Stephen W. Hellens
Newcastle upon Tyne Hospitals NHS Foundation Trust
7 Papers
52 Citations
Stephen W. Hellens is an academic researcher from Newcastle upon Tyne Hospitals NHS Foundation Trust. The author has contributed to research in topics: Exome & Exome sequencing. The author has an hindex of 5, co-authored 7 publications.
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Papers
Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation
Jeremy F. McRae,Stephen Clayton,Tomas W Fitzgerald,Joanna Kaplanis,Elena Prigmore,Diana Rajan,Alejandro Sifrim,Stuart Aitken,Nadia Akawi,Mohsan Alvi,Kirsty Ambridge,Daniel M Barrett,Tanya Bayzetinova,Philip Jones,Wendy D Jones,Daniel A. King,Netravathi Krishnappa,Laura E Mason,Tarjinder Singh,Adrian Tivey,Munaza Ahmed,Uruj Anjum,Hayley Archer,Ruth Armstrong,Jana Awada,Meena Balasubramanian,Siddharth Banka,Diana Baralle,Angela Barnicoat,Paul Batstone,D. Baty,Christopher P. Bennett,Jonathan Berg,Birgitta Bernhard,A. Paul Bevan,Maria Bitner-Glindzicz,Edward Blair,Moira Blyth,David Bohanna,Louise Bourdon,David Bourn,Lisa Bradley,Angela F. Brady,Simon Brent,Carole Brewer,Kate Brunstrom,David J Bunyan,John Burn,Natalie Canham,Bruce Castle,Kate Chandler,Elena Chatzimichali,Deirdre Cilliers,Angus John Clarke,Susan Clasper,Jill Clayton-Smith,Virginia Clowes,Andrea Coates,Trevor Cole,Irina Colgiu,Amanda L. Collins,Morag N Collinson,Fiona Connell,Nicola S. Cooper,Helen Cox,Lara Cresswell,Gareth Cross,Yanick J. Crow,Mariella D'Alessandro,Tabib Dabir,Rosemarie Davidson,Sally J. Davies,Dylan de Vries,John Dean,Charu Deshpande,Gemma Devlin,Abhijit Dixit,Angus Dobbie,Alan Donaldson,Dian Donnai,Deirdre E. Donnelly,Carina Donnelly,Angela E. Douglas,Sofia Douzgou,Alexis Duncan,Jacqueline Eason,Sian Ellard,Ian Ellis,Frances Elmslie,Karenza Evans,Sarah Everest,Tina Fendick,Richard Fisher,Frances Flinter,Nicola Foulds,Andrew E. Fry,Alan Fryer,Carol Gardiner,Lorraine Gaunt,Neeti Ghali,Richard Gibbons,Harinder Gill,Judith A. Goodship,David Goudie,Emma Gray,Andrew Green,Philip Greene,Lynn Greenhalgh,Susan M. Gribble,Rachel Harrison,Lucy Harrison,Victoria Harrison,Rose Hawkins,Liu He,Stephen W. Hellens,Alex Henderson,Sarah Hewitt,Lucy Hildyard,Emma Hobson,Simon Holden,Muriel Holder,Susan Holder,Georgina Hollingsworth,Tessa Homfray,Mervyn Humphreys,Jane A. Hurst,Ben Hutton,Stuart Ingram,Melita Irving,Lily Islam,Andrew Jackson,Joanna Jarvis,Lucy Jenkins,Diana Johnson,Elizabeth A. Jones,Dragana Josifova,Shelagh Joss,Beckie Kaemba,Sandra Kazembe,Rosemary Kelsell,Bronwyn Kerr,Helen Kingston,Usha Kini,Esther Kinning,Gail Kirby,Claire Kirk,Emma Kivuva,Alison Kraus,Dhavendra Kumar,V.K Ajith Kumar,Katherine Lachlan,Wayne Lam,Anne Lampe,Caroline Langman,Melissa Lees,Derek Lim,Cheryl Longman,Gordon Lowther,Sally Ann Lynch,Alex Magee,Eddy Maher,Alison Male,Sahar Mansour,Karen Marks,Katherine Martin,Una Maye,Emma McCann,Vivienne McConnell,Meriel McEntagart,Ruth McGowan,Kirsten McKay,Shane McKee,Dominic J. McMullan,Susan E. McNerlan,Catherine McWilliam,Sarju G. Mehta,Kay Metcalfe,Anna Middleton,Zosia Miedzybrodzka,Emma Miles,Shehla Mohammed,Tara Montgomery,David Moore,Sian Morgan,Jenny Morton,Hood Mugalaasi,Victoria Murday,Helen Murphy,Swati Naik,Andrea H. Németh,Louise Nevitt,Ruth Newbury-Ecob,Andrew R. Norman,Rosie O'Shea,Caroline Mackie Ogilvie,Kai-Ren Ong,Soo-Mi Park,Michael Parker,Chirag N. Patel,Joan Paterson,Stewart Payne,Daniel Perrett,Julie M. Phipps,Daniela T Pilz,Martin O. Pollard,Caroline Pottinger,Joanna Poulton,Norman Pratt,Katrina Prescott,Sue Price,Abigail Pridham,Annie Procter,Hellen Purnell,Oliver Quarrell,Nicola K. Ragge,Raheleh Rahbari,Josh Randall,Julia Rankin,Lucy Raymond,Debbie Rice,Leema Robert,Eileen Roberts,Jonathan Roberts,Paul Roberts,Gillian Roberts,Alison Ross,Elisabeth Rosser,Anand Saggar,Shalaka Samant,Julian R. Sampson,R Sandford,Ajoy Sarkar,Susann Schweiger,Richard H Scott,Ingrid Scurr,Ann Selby,Anneke Seller,Cheryl Sequeira,Nora Shannon,Saba Sharif,Charles Shaw-Smith,Emma Shearing,Debbie Shears,Eamonn Sheridan,Ingrid Simonic,Roldan Singzon,Zara Skitt,Audrey Smith,Kath Smith,Sarah F. Smithson,Linda Sneddon,Miranda Splitt,Miranda Squires,Fiona Stewart,Helen Stewart,Volker Straub,Mohnish Suri,Vivienne Sutton,Ganesh J. Swaminathan,Elizabeth M. Sweeney,Kate Tatton-Brown,Cat Taylor,Rohan Taylor,Mark Tein,I. Karen Temple,Jenny Thomson,Marc Tischkowitz,Susan Tomkins,Audrey Torokwa,Becky Treacy,Claire E. Turner,Peter D. Turnpenny,Carolyn Tysoe,Anthony Vandersteen,Vinod Varghese,Pradeep C. Vasudevan,Parthiban Vijayarangakannan,Julie Vogt,Emma Wakeling,Sarah Wallwark,Jonathon Waters,Astrid Weber,Diana Wellesley,Margo Whiteford,Sara Widaa,Sarah Wilcox,Emily Wilkinson,Denise Williams,Nicola Williams,Louise C. Wilson,Geoff Woods,Christopher Wragg,Michael Wright,Laura Yates,Michael Yau,Chris Nellaker,Helen V. Firth,Caroline F. Wright,David R. FitzPatrick,Jeffrey C. Barrett,Matthew E. Hurles +300 more
TL;DR: The most significant factors influencing the diagnostic yield of de novo mutations are the sex of the affected individual, the relatedness of their parents and the age of both father and mother as discussed by the authors.
3q26.33-3q27.2 microdeletion: a new microdeletion syndrome?
Giorgia Mandrile,Anna Dubois,Jodi D. Hoffman,Vera Uliana,Emilio Di Maria,Michela Malacarne,Domenico A. Coviello,Francesca Faravelli,Simon Zwolinski,Stephen W. Hellens,Michael Wright,Francesca Forzano +11 more
TL;DR: Three unrelated patients of European descent carrying an overlapping 3q26.33-3q27.2 microdeletion may represent a novel condition caused by the haploinsufficiency of dosage sensitive genes, several of which are involved in brain development.
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Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study
Jeremy F. McRae,Stephen Clayton,Tomas W Fitzgerald,Joanna Kaplanis,Elena Prigmore,Diana Rajan,Alejandro Sifrim,Stuart Aitken,Nadia Akawi,Mohsan Alvi,Kirsty Ambridge,Daniel M Barrett,Tanya Bayzetinova,Philip Jones,Wendy D Jones,Daniel A. King,Netravathi Krishnappa,Laura E Mason,Tarjinder Singh,Adrian Tivey,M Ahmed,U Anjum,Hayley Archer,Hayley Archer,Ruth Armstrong,J Awada,Meena Balasubramanian,Siddharth Banka,Diana Baralle,Angela Barnicoat,P Batstone,D. Baty,Christopher P. Bennett,Jonathan Berg,B Bernhard,AP Bevan,Maria Bitner-Glindzicz,Edward Blair,Moira Blyth,D Bohanna,L Bourdon,David Bourn,Lisa Bradley,Angela F. Brady,Simon Brent,C Brewer,K Brunstrom,DJ Bunyan,J Burn,Natalie Canham,Bruce Castle,Kate Chandler,Eleni A. Chatzimichali,D Cilliers,Angus John Clarke,Angus John Clarke,S Clasper,Jill Clayton-Smith,Clowes,A Coates,Trevor Cole,Irina Colgiu,Amanda L. Collins,MN Collinson,Fiona Connell,Nicola S. Cooper,Helen Cox,Lara Cresswell,G Cross,Yanick J. Crow,M D'Alessandro,Tabib Dabir,Rosemarie Davidson,Simon J. Davies,Simon J. Davies,D de Vries,John Dean,C Deshpande,G Devlin,Abhijit Dixit,A Dobbie,Alan Donaldson,Dian Donnai,Deirdre E. Donnelly,C Donnelly,Angela E. Douglas,Sofia Douzgou,A Duncan,Jacqueline Eason,Sian Ellard,I Ellis,Frances Elmslie,K Evans,K Evans,S Everest,T Fendick,R Fisher,Frances Flinter,Nicola Foulds,Andrew E. Fry,Andrew E. Fry,Alan Fryer,C Gardiner,Lorraine Gaunt,Neeti Ghali,Richard Gibbons,Harinder Gill,Judith A. Goodship,David Goudie,Emma Gray,Andrew Green,Philip Greene,L Greenhalgh,Susan M. Gribble,L Harrison,Harrison,R Hawkins,Liu He,Stephen W. Hellens,Alex Henderson,Sarah Hewitt,Lucy Hildyard,Emma Hobson,Simon Holden,M Holder,Susan E. Holder,G Hollingsworth,Tessa Homfray,Mervyn Humphreys,Jane A. Hurst,Ben Hutton,S Ingram,Melita Irving,L Islam,Andrew Jackson,J Jarvis,Lucy Jenkins,Diana Johnson,Elizabeth A. Jones,Dragana Josifova,Shelagh Joss,B Kaemba,S Kazembe,Rosemary Kelsell,Bronwyn Kerr,Helen Kingston,Usha Kini,Esther Kinning,G Kirby,Claire Kirk,E Kivuva,Alison Kraus,Dhavendra Kumar,Dhavendra Kumar,Vka Kumar,Katherine Lachlan,Wayne Lam,A Lampe,Caroline Langman,Melissa Lees,D Lim,C Longman,G Lowther,Sally Ann Lynch,Alex Magee,E Maher,Alison Male,Sahar Mansour,K Marks,Katherine Martin,U Maye,Emma McCann,McConnell,Meriel M. McEntagart,Ruth McGowan,K McKay,Shane McKee,Dominic J. McMullan,Susan E. McNerlan,C McWilliam,Sarju G. Mehta,Kay Metcalfe,Anna Middleton,Z Miedzybrodzka,E Miles,Shehla Mohammed,Tara Montgomery,David Moore,Sian Morgan,Sian Morgan,Jenny Morton,Hood Mugalaasi,Hood Mugalaasi,Murday,Helen Murphy,S Naik,Andrea H. Németh,L Nevitt,Ruth Newbury-Ecob,Andrew R. Norman,R O'Shea,Caroline Mackie Ogilvie,K-R Ong,S-M Park,Michael Parker,Chirag N. Patel,Joan Paterson,S Payne,Daniel Perrett,Julie M. Phipps,DT Pilz,Martin O. Pollard,Caroline Pottinger,Joanna Poulton,N Pratt,Katrina Prescott,Susan Price,A Pridham,A Procter,A Procter,H Purnell,O. W.J. Quarrell,Nicola K. Ragge,Raheleh Rahbari,Joshua C. Randall,J Rankin,Lucy Raymond,D Rice,Leema Robert,E Roberts,J Roberts,Pendaran Roberts,Gillian Roberts,Allyson Ross,Elisabeth Rosser,Anand Saggar,S Samant,Julian R. Sampson,Julian R. Sampson,R Sandford,Ajoy Sarkar,S Schweiger,Richard H Scott,Ingrid Scurr,A Selby,Anneke Seller,C Sequeira,Nora Shannon,Saba Sharif,C Shaw-Smith,Emma Shearing,Deborah J. Shears,Eamonn Sheridan,Ingrid Simonic,R Singzon,Zara Skitt,Andrew Smith,Kath Smith,Sarah F. Smithson,Linda Sneddon,Miranda Splitt,M Squires,Fiona Stewart,H. Stewart,Straub,Mohnish Suri,Sutton,Ganesh J. Swaminathan,Elizabeth M. Sweeney,Katrina Tatton-Brown,Clare Taylor,R. Taylor,M Tein,IK Temple,J Thomson,Marc Tischkowitz,Susan Tomkins,A Torokwa,Becky Treacy,Claire L. S. Turner,Peter D. Turnpenny,C Tysoe,A Vandersteen,Varghese,Varghese,Pradeep C. Vasudevan,Parthiban Vijayarangakannan,Julie Vogt,Emma Wakeling,S Wallwark,J Waters,Astrid Weber,Diana Wellesley,Margo Whiteford,Sara Widaa,S Wilcox,E Wilkinson,Denise Williams,N Williams,Louise C. Wilson,G Woods,C Wragg,Michael Wright,Laura Yates,M Yau,Christoffer Nellåker,Helen V. Firth,Helen V. Firth,Caroline F. Wright,FitzPatrick,FitzPatrick,Jeffrey C. Barrett,Matthew E. Hurles +312 more
TL;DR: It is shown that the most significant factors influencing the diagnostic yield of de novo mutations are the sex of the affected individual, the relatedness of their parents and the age of both father and mother.
Microdeletion 1p35.2: a recognizable facial phenotype with developmental delay.
Brian T. Wilson,Brian T. Wilson,Murwan Omer,Stephen W. Hellens,Simon Zwolinski,Laura Yates,Laura Yates,Sally Ann Lynch +7 more
TL;DR: A role for the histone deacetylase HDAC1 in the facial phenotype is postulated and deletion of KPNA6 may prevent transmission of the 1p35.2 deletion from affected girls to any offspring through impaired zygotic genome activation.
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A case of mosaic trisomy 19q12-q13.2 with high BMI, macrocephaly, and speech delay: does USF2 determine size in the 19q phenotypes?
Brian T. Wilson,Rachel Newby,Kathryn Watts,Stephen W. Hellens,Simon Zwolinski,Miranda P. Splitt +5 more
TL;DR: A phenotypically similar boy with intrachromosomal insertion of material derived from proximal 19q into proximal 18p, causing mosaic trisomy 19q12–q13.2, is presented, and the role of USF2, a master transcriptional regulator of metabolic genes, in 19q phenotypes is considered.
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