Publications by authors named "Elisabeth Rosser"

32Publications

Contribution of retrotransposition to developmental disorders.

Authors:
Eugene J Gardner Elena Prigmore Giuseppe Gallone Petr Danecek Kaitlin E Samocha Juliet Handsaker Sebastian S Gerety Holly Ironfield Patrick J Short Alejandro Sifrim Tarjinder Singh Kate E Chandler Emma Clement Katherine L Lachlan Katrina Prescott Elisabeth Rosser David R FitzPatrick Helen V Firth Matthew E Hurles

Nat Commun 2019 10 11;10(1):4630. Epub 2019 Oct 11.

Wellcome Sanger Institute, Wellcome Genome Campus, Cambridge, Hinxton, CB10 1SA, UK.

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http://dx.doi.org/10.1038/s41467-019-12520-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6789007PMC
October 2019

Improving access to genetic testing for adults with intellectual disability: A literature review and lessons from a quality improvement project in East London.

Authors:
Katherine Adlington James Smith Jason Crabtree Soe Win Jade Rennie Kuresh Khodatars Elisabeth Rosser Ian Hall

Am J Med Genet B Neuropsychiatr Genet 2019 12 11;180(8):566-575. Epub 2019 May 11.

East London Foundation Trust, Tower Hamlets Community Learning Disability Service, Mile End Hospital, London, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.b.32732DOI Listing
December 2019

ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy.

Authors:
Mark T Handley Kaalak Reddy Jimi Wills Elisabeth Rosser Archith Kamath Mihail Halachev Gavin Falkous Denise Williams Phillip Cox Alison Meynert Eleanor S Raymond Harris Morrison Stephen Brown Emma Allan Irene Aligianis Andrew P Jackson Bernard H Ramsahoye Alex von Kriegsheim Robert W Taylor Andrew J Finch David R FitzPatrick

PLoS Genet 2019 03 11;15(3):e1007605. Epub 2019 Mar 11.

MRC Human Genetics Unit, Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.

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http://dx.doi.org/10.1371/journal.pgen.1007605DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6428344PMC
March 2019

Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17.

Authors:
Suran Nethisinghe Wei N Lim Heather Ging Anna Zeitlberger Rosella Abeti Sally Pemble Mary G Sweeney Robyn Labrum Charisse Cervera Henry Houlden Elisabeth Rosser Patricia Limousin Angus Kennedy Michael P Lunn Kailash P Bhatia Nicholas W Wood John Hardy James M Polke Liana Veneziano Alfredo Brusco Mary B Davis Paola Giunti

Front Cell Neurosci 2018 23;12:429. Epub 2018 Nov 23.

Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, United Kingdom.

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http://dx.doi.org/10.3389/fncel.2018.00429DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6265347PMC
November 2018

Epidemiological and genetic considerations in retinoblastoma.

Authors:
Ido Didi Fabian Elisabeth Rosser Mandeep S Sagoo

Community Eye Health 2018 ;31(101):29-30

Retinoblastoma Service: Royal London Hospital; Ocular Oncology Service NIHR Biomedical Research Centre for Ophthalmology, Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5998388PMC
January 2018

Germline retinoblastoma: estimating risk and counselling the family.

Authors:
Elisabeth Rosser Mandeep S Sagoo

Community Eye Health 2018 ;31(101):8-9

Retinoblastoma Service: Royal London Hospital; Ocular Oncology Service NIHR Biomedical Research Centre for Ophthalmology, Moorfields Eye Hospital and UCL Institute of Ophthalmology, London UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5998395PMC
January 2018

A case of exudative vitreoretinopathy and chorioretinal coloboma associated with microcephaly in a female with contiguous Xp11.3-11.4 deletion.

Authors:
Anne-Marie Hinds Elisabeth Rosser M Ashwin Reddy

Ophthalmic Genet 2018 06 4;39(3):396-398. Epub 2018 Apr 4.

a Ophthalmology Department , The Royal London Hospital, Barts Health NHS Trust , London , UK.

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http://dx.doi.org/10.1080/13816810.2018.1443342DOI Listing
June 2018

Clinical and genetic characterization of AP4B1-associated SPG47.

Authors:
Darius Ebrahimi-Fakhari Chi Cheng Kira Dies Amelia Diplock Danielle B Pier Conor S Ryan Brendan C Lanpher Jennifer Hirst Wendy K Chung Mustafa Sahin Elisabeth Rosser Basil Darras James T Bennett

Am J Med Genet A 2018 02 28;176(2):311-318. Epub 2017 Nov 28.

Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, and Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.a.38561DOI Listing
February 2018

22 Years of predictive testing for Huntington's disease: the experience of the UK Huntington's Prediction Consortium.

Authors:
Sheharyar S Baig Mark Strong Elisabeth Rosser Nicola V Taverner Ruth Glew Zosia Miedzybrodzka Angus Clarke David Craufurd

Eur J Hum Genet 2017 11;25(11):1290

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http://dx.doi.org/10.1038/ejhg.2017.139DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5643973PMC
November 2017

Fifteen years of genetic testing from a London developmental clinic.

Authors:
Sunayna Best Elisabeth Rosser Monika Bajaj

Arch Dis Child 2017 11 28;102(11):1014-1018. Epub 2017 Jun 28.

Community Paediatrics, Wellington Way Centre, Barts Health NHS Trust, London, UK.

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http://dx.doi.org/10.1136/archdischild-2017-312739DOI Listing
November 2017

Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.

Authors:
Alistair T Pagnamenta Yoshiko Murakami John M Taylor Consuelo Anzilotti Malcolm F Howard Venessa Miller Diana S Johnson Shereen Tadros Sahar Mansour I Karen Temple Rachel Firth Elisabeth Rosser Rachel E Harrison Bronwen Kerr Niko Popitsch Taroh Kinoshita Jenny C Taylor Usha Kini

Eur J Hum Genet 2017 06 22;25(6):669-679. Epub 2017 Mar 22.

Department of Clinical Genetics, Oxford University Hospitals NHS Trust, Oxford, UK.

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http://dx.doi.org/10.1038/ejhg.2017.32DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5477361PMC
June 2017

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

Authors:
Keren J Carss Gavin Arno Marie Erwood Jonathan Stephens Alba Sanchis-Juan Sarah Hull Karyn Megy Detelina Grozeva Eleanor Dewhurst Samantha Malka Vincent Plagnol Christopher Penkett Kathleen Stirrups Roberta Rizzo Genevieve Wright Dragana Josifova Maria Bitner-Glindzicz Richard H Scott Emma Clement Louise Allen Ruth Armstrong Angela F Brady Jenny Carmichael Manali Chitre Robert H H Henderson Jane Hurst Robert E MacLaren Elaine Murphy Joan Paterson Elisabeth Rosser Dorothy A Thompson Emma Wakeling Willem H Ouwehand Michel Michaelides Anthony T Moore Andrew R Webster F Lucy Raymond

Am J Hum Genet 2017 01 29;100(1):75-90. Epub 2016 Dec 29.

NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 0XY, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.12.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5223092PMC
January 2017

22 Years of predictive testing for Huntington's disease: the experience of the UK Huntington's Prediction Consortium.

Authors:
Sheharyar S Baig Mark Strong Elisabeth Rosser Nicola V Taverner Ruth Glew Zosia Miedzybrodzka Angus Clarke David Craufurd Uk Huntington's Disease Prediction Consortium Oliver W Quarrell

Eur J Hum Genet 2016 10;24(10):1515

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http://dx.doi.org/10.1038/ejhg.2016.81DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5027694PMC
October 2016

22 Years of predictive testing for Huntington's disease: the experience of the UK Huntington's Prediction Consortium.

Authors:
Sheharyar S Baig Mark Strong Elisabeth Rosser Nicola V Taverner Ruth Glew Zosia Miedzybrodzka Angus Clarke David Craufurd Oliver W Quarrell

Eur J Hum Genet 2016 10 11;24(10):1396-402. Epub 2016 May 11.

Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, UK.

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http://dx.doi.org/10.1038/ejhg.2016.36DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5027682PMC
October 2016

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.

Authors:
Nadia Akawi Jeremy McRae Morad Ansari Meena Balasubramanian Moira Blyth Angela F Brady Stephen Clayton Trevor Cole Charu Deshpande Tomas W Fitzgerald Nicola Foulds Richard Francis George Gabriel Sebastian S Gerety Judith Goodship Emma Hobson Wendy D Jones Shelagh Joss Daniel King Nikolai Klena Ajith Kumar Melissa Lees Chris Lelliott Jenny Lord Dominic McMullan Mary O'Regan Deborah Osio Virginia Piombo Elena Prigmore Diana Rajan Elisabeth Rosser Alejandro Sifrim Audrey Smith Ganesh J Swaminathan Peter Turnpenny James Whitworth Caroline F Wright Helen V Firth Jeffrey C Barrett Cecilia W Lo David R FitzPatrick Matthew E Hurles

Nat Genet 2015 Nov 5;47(11):1363-9. Epub 2015 Oct 5.

Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.

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http://www.nature.com/articles/ng.3410
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http://dx.doi.org/10.1038/ng.3410DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5988033PMC
November 2015

Mutations in CDK5RAP2 cause Seckel syndrome.

Authors:
Gökhan Yigit Karen E Brown Hülya Kayserili Esther Pohl Almuth Caliebe Diana Zahnleiter Elisabeth Rosser Nina Bögershausen Zehra Oya Uyguner Umut Altunoglu Gudrun Nürnberg Peter Nürnberg Anita Rauch Yun Li Christian Thomas Thiel Bernd Wollnik

Mol Genet Genomic Med 2015 Sep 24;3(5):467-80. Epub 2015 May 24.

Institute of Human Genetics, University of Cologne Cologne, Germany ; Center for Molecular Medicine Cologne (CMMC), University of Cologne Cologne, Germany ; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne Cologne, Germany.

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http://dx.doi.org/10.1002/mgg3.158DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4585455PMC
September 2015

The use of whole-exome sequencing to disentangle complex phenotypes.

Authors:
Hywel J Williams John R Hurst Louise Ocaka Chela James Caroline Pao Estelle Chanudet Francesco Lescai Horia C Stanescu Robert Kleta Elisabeth Rosser Chiara Bacchelli Philip Beales

Eur J Hum Genet 2016 Feb 10;24(2):298-301. Epub 2015 Jun 10.

Centre for Translational Omics - GOSgene, UCL Institute of Child Health, University College London, London, UK.

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http://dx.doi.org/10.1038/ejhg.2015.121DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4717198PMC
February 2016

Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1.

Authors:
Lemuel Racacho Ashley M Byrnes Heather MacDonald Helen J Dranse Sarah M Nikkel Judith Allanson Elisabeth Rosser T Michael Underhill Dennis E Bulman

Eur J Hum Genet 2015 Dec 11;23(12):1640-5. Epub 2015 Mar 11.

Faculty of Medicine, Department of Biochemistry, Microbiology and Immunology, University of Ottawa, Ottawa, ON, Canada.

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http://dx.doi.org/10.1038/ejhg.2015.38DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795202PMC
December 2015

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.

Authors:
Morad Ansari Gemma Poke Quentin Ferry Kathleen Williamson Roland Aldridge Alison M Meynert Hemant Bengani Cheng Yee Chan Hülya Kayserili Sahin Avci Raoul C M Hennekam Anne K Lampe Egbert Redeker Tessa Homfray Alison Ross Marie Falkenberg Smeland Sahar Mansour Michael J Parker Jacqueline A Cook Miranda Splitt Richard B Fisher Alan Fryer Alex C Magee Andrew Wilkie Angela Barnicoat Angela F Brady Nicola S Cooper Catherine Mercer Charu Deshpande Christopher P Bennett Daniela T Pilz Deborah Ruddy Deirdre Cilliers Diana S Johnson Dragana Josifova Elisabeth Rosser Elizabeth M Thompson Emma Wakeling Esther Kinning Fiona Stewart Frances Flinter Katta M Girisha Helen Cox Helen V Firth Helen Kingston Jamie S Wee Jane A Hurst Jill Clayton-Smith John Tolmie Julie Vogt Katrina Tatton-Brown Kate Chandler Katrina Prescott Louise Wilson Mahdiyeh Behnam Meriel McEntagart Rosemarie Davidson Sally-Ann Lynch Sanjay Sisodiya Sarju G Mehta Shane A McKee Shehla Mohammed Simon Holden Soo-Mi Park Susan E Holder Victoria Harrison Vivienne McConnell Wayne K Lam Andrew J Green Dian Donnai Maria Bitner-Glindzicz Deirdre E Donnelly Christoffer Nellåker Martin S Taylor David R FitzPatrick

J Med Genet 2014 Oct 14;51(10):659-68. Epub 2014 Aug 14.

MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.

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http://dx.doi.org/10.1136/jmedgenet-2014-102573DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4173748PMC
October 2014

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

Authors:
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 13;23(5):610-5. Epub 2014 Aug 13.

1] North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Trust, London, UK [2] Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK.

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http://dx.doi.org/10.1038/ejhg.2014.162DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4402637PMC
May 2015

Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.

Authors:
Alexandros Onoufriadis Amelia Shoemark Mustafa M Munye Chela T James Miriam Schmidts Mitali Patel Elisabeth M Rosser Chiara Bacchelli Philip L Beales Peter J Scambler Stephen L Hart Jeannette E Danke-Roelse John J Sloper Sarah Hull Claire Hogg Richard D Emes Gerard Pals Anthony T Moore Eddie M K Chung Hannah M Mitchison

J Med Genet 2014 Jan 7;51(1):61-7. Epub 2013 Nov 7.

Molecular Medicine Unit, Birth Defects Research Centre, Institute of Child Health, University College London, London, UK.

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https://spiral.imperial.ac.uk/bitstream/10044/1/12945/2/Comb
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http://jmg.bmj.com/cgi/doi/10.1136/jmedgenet-2013-101938
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http://dx.doi.org/10.1136/jmedgenet-2013-101938DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3888613PMC
January 2014

TS or not TS?

Authors:
Cyriac Athappily Rickie Patani Sanjiv Chawda Elisabeth Rosser Rajith de Silva

Pract Neurol 2013 Aug 13;13(4):268-70. Epub 2013 Mar 13.

Department of Neurology, Essex Centre for Neurological Sciences, Queen's Hospital, Romford, Essex, UK.

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http://dx.doi.org/10.1136/practneurol-2012-000371DOI Listing
August 2013

Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14.

Authors:
Hilde Van Esch Elisabeth M Rosser Sandra Janssens Ingrid Van Ingelghem Bart Loeys Bjorn Menten

J Med Genet 2010 Oct 3;47(10):717-20. Epub 2010 Aug 3.

Centre for Human Genetics, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium.

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http://jmg.bmj.com/cgi/doi/10.1136/jmg.2010.077586
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http://dx.doi.org/10.1136/jmg.2010.077586DOI Listing
October 2010

Cutaneous features associated with microcephalic osteodysplastic primordial dwarfism type II.

Authors:
Naomi Webber Edel A O'Toole David G Paige Elisabeth Rosser

Pediatr Dermatol 2008 May-Jun;25(3):401-2

Department of Dermatology, Barts and the London NHS Trust, London, UK.

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http://dx.doi.org/10.1111/j.1525-1470.2008.00698.xDOI Listing
August 2008

A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes.

Authors:
Tuula Rinne Suzanne E Clements Evert Lamme Pascal H G Duijf Emine Bolat Rowdy Meijer Hans Scheffer Elisabeth Rosser Tiong Yang Tan John A McGrath Joost Schalkwijk Han G Brunner Huiqing Zhou Hans van Bokhoven

Hum Mol Genet 2008 Jul 25;17(13):1968-77. Epub 2008 Mar 25.

Department of Human Genetics, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands.

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http://hmg.oxfordjournals.org/content/17/13/1968.full.pdf
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddn094
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http://dx.doi.org/10.1093/hmg/ddn094DOI Listing
July 2008

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

Authors:
Gillian Rice Teresa Patrick Rekha Parmar Claire F Taylor Alec Aeby Jean Aicardi Rafael Artuch Simon Attard Montalto Carlos A Bacino Bruno Barroso Peter Baxter Willam S Benko Carsten Bergmann Enrico Bertini Roberta Biancheri Edward M Blair Nenad Blau David T Bonthron Tracy Briggs Louise A Brueton Han G Brunner Christopher J Burke Ian M Carr Daniel R Carvalho Kate E Chandler Hans-Jurgen Christen Peter C Corry Frances M Cowan Helen Cox Stefano D'Arrigo John Dean Corinne De Laet Claudine De Praeter Catherine Dery Colin D Ferrie Kim Flintoff Suzanna G M Frints Angels Garcia-Cazorla Blanca Gener Cyril Goizet Francoise Goutieres Andrew J Green Agnes Guet Ben C J Hamel Bruce E Hayward Arvid Heiberg Raoul C Hennekam Marie Husson Andrew P Jackson Rasieka Jayatunga Yong-Hui Jiang Sarina G Kant Amy Kao Mary D King Helen M Kingston Joerg Klepper Marjo S van der Knaap Andrew J Kornberg Dieter Kotzot Wilfried Kratzer Didier Lacombe Lieven Lagae Pierre Georges Landrieu Giovanni Lanzi Andrea Leitch Ming J Lim John H Livingston Charles M Lourenco E G Hermione Lyall Sally A Lynch Michael J Lyons Daphna Marom John P McClure Robert McWilliam Serge B Melancon Leena D Mewasingh Marie-Laure Moutard Ken K Nischal John R Ostergaard Julie Prendiville Magnhild Rasmussen R Curtis Rogers Dominique Roland Elisabeth M Rosser Kevin Rostasy Agathe Roubertie Amparo Sanchis Raphael Schiffmann Sabine Scholl-Burgi Sunita Seal Stavit A Shalev C Sierra Corcoles Gyan P Sinha Doriette Soler Ronen Spiegel John B P Stephenson Uta Tacke Tiong Yang Tan Marianne Till John L Tolmie Pam Tomlin Federica Vagnarelli Enza Maria Valente Rudy N A Van Coster Nathalie Van der Aa Adeline Vanderver Johannes S H Vles Thomas Voit Evangeline Wassmer Bernhard Weschke Margo L Whiteford Michel A A Willemsen Andreas Zankl Sameer M Zuberi Simona Orcesi Elisa Fazzi Pierre Lebon Yanick J Crow

Am J Hum Genet 2007 Oct 4;81(4):713-25. Epub 2007 Sep 4.

Leeds Institute of Molecular Medicine, St James's University Hospital, Leeds, LS9 7TF, UK.

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http://dx.doi.org/10.1086/521373DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2227922PMC
October 2007

Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination.

Authors:
Nicole I Wolf Maria Cundall Paul Rutland Elisabeth Rosser Robert Surtees Sarah Benton Wui K Chong Sue Malcolm Friedrich Ebinger Maria Bitner-Glindzicz Karen J Woodward

Neurogenetics 2007 Jan 13;8(1):39-44. Epub 2006 Sep 13.

Clinical and Molecular Genetics Unit, Institute of Child Health, London, UK.

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http://dx.doi.org/10.1007/s10048-006-0062-0DOI Listing
January 2007

Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome.

Authors:
Irene A Aligianis Neil V Morgan Marina Mione Colin A Johnson Elisabeth Rosser Raoul C Hennekam Gill Adams Richard C Trembath Daniela T Pilz Neil Stoodley Anthony T Moore Steve Wilson Eamonn R Maher

Am J Hum Genet 2006 Apr 14;78(4):702-7. Epub 2006 Feb 14.

Section of Medical and Molecular Genetics, University of Birmingham, Birmingham, United Kingdom.

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http://linkinghub.elsevier.com/retrieve/pii/S000292970763707
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http://dx.doi.org/10.1086/502681DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1424696PMC
April 2006

Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation.

Authors:
David A Koolen William Reardon Elisabeth M Rosser Didier Lacombe Jane A Hurst Caroline J Law Ernie M H F Bongers Conny M van Ravenswaaij-Arts Martijn A R Leisink Ad Geurts van Kessel Joris A Veltman Bert B A de Vries

Eur J Hum Genet 2005 Sep;13(9):1019-24

1Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/sj.ejhg.5201456DOI Listing
September 2005

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.

Authors:
Irene A Aligianis Colin A Johnson Paul Gissen Dongrong Chen Daniel Hampshire Katrin Hoffmann Esther N Maina Neil V Morgan Louise Tee Jenny Morton John R Ainsworth Denise Horn Elisabeth Rosser Trevor R P Cole Irene Stolte-Dijkstra Karen Fieggen Jill Clayton-Smith André Mégarbané Julian P Shield Ruth Newbury-Ecob William B Dobyns John M Graham Klaus W Kjaer Mette Warburg Jacqueline Bond Richard C Trembath Laura W Harris Yoshimi Takai Stefan Mundlos David Tannahill C Geoffery Woods Eamonn R Maher

Nat Genet 2005 Mar;37(3):221-3

Section of Medical and Molecular Genetics, University of Birmingham, Birmingham, B15 2TT, UK.

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http://dx.doi.org/10.1038/ng1517DOI Listing
March 2005

Inherited cancer in children: practical/ethical problems and challenges.

Authors:
Marc Tischkowitz Elisabeth Rosser

Eur J Cancer 2004 Nov;40(16):2459-70

North East Thames Regional Genetics Service, Clinical and Molecular Genetics Unit, Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.

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http://dx.doi.org/10.1016/j.ejca.2004.06.005DOI Listing
November 2004

Medulloblastoma as a first presentation of fanconi anemia.

Authors:
Marc D Tischkowitz Julia Chisholm Mark Gaze Antony Michalski Elisabeth M Rosser

J Pediatr Hematol Oncol 2004 Jan;26(1):52-5

Clinical Genetics Unit, Institute of Child Health, Great Ormond Street Hospital, London, United Kingdom.

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http://dx.doi.org/10.1097/00043426-200401000-00016DOI Listing
January 2004