Publications by authors named "Anna Zachariou"

26Publications

The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients.

Authors:
Philip J Ostrowski Anna Zachariou Chey Loveday Ana Beleza-Meireles Marta Bertoli John Dean Andrew G L Douglas Ian Ellis Alison Foster John M Graham Jennifer Hague Yvonne Hilhorst-Hofstee Mariette Hoffer Diana Johnson Dragana Josifova Sarina G Kant Usha Kini Katherine Lachlan Wayne Lam Melissa Lees Sally Lynch Silvia Maitz Shane McKee Kay Metcalfe Katherine Nathanson Charlotte W Ockeloen Michael J Parker Tyler M Pierson Elisa Rahikkala Pedro A Sanchez-Lara Alice Spano Lionel Van Maldergem Trevor Cole Sofia Douzgou Katrina Tatton-Brown

Am J Med Genet C Semin Med Genet 2019 12 13;181(4):557-564. Epub 2019 Nov 13.

South West Thames Regional Genetics Service, St George's University NHS Foundation Trust, London, UK.

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December 2019

Null variants and deletions in BRWD3 cause an X-linked syndrome of mild-moderate intellectual disability, macrocephaly, and obesity: A series of 17 patients.

Authors:
Philip J Ostrowski Anna Zachariou Chey Loveday Diana Baralle Edward Blair Sofia Douzgou Michael Field Alison Foster Claire Kyle Katherine Lachlan Sahar Mansour Swati Naik Gillian Rea Sarah Smithson Yves Sznajer Elizabeth Thompson Trevor Cole Katrina Tatton-Brown

Am J Med Genet C Semin Med Genet 2019 12 12;181(4):638-643. Epub 2019 Nov 12.

South West Thames Regional Genetics Service, St George's University NHS Foundation Trust, London, UK.

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December 2019

The phenotype of Sotos syndrome in adulthood: A review of 44 individuals.

Authors:
Alison Foster Anna Zachariou Chey Loveday Tazeen Ashraf Edward Blair Jill Clayton-Smith Huw Dorkins Alan Fryer Blanca Gener David Goudie Alex Henderson Melita Irving Shelagh Joss Vaughan Keeley Nayana Lahiri Sally Ann Lynch Sahar Mansour Emma McCann Jenny Morton Nicole Motton Alexandra Murray Katie Riches Deborah Shears Zornitza Stark Elizabeth Thompson Julie Vogt Michael Wright Trevor Cole Katrina Tatton-Brown

Am J Med Genet C Semin Med Genet 2019 12 3;181(4):502-508. Epub 2019 Sep 3.

Division of Genetics and Epidemiology, Institute of Cancer Research, London, UK.

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December 2019

HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals.

Authors:
Deepika D'Cunha Burkardt Anna Zachariou Chey Loveday Clare L Allen David J Amor Anna Ardissone Siddharth Banka Alexia Bourgois Christine Coubes Cheryl Cytrynbaum Laurence Faivre Gerard Marion Rachel Horton Dieter Kotzot Guillermo Lay-Son Melissa Lees Karen Low Ho-Ming Luk Paul Mark Allyn McConkie-Rosell Marie McDonald John Pappas Christophe Phillipe Deborah Shears Brian Skotko Fiona Stewart Helen Stewart I Karen Temple Frederic T Mau-Them Ricardo A Verdugo Rosanna Weksberg Yuri A Zarate John M Graham Katrina Tatton-Brown

Am J Med Genet A 2019 10 9;179(10):2049-2055. Epub 2019 Aug 9.

Institute of Cancer Research, London, UK.

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October 2019

Identification of new Wilms tumour predisposition genes: an exome sequencing study.

Authors:
Shazia Mahamdallie Shawn Yost Emma Poyastro-Pearson Esty Holt Anna Zachariou Sheila Seal Anna Elliott Matthew Clarke Margaret Warren-Perry Sandra Hanks John Anderson Simon Bomken Trevor Cole Roula Farah Rhoikos Furtwaengler Adam Glaser Richard Grundy James Hayden Steve Lowis Frédéric Millot James Nicholson Milind Ronghe Jane Skeen Denise Williams Daniel Yeomanson Elise Ruark Nazneen Rahman

Lancet Child Adolesc Health 2019 05 16;3(5):322-331. Epub 2019 Mar 16.

Division of Genetics and Epidemiology, Institute of Cancer Research, London, UK; Cancer Genetics Unit, Royal Marsden NHS Foundation Trust, London, UK. Electronic address:

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May 2019

EED and EZH2 constitutive variants: A study to expand the Cohen-Gibson syndrome phenotype and contrast it with Weaver syndrome.

Authors:
Sara Griffiths Chey Loveday Anna Zachariou Lucy-Ann Behan Kate Chandler Trevor Cole Stefano D'Arrigo Andrea Dieckmann Alison Foster James Gibney Matthew Hunter Donatella Milani Chiara Pantaleoni Edna Roche Mark Sherlock Amanda Springer Susan M White Katrina Tatton-Brown

Am J Med Genet A 2019 04 21;179(4):588-594. Epub 2019 Feb 21.

Department of Clinical Genetics, St George's University of London, London, United Kingdom.

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April 2019

Corrigendum: Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.

Authors:
Chey Loveday Katrina Tatton-Brown Matthew Clarke Isaac Westwood Anthony Renwick Emma Ramsay Andrea Nemeth Jennifer Campbell Shelagh Joss McKinlay Gardner Anna Zachariou Anna Elliott Elise Ruark Rob van Montfort Nazneen Rahman

Hum Mol Genet 2019 05;28(9):1578

Division of Genetics and Epidemiology.

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May 2019

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

Authors:
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 Jenny Douglas Nazneen Rahman

Oncotarget 2018 11 30;9(94):36719. Epub 2018 Nov 30.

Division of Genetics & Epidemiology, Institute of Cancer Research, Sutton, UK.

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November 2018

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

Authors:
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 Val Maldergem Vinod Varghese Hermine E Veenstra-Knol Naomi Yachelevich Laura Yates Nazneen Rahman

Wellcome Open Res 2018 23;3:46. Epub 2018 Apr 23.

Division of Genetics and Epidemiology, Institute of Cancer Research, London, UK.

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April 2018

Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation.

Authors:
Shawn Yost Bas de Wolf Sandra Hanks Anna Zachariou Chiara Marcozzi Matthew Clarke Richarda de Voer Banafsheh Etemad Esther Uijttewaal Emma Ramsay Harriet Wylie Anna Elliott Susan Picton Audrey Smith Sarah Smithson Sheila Seal Elise Ruark Gunnar Houge Jonathan Pines Geert J P L Kops Nazneen Rahman

Nat Genet 2017 Jul 29;49(7):1148-1151. Epub 2017 May 29.

Division of Genetics and Epidemiology, Institute of Cancer Research, 15 Cotswold Road, London, SM2 5NG, UK.

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July 2017

Common variants upstream of MLF1 at 3q25 and within CPZ at 4p16 associated with neuroblastoma.

Authors:
Lee D McDaniel Karina L Conkrite Xiao Chang Mario Capasso Zalman Vaksman Derek A Oldridge Anna Zachariou Millicent Horn Maura Diamond Cuiping Hou Achille Iolascon Hakon Hakonarson Nazneen Rahman Marcella Devoto Sharon J Diskin

PLoS Genet 2017 May 18;13(5):e1006787. Epub 2017 May 18.

Division of Oncology, Children's Hospital of Philadelphia, Philadelphia, PA, United States of America.

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May 2017

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

Authors:
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 Shazia Mahamdallie Sheila Seal Elise Ruark Nazneen Rahman

Am J Hum Genet 2017 May;100(5):725-736

Division of Genetics and Epidemiology, Institute of Cancer Research, 15 Cotswold Road, London SM2 5NG, UK; Cancer Genetics Unit, Royal Marsden NHS Foundation Trust, London SW3 6JJ, UK. Electronic address:

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May 2017

Corrigendum: Mutations in the transcriptional repressor REST predispose to Wilms tumor.

Authors:
Shazia S Mahamdallie Sandra Hanks Kristen L Karlin Anna Zachariou Elizabeth R Perdeaux Elise Ruark Chad A Shaw Alexander Renwick Emma Ramsay Shawn Yost Anna Elliott Jillian Birch Michael Capra Juliet Gray Juliet Hale Judith Kingston Gill Levitt Thomas McLean Eamonn Sheridan Anthony Renwick Sheila Seal Charles Stiller Neil Sebire Thomas F Westbrook Nazneen Rahman

Nat Genet 2016 Apr;48(4):473

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April 2016

Mutations in the transcriptional repressor REST predispose to Wilms tumor.

Authors:
Shazia S Mahamdallie Sandra Hanks Kristen L Karlin Anna Zachariou Elizabeth R Perdeaux Elise Ruark Chad A Shaw Alexander Renwick Emma Ramsay Shawn Yost Anna Elliott Jillian Birch Michael Capra Juliet Gray Juliet Hale Judith Kingston Gill Levitt Thomas McLean Eamonn Sheridan Anthony Renwick Sheila Seal Charles Stiller Neil Sebire Thomas F Westbrook Nazneen Rahman

Nat Genet 2015 Dec 9;47(12):1471-4. Epub 2015 Nov 9.

Division of Genetics and Epidemiology, Institute of Cancer Research, London, UK.

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December 2015

Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.

Authors:
Chey Loveday Katrina Tatton-Brown Matthew Clarke Isaac Westwood Anthony Renwick Emma Ramsay Andrea Nemeth Jennifer Campbell Shelagh Joss McKinlay Gardner Anna Zachariou Anna Elliott Elise Ruark Rob van Montfort Nazneen Rahman

Hum Mol Genet 2015 09 13;24(17):4775-9. Epub 2015 May 13.

Division of Genetics and Epidemiology, Cancer Genetics Unit, Royal Marsden Hospital, London, UK,

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September 2015

Germline mutations in the PAF1 complex gene CTR9 predispose to Wilms tumour.

Authors:
Sandra Hanks Elizabeth R Perdeaux Sheila Seal Elise Ruark Shazia S Mahamdallie Anne Murray Emma Ramsay Silvana Del Vecchio Duarte Anna Zachariou Bianca de Souza Margaret Warren-Perry Anna Elliott Alan Davidson Helen Price Charles Stiller Kathy Pritchard-Jones Nazneen Rahman

Nat Commun 2014 Aug 7;5:4398. Epub 2014 Aug 7.

1] Division of Genetics and Epidemiology, Institute of Cancer Research, London SM2 5NG, UK [2] Cancer Genetics Unit, Royal Marsden Hospital NHS Foundation Trust, London SM2 5PT, UK.

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August 2014

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

Authors:
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 Robert van Montfort Nazneen Rahman

Nat Genet 2014 Apr 9;46(4):385-8. Epub 2014 Mar 9.

1] Division of Genetics and Epidemiology, Institute of Cancer Research, London, UK. [2] Cancer Genetics Unit, Royal Marsden Hospital, London, UK.

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April 2014

Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer.

Authors:
Elise Ruark Katie Snape Peter Humburg Chey Loveday Ilirjana Bajrami Rachel Brough Daniel Nava Rodrigues Anthony Renwick Sheila Seal Emma Ramsay Silvana Del Vecchio Duarte Manuel A Rivas Margaret Warren-Perry Anna Zachariou Adriana Campion-Flora Sandra Hanks Anne Murray Naser Ansari Pour Jenny Douglas Lorna Gregory Andrew Rimmer Neil M Walker Tsun-Po Yang Julian W Adlard Julian Barwell Jonathan Berg Angela F Brady Carole Brewer Glen Brice Cyril Chapman Jackie Cook Rosemarie Davidson Alan Donaldson Fiona Douglas Diana Eccles D Gareth Evans Lynn Greenhalgh Alex Henderson Louise Izatt Ajith Kumar Fiona Lalloo Zosia Miedzybrodzka Patrick J Morrison Joan Paterson Mary Porteous Mark T Rogers Susan Shanley Lisa Walker Martin Gore Richard Houlston Matthew A Brown Mark J Caufield Panagiotis Deloukas Mark I McCarthy John A Todd Clare Turnbull Jorge S Reis-Filho Alan Ashworth Antonis C Antoniou Christopher J Lord Peter Donnelly Nazneen Rahman

Nature 2013 Jan 16;493(7432):406-10. Epub 2012 Dec 16.

Division of Genetics & Epidemiology, The Institute of Cancer Research, Sutton SM2 5NG, UK.

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January 2013

A genome-wide association study identifies susceptibility loci for Wilms tumor.

Authors:
Clare Turnbull Elizabeth R Perdeaux David Pernet Arlene Naranjo Anthony Renwick Sheila Seal Rosa Maria Munoz-Xicola Sandra Hanks Ingrid Slade Anna Zachariou Margaret Warren-Perry Elise Ruark Mary Gerrard Juliet Hale Martin Hewitt Janice Kohler Sheila Lane Gill Levitt Mabrook Madi Bruce Morland Veronica Neefjes James Nicholson Susan Picton Barry Pizer Milind Ronghe Michael Stevens Heidi Traunecker Charles A Stiller Kathy Pritchard-Jones Jeffrey Dome Paul Grundy Nazneen Rahman

Nat Genet 2012 Apr 29;44(6):681-4. Epub 2012 Apr 29.

Division of Genetics & Epidemiology, Institute of Cancer Research, Sutton, UK.

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April 2012

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

Authors:
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 Karen I Temple Trevor Cole Jenny Douglas Nazneen Rahman

Oncotarget 2011 Dec;2(12):1127-33

Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, UK.

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December 2011

The Ripoptosome, a signaling platform that assembles in response to genotoxic stress and loss of IAPs.

Authors:
Tencho Tenev Katiuscia Bianchi Maurice Darding Meike Broemer Claudia Langlais Fredrik Wallberg Anna Zachariou Juanita Lopez Marion MacFarlane Kelvin Cain Pascal Meier

Mol Cell 2011 Aug 7;43(3):432-48. Epub 2011 Jul 7.

The Breakthrough Toby Robins Breast Cancer Research Centre, Institute of Cancer Research, London, UK.

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August 2011

IAPs are functionally non-equivalent and regulate effector caspases through distinct mechanisms.

Authors:
Tencho Tenev Anna Zachariou Rebecca Wilson Mark Ditzel Pascal Meier

Nat Cell Biol 2005 Jan 5;7(1):70-7. Epub 2004 Dec 5.

The Breakthrough Toby Robins Breast Cancer Research Centre, Institute of Cancer Research, Mary-Jean Mitchell Green Building, Chester Beatty Laboratories, Fulham Road, London SW3 6JB, UK.

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January 2005

IAP-antagonists exhibit non-redundant modes of action through differential DIAP1 binding.

Authors:
Anna Zachariou Tencho Tenev Lakshmi Goyal Julie Agapite Hermann Steller Pascal Meier

EMBO J 2003 Dec;22(24):6642-52

The Breakthrough Toby Robins Breast Cancer Research Centre, Institute of Cancer Research, Mary-Jean Mitchell Green Building, Chester Beatty Laboratories, Fulham Road, London SW3 6JB, UK.

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December 2003

Degradation of DIAP1 by the N-end rule pathway is essential for regulating apoptosis.

Authors:
Mark Ditzel Rebecca Wilson Tencho Tenev Anna Zachariou Angela Paul Emma Deas Pascal Meier

Nat Cell Biol 2003 May;5(5):467-73

The Breakthrough Toby Robins Breast Cancer Research Centre, Institute of Cancer Research, Mary-Jean Mitchell Green Building, Chester Beatty Laboratories, Fulham Road, London SW3 6JB, UK.

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May 2003

Jafrac2 is an IAP antagonist that promotes cell death by liberating Dronc from DIAP1.

Authors:
Tencho Tenev Anna Zachariou Rebecca Wilson Angela Paul Pascal Meier

EMBO J 2002 Oct;21(19):5118-29

The Breakthrough Toby Robins Breast Cancer Research, Institute of Cancer Research, Chester Beatty Laboratories, Fulham Road, London SW3 6JB, UK.

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October 2002

The DIAP1 RING finger mediates ubiquitination of Dronc and is indispensable for regulating apoptosis.

Authors:
Rebecca Wilson Lakshmi Goyal Mark Ditzel Anna Zachariou David A Baker Julie Agapite Hermann Steller Pascal Meier

Nat Cell Biol 2002 Jun;4(6):445-50

The Breakthrough Toby Robins Breast Cancer Research Centre, Institute of Cancer Research, Chester Beatty Laboratories, Fulham Road, London SW3 6JB, UK.

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June 2002