William G Newman

William G Newman

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William G Newman

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Accounting for Capacity Constraints in Economic Evaluations of Precision Medicine: A Systematic Review.

Pharmacoeconomics 2019 Aug;37(8):1011-1027

Manchester Centre for Health Economics, Division of Population Health, Health Services Research and Primary Care, The University of Manchester, Oxford Road, Manchester, M13 9PL, UK.

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http://dx.doi.org/10.1007/s40273-019-00801-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6597608PMC
August 2019

A homozygous missense variant in CHRM3 associated with familial urinary bladder disease.

Clin Genet 2019 Aug 23. Epub 2019 Aug 23.

Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.

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http://dx.doi.org/10.1111/cge.13631DOI Listing
August 2019

Breast cancer pathology and stage are better predicted by risk stratification models that include mammographic density and common genetic variants.

Breast Cancer Res Treat 2019 Jul 2;176(1):141-148. Epub 2019 Apr 2.

Centre for Cancer Prevention, Wolfson Institute of Preventive Medicine, Charterhouse Square, Barts and The London, Queen Mary University of London, London, UK.

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http://dx.doi.org/10.1007/s10549-019-05210-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6548748PMC
July 2019

Disease modelling of core pre-mRNA splicing factor haploinsufficiency.

Hum Mol Genet 2019 Jul 13. Epub 2019 Jul 13.

Division of Evolution and Genomic Sciences School of Biological Sciences Faculty of Biology, Medicine and Health The University of Manchester Manchester Academic Health Science Centre Manchester, UK.

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http://dx.doi.org/10.1093/hmg/ddz169DOI Listing
July 2019

Clinical and genetic heterogeneity in Melkersson-Rosenthal Syndrome.

Eur J Med Genet 2019 Jun 11;62(6):103536. Epub 2018 Sep 11.

Manchester Centre for Genomic Medicine, Evolution and Genomic Sciences, University of Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183039
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http://dx.doi.org/10.1016/j.ejmg.2018.09.003DOI Listing
June 2019

A case-control evaluation of 143 single nucleotide polymorphisms for breast cancer risk stratification with classical factors and mammographic density.

Int J Cancer 2019 Jun 28. Epub 2019 Jun 28.

Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, United Kingdom.

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http://dx.doi.org/10.1002/ijc.32541DOI Listing
June 2019

Lrig2 and Hpse2, mutated in urofacial syndrome, pattern nerves in the urinary bladder.

Kidney Int 2019 May 8;95(5):1138-1152. Epub 2019 Mar 8.

Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, UK; Royal Manchester Children's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.

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http://dx.doi.org/10.1016/j.kint.2018.11.040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6481288PMC
May 2019

22q11.2 duplications in a UK cohort with bladder exstrophy-epispadias complex.

Am J Med Genet A 2019 Mar 9;179(3):404-409. Epub 2019 Jan 9.

Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom.

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http://doi.wiley.com/10.1002/ajmg.a.61032
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http://dx.doi.org/10.1002/ajmg.a.61032DOI Listing
March 2019

A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population.

J Hum Genet 2019 Feb 20;64(2):161-170. Epub 2018 Nov 20.

Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, M13 9WL, UK.

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http://dx.doi.org/10.1038/s10038-018-0536-6DOI Listing
February 2019

Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes.

Authors:
Nasim Mavaddat Kyriaki Michailidou Joe Dennis Michael Lush Laura Fachal Andrew Lee Jonathan P Tyrer Ting-Huei Chen Qin Wang Manjeet K Bolla Xin Yang Muriel A Adank Thomas Ahearn Kristiina Aittomäki Jamie Allen Irene L Andrulis Hoda Anton-Culver Natalia N Antonenkova Volker Arndt Kristan J Aronson Paul L Auer Päivi Auvinen Myrto Barrdahl Laura E Beane Freeman Matthias W Beckmann Sabine Behrens Javier Benitez Marina Bermisheva Leslie Bernstein Carl Blomqvist Natalia V Bogdanova Stig E Bojesen Bernardo Bonanni Anne-Lise Børresen-Dale Hiltrud Brauch Michael Bremer Hermann Brenner Adam Brentnall Ian W Brock Angela Brooks-Wilson Sara Y Brucker Thomas Brüning Barbara Burwinkel Daniele Campa Brian D Carter Jose E Castelao Stephen J Chanock Rowan Chlebowski Hans Christiansen Christine L Clarke J Margriet Collée Emilie Cordina-Duverger Sten Cornelissen Fergus J Couch Angela Cox Simon S Cross Kamila Czene Mary B Daly Peter Devilee Thilo Dörk Isabel Dos-Santos-Silva Martine Dumont Lorraine Durcan Miriam Dwek Diana M Eccles Arif B Ekici A Heather Eliassen Carolina Ellberg Christoph Engel Mikael Eriksson D Gareth Evans Peter A Fasching Jonine Figueroa Olivia Fletcher Henrik Flyger Asta Försti Lin Fritschi Marike Gabrielson Manuela Gago-Dominguez Susan M Gapstur José A García-Sáenz Mia M Gaudet Vassilios Georgoulias Graham G Giles Irina R Gilyazova Gord Glendon Mark S Goldberg David E Goldgar Anna González-Neira Grethe I Grenaker Alnæs Mervi Grip Jacek Gronwald Anne Grundy Pascal Guénel Lothar Haeberle Eric Hahnen Christopher A Haiman Niclas Håkansson Ute Hamann Susan E Hankinson Elaine F Harkness Steven N Hart Wei He Alexander Hein Jane Heyworth Peter Hillemanns Antoinette Hollestelle Maartje J Hooning Robert N Hoover John L Hopper Anthony Howell Guanmengqian Huang Keith Humphreys David J Hunter Milena Jakimovska Anna Jakubowska Wolfgang Janni Esther M John Nichola Johnson Michael E Jones Arja Jukkola-Vuorinen Audrey Jung Rudolf Kaaks Katarzyna Kaczmarek Vesa Kataja Renske Keeman Michael J Kerin Elza Khusnutdinova Johanna I Kiiski Julia A Knight Yon-Dschun Ko Veli-Matti Kosma Stella Koutros Vessela N Kristensen Ute Krüger Tabea Kühl Diether Lambrechts Loic Le Marchand Eunjung Lee Flavio Lejbkowicz Jenna Lilyquist Annika Lindblom Sara Lindström Jolanta Lissowska Wing-Yee Lo Sibylle Loibl Jirong Long Jan Lubiński Michael P Lux Robert J MacInnis Tom Maishman Enes Makalic Ivana Maleva Kostovska Arto Mannermaa Siranoush Manoukian Sara Margolin John W M Martens Maria Elena Martinez Dimitrios Mavroudis Catriona McLean Alfons Meindl Usha Menon Pooja Middha Nicola Miller Fernando Moreno Anna Marie Mulligan Claire Mulot Victor M Muñoz-Garzon Susan L Neuhausen Heli Nevanlinna Patrick Neven William G Newman Sune F Nielsen Børge G Nordestgaard Aaron Norman Kenneth Offit Janet E Olson Håkan Olsson Nick Orr V Shane Pankratz Tjoung-Won Park-Simon Jose I A Perez Clara Pérez-Barrios Paolo Peterlongo Julian Peto Mila Pinchev Dijana Plaseska-Karanfilska Eric C Polley Ross Prentice Nadege Presneau Darya Prokofyeva Kristen Purrington Katri Pylkäs Brigitte Rack Paolo Radice Rohini Rau-Murthy Gad Rennert Hedy S Rennert Valerie Rhenius Mark Robson Atocha Romero Kathryn J Ruddy Matthias Ruebner Emmanouil Saloustros Dale P Sandler Elinor J Sawyer Daniel F Schmidt Rita K Schmutzler Andreas Schneeweiss Minouk J Schoemaker Fredrick Schumacher Peter Schürmann Lukas Schwentner Christopher Scott Rodney J Scott Caroline Seynaeve Mitul Shah Mark E Sherman Martha J Shrubsole Xiao-Ou Shu Susan Slager Ann Smeets Christof Sohn Penny Soucy Melissa C Southey John J Spinelli Christa Stegmaier Jennifer Stone Anthony J Swerdlow Rulla M Tamimi William J Tapper Jack A Taylor Mary Beth Terry Kathrin Thöne Rob A E M Tollenaar Ian Tomlinson Thérèse Truong Maria Tzardi Hans-Ulrich Ulmer Michael Untch Celine M Vachon Elke M van Veen Joseph Vijai Clarice R Weinberg Camilla Wendt Alice S Whittemore Hans Wildiers Walter Willett Robert Winqvist Alicja Wolk Xiaohong R Yang Drakoulis Yannoukakos Yan Zhang Wei Zheng Argyrios Ziogas Alison M Dunning Deborah J Thompson Georgia Chenevix-Trench Jenny Chang-Claude Marjanka K Schmidt Per Hall Roger L Milne Paul D P Pharoah Antonis C Antoniou Nilanjan Chatterjee Peter Kraft Montserrat García-Closas Jacques Simard Douglas F Easton

Am J Hum Genet 2019 Jan 13;104(1):21-34. Epub 2018 Dec 13.

Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK; Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK.

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183040
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http://dx.doi.org/10.1016/j.ajhg.2018.11.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323553PMC
January 2019

A Dominantly Inherited 5' UTR Variant Causing Methylation-Associated Silencing of BRCA1 as a Cause of Breast and Ovarian Cancer.

Am J Hum Genet 2018 08;103(2):213-220

Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester M13 9PL, UK; Manchester Breast Centre, Manchester Cancer Research Centre, University of Manchester, Manchester M20 4BX, UK; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester M13 9WL, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.07.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6080768PMC
August 2018

Use of Single-Nucleotide Polymorphisms and Mammographic Density Plus Classic Risk Factors for Breast Cancer Risk Prediction.

JAMA Oncol 2018 Apr;4(4):476-482

Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, England.

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http://dx.doi.org/10.1001/jamaoncol.2017.4881DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5885189PMC
April 2018

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.

Am J Hum Genet 2018 01 21;102(1):175-187. Epub 2017 Dec 21.

Manchester Centre for Genomic Medicine, Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9WL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.11.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5778085PMC
January 2018

Marfanoid habitus is a nonspecific feature of Perrault syndrome.

Clin Dysmorphol 2017 Oct;26(4):200-204

aCenter for Human Genomics, Faculty of Medicine and Pharmacy bDepartment of Endocrinology, Diabetology and Nutrition, Avicenna Hospital, Mohammed V University cDepartment of Medical Genetics, National Institute of Health, Rabat, Morocco dDivision of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, School of Biological Sciences, University of Manchester eManchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.

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http://dx.doi.org/10.1097/MCD.0000000000000198DOI Listing
October 2017

First evidence of genotype-phenotype correlations in Gorlin syndrome.

J Med Genet 2017 08 8;54(8):530-536. Epub 2017 Jun 8.

Department of Dermatology, MAHSC, Salford Royal Foundation Trust, Salford, UK.

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http://dx.doi.org/10.1136/jmedgenet-2017-104669DOI Listing
August 2017

Severe intellectual disability in a patient with Burn-McKeown syndrome.

Clin Dysmorphol 2017 Jul;26(3):193-194

aManchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals, NHS Foundation Trust Manchester Academic Health Sciences Centre bDivision of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, UK cThe Folkhaelsan Department of Medical Genetics dChildren's Hospital, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1097/MCD.0000000000000175DOI Listing
July 2017

Validation of copy number variation analysis for next-generation sequencing diagnostics.

Eur J Hum Genet 2017 06 5;25(6):719-724. Epub 2017 Apr 5.

Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, St Mary's Hospital, Manchester, UK.

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http://dx.doi.org/10.1038/ejhg.2017.42DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5427176PMC
June 2017

Impact of a Panel of 88 Single Nucleotide Polymorphisms on the Risk of Breast Cancer in High-Risk Women: Results From Two Randomized Tamoxifen Prevention Trials.

J Clin Oncol 2017 Mar 28;35(7):743-750. Epub 2016 Dec 28.

Jack Cuzick, Adam R. Brentnall, Caroline Reuter, and Ivana Sestak, Centre for Cancer Prevention, Wolfson Institute of Preventive Medicine, Queen Mary University of London; Corrinne Segal, The Institute of Cancer Research; Corrinne Segal, Simone Detre, Elena Lopez-Knowles, and Mitchell Dowsett, Royal Marsden Hospital; Trevor J. Powles, Cancer Centre London, London; Helen Byers and William G. Newman, University of Manchester and Central Manchester Foundation Trust; and Anthony Howell, The Christie NHS Foundation Trust, Manchester, United Kingdom.

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http://ascopubs.org/doi/10.1200/JCO.2016.69.8944
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http://dx.doi.org/10.1200/JCO.2016.69.8944DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5455424PMC
March 2017

The impact of a panel of 18 SNPs on breast cancer risk in women attending a UK familial screening clinic: a case-control study.

J Med Genet 2017 02 28;54(2):111-113. Epub 2016 Oct 28.

Centre for Cancer Prevention, Wolfson Institute of Preventive Medicine, Queen Mary University of London, London, UK.

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http://dx.doi.org/10.1136/jmedgenet-2016-104125DOI Listing
February 2017

Sensitivity of BRCA1/2 testing in high-risk breast/ovarian/male breast cancer families: little contribution of comprehensive RNA/NGS panel testing.

Eur J Hum Genet 2016 11 8;24(11):1591-1597. Epub 2016 Jun 8.

Genomic Medicine, Institute of Human Development, St. Mary's Hospital, Manchester Academic Health Science Centre, Central Manchester Foundation Trust, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1038/ejhg.2016.57DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5110056PMC
November 2016

Spectrum of PEX1 and PEX6 variants in Heimler syndrome.

Eur J Hum Genet 2016 11 15;24(11):1565-1571. Epub 2016 Jun 15.

Leeds Institute of Biomedical and Clinical Sciences, St. James's University Hospital, University of Leeds, Leeds, UK.

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http://www.nature.com/doifinder/10.1038/ejhg.2016.62
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http://dx.doi.org/10.1038/ejhg.2016.62DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5026821PMC
November 2016

Non lethal Raine syndrome and differential diagnosis.

Eur J Med Genet 2016 Nov 22;59(11):577-583. Epub 2016 Sep 22.

Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohammed V Souissi, Rabat, Morocco; Département de Génétique Médicale, Institut National d'Hygiène, Rabat, Morocco.

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http://dx.doi.org/10.1016/j.ejmg.2016.09.018DOI Listing
November 2016

Severe early onset retinitis pigmentosa in a Moroccan patient with Heimler syndrome due to novel homozygous mutation of PEX1 gene.

Eur J Med Genet 2016 Oct 12;59(10):507-11. Epub 2016 Sep 12.

Centre de génomique humaine, Faculté de médecine et pharmacie, Mohammed V University in Rabat, 10100, Morocco; Département de génétique médicale, Institut National d'Hygiène, BP 769 Agdal, 10090 Rabat, Morocco.

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http://dx.doi.org/10.1016/j.ejmg.2016.09.004DOI Listing
October 2016

Maternal mosaicism for deletion clarifies recurrence risk in MPS I.

Hum Genome Var 2016 6;3:16031. Epub 2016 Oct 6.

Department of Clinical Chemistry and Laboratory Medicine, Jena University Hospital , Jena, Germany.

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http://dx.doi.org/10.1038/hgv.2016.31DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5052355PMC
October 2016

Association of a promoter polymorphism in FSHR with ovarian reserve and response to ovarian stimulation in women undergoing assisted reproductive treatment.

Reprod Biomed Online 2016 Sep 17;33(3):391-7. Epub 2016 Jun 17.

Department of Reproductive Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.rbmo.2016.06.001DOI Listing
September 2016

AMH type II receptor and AMH gene polymorphisms are not associated with ovarian reserve, response, or outcomes in ovarian stimulation.

J Assist Reprod Genet 2016 Aug 3;33(8):1085-91. Epub 2016 May 3.

Department of Reproductive Medicine, St. Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, M13 9WL, UK.

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http://dx.doi.org/10.1007/s10815-016-0711-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4974219PMC
August 2016

Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.

Ophthalmology 2016 May 9;123(5):1143-50. Epub 2016 Feb 9.

Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, United Kingdom; Institute of Human Development, University of Manchester, Manchester, United Kingdom; Manchester Royal Eye Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2016.01.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4845717PMC
May 2016

The Contribution of Whole Gene Deletions and Large Rearrangements to the Mutation Spectrum in Inherited Tumor Predisposing Syndromes.

Hum Mutat 2016 Mar 11;37(3):250-6. Epub 2016 Jan 11.

Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), University of Manchester, Manchester, M13 9WL, UK.

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http://dx.doi.org/10.1002/humu.22938DOI Listing
March 2016

Effective cascade screening through identification of a mutation in in a large family with a history of sudden death.

J Cardiol Cases 2016 Jan 1;13(1):9-13. Epub 2015 Oct 1.

Manchester Centre for Genomic Medicine, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1016/j.jccase.2015.08.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6281865PMC
January 2016

Response to: 'Mutation in MMP2 gene may result in scleroderma-like skin thickening' by Bader-Meunier et al.

Ann Rheum Dis 2016 Jan 13;75(1):e2. Epub 2015 Oct 13.

Manchester Centre for Genomic Medicine, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1136/annrheumdis-2015-208538DOI Listing
January 2016

Foramen ovale closure is a process of endothelial-to-mesenchymal transition leading to fibrosis.

PLoS One 2014 12;9(9):e107175. Epub 2014 Sep 12.

Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, The University of Manchester, Manchester, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0107175PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4162597PMC
December 2015

Deletion of 19q13 reveals clinical overlap with Dubowitz syndrome.

J Hum Genet 2015 Dec 17;60(12):781-5. Epub 2015 Sep 17.

Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Manchester, UK.

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http://dx.doi.org/10.1038/jhg.2015.111DOI Listing
December 2015

Identification of Patients With Variants in TPMT and Dose Reduction Reduces Hematologic Events During Thiopurine Treatment of Inflammatory Bowel Disease.

Gastroenterology 2015 Oct 11;149(4):907-17.e7. Epub 2015 Jun 11.

Department of Human Genetics, Donders Centre for Neuroscience, Radboud university medical center, Nijmegen, The Netherlands; Department of Psychiatry, Donders Centre for Neuroscience, Radboud university medical center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1053/j.gastro.2015.06.002DOI Listing
October 2015

SMARCE1 mutations in pediatric clear cell meningioma: case report.

J Neurosurg Pediatr 2015 Sep 26;16(3):296-300. Epub 2015 Jun 26.

Section of Neurosurgery.

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http://dx.doi.org/10.3171/2015.3.PEDS14417DOI Listing
September 2015

Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients.

Eur J Med Genet 2015 Sep 20;58(9):455-65. Epub 2015 Jul 20.

Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK; Central Manchester University Hospitals NHS Foundation Trust as part of Manchester Academic Health Science Centre (MAHSC), Manchester, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.07.003DOI Listing
September 2015

Identification of a mutation in the ubiquitin-fold modifier 1-specific peptidase 2 gene, UFSP2, in an extended South African family with Beukes hip dysplasia.

S Afr Med J 2015 Sep 21;105(7):558-63. Epub 2015 Sep 21.

Yorkshire Regional Genetics Service and School of Medicine, University of Leeds, St James's University Hospital, Leeds, UK.

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http://dx.doi.org/10.7196/SAMJnew.7917DOI Listing
September 2015

Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis.

Ann Rheum Dis 2015 Jun 17;74(6):1249-56. Epub 2014 Jan 17.

Faculty of Medical and Human Sciences, Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Manchester, UK Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Manchester, UK.

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http://dx.doi.org/10.1136/annrheumdis-2013-204309DOI Listing
June 2015

Common variants modify the age of onset for basal cell carcinomas in Gorlin syndrome.

Eur J Hum Genet 2015 May 27;23(5):708-10. Epub 2014 Aug 27.

1] Manchester Centre for Genomic Medicine, University of Manchester, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK [2] Department of Genetic Medicine, Manchester Centre for Genomic Medicine, MAHSC, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust (CMFT), Manchester, UK.

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http://dx.doi.org/10.1038/ejhg.2014.167DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4402640PMC
May 2015

Diagnostic Mutation Profiling and Validation of Non-Small-Cell Lung Cancer Small Biopsy Samples using a High Throughput Platform.

J Thorac Oncol 2015 May;10(5):784-92

*Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester and St. Mary's Hospital, Manchester, UK; †Clinical and Experimental Pharmacology Group, Cancer Research UK Manchester Institute, Manchester Cancer Research Centre, University of Manchester, Manchester, UK; ‡Illumina Inc., San Diego, CA; §Pathology, Manchester Royal Infirmary, Manchester, UK; ‖The Christie NHS Foundation Trust, Manchester, UK; and ¶Medical Oncology, Institute of Cancer Studies, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1097/JTO.0000000000000473DOI Listing
May 2015

Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2.

J Hum Genet 2015 Apr 15;60(4):199-202. Epub 2015 Jan 15.

1] Institute of Human Development, University of Manchester, Manchester, UK [2] Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.

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http://dx.doi.org/10.1038/jhg.2014.122DOI Listing
April 2015

Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis.

Neurology 2015 Jan 5;84(2):141-7. Epub 2014 Dec 5.

From the Manchester Centre for Genomic Medicine (M.J.S., W.G.N., D.G.E.) and University of Manchester Biomedical Imaging Institute (S.J.M.), Manchester Academic Health Sciences Centre, and Centre for Imaging Sciences (S.J.M.), University of Manchester, UK; Service de Dermatologie (S.B.) and Service de Genetique Medicale (B.I.), CHU Nantes, France; Institut für Klinische Chemie und Laboratoriumsdiagnostik Universitätsklinikum Jena (C.B.), Germany; Centre for Genomic Medicine (S.G.W., S.S.B., J.O., B.A., S.B.D., J.E.U., W.G.N., D.G.E.), St. Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, UK; INSERM U830 (W.R., F.B.), Laboratoire de Genetique et Biologie des Cancers, Paris, France; Department of Clinical Genetics (A.F.), Alder Hey Children's Hospital, Liverpool, UK; Department of Medical Genetics (C.F.R.), Oslo University Hospital, Norway; International Neuroscience Institute (A.S.), Hannover, Germany; Department of Cellular Pathology and Greater Manchester Neurosciences Centre (D.d.P.), Salford Royal Hospitals NHS Foundation Trust; Department of Clinical Genetics (D.H.), Oxford Radcliffe Hospitals NHS Trust, UK; and Institut Curie (F.B.), SIRIC and Departement d'Oncologie Pediatrique d'Adolescents et Jeunes Adultes, Paris, France.

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http://www.neurology.org/content/84/2/141.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000112
Publisher Site
http://dx.doi.org/10.1212/WNL.0000000000001129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4336087PMC
January 2015

Germline SMARCE1 mutations predispose to both spinal and cranial clear cell meningiomas.

J Pathol 2014 Dec 6;234(4):436-40. Epub 2014 Oct 6.

Manchester Centre for Genomic Medicine, University of Manchester, Manchester Academic Health Sciences Centre (MAHSC), UK.

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http://dx.doi.org/10.1002/path.4427DOI Listing
December 2014

A single nucleotide polymorphism of bone morphogenic protein-15 is not associated with ovarian reserve or response to ovarian stimulation.

Hum Reprod 2014 Dec 21;29(12):2832-7. Epub 2014 Oct 21.

Department of Reproductive Medicine, St. Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester M13 9WL, UK

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http://humrep.oxfordjournals.org/content/early/2014/10/21/hu
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http://humrep.oxfordjournals.org/lookup/doi/10.1093/humrep/d
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http://dx.doi.org/10.1093/humrep/deu264DOI Listing
December 2014

Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations.

J Clin Oncol 2014 Dec 17;32(36):4155-61. Epub 2014 Nov 17.

Miriam J. Smith, Simon G. Williams, Sanjeev S. Bhaskar, James O'Sullivan, Beverley Anderson, Sarah B. Daly, Jill E. Urquhart, Zaynab Bholah, William G. Newman, and D. Gareth R. Evans, Manchester Centre for Genomic Medicine, University of Manchester, Manchester Academic Health Sciences Centre, and Central Manchester University Hospitals National Health Service (NHS) Foundation Trust; Deemesh Oudit, Christie NHS Foundation Trust; Edmund Cheesman and Anna Kelsey, Central Manchester University Hospital NHS Foundation Trust, Royal Manchester Children's Hospital; Martin G. McCabe, Institute of Cancer Sciences, University of Manchester, Manchester Academic Health Science Centre, Manchester, United Kingdom; and Christian Beetz, Institut für Klinische Chemie und Laboratoriumsdiagnostik Universitätsklinikum Jena, Jena, Germany.

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http://jco.ascopubs.org/content/early/2014/11/20/JCO.2014.58
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http://jco.ascopubs.org/cgi/doi/10.1200/JCO.2014.58.2569
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http://dx.doi.org/10.1200/JCO.2014.58.2569DOI Listing
December 2014

Delivery of a clinical genomics service.

Genes (Basel) 2014 Nov 6;5(4):1001-17. Epub 2014 Nov 6.

Manchester Centre for Genomic Medicine, University of Manchester, Manchester, M13 9WL, UK.

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http://dx.doi.org/10.3390/genes5041001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4276923PMC
November 2014

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.

Am J Hum Genet 2014 Nov 6;95(5):622-32. Epub 2014 Nov 6.

Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases, University of Cologne, 50931 Cologne, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.10.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4225581PMC
November 2014

Intronic splicing mutations in PTCH1 cause Gorlin syndrome.

Fam Cancer 2014 Sep;13(3):477-80

Manchester Centre for Genomic Medicine, University of Manchester, Manchester, M13 9WL, UK.

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http://dx.doi.org/10.1007/s10689-014-9712-9DOI Listing
September 2014

Heparanase 2, mutated in urofacial syndrome, mediates peripheral neural development in Xenopus.

Hum Mol Genet 2014 Aug 1;23(16):4302-14. Epub 2014 Apr 1.

Centre for Genomic Medicine and Centre for Paediatrics and Child Health, Institute of Human Development, Faculty of Medical and Human Sciences,

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http://dx.doi.org/10.1093/hmg/ddu147DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4103677PMC
August 2014

Identification of a novel familial FGF16 mutation in metacarpal 4-5 fusion.

Clin Dysmorphol 2014 Jul;23(3):95-7

aManchester Centre for Genomic Medicine, University of Manchester bManchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust cDepartment of Surgery, University Hospital South Manchester, Wythenshawe, Manchester, UK.

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http://dx.doi.org/10.1097/MCD.0000000000000043DOI Listing
July 2014

Urofacial syndrome: a genetic and congenital disease of aberrant urinary bladder innervation.

Pediatr Nephrol 2014 Apr 9;29(4):513-8. Epub 2013 Jul 9.

Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Science Centre, University of Manchester, Michael Smith Building, Oxford Road, Manchester, M13 9PT, UK,

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http://dx.doi.org/10.1007/s00467-013-2552-2DOI Listing
April 2014

Genetics of human congenital urinary bladder disease.

Pediatr Nephrol 2014 Mar 13;29(3):353-60. Epub 2013 Apr 13.

Centre for Paediatrics Child Health, University of Manchester, Michael Smith Building, Oxford Road, Manchester, M13 9PT, UK,

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http://dx.doi.org/10.1007/s00467-013-2472-1DOI Listing
March 2014

Increased rate of phenocopies in all age groups in BRCA1/BRCA2 mutation kindred, but increased prospective breast cancer risk is confined to BRCA2 mutation carriers.

Cancer Epidemiol Biomarkers Prev 2013 Dec 27;22(12):2269-76. Epub 2013 Nov 27.

Authors' Affiliations: Department of Genetic Medicine, The University of Manchester, Manchester Academic Health Science Centre, St. Mary's Hospital; Genesis Prevention Centre, University Hospital of South Manchester Southmoor Road; Centre for Health Informatics, Institute of Population Health, The University of Manchester, Manchester; and Centre for Rare Diseases and Personalised Medicine, School of Clinical and Experimental Medicine, University of Birmingham College of Medical and Dental Sciences, and West Midlands Regional Genetics Service, Birmingham, United Kingdom.

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http://dx.doi.org/10.1158/1055-9965.EPI-13-0316-TDOI Listing
December 2013

Advantages of a subcutaneous implantable cardioverter-defibrillator in LAMP2 hypertrophic cardiomyopathy.

J Cardiovasc Electrophysiol 2013 Sep 11;24(9):1051-3. Epub 2013 Apr 11.

Manchester Heart Centre/Institute of Cardiovascular Medicine; Centre for Genetic Medicine, Institute of Human Development, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.

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http://dx.doi.org/10.1111/jce.12142DOI Listing
September 2013

FSH receptor genotype does not predict metaphase-II oocyte output or fertilization rates in ICSI patients.

Reprod Biomed Online 2013 Sep 20;27(3):305-9. Epub 2013 Jun 20.

Department of Reproductive Medicine, St. Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom.

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http://dx.doi.org/10.1016/j.rbmo.2013.06.005DOI Listing
September 2013

Are health technology assessments of pharmacogenetic tests feasible? A case study of CYP2D6 testing in the treatment of breast cancer with tamoxifen.

Per Med 2013 Aug;10(6):601-611

Liverpool Reviews & Implementation Group, University of Liverpool, Room 2.10, Whelan Building, The Quadrangle, Brownlow Hill, Liverpool, L69 3GB, UK.

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http://dx.doi.org/10.2217/pme.13.60DOI Listing
August 2013

Spontaneous ovarian hyperstimulation syndrome: case report, pathophysiological classification and diagnostic algorithm.

Eur J Obstet Gynecol Reprod Biol 2013 Jul 3;169(2):143-8. Epub 2013 Apr 3.

O&G Department, Burnley General Hospital, East Lancashire Hospitals NHS Trust, Casterton Avenue, Burnley, UK.

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http://dx.doi.org/10.1016/j.ejogrb.2013.03.004DOI Listing
July 2013

A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations.

Orphanet J Rare Dis 2013 Jun 13;8:84. Epub 2013 Jun 13.

Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1186/1750-1172-8-84DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3718741PMC
June 2013

Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas.

Nat Genet 2013 Mar 3;45(3):295-8. Epub 2013 Feb 3.

Genetic Medicine, Manchester Academic Health Sciences Centre (MAHSC), St. Mary's Hospital, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1038/ng.2552DOI Listing
March 2013

Haplotype analysis of the 185delAG BRCA1 mutation in ethnically diverse populations.

Eur J Hum Genet 2013 Feb 4;21(2):212-6. Epub 2012 Jul 4.

The Susanne Levy Gertner Oncogenetics Unit, The Danek Gertner Institute of Human Genetics, Chaim Sheba Medical Center, Tel-Hashomer, Israel.

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http://dx.doi.org/10.1038/ejhg.2012.124DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3548269PMC
February 2013

G6PC3 mutations cause non-syndromic severe congenital neutropenia.

Mol Genet Metab 2013 Feb 21;108(2):138-41. Epub 2012 Dec 21.

Genetic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre, University of Manchester, and St Mary's Hospital, Manchester, M13 9WL, UK.

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http://dx.doi.org/10.1016/j.ymgme.2012.12.001DOI Listing
February 2013

Developing national guidance on genetic testing for breast cancer predisposition: the role of economic evidence?

Genet Test Mol Biomarkers 2012 Jun 7;16(6):580-91. Epub 2012 Feb 7.

School of Health and Related Medicine, University of Sheffield, Sheffield, United Kingdom.

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http://dx.doi.org/10.1089/gtmb.2011.0236DOI Listing
June 2012

Polymorphisms of CYP19A1 and response to aromatase inhibitors in metastatic breast cancer patients.

Breast Cancer Res Treat 2012 Jun 15;133(3):1191-8. Epub 2012 Mar 15.

Department of Medical Oncology, University of Manchester and The Christie NHS Foundation Trust, Manchester, UK.

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http://dx.doi.org/10.1007/s10549-012-2010-zDOI Listing
June 2012

PCOS and peripheral AMH levels in relation to FSH receptor gene single nucleotide polymorphisms.

Gynecol Endocrinol 2012 May 20;28(5):375-7. Epub 2012 Mar 20.

Department of Reproductive Medicine, St.Mary's Hospital, Manchester, UK.

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http://dx.doi.org/10.3109/09513590.2011.633649DOI Listing
May 2012

Breast cancer pharmacogenomics: where we are going.

Pharmacogenomics 2012 Apr;13(6):629-31

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http://dx.doi.org/10.2217/pgs.12.37DOI Listing
April 2012

Pharmacogenetics of aromatase inhibitors.

Pharmacogenomics 2012 Apr;13(6):699-707

Genetic Medicine, Manchester Academic Health Sciences Centre (MAHSC), University of Manchester & Central Manchester University Hospitals NHS Foundation Trust, M13 9WL, UK.

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http://dx.doi.org/10.2217/pgs.12.28DOI Listing
April 2012

Follicle-stimulating hormone receptor gene polymorphisms are not associated with ovarian reserve markers.

Fertil Steril 2012 Mar 21;97(3):677-81. Epub 2012 Jan 21.

Department of Reproductive Medicine, St Mary's Hospital, Manchester, United Kingdom.

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http://dx.doi.org/10.1016/j.fertnstert.2011.12.040DOI Listing
March 2012

Fine-mapping CASP8 risk variants in breast cancer.

Cancer Epidemiol Biomarkers Prev 2012 Jan 4;21(1):176-81. Epub 2011 Nov 4.

Division of Genetic Epidemiology, University of Utah School of Medicine, Salt Lake City, Utah, USA.

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http://dx.doi.org/10.1158/1055-9965.EPI-11-0845DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3253962PMC
January 2012

Newly recognized recessive syndrome characterized by dysmorphic features, hypogonadotropic hypogonadism, severe microcephaly, and sensorineural hearing loss maps to 3p21.3.

Am J Med Genet A 2011 Dec 14;155A(12):2910-5. Epub 2011 Oct 14.

Genetic Medicine, Manchester Academic Health Sciences Centre (MAHSC), University of Manchester and Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.34292DOI Listing
December 2011