Publications by authors named "William G Newman"

98Publications

Modelling the developmental spliceosomal craniofacial disorder Burn-McKeown syndrome using induced pluripotent stem cells.

PLoS One 2020 31;15(7):e0233582. Epub 2020 Jul 31.

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

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0233582PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7394406PMC
September 2020

Genetic testing in the acute setting: a round table discussion.

Authors:
William G Newman

J Med Ethics 2020 Aug 14;46(8):533. Epub 2020 Jul 14.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/medethics-2020-106104DOI Listing
August 2020

Refusal of viral testing during the SARS-CoV-2 pandemic.

Clin Med (Lond) 2020 09 3;20(5):e163-e164. Epub 2020 Jul 3.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.7861/clinmed.2020-0388DOI Listing
September 2020

Ligase IV syndrome can present with microcephaly and radial ray anomalies similar to Fanconi anaemia plus fatal kidney malformations.

Eur J Med Genet 2020 Sep 12;63(9):103974. Epub 2020 Jun 12.

Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2020.103974DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7445424PMC
September 2020

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses.

Authors:
Haoyu Zhang Thomas U Ahearn Julie Lecarpentier Daniel Barnes Jonathan Beesley Guanghao Qi Xia Jiang Tracy A O'Mara Ni Zhao Manjeet K Bolla Alison M Dunning Joe Dennis Qin Wang Zumuruda Abu Ful Kristiina Aittomäki Irene L Andrulis Hoda Anton-Culver Volker Arndt Kristan J Aronson Banu K Arun Paul L Auer Jacopo Azzollini Daniel Barrowdale Heiko Becher Matthias W Beckmann Sabine Behrens Javier Benitez Marina Bermisheva Katarzyna Bialkowska Ana Blanco Carl Blomqvist Natalia V Bogdanova Stig E Bojesen Bernardo Bonanni Davide Bondavalli Ake Borg Hiltrud Brauch Hermann Brenner Ignacio Briceno Annegien Broeks Sara Y Brucker Thomas Brüning Barbara Burwinkel Saundra S Buys Helen Byers Trinidad Caldés Maria A Caligo Mariarosaria Calvello Daniele Campa Jose E Castelao Jenny Chang-Claude Stephen J Chanock Melissa Christiaens Hans Christiansen Wendy K Chung Kathleen B M Claes Christine L Clarke Sten Cornelissen Fergus J Couch Angela Cox Simon S Cross Kamila Czene Mary B Daly Peter Devilee Orland Diez Susan M Domchek Thilo Dörk Miriam Dwek Diana M Eccles Arif B Ekici D Gareth Evans Peter A Fasching Jonine Figueroa Lenka Foretova Florentia Fostira Eitan Friedman Debra Frost Manuela Gago-Dominguez Susan M Gapstur Judy Garber José A García-Sáenz Mia M Gaudet Simon A Gayther Graham G Giles Andrew K Godwin Mark S Goldberg David E Goldgar Anna González-Neira Mark H Greene Jacek Gronwald Pascal Guénel Lothar Häberle Eric Hahnen Christopher A Haiman Christopher R Hake Per Hall Ute Hamann Elaine F Harkness Bernadette A M Heemskerk-Gerritsen Peter Hillemanns Frans B L Hogervorst Bernd Holleczek Antoinette Hollestelle Maartje J Hooning Robert N Hoover John L Hopper Anthony Howell Hanna Huebner Peter J Hulick Evgeny N Imyanitov Claudine Isaacs Louise Izatt Agnes Jager Milena Jakimovska Anna Jakubowska Paul James Ramunas Janavicius Wolfgang Janni Esther M John Michael E Jones Audrey Jung Rudolf Kaaks Pooja Middha Kapoor Beth Y Karlan Renske Keeman Sofia Khan Elza Khusnutdinova Cari M Kitahara Yon-Dschun Ko Irene Konstantopoulou Linetta B Koppert Stella Koutros Vessela N Kristensen Anne-Vibeke Laenkholm Diether Lambrechts Susanna C Larsson Pierre Laurent-Puig Conxi Lazaro Emilija Lazarova Flavio Lejbkowicz Goska Leslie Fabienne Lesueur Annika Lindblom Jolanta Lissowska Wing-Yee Lo Jennifer T Loud Jan Lubinski Alicja Lukomska Robert J MacInnis Arto Mannermaa Mehdi Manoochehri Siranoush Manoukian Sara Margolin Maria Elena Martinez Laura Matricardi Lesley McGuffog Catriona McLean Noura Mebirouk Alfons Meindl Usha Menon Austin Miller Elvira Mingazheva Marco Montagna Anna Marie Mulligan Claire Mulot Taru A Muranen Katherine L Nathanson Susan L Neuhausen Heli Nevanlinna Patrick Neven William G Newman Finn C Nielsen Liene Nikitina-Zake Jesse Nodora Kenneth Offit Edith Olah Olufunmilayo I Olopade Håkan Olsson Nick Orr Laura Papi Janos Papp Tjoung-Won Park-Simon Michael T Parsons Bernard Peissel Ana Peixoto Beth Peshkin Paolo Peterlongo Julian Peto Kelly-Anne Phillips Marion Piedmonte Dijana Plaseska-Karanfilska Karolina Prajzendanc Ross Prentice Darya Prokofyeva Brigitte Rack Paolo Radice Susan J Ramus Johanna Rantala Muhammad U Rashid Gad Rennert Hedy S Rennert Harvey A Risch Atocha Romero Matti A Rookus Matthias Rübner Thomas Rüdiger Emmanouil Saloustros Sarah Sampson Dale P Sandler Elinor J Sawyer Maren T Scheuner Rita K Schmutzler Andreas Schneeweiss Minouk J Schoemaker Ben Schöttker Peter Schürmann Leigha Senter Priyanka Sharma Mark E Sherman Xiao-Ou Shu Christian F Singer Snezhana Smichkoska Penny Soucy Melissa C Southey John J Spinelli Jennifer Stone Dominique Stoppa-Lyonnet Anthony J Swerdlow Csilla I Szabo Rulla M Tamimi William J Tapper Jack A Taylor Manuel R Teixeira MaryBeth Terry Mads Thomassen Darcy L Thull Marc Tischkowitz Amanda E Toland Rob A E M Tollenaar Ian Tomlinson Diana Torres Melissa A Troester Thérèse Truong Nadine Tung Michael Untch Celine M Vachon Ans M W van den Ouweland Lizet E van der Kolk Elke M van Veen Elizabeth J vanRensburg Ana Vega Barbara Wappenschmidt Clarice R Weinberg Jeffrey N Weitzel Hans Wildiers Robert Winqvist Alicja Wolk Xiaohong R Yang Drakoulis Yannoukakos Wei Zheng Kristin K Zorn Roger L Milne Peter Kraft Jacques Simard Paul D P Pharoah Kyriaki Michailidou Antonis C Antoniou Marjanka K Schmidt Georgia Chenevix-Trench Douglas F Easton Nilanjan Chatterjee Montserrat García-Closas

Nat Genet 2020 06 18;52(6):572-581. Epub 2020 May 18.

Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health (NIH), Department of Health and Human Services, Bethesda, MD, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41588-020-0609-2DOI Listing
June 2020

Combined associations of a polygenic risk score and classical risk factors with breast cancer risk.

Authors:
Pooja Middha Kapoor Nasim Mavaddat Parichoy Pal Choudhury Amber N Wilcox Sara Lindström Sabine Behrens Kyriaki Michailidou Joe Dennis Manjeet K Bolla Qin Wang Audrey Jung Zomoroda Abu-Ful Thomas Ahearn Irene L Andrulis Hoda Anton-Culver Volker Arndt Kristan J Aronson Paul L Auer Laura E Beane Freeman Heiko Becher Matthias W Beckmann Alicia Beeghly-Fadiel Javier Benitez Leslie Bernstein Stig E Bojesen Hiltrud Brauch Hermann Brenner Thomas Brüning Qiuyin Cai Daniele Campa Federico Canzian Angel Carracedo Brian D Carter Jose E Castelao Stephen J Chanock Nilanjan Chatterjee Georgia Chenevix-Trench Christine L Clarke Fergus J Couch Angela Cox Simon S Cross Kamila Czene James Y Dai H Shelton Earp Arif B Ekici A Heather Eliassen Mikael Eriksson D Gareth Evans Peter A Fasching Jonine Figueroa Lin Fritschi Marike Gabrielson Manuela Gago-Dominguez Chi Gao Susan M Gapstur Mia M Gaudet Graham G Giles Anna González-Neira Pascal Guénel Lothar Haeberle Christopher A Haiman Niclas Håkansson Per Hall Ute Hamann Sigrid Hatse Jane Heyworth Bernd Holleczek Robert N Hoover John L Hopper Anthony Howell David J Hunter Esther M John Michael E Jones Rudolf Kaaks Renske Keeman Cari M Kitahara Yon-Dschun Ko Stella Koutros Allison W Kurian Diether Lambrechts Loic Le Marchand Eunjung Lee Flavio Lejbkowicz Martha Linet Jolanta Lissowska Ana Llaneza Robert J MacInnis Maria Elena Martinez Tabea Maurer Catriona McLean Susan L Neuhausen William G Newman Aaron Norman Katie M O'Brien Andrew F Olshan Janet E Olson Håkan Olsson Nick Orr Charles M Perou Guillermo Pita Eric C Polley Ross L Prentice Gad Rennert Hedy S Rennert Kathryn J Ruddy Dale P Sandler Christobel Saunders Minouk J Schoemaker Ben Schöttker Fredrick Schumacher Christopher Scott Rodney J Scott Xiao-Ou Shu Ann Smeets Melissa C Southey John J Spinelli Jennifer Stone Anthony J Swerdlow Rulla M Tamimi Jack A Taylor Melissa A Troester Celine M Vachon Elke M van Veen Xiaoliang Wang Clarice R Weinberg Caroline Weltens Walter Willett Stacey J Winham Alicja Wolk Xiaohong R Yang Wei Zheng Argyrios Ziogas Alison M Dunning Paul D P Pharoah Marjanka K Schmidt Peter Kraft Douglas F Easton Roger L Milne Montserrat García-Closas Jenny Chang-Claude

J Natl Cancer Inst 2020 May 2. Epub 2020 May 2.

Division of Cancer Epidemiology. German Cancer Research Center (DKFZ). Heidelberg: Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/jnci/djaa056DOI Listing
May 2020

Refractory very early-onset inflammatory bowel disease associated with cytosolic isoleucyl-tRNA synthetase deficiency: A case report.

World J Gastroenterol 2020 Apr;26(15):1841-1846

Department of Paediatric Allergy and Immunology, Royal Manchester Children's Hospital, Manchester M139WL, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3748/wjg.v26.i15.1841DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7183863PMC
April 2020

EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion-Almeida type.

Hum Mutat 2020 Aug 3;41(8):1372-1382. Epub 2020 May 3.

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.24027DOI Listing
August 2020

Classification and correlation of RYR2 missense variants in individuals with catecholaminergic polymorphic ventricular tachycardia reveals phenotypic relationships.

J Hum Genet 2020 Jun 10;65(6):531-539. Epub 2020 Mar 10.

Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, M13 9WL, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s10038-020-0738-6DOI Listing
June 2020

A network analysis to identify mediators of germline-driven differences in breast cancer prognosis.

Authors:
Maria Escala-Garcia Jean Abraham Irene L Andrulis Hoda Anton-Culver Volker Arndt Alan Ashworth Paul L Auer Päivi Auvinen Matthias W Beckmann Jonathan Beesley Sabine Behrens Javier Benitez Marina Bermisheva Carl Blomqvist William Blot Natalia V Bogdanova Stig E Bojesen Manjeet K Bolla Anne-Lise Børresen-Dale Hiltrud Brauch Hermann Brenner Sara Y Brucker Barbara Burwinkel Carlos Caldas Federico Canzian Jenny Chang-Claude Stephen J Chanock Suet-Feung Chin Christine L Clarke Fergus J Couch Angela Cox Simon S Cross Kamila Czene Mary B Daly Joe Dennis Peter Devilee Janet A Dunn Alison M Dunning Miriam Dwek Helena M Earl Diana M Eccles A Heather Eliassen Carolina Ellberg D Gareth Evans Peter A Fasching Jonine Figueroa Henrik Flyger Manuela Gago-Dominguez Susan M Gapstur Montserrat García-Closas José A García-Sáenz Mia M Gaudet Angela George Graham G Giles David E Goldgar Anna González-Neira Mervi Grip Pascal Guénel Qi Guo Christopher A Haiman Niclas Håkansson Ute Hamann Patricia A Harrington Louise Hiller Maartje J Hooning John L Hopper Anthony Howell Chiun-Sheng Huang Guanmengqian Huang David J Hunter Anna Jakubowska Esther M John Rudolf Kaaks Pooja Middha Kapoor Renske Keeman Cari M Kitahara Linetta B Koppert Peter Kraft Vessela N Kristensen Diether Lambrechts Loic Le Marchand Flavio Lejbkowicz Annika Lindblom Jan Lubiński Arto Mannermaa Mehdi Manoochehri Siranoush Manoukian Sara Margolin Maria Elena Martinez Tabea Maurer Dimitrios Mavroudis Alfons Meindl Roger L Milne Anna Marie Mulligan Susan L Neuhausen Heli Nevanlinna William G Newman Andrew F Olshan Janet E Olson Håkan Olsson Nick Orr Paolo Peterlongo Christos Petridis Ross L Prentice Nadege Presneau Kevin Punie Dhanya Ramachandran Gad Rennert Atocha Romero Mythily Sachchithananthan Emmanouil Saloustros Elinor J Sawyer Rita K Schmutzler Lukas Schwentner Christopher Scott Jacques Simard Christof Sohn Melissa C Southey Anthony J Swerdlow Rulla M Tamimi William J Tapper Manuel R Teixeira Mary Beth Terry Heather Thorne Rob A E M Tollenaar Ian Tomlinson Melissa A Troester Thérèse Truong Clare Turnbull Celine M Vachon Lizet E van der Kolk Qin Wang Robert Winqvist Alicja Wolk Xiaohong R Yang Argyrios Ziogas Paul D P Pharoah Per Hall Lodewyk F A Wessels Georgia Chenevix-Trench Gary D Bader Thilo Dörk Douglas F Easton Sander Canisius Marjanka K Schmidt

Nat Commun 2020 01 16;11(1):312. Epub 2020 Jan 16.

Division of Molecular Pathology, The Netherlands Cancer Institute - Antoni van Leeuwenhoek Hospital, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41467-019-14100-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6965101PMC
January 2020

A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families.

J Hum Genet 2020 Mar 12;65(3):305-311. Epub 2019 Dec 12.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s10038-019-0706-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7500128PMC
March 2020

The :p.Arg658* truncating variant is associated with risk of triple-negative breast cancer.

Authors:
Gisella Figlioli Massimo Bogliolo Irene Catucci Laura Caleca Sandra Viz Lasheras Roser Pujol Johanna I Kiiski Taru A Muranen Daniel R Barnes Joe Dennis Kyriaki Michailidou Manjeet K Bolla Goska Leslie Cora M Aalfs Muriel A Adank Julian Adlard Simona Agata Karen Cadoo Bjarni A Agnarsson Thomas Ahearn Kristiina Aittomäki Christine B Ambrosone Lesley Andrews Hoda Anton-Culver Natalia N Antonenkova Volker Arndt Norbert Arnold Kristan J Aronson Banu K Arun Ella Asseryanis Bernd Auber Päivi Auvinen Jacopo Azzollini Judith Balmaña Rosa B Barkardottir Daniel Barrowdale Julian Barwell Laura E Beane Freeman Charles Joly Beauparlant Matthias W Beckmann Sabine Behrens Javier Benitez Raanan Berger Marina Bermisheva Amie M Blanco Carl Blomqvist Natalia V Bogdanova Anders Bojesen Stig E Bojesen Bernardo Bonanni Ake Borg Angela F Brady Hiltrud Brauch Hermann Brenner Thomas Brüning Barbara Burwinkel Saundra S Buys Trinidad Caldés Almuth Caliebe Maria A Caligo Daniele Campa Ian G Campbell Federico Canzian Jose E Castelao Jenny Chang-Claude Stephen J Chanock Kathleen B M Claes Christine L Clarke Anita Collavoli Thomas A Conner David G Cox Cezary Cybulski Kamila Czene Mary B Daly Miguel de la Hoya Peter Devilee Orland Diez Yuan Chun Ding Gillian S Dite Nina Ditsch Susan M Domchek Cecilia M Dorfling Isabel Dos-Santos-Silva Katarzyna Durda Miriam Dwek Diana M Eccles Arif B Ekici A Heather Eliassen Carolina Ellberg Mikael Eriksson D Gareth Evans Peter A Fasching Jonine Figueroa Henrik Flyger William D Foulkes Tara M Friebel Eitan Friedman Marike Gabrielson Pragna Gaddam Manuela Gago-Dominguez Chi Gao Susan M Gapstur Judy Garber Montserrat García-Closas José A García-Sáenz Mia M Gaudet Simon A Gayther Graham G Giles Gord Glendon Andrew K Godwin Mark S Goldberg David E Goldgar Pascal Guénel Angelica M Gutierrez-Barrera Lothar Haeberle Christopher A Haiman Niclas Håkansson Per Hall Ute Hamann Patricia A Harrington Alexander Hein Jane Heyworth Peter Hillemanns Antoinette Hollestelle John L Hopper H Dean Hosgood Anthony Howell Chunling Hu Peter J Hulick David J Hunter Evgeny N Imyanitov Claudine Isaacs Milena Jakimovska Anna Jakubowska Paul James Ramunas Janavicius Wolfgang Janni Esther M John Michael E Jones Audrey Jung Rudolf Kaaks Beth Y Karlan Elza Khusnutdinova Cari M Kitahara Irene Konstantopoulou Stella Koutros Peter Kraft Diether Lambrechts Conxi Lazaro Loic Le Marchand Jenny Lester Fabienne Lesueur Jenna Lilyquist Jennifer T Loud Karen H Lu Robert N Luben Jan Lubinski Arto Mannermaa Mehdi Manoochehri Siranoush Manoukian Sara Margolin John W M Martens Tabea Maurer Dimitrios Mavroudis Noura Mebirouk Alfons Meindl Usha Menon Austin Miller Marco Montagna Katherine L Nathanson Susan L Neuhausen William G Newman Tu Nguyen-Dumont Finn Cilius Nielsen Sarah Nielsen Liene Nikitina-Zake Kenneth Offit Edith Olah Olufunmilayo I Olopade Andrew F Olshan Janet E Olson Håkan Olsson Ana Osorio Laura Ottini Bernard Peissel Ana Peixoto Julian Peto Dijana Plaseska-Karanfilska Timea Pocza Nadege Presneau Miquel Angel Pujana Kevin Punie Brigitte Rack Johanna Rantala Muhammad U Rashid Rohini Rau-Murthy Gad Rennert Flavio Lejbkowicz Valerie Rhenius Atocha Romero Matti A Rookus Eric A Ross Maria Rossing Vilius Rudaitis Matthias Ruebner Emmanouil Saloustros Kristin Sanden Marta Santamariña Maren T Scheuner Rita K Schmutzler Michael Schneider Christopher Scott Leigha Senter Mitul Shah Priyanka Sharma Xiao-Ou Shu Jacques Simard Christian F Singer Christof Sohn Penny Soucy Melissa C Southey John J Spinelli Linda Steele Dominique Stoppa-Lyonnet William J Tapper Manuel R Teixeira Mary Beth Terry Mads Thomassen Jennifer Thompson Darcy L Thull Marc Tischkowitz Rob A E M Tollenaar Diana Torres Melissa A Troester Thérèse Truong Nadine Tung Michael Untch Celine M Vachon Elizabeth J van Rensburg Elke M van Veen Ana Vega Alessandra Viel Barbara Wappenschmidt Jeffrey N Weitzel Camilla Wendt Greet Wieme Alicja Wolk Xiaohong R Yang Wei Zheng Argyrios Ziogas Kristin K Zorn Alison M Dunning Michael Lush Qin Wang Lesley McGuffog Michael T Parsons Paul D P Pharoah Florentia Fostira Amanda E Toland Irene L Andrulis Susan J Ramus Anthony J Swerdlow Mark H Greene Wendy K Chung Roger L Milne Georgia Chenevix-Trench Thilo Dörk Marjanka K Schmidt Douglas F Easton Paolo Radice Eric Hahnen Antonis C Antoniou Fergus J Couch Heli Nevanlinna Jordi Surrallés Paolo Peterlongo

NPJ Breast Cancer 2019 1;5:38. Epub 2019 Nov 1.

IFOM - the FIRC Institute for Molecular Oncology, Genome Diagnostics Program, Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41523-019-0127-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6825205PMC
November 2019

Two truncating variants in FANCC and breast cancer risk.

Authors:
Thilo Dörk Paolo Peterlongo Arto Mannermaa Manjeet K Bolla Qin Wang Joe Dennis Thomas Ahearn Irene L Andrulis Hoda Anton-Culver Volker Arndt Kristan J Aronson Annelie Augustinsson Laura E Beane Freeman Matthias W Beckmann Alicia Beeghly-Fadiel Sabine Behrens Marina Bermisheva Carl Blomqvist Natalia V Bogdanova Stig E Bojesen Hiltrud Brauch Hermann Brenner Barbara Burwinkel Federico Canzian Tsun L Chan Jenny Chang-Claude Stephen J Chanock Ji-Yeob Choi Hans Christiansen Christine L Clarke Fergus J Couch Kamila Czene Mary B Daly Isabel Dos-Santos-Silva Miriam Dwek Diana M Eccles Arif B Ekici Mikael Eriksson D Gareth Evans Peter A Fasching Jonine Figueroa Henrik Flyger Lin Fritschi Marike Gabrielson Manuela Gago-Dominguez Chi Gao Susan M Gapstur Montserrat García-Closas José A García-Sáenz Mia M Gaudet Graham G Giles Mark S Goldberg David E Goldgar Pascal Guénel Lothar Haeberle Christopher A Haiman Niclas Håkansson Per Hall Ute Hamann Mikael Hartman Jan Hauke Alexander Hein Peter Hillemanns Frans B L Hogervorst Maartje J Hooning John L Hopper Tony Howell Dezheng Huo Hidemi Ito Motoki Iwasaki Anna Jakubowska Wolfgang Janni Esther M John Audrey Jung Rudolf Kaaks Daehee Kang Pooja Middha Kapoor Elza Khusnutdinova Sung-Won Kim Cari M Kitahara Stella Koutros Peter Kraft Vessela N Kristensen Ava Kwong Diether Lambrechts Loic Le Marchand Jingmei Li Sara Lindström Martha Linet Wing-Yee Lo Jirong Long Artitaya Lophatananon Jan Lubiński Mehdi Manoochehri Siranoush Manoukian Sara Margolin Elena Martinez Keitaro Matsuo Dimitris Mavroudis Alfons Meindl Usha Menon Roger L Milne Nur Aishah Mohd Taib Kenneth Muir Anna Marie Mulligan Susan L Neuhausen Heli Nevanlinna Patrick Neven William G Newman Kenneth Offit Olufunmilayo I Olopade Andrew F Olshan Janet E Olson Håkan Olsson Sue K Park Tjoung-Won Park-Simon Julian Peto Dijana Plaseska-Karanfilska Esther Pohl-Rescigno Nadege Presneau Brigitte Rack Paolo Radice Muhammad U Rashid Gad Rennert Hedy S Rennert Atocha Romero Matthias Ruebner Emmanouil Saloustros Marjanka K Schmidt Rita K Schmutzler Michael O Schneider Minouk J Schoemaker Christopher Scott Chen-Yang Shen Xiao-Ou Shu Jacques Simard Susan Slager Snezhana Smichkoska Melissa C Southey John J Spinelli Jennifer Stone Harald Surowy Anthony J Swerdlow Rulla M Tamimi William J Tapper Soo H Teo Mary Beth Terry Amanda E Toland Rob A E M Tollenaar Diana Torres Gabriela Torres-Mejía Melissa A Troester Thérèse Truong Shoichiro Tsugane Michael Untch Celine M Vachon Ans M W van den Ouweland Elke M van Veen Joseph Vijai Camilla Wendt Alicja Wolk Jyh-Cherng Yu Wei Zheng Argyrios Ziogas Elad Ziv Alison M Dunning Paul D P Pharoah Detlev Schindler Peter Devilee Douglas F Easton

Sci Rep 2019 08 29;9(1):12524. Epub 2019 Aug 29.

Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41598-019-48804-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6715680PMC
August 2019

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

Clin Genet 2019 12 11;96(6):515-520. Epub 2019 Sep 11.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/cge.13631DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6899476PMC
December 2019

Disease modeling of core pre-mRNA splicing factor haploinsufficiency.

Hum Mol Genet 2019 11;28(22):3704-3723

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddz169DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6935387PMC
November 2019

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

Int J Cancer 2020 04 13;146(8):2122-2129. Epub 2019 Jul 13.

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ijc.32541DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7065068PMC
April 2020

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

Pharmacoeconomics 2019 08;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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

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

Kidney Int 2019 05 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.

View Article

Download full-text PDF

Source
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 03 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.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.61032
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.61032DOI Listing
March 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 01 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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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:

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

Source
http://ascopubs.org/doi/10.1200/JCO.2016.69.8944
Publisher Site
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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

Source
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:

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
http://www.neurology.org/content/84/2/141.full.pdf
Web Search
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

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:

View Article

Download full-text PDF

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

View Article

Download full-text PDF

Source
http://jco.ascopubs.org/content/early/2014/11/20/JCO.2014.58
Web Search
http://jco.ascopubs.org/cgi/doi/10.1200/JCO.2014.58.2569
Publisher Site
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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

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,

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

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,

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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