, Michael Heuser, Felicitas Thol, Niccolo Bolli, Gunes Gundem, Peter Van Loo, Inigo Martincorena, Peter Ganly, Laura Mudie, Stuart McLaren, Sarah O’Meara, Keiran Raine, David R. Jones, Jon W. Teague, Adam P. Butler, Mel F. Greaves, Arnold Ganser, Konstanze Döhner, Richard F. Schlenk, Hartmut Döhner, Peter J. Campbell

N Engl J Med. Author manuscript; available in PMC 2016 Dec 9.

Published in final edited form as: N Engl J Med. 2016 Jun 9; 374(23): 2209–2221. doi: 10.1056/NEJMoa1516192

PMCID:: PMC4979995

Abstract Article PDF–1.5M

Select item 454475311.

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 430666912.

Siddhartha Jaiswal, Pierre Fontanillas, Jason Flannick, Alisa Manning, Peter V. Grauman, Brenton G. Mar, R. Coleman Lindsley, Craig H. Mermel, Noel Burtt, Alejandro Chavez, John M. Higgins, Vladislav Moltchanov, Frank C. Kuo, Michael J. Kluk, Brian Henderson, Leena Kinnunen, Heikki A. Koistinen, Claes Ladenvall, Gad Getz, Adolfo Correa, Benjamin F. Banahan, Stacey Gabriel, Sekar Kathiresan, Heather M. Stringham, Mark I. McCarthy, Michael Boehnke, Jaakko Tuomilehto, Christopher Haiman, Leif Groop, Gil Atzmon, James G. Wilson, Donna Neuberg, David Altshuler, Benjamin L. Ebert

N Engl J Med. Author manuscript; available in PMC 2015 Jun 25.

Published in final edited form as: N Engl J Med. 2014 Dec 25; 371(26): 2488–2498. Published online 2014 Nov 26. doi: 10.1056/NEJMoa1408617

PMCID:: PMC4306669

Abstract Article PDF–960K

Select item 401897613.

The R882H DNMT3A Mutation Associated with AML Dominantly Inhibits WT DNMT3A by Blocking its Ability to Form Active Tetramers

David A. Russler-Germain, David H. Spencer, Margaret A. Young, Tamara L. Lamprecht, Christopher A. Miller, Robert Fulton, Matthew R. Meyer, Petra Erdmann-Gilmore, R. Reid Townsend, Richard K. Wilson, Timothy J. Ley

Cancer Cell. Author manuscript; available in PMC 2015 Apr 14.

Published in final edited form as: Cancer Cell. 2014 Apr 14; 25(4): 442–454. Published online 2014 Mar 20. doi: 10.1016/j.ccr.2014.02.010

PMCID:: PMC4018976

Abstract Article PDF–2.8M

Select item 398165314.

Mutations in the DNA methyltransferase gene, DNMT3A, cause an overgrowth syndrome with intellectual disability

Katrina Tatton-Brown, Sheila Seal, Elise Ruark, Jenny Harmer, Emma Ramsay, Silvana del Vecchio Duarte, Anna Zachariou, Sandra Hanks, Eleanor O’Brien, Lise Aksglaede, Diana Baralle, Tabib Dabir, Blanca Gener, David Goudie, Tessa Homfray, Ajith Kumar, Daniela T Pilz, Angelo Selicorni, I Karen Temple, Lionel Van Maldergem, Naomi Yachelevich, The Childhood Overgrowth Consortium, Robert van Montfort, Nazneen Rahman

Nat Genet. Author manuscript; available in PMC 2014 Oct 1.

Published in final edited form as: Nat Genet. 2014 Apr; 46(4): 385–388. Published online 2014 Mar 9. doi: 10.1038/ng.2917

Correction in:: volume 46 on page 657

PMCID:: PMC3981653

Abstract Article PDF–695K

Select item 320181815.

DNMT3A Mutations in Acute Myeloid Leukemia

Timothy J. Ley, Li Ding, Matthew J. Walter, Michael D. McLellan, Tamara Lamprecht, David E. Larson, Cyriac Kandoth, Jacqueline E. Payton, Jack Baty, John Welch, Christopher C. Harris, Cheryl F. Lichti, R. Reid Townsend, Robert S. Fulton, David J. Dooling, Daniel C. Koboldt, Heather Schmidt, Qunyuan Zhang, John R. Osborne, Ling Lin, Michelle O’Laughlin, Joshua F. McMichael, Kim D. Delehaunty, Sean D. McGrath, Lucinda A. Fulton, Vincent J. Magrini, Tammi L. Vickery, Jasreet Hundal, Lisa L. Cook, Joshua J. Conyers, Gary W. Swift, Jerry P. Reed, Patricia A. Alldredge, Todd Wylie, Jason Walker, Joelle Kalicki, Mark A. Watson, Sharon Heath, William D. Shannon, Nobish Varghese, Rakesh Nagarajan, Peter Westervelt, Michael H. Tomasson, Daniel C. Link, Timothy A. Graubert, John F. DiPersio, Elaine R. Mardis, Richard K. Wilson

N Engl J Med. Author manuscript; available in PMC 2011 Oct 25.

Published in final edited form as: N Engl J Med. 2010 Dec 16; 363(25): 2424–2433. Published online 2010 Nov 10. doi: 10.1056/NEJMoa1005143

PMCID:: PMC3201818

Abstract Article PDF–379K

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