Elisabeth Rosser

Elisabeth Rosser

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Elisabeth Rosser

Elisabeth Rosser

Publications by authors named "Elisabeth Rosser"

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32Publications

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

Am J Med Genet B Neuropsychiatr Genet 2019 Dec 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

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

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.

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

Germline retinoblastoma: estimating risk and counselling the family.

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

Epidemiological and genetic considerations in retinoblastoma.

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

Fifteen years of genetic testing from a London developmental clinic.

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

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

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.

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

Mutations in CDK5RAP2 cause Seckel syndrome.

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

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

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

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

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

TS or not TS?

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.

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.

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

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.

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

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

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.

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