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Research | | Open
Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations
- Dale Bryant
- , Marian Seda
- , Emma Peskett
- , Constance Maurer
- , Gideon Pomeranz
- , Marcus Ghosh
- , Thomas A. Hawkins
- , James Cleak
- , Sanchari Datta
- , Hanaa Hariri
- , Kaitlyn M. Eckert
- , Daniyal J. Jafree
- , Claire Walsh
- , Charalambos Demetriou
- , Miho Ishida
- , Cristina Alemán-Charlet
- , Letizia Vestito
- , Rimante Seselgyte
- , Jeffrey G. McDonald
- , Maria Bitner-Glindzicz
- , Myriam Hemberger
- , Jason Rihel
- , Lydia Teboul
- , W. Mike Henne
- , Dagan Jenkins
- , Gudrun E. Moore
- & Philip Stanier
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Research | | Open
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Research |
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| Open
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News and Views | | Open
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Research |
A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene
- Maria Bitner-Glindzicz
- , Keith J. Lindley
- , Paul Rutland
- , Diana Blaydon
- , Virpi V. Smith
- , Peter J. Milla
- , Khalid Hussain
- , Judith Furth-Lavi
- , Karen E. Cosgrove
- , Ruth M. Shepherd
- , Philippa D. Barnes
- , Rachel E. O'Brien
- , Peter A. Farndon
- , Jane Sowden
- , Xue-Zhong Liu
- , Matthew J. Scanlan
- , Sue Malcolm
- , Mark J. Dunne
- , Albert Aynsley-Green
- & Benjamin Glaser
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Amendments and Corrections | | Open
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
- Lot Snijders Blok
- , Justine Rousseau
- , Joanna Twist
- , Sophie Ehresmann
- , Motoki Takaku
- , Hanka Venselaar
- , Lance H. Rodan
- , Catherine B. Nowak
- , Jessica Douglas
- , Kathryn J. Swoboda
- , Marcie A. Steeves
- , Inderneel Sahai
- , Connie T. R. M. Stumpel
- , Alexander P. A. Stegmann
- , Patricia Wheeler
- , Marcia Willing
- , Elise Fiala
- , Aaina Kochhar
- , William T. Gibson
- , Ana S. A. Cohen
- , Ruky Agbahovbe
- , A. Micheil Innes
- , P. Y. Billie Au
- , Julia Rankin
- , Ilse J. Anderson
- , Steven A. Skinner
- , Raymond J. Louie
- , Hannah E. Warren
- , Alexandra Afenjar
- , Boris Keren
- , Caroline Nava
- , Julien Buratti
- , Arnaud Isapof
- , Diana Rodriguez
- , Raymond Lewandowski
- , Jennifer Propst
- , Ton van Essen
- , Murim Choi
- , Sangmoon Lee
- , Jong H. Chae
- , Susan Price
- , Rhonda E. Schnur
- , Ganka Douglas
- , Ingrid M. Wentzensen
- , Christiane Zweier
- , André Reis
- , Martin G. Bialer
- , Christine Moore
- , Marije Koopmans
- , Eva H. Brilstra
- , Glen R. Monroe
- , Koen L. I. van Gassen
- , Ellen van Binsbergen
- , Ruth Newbury-Ecob
- , Lucy Bownass
- , Ingrid Bader
- , Johannes A. Mayr
- , Saskia B. Wortmann
- , Kathy J. Jakielski
- , Edythe A. Strand
- , Katja Kloth
- , Tatjana Bierhals
- , 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 King
- , Netravathi Krishnappa
- , Laura E. Mason
- , Tarjinder Singh
- , Adrian R. Tivey
- , Munaza Ahmed
- , Uruj Anjum
- , Hayley Archer
- , Ruth Armstrong
- , Jana Awada
- , Meena Balasubramanian
- , Siddharth Banka
- , Diana Baralle
- , Angela Barnicoat
- , Paul Batstone
- , David Baty
- , Chris Bennett
- , Jonathan Berg
- , Birgitta Bernhard
- , A. Paul Bevan
- , Maria Bitner-Glindzicz
- , Edward Blair
- , Moira Blyth
- , David Bohanna
- , Louise Bourdon
- , David Bourn
- , Lisa Bradley
- , Angela Brady
- , Simon Brent
- , Carole Brewer
- , Kate Brunstrom
- , David J. Bunyan
- , John Burn
- , Natalie Canham
- , Bruce Castle
- , Kate Chandler
- , Elena Chatzimichali
- , Deirdre Cilliers
- , Angus Clarke
- , Susan Clasper
- , Jill Clayton-Smith
- , Virginia Clowes
- , Andrea Coates
- , Trevor Cole
- , Irina Colgiu
- , Amanda Collins
- , Morag N. Collinson
- , Fiona Connell
- , Nicola Cooper
- , Helen Cox
- , Lara Cresswell
- , Gareth Cross
- , Yanick Crow
- , Mariella D’Alessandro
- , Tabib Dabir
- , Rosemarie Davidson
- , Sally Davies
- , Dylan de Vries
- , John Dean
- , Charu Deshpande
- , Gemma Devlin
- , Abhijit Dixit
- , Angus Dobbie
- , Alan Donaldson
- , Dian Donnai
- , Deirdre Donnelly
- , Carina Donnelly
- , Angela 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 Fry
- , Alan Fryer
- , Carol Gardiner
- , Lorraine Gaunt
- , Neeti Ghali
- , Richard Gibbons
- , Harinder Gill
- , Judith Goodship
- , David Goudie
- , Emma Gray
- , Andrew Green
- , Philip Greene
- , Lynn Greenhalgh
- , Susan Gribble
- , Rachel Harrison
- , Lucy Harrison
- , Victoria Harrison
- , Rose Hawkins
- , Liu He
- , Stephen Hellens
- , Alex Henderson
- , Sarah Hewitt
- , Lucy Hildyard
- , Emma Hobson
- , Simon Holden
- , Muriel Holder
- , Susan Holder
- , Georgina Hollingsworth
- , Tessa Homfray
- , Mervyn Humphreys
- , Jane Hurst
- , Ben Hutton
- , Stuart Ingram
- , Melita Irving
- , Lily Islam
- , Andrew Jackson
- , Joanna Jarvis
- , Lucy Jenkins
- , Diana Johnson
- , Elizabeth 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 A. 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 McNerlan
- , Catherine McWilliam
- , Sarju 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 Nemeth
- , Louise Nevitt
- , Andrew Norman
- , Rosie O’Shea
- , Caroline Ogilvie
- , Kai-Ren Ong
- , Soo-Mi Park
- , Michael J. Parker
- , Chirag Patel
- , Joan Paterson
- , Stewart Payne
- , Daniel Perrett
- , Julie Phipps
- , Daniela T. Pilz
- , Martin Pollard
- , Caroline Pottinger
- , Joanna Poulton
- , Norman Pratt
- , Katrina Prescott
- , Abigail Pridham
- , Annie Procter
- , Hellen Purnell
- , Oliver Quarrell
- , Nicola Ragge
- , Raheleh Rahbari
- , Josh Randall
- , Lucy Raymond
- , Debbie Rice
- , Leema Robert
- , Eileen Roberts
- , Jonathan Roberts
- , Paul Roberts
- , Gillian Roberts
- , Alison Ross
- , Elisabeth Rosser
- , Anand Saggar
- , Shalaka Samant
- , Julian Sampson
- , Richard Sandford
- , Ajoy Sarkar
- , Susann Schweiger
- , Richard 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 Smithson
- , Linda Sneddon
- , Miranda Splitt
- , Miranda Squires
- , Fiona Stewart
- , Helen Stewart
- , Volker Straub
- , Mohnish Suri
- , Vivienne Sutton
- , Ganesh Jawahar Swaminathan
- , Elizabeth Sweeney
- , Kate Tatton-Brown
- , Cat Taylor
- , Rohan Taylor
- , Mark Tein
- , I. Karen Temple
- , Jenny Thomson
- , Marc Tischkowitz
- , Susan Tomkins
- , Audrey Torokwa
- , Becky Treacy
- , Claire Turner
- , Peter Turnpenny
- , Carolyn Tysoe
- , Anthony Vandersteen
- , Vinod Varghese
- , Pradeep 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 Wilson
- , Geoff Woods
- , Christopher Wragg
- , Michael Wright
- , Laura Yates
- , Michael Yau
- , Chris Nellåker
- , Michael Parker
- , Helen V. Firth
- , Caroline F. Wright
- , David R. FitzPatrick
- , Jeffrey C. Barrett
- , Matthew E. Hurles
- , John D. Roberts
- , Robert M. Petrovich
- , Shinichi Machida
- , Hitoshi Kurumizaka
- , Stefan Lelieveld
- , Rolph Pfundt
- , Sandra Jansen
- , Pelagia Deriziotis
- , Laurence Faivre
- , Julien Thevenon
- , Mirna Assoum
- , Lawrence Shriberg
- , Tjitske Kleefstra
- , Han G. Brunner
- , Paul A. Wade
- , Simon E. Fisher
- & Philippe M. Campeau
-
Amendments and Corrections | | Open
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
- Lot Snijders Blok
- , Justine Rousseau
- , Joanna Twist
- , Sophie Ehresmann
- , Motoki Takaku
- , Hanka Venselaar
- , Lance H. Rodan
- , Catherine B. Nowak
- , Jessica Douglas
- , Kathryn J. Swoboda
- , Marcie A. Steeves
- , Inderneel Sahai
- , Connie T. R. M. Stumpel
- , Alexander P. A. Stegmann
- , Patricia Wheeler
- , Marcia Willing
- , Elise Fiala
- , Aaina Kochhar
- , William T. Gibson
- , Ana S. A. Cohen
- , Ruky Agbahovbe
- , A. Micheil Innes
- , P. Y. Billie Au
- , Julia Rankin
- , Ilse J. Anderson
- , Steven A. Skinner
- , Raymond J. Louie
- , Hannah E. Warren
- , Alexandra Afenjar
- , Boris Keren
- , Caroline Nava
- , Julien Buratti
- , Arnaud Isapof
- , Diana Rodriguez
- , Raymond Lewandowski
- , Jennifer Propst
- , Ton van Essen
- , Murim Choi
- , Sangmoon Lee
- , Jong H. Chae
- , Susan Price
- , Rhonda E. Schnur
- , Ganka Douglas
- , Ingrid M. Wentzensen
- , Christiane Zweier
- , André Reis
- , Martin G. Bialer
- , Christine Moore
- , Marije Koopmans
- , Eva H. Brilstra
- , Glen R. Monroe
- , Koen L. I. van Gassen
- , Ellen van Binsbergen
- , Ruth Newbury-Ecob
- , Lucy Bownass
- , Ingrid Bader
- , Johannes A. Mayr
- , Saskia B. Wortmann
- , Kathy J. Jakielski
- , Edythe A. Strand
- , Katja Kloth
- , Tatjana Bierhals
- , 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 King
- , Netravathi Krishnappa
- , Laura E. Mason
- , Tarjinder Singh
- , Adrian R. Tivey
- , Munaza Ahmed
- , Uruj Anjum
- , Hayley Archer
- , Ruth Armstrong
- , Jana Awada
- , Meena Balasubramanian
- , Siddharth Banka
- , Diana Baralle
- , Angela Barnicoat
- , Paul Batstone
- , David Baty
- , Chris Bennett
- , Jonathan Berg
- , Birgitta Bernhard
- , A. Paul Bevan
- , Maria Bitner-Glindzicz
- , Edward Blair
- , Moira Blyth
- , David Bohanna
- , Louise Bourdon
- , David Bourn
- , Lisa Bradley
- , Angela Brady
- , Simon Brent
- , Carole Brewer
- , Kate Brunstrom
- , David J. Bunyan
- , John Burn
- , Natalie Canham
- , Bruce Castle
- , Kate Chandler
- , Elena Chatzimichali
- , Deirdre Cilliers
- , Angus Clarke
- , Susan Clasper
- , Jill Clayton-Smith
- , Virginia Clowes
- , Andrea Coates
- , Trevor Cole
- , Irina Colgiu
- , Amanda Collins
- , Morag N. Collinson
- , Fiona Connell
- , Nicola Cooper
- , Helen Cox
- , Lara Cresswell
- , Gareth Cross
- , Jill Clayton-Smith
- , Virginia Clowes
- , Andrea Coates
- , Trevor Cole
- , Irina Colgiu
- , Amanda Collins
- , Morag N. Collinson
- , Fiona Connell
- , Nicola Cooper
- , Helen Cox
- , Lara Cresswell
- , Gareth Cross
- , Yanick Crow
- , Mariella D’Alessandro
- , Tabib Dabir
- , Rosemarie Davidson
- , Sally Davies
- , Dylan de Vries
- , John Dean
- , Charu Deshpande
- , Gemma Devlin
- , Abhijit Dixit
- , Angus Dobbie
- , Alan Donaldson
- , Dian Donnai
- , Deirdre Donnelly
- , Carina Donnelly
- , Angela 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 Fry
- , Alan Fryer
- , Carol Gardiner
- , Lorraine Gaunt
- , Neeti Ghali
- , Richard Gibbons
- , Harinder Gill
- , Judith Goodship
- , David Goudie
- , Emma Gray
- , Andrew Green
- , Philip Greene
- , Lynn Greenhalgh
- , Susan Gribble
- , Rachel Harrison
- , Lucy Harrison
- , Victoria Harrison
- , Rose Hawkins
- , Liu He
- , Stephen Hellens
- , Alex Henderson
- , Sarah Hewitt
- , Lucy Hildyard
- , Emma Hobson
- , Simon Holden
- , Muriel Holder
- , Susan Holder
- , Georgina Hollingsworth
- , Tessa Homfray
- , Mervyn Humphreys
- , Jane Hurst
- , Ben Hutton
- , Stuart Ingram
- , Melita Irving
- , Lily Islam
- , Andrew Jackson
- , Joanna Jarvis
- , Lucy Jenkins
- , Diana Johnson
- , Elizabeth 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 A. 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 McNerlan
- , Catherine McWilliam
- , Sarju 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 Nemeth
- , Louise Nevitt
- , Andrew Norman
- , Rosie O’Shea
- , Caroline Ogilvie
- , Kai-Ren Ong
- , Soo-Mi Park
- , Michael J. Parker
- , Chirag Patel
- , Joan Paterson
- , Stewart Payne
- , Daniel Perrett
- , Julie Phipps
- , Daniela T. Pilz
- , Martin Pollard
- , Caroline Pottinger
- , Joanna Poulton
- , Norman Pratt
- , Katrina Prescott
- , Abigail Pridham
- , Annie Procter
- , Hellen Purnell
- , Oliver Quarrell
- , Nicola Ragge
- , Raheleh Rahbari
- , Josh Randall
- , Lucy Raymond
- , Debbie Rice
- , Leema Robert
- , Eileen Roberts
- , Jonathan Roberts
- , Paul Roberts
- , Gillian Roberts
- , Alison Ross
- , Elisabeth Rosser
- , Anand Saggar
- , Shalaka Samant
- , Julian Sampson
- , Richard Sandford
- , Ajoy Sarkar
- , Susann Schweiger
- , Richard 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 Smithson
- , Linda Sneddon
- , Miranda Splitt
- , Miranda Squires
- , Fiona Stewart
- , Helen Stewart
- , Volker Straub
- , Mohnish Suri
- , Vivienne Sutton
- , Ganesh Jawahar Swaminathan
- , Elizabeth Sweeney
- , Kate Tatton-Brown
- , Cat Taylor
- , Rohan Taylor
- , Mark Tein
- , I. Karen Temple
- , Jenny Thomson
- , Marc Tischkowitz
- , Susan Tomkins
- , Audrey Torokwa
- , Becky Treacy
- , Claire Turner
- , Peter Turnpenny
- , Carolyn Tysoe
- , Anthony Vandersteen
- , Vinod Varghese
- , Pradeep 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 Wilson
- , Geoff Woods
- , Christopher Wragg
- , Michael Wright
- , Laura Yates
- , Michael Yau
- , Chris Nellåker
- , Michael Parker
- , Helen V. Firth
- , Caroline F. Wright
- , David R. FitzPatrick
- , Jeffrey C. Barrett
- , Matthew E. Hurles
- , John D. Roberts
- , Robert M. Petrovich
- , Shinichi Machida
- , Hitoshi Kurumizaka
- , Stefan Lelieveld
- , Rolph Pfundt
- , Sandra Jansen
- , Pelagia Deriziotis
- , Laurence Faivre
- , Julien Thevenon
- , Mirna Assoum
- , Lawrence Shriberg
- , Tjitske Kleefstra
- , Han G. Brunner
- , Paul A. Wade
- , Simon E. Fisher
- & Philippe M. Campeau
-
Research | | Open
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
- Lot Snijders Blok
- , Justine Rousseau
- , Joanna Twist
- , Sophie Ehresmann
- , Motoki Takaku
- , Hanka Venselaar
- , Lance H. Rodan
- , Catherine B. Nowak
- , Jessica Douglas
- , Kathryn J. Swoboda
- , Marcie A. Steeves
- , Inderneel Sahai
- , Connie T. R. M. Stumpel
- , Alexander P. A. Stegmann
- , Patricia Wheeler
- , Marcia Willing
- , Elise Fiala
- , Aaina Kochhar
- , William T. Gibson
- , Ana S. A. Cohen
- , Ruky Agbahovbe
- , A. Micheil Innes
- , P. Y. Billie Au
- , Julia Rankin
- , Ilse J. Anderson
- , Steven A. Skinner
- , Raymond J. Louie
- , Hannah E. Warren
- , Alexandra Afenjar
- , Boris Keren
- , Caroline Nava
- , Julien Buratti
- , Arnaud Isapof
- , Diana Rodriguez
- , Raymond Lewandowski
- , Jennifer Propst
- , Ton van Essen
- , Murim Choi
- , Sangmoon Lee
- , Jong H. Chae
- , Susan Price
- , Rhonda E. Schnur
- , Ganka Douglas
- , Ingrid M. Wentzensen
- , Christiane Zweier
- , André Reis
- , Martin G. Bialer
- , Christine Moore
- , Marije Koopmans
- , Eva H. Brilstra
- , Glen R. Monroe
- , Koen L. I. van Gassen
- , Ellen van Binsbergen
- , Ruth Newbury-Ecob
- , Lucy Bownass
- , Ingrid Bader
- , Johannes A. Mayr
- , Saskia B. Wortmann
- , Kathy J. Jakielski
- , Edythe A. Strand
- , Katja Kloth
- , Tatjana Bierhals
- , 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 King
- , Netravathi Krishnappa
- , Laura E. Mason
- , Tarjinder Singh
- , Adrian R. Tivey
- , Munaza Ahmed
- , Uruj Anjum
- , Hayley Archer
- , Ruth Armstrong
- , Jana Awada
- , Meena Balasubramanian
- , Siddharth Banka
- , Diana Baralle
- , Angela Barnicoat
- , Paul Batstone
- , David Baty
- , Chris Bennett
- , Jonathan Berg
- , Birgitta Bernhard
- , A. Paul Bevan
- , Maria Bitner-Glindzicz
- , Edward Blair
- , Moira Blyth
- , David Bohanna
- , Louise Bourdon
- , David Bourn
- , Lisa Bradley
- , Angela Brady
- , Simon Brent
- , Carole Brewer
- , Kate Brunstrom
- , David J. Bunyan
- , John Burn
- , Natalie Canham
- , Bruce Castle
- , Kate Chandler
- , Elena Chatzimichali
- , Deirdre Cilliers
- , Angus Clarke
- , Susan Clasper
- , Jill Clayton-Smith
- , Virginia Clowes
- , Andrea Coates
- , Trevor Cole
- , Irina Colgiu
- , Amanda Collins
- , Morag N. Collinson
- , Fiona Connell
- , Nicola Cooper
- , Helen Cox
- , Lara Cresswell
- , Gareth Cross
- , Yanick Crow
- , Mariella D’Alessandro
- , Tabib Dabir
- , Rosemarie Davidson
- , Sally Davies
- , Dylan de Vries
- , John Dean
- , Charu Deshpande
- , Gemma Devlin
- , Abhijit Dixit
- , Angus Dobbie
- , Alan Donaldson
- , Dian Donnai
- , Deirdre Donnelly
- , Carina Donnelly
- , Angela 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 Fry
- , Alan Fryer
- , Carol Gardiner
- , Lorraine Gaunt
- , Neeti Ghali
- , Richard Gibbons
- , Harinder Gill
- , Judith Goodship
- , David Goudie
- , Emma Gray
- , Andrew Green
- , Philip Greene
- , Lynn Greenhalgh
- , Susan Gribble
- , Rachel Harrison
- , Lucy Harrison
- , Victoria Harrison
- , Rose Hawkins
- , Liu He
- , Stephen Hellens
- , Alex Henderson
- , Sarah Hewitt
- , Lucy Hildyard
- , Emma Hobson
- , Simon Holden
- , Muriel Holder
- , Susan Holder
- , Georgina Hollingsworth
- , Tessa Homfray
- , Mervyn Humphreys
- , Jane Hurst
- , Ben Hutton
- , Stuart Ingram
- , Melita Irving
- , Lily Islam
- , Andrew Jackson
- , Joanna Jarvis
- , Lucy Jenkins
- , Diana Johnson
- , Elizabeth 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 A. 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 McNerlan
- , Catherine McWilliam
- , Sarju 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 Nemeth
- , Louise Nevitt
- , Andrew Norman
- , Rosie O’Shea
- , Caroline Ogilvie
- , Kai-Ren Ong
- , Soo-Mi Park
- , Michael J. Parker
- , Chirag Patel
- , Joan Paterson
- , Stewart Payne
- , Daniel Perrett
- , Julie Phipps
- , Daniela T. Pilz
- , Martin Pollard
- , Caroline Pottinger
- , Joanna Poulton
- , Norman Pratt
- , Katrina Prescott
- , Abigail Pridham
- , Annie Procter
- , Hellen Purnell
- , Oliver Quarrell
- , Nicola Ragge
- , Raheleh Rahbari
- , Josh Randall
- , Lucy Raymond
- , Debbie Rice
- , Leema Robert
- , Eileen Roberts
- , Jonathan Roberts
- , Paul Roberts
- , Gillian Roberts
- , Alison Ross
- , Elisabeth Rosser
- , Anand Saggar
- , Shalaka Samant
- , Julian Sampson
- , Richard Sandford
- , Ajoy Sarkar
- , Susann Schweiger
- , Richard 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 Smithson
- , Linda Sneddon
- , Miranda Splitt
- , Miranda Squires
- , Fiona Stewart
- , Helen Stewart
- , Volker Straub
- , Mohnish Suri
- , Vivienne Sutton
- , Ganesh Jawahar Swaminathan
- , Elizabeth Sweeney
- , Kate Tatton-Brown
- , Cat Taylor
- , Rohan Taylor
- , Mark Tein
- , I. Karen Temple
- , Jenny Thomson
- , Marc Tischkowitz
- , Susan Tomkins
- , Audrey Torokwa
- , Becky Treacy
- , Claire Turner
- , Peter Turnpenny
- , Carolyn Tysoe
- , Anthony Vandersteen
- , Vinod Varghese
- , Pradeep 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 Wilson
- , Geoff Woods
- , Christopher Wragg
- , Michael Wright
- , Laura Yates
- , Michael Yau
- , Chris Nellåker
- , Michael Parker
- , Helen V. Firth
- , Caroline F. Wright
- , David R. FitzPatrick
- , Jeffrey C. Barrett
- , Matthew E. Hurles
- , John D. Roberts
- , Robert M. Petrovich
- , Shinichi Machida
- , Hitoshi Kurumizaka
- , Stefan Lelieveld
- , Rolph Pfundt
- , Sandra Jansen
- , Pelagia Deriziotis
- , Laurence Faivre
- , Julien Thevenon
- , Mirna Assoum
- , Lawrence Shriberg
- , Tjitske Kleefstra
- , Han G. Brunner
- , Paul A. Wade
- , Simon E. Fisher
- & Philippe M. Campeau
-
Amendments and Corrections | | Open
Publisher Correction: Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data
- James H. R. Farmery
- , Mike L. Smith
- , Aarnoud Huissoon
- , Abigail Furnell
- , Adam Mead
- , Adam P. Levine
- , Adnan Manzur
- , Adrian Thrasher
- , Alan Greenhalgh
- , Alasdair Parker
- , Alba Sanchis-Juan
- , Alex Richter
- , Alice Gardham
- , Allan Lawrie
- , Aman Sohal
- , Amanda Creaser-Myers
- , Amy Frary
- , Andreas Greinacher
- , Andreas Themistocleous
- , Andrew J. Peacock
- , Andrew Marshall
- , Andrew Mumford
- , Andrew Rice
- , Andrew Webster
- , Angie Brady
- , Ania Koziell
- , Ania Manson
- , Anita Chandra
- , Anke Hensiek
- , Anna Huis in’t Veld
- , Anna Maw
- , Anne M. Kelly
- , Anthony Moore
- , Anton Vonk Noordegraaf
- , Antony Attwood
- , Archana Herwadkar
- , Ardi Ghofrani
- , Arjan C. Houweling
- , Barbara Girerd
- , Bruce Furie
- , Carmen M. Treacy
- , Carolyn M. Millar
- , Carrock Sewell
- , Catherine Roughley
- , Catherine Titterton
- , Catherine Williamson
- , Charaka Hadinnapola
- , Charu Deshpande
- , Cheng-Hock Toh
- , Chiara Bacchelli
- , Chris Patch
- , Chris Van Geet
- , Christian Babbs
- , Christine Bryson
- , Christopher J. Penkett
- , Christopher J. Rhodes
- , Christopher Watt
- , Claire Bethune
- , Claire Booth
- , Claire Lentaigne
- , Coleen McJannet
- , Colin Church
- , Courtney French
- , Crina Samarghitean
- , Csaba Halmagyi
- , Daniel Gale
- , Daniel Greene
- , Daniel Hart
- , David Allsup
- , David Bennett
- , David Edgar
- , David G. Kiely
- , David Gosal
- , David J. Perry
- , David Keeling
- , David Montani
- , Debbie Shipley
- , Deborah Whitehorn
- , Debra Fletcher
- , Deepa Krishnakumar
- , Detelina Grozeva
- , Dinakantha Kumararatne
- , Dorothy Thompson
- , Dragana Josifova
- , Eamonn Maher
- , Edwin K. S. Wong
- , Elaine Murphy
- , Eleanor Dewhurst
- , Eleni Louka
- , Elisabeth Rosser
- , Elizabeth Chalmers
- , Elizabeth Colby
- , Elizabeth Drewe
- , Elizabeth McDermott
- , Ellen Thomas
- , Emily Staples
- , Emma Clement
- , Emma Matthews
- , Emma Wakeling
- , Eric Oksenhendler
- , Ernest Turro
- , Evan Reid
- , Evangeline Wassmer
- , F. Lucy Raymond
- , Fengyuan Hu
- , Fiona Kennedy
- , Florent Soubrier
- , Frances Flinter
- , Gabor Kovacs
- , Gary Polwarth
- , Gautum Ambegaonkar
- , Gavin Arno
- , Gavin Hudson
- , Geoff Woods
- , Gerry Coghlan
- , Grant Hayman
- , Gururaj Arumugakani
- , Gwen Schotte
- , H. Terry Cook
- , Hana Alachkar
- , Hana Lango Allen
- , Hana Lango-Allen
- , Hannah Stark
- , Hans Stauss
- , Harald Schulze
- , Harm J. Boggard
- , Helen Baxendale
- , Helen Dolling
- , Helen Firth
- , Henning Gall
- , Henry Watson
- , Hilary Longhurst
- , Hugh S. Markus
- , Hugh Watkins
- , Ilenia Simeoni
- , Ingrid Emmerson
- , Irene Roberts
- , Isabella Quinti
- , Ivy Wanjiku
- , J. Simon R. Gibbs
- , James Thaventhiran
- , James Whitworth
- , Jane Hurst
- , Janine Collins
- , Jay Suntharalingam
- , Jeanette Payne
- , Jecko Thachil
- , Jennifer M. Martin
- , Jennifer Martin
- , Jenny Carmichael
- , Jesmeen Maimaris
- , Joan Paterson
- , Joanna Pepke-Zaba
- , Johan W. M. Heemskerk
- , Johanna Gebhart
- , John Davis
- , John Pasi
- , John R. Bradley
- , John Wharton
- , Jonathan Stephens
- , Julia Rankin
- , Julie Anderson
- , Julie Vogt
- , Julie von Ziegenweldt
- , Karola Rehnstrom
- , Karyn Megy
- , Kate Talks
- , Kathelijne Peerlinck
- , Katherine Yates
- , Kathleen Freson
- , Kathleen Stirrups
- , Keith Gomez
- , Kenneth G. C. Smith
- , Keren Carss
- , Kevin Rue-Albrecht
- , Kimberley Gilmour
- , Larahmie Masati
- , Laura Scelsi
- , Laura Southgate
- , Lavanya Ranganathan
- , Lionel Ginsberg
- , Lisa Devlin
- , Lisa Willcocks
- , Liz Ormondroyd
- , Lorena Lorenzo
- , Lorraine Harper
- , Louise Allen
- , Louise Daugherty
- , Manali Chitre
- , Manju Kurian
- , Marc Humbert
- , Marc Tischkowitz
- , Maria Bitner-Glindzicz
- , Marie Erwood
- , Marie Scully
- , Marijke Veltman
- , Mark Caulfield
- , Mark Layton
- , Mark McCarthy
- , Mark Ponsford
- , Mark Toshner
- , Marta Bleda
- , Martin Wilkins
- , Mary Mathias
- , Mary Reilly
- , Maryam Afzal
- , Matthew Brown
- , Matthew Rondina
- , Matthew Stubbs
- , Matthias Haimel
- , Melissa Lees
- , Michael A. Laffan
- , Michael Browning
- , Michael Gattens
- , Michael Richards
- , Michel Michaelides
- , Michele P. Lambert
- , Mike Makris
- , Minka De Vries
- , Mohamed Mahdi-Rogers
- , Moin Saleem
- , Moira Thomas
- , Muriel Holder
- , Mélanie Eyries
- , Naomi Clements-Brod
- , Natalie Canham
- , Natalie Dormand
- , Natalie Van Zuydam
- , Nathalie Kingston
- , Neeti Ghali
- , Nichola Cooper
- , Nicholas W. Morrell
- , Nigel Yeatman
- , Noémi Roy
- , Olga Shamardina
- , Omid S. Alavijeh
- , Paolo Gresele
- , Paquita Nurden
- , Patrick Chinnery
- , Patrick Deegan
- , Patrick Yong
- , Patrick Yu-Wai-Man
- , Paul A. Corris
- , Paul Calleja
- , Paul Gissen
- , Paula Bolton-Maggs
- , Paula Rayner-Matthews
- , Pavandeep K. Ghataorhe
- , Pavel Gordins
- , Penelope Stein
- , Peter Collins
- , Peter Dixon
- , Peter Kelleher
- , Phil Ancliff
- , Ping Yu
- , R. Campbell Tait
- , Rachel Linger
- , Rainer Doffinger
- , Rajiv Machado
- , Rashid Kazmi
- , Ravishankar Sargur
- , Remi Favier
- , Rhea Tan
- , Ri Liesner
- , Richard Antrobus
- , Richard Sandford
- , Richard Scott
- , Richard Trembath
- , Rita Horvath
- , Rob Hadden
- , Rob V. MackenzieRoss
- , Robert Henderson
- , Robert MacLaren
- , Roger James
- , Rohit Ghurye
- , Rosa DaCosta
- , Rosie Hague
- , Rutendo Mapeta
- , Ruth Armstrong
- , Sadia Noorani
- , Sai Murng
- , Saikat Santra
- , Salih Tuna
- , Sally Johnson
- , Sam Chong
- , Sara Lear
- , Sara Walker
- , Sarah Goddard
- , Sarah Mangles
- , Sarah Westbury
- , Sarju Mehta
- , Scott Hackett
- , Sergey Nejentsev
- , Shahin Moledina
- , Shahnaz Bibi
- , Sharon Meehan
- , Shokri Othman
- , Shoshana Revel-Vilk
- , Simon Holden
- , Simon McGowan
- , Simon Staines
- , Sinisa Savic
- , Siobhan Burns
- , Sofia Grigoriadou
- , Sofia Papadia
- , Sofie Ashford
- , Sol Schulman
- , Sonia Ali
- , Soo-Mi Park
- , Sophie Davies
- , Sophie Stock
- , Souad Ali
- , Sri V. V. Deevi
- , Stefan Gräf
- , Stefano Ghio
- , Stephen J. Wort
- , Stephen Jolles
- , Steve Austin
- , Steve Welch
- , Stuart Meacham
- , Stuart Rankin
- , Suellen Walker
- , Suranjith Seneviratne
- , Susan Holder
- , Suthesh Sivapalaratnam
- , Sylvia Richardson
- , Taco Kuijpers
- , Taco W. Kuijpers
- , Tadbir K. Bariana
- , Tamam Bakchoul
- , Tamara Everington
- , Tara Renton
- , Tim Young
- , Timothy Aitman
- , Timothy Q. Warner
- , Tom Vale
- , Tracey Hammerton
- , Val Pollock
- , Vera Matser
- , Victoria Cookson
- , Virginia Clowes
- , Waseem Qasim
- , Wei Wei
- , Wendy N. Erber
- , Willem H. Ouwehand
- , William Astle
- , William Egner
- , Wojciech Turek
- , Yvonne Henskens
- , Yvonne Tan
- & Andy G. Lynch
-
Research | | Open
Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data
- James H. R. Farmery
- , Mike L. Smith
- , Aarnoud Huissoon
- , Abigail Furnell
- , Adam Mead
- , Adam P. Levine
- , Adnan Manzur
- , Adrian Thrasher
- , Alan Greenhalgh
- , Alasdair Parker
- , Alba Sanchis-Juan
- , Alex Richter
- , Alice Gardham
- , Allan Lawrie
- , Aman Sohal
- , Amanda Creaser-Myers
- , Amy Frary
- , Andreas Greinacher
- , Andreas Themistocleous
- , Andrew J. Peacock
- , Andrew Marshall
- , Andrew Mumford
- , Andrew Rice
- , Andrew Webster
- , Angie Brady
- , Ania Koziell
- , Ania Manson
- , Anita Chandra
- , Anke Hensiek
- , Anna Huis in’t Veld
- , Anna Maw
- , Anne M. Kelly
- , Anthony Moore
- , Anton Vonk Noordegraaf
- , Antony Attwood
- , Archana Herwadkar
- , Ardi Ghofrani
- , Arjan C. Houweling
- , Barbara Girerd
- , Bruce Furie
- , Carmen M. Treacy
- , Carolyn M. Millar
- , Carrock Sewell
- , Catherine Roughley
- , Catherine Titterton
- , Catherine Williamson
- , Charaka Hadinnapola
- , Charu Deshpande
- , Cheng-Hock Toh
- , Chiara Bacchelli
- , Chris Patch
- , Chris Van Geet
- , Christian Babbs
- , Christine Bryson
- , Christopher J. Penkett
- , Christopher J. Rhodes
- , Christopher Watt
- , Claire Bethune
- , Claire Booth
- , Claire Lentaigne
- , Coleen McJannet
- , Colin Church
- , Courtney French
- , Crina Samarghitean
- , Csaba Halmagyi
- , Daniel Gale
- , Daniel Greene
- , Daniel Hart
- , David Allsup
- , David Bennett
- , David Edgar
- , David G. Kiely
- , David Gosal
- , David J. Perry
- , David Keeling
- , David Montani
- , Debbie Shipley
- , Deborah Whitehorn
- , Debra Fletcher
- , Deepa Krishnakumar
- , Detelina Grozeva
- , Dinakantha Kumararatne
- , Dorothy Thompson
- , Dragana Josifova
- , Eamonn Maher
- , Edwin K. S. Wong
- , Elaine Murphy
- , Eleanor Dewhurst
- , Eleni Louka
- , Elisabeth Rosser
- , Elizabeth Chalmers
- , Elizabeth Colby
- , Elizabeth Drewe
- , Elizabeth McDermott
- , Ellen Thomas
- , Emily Staples
- , Emma Clement
- , Emma Matthews
- , Emma Wakeling
- , Eric Oksenhendler
- , Ernest Turro
- , Evan Reid
- , Evangeline Wassmer
- , F. Lucy Raymond
- , Fengyuan Hu
- , Fiona Kennedy
- , Florent Soubrier
- , Frances Flinter
- , Gabor Kovacs
- , Gary Polwarth
- , Gautum Ambegaonkar
- , Gavin Arno
- , Gavin Hudson
- , Geoff Woods
- , Gerry Coghlan
- , Grant Hayman
- , Gururaj Arumugakani
- , Gwen Schotte
- , H. Terry Cook
- , Hana Alachkar
- , Hana Lango Allen
- , Hana Lango-Allen
- , Hannah Stark
- , Hans Stauss
- , Harald Schulze
- , Harm J. Boggard
- , Helen Baxendale
- , Helen Dolling
- , Helen Firth
- , Henning Gall
- , Henry Watson
- , Hilary Longhurst
- , Hugh S. Markus
- , Hugh Watkins
- , Ilenia Simeoni
- , Ingrid Emmerson
- , Irene Roberts
- , Isabella Quinti
- , Ivy Wanjiku
- , J. Simon R. Gibbs
- , James Thaventhiran
- , James Whitworth
- , Jane Hurst
- , Janine Collins
- , Jay Suntharalingam
- , Jeanette Payne
- , Jecko Thachil
- , Jennifer M. Martin
- , Jennifer Martin
- , Jenny Carmichael
- , Jesmeen Maimaris
- , Joan Paterson
- , Joanna Pepke-Zaba
- , Johan W. M. Heemskerk
- , Johanna Gebhart
- , John Davis
- , John Pasi
- , John R. Bradley
- , John Wharton
- , Jonathan Stephens
- , Julia Rankin
- , Julie Anderson
- , Julie Vogt
- , Julie von Ziegenweldt
- , Karola Rehnstrom
- , Karyn Megy
- , Kate Talks
- , Kathelijne Peerlinck
- , Katherine Yates
- , Kathleen Freson
- , Kathleen Stirrups
- , Keith Gomez
- , Kenneth G. C. Smith
- , Keren Carss
- , Kevin Rue-Albrecht
- , Kimberley Gilmour
- , Larahmie Masati
- , Laura Scelsi
- , Laura Southgate
- , Lavanya Ranganathan
- , Lionel Ginsberg
- , Lisa Devlin
- , Lisa Willcocks
- , Liz Ormondroyd
- , Lorena Lorenzo
- , Lorraine Harper
- , Louise Allen
- , Louise Daugherty
- , Manali Chitre
- , Manju Kurian
- , Marc Humbert
- , Marc Tischkowitz
- , Maria Bitner-Glindzicz
- , Marie Erwood
- , Marie Scully
- , Marijke Veltman
- , Mark Caulfield
- , Mark Layton
- , Mark McCarthy
- , Mark Ponsford
- , Mark Toshner
- , Marta Bleda
- , Martin Wilkins
- , Mary Mathias
- , Mary Reilly
- , Maryam Afzal
- , Matthew Brown
- , Matthew Rondina
- , Matthew Stubbs
- , Matthias Haimel
- , Melissa Lees
- , Michael A. Laffan
- , Michael Browning
- , Michael Gattens
- , Michael Richards
- , Michel Michaelides
- , Michele P. Lambert
- , Mike Makris
- , Minka De Vries
- , Mohamed Mahdi-Rogers
- , Moin Saleem
- , Moira Thomas
- , Muriel Holder
- , Mélanie Eyries
- , Naomi Clements-Brod
- , Natalie Canham
- , Natalie Dormand
- , Natalie Van Zuydam
- , Nathalie Kingston
- , Neeti Ghali
- , Nichola Cooper
- , Nicholas W. Morrell
- , Nigel Yeatman
- , Noémi Roy
- , Olga Shamardina
- , Omid S. Alavijeh
- , Paolo Gresele
- , Paquita Nurden
- , Patrick Chinnery
- , Patrick Deegan
- , Patrick Yong
- , Patrick Yu-Wai-Man
- , Paul A. Corris
- , Paul Calleja
- , Paul Gissen
- , Paula Bolton-Maggs
- , Paula Rayner-Matthews
- , Pavandeep K. Ghataorhe
- , Pavel Gordins
- , Penelope Stein
- , Peter Collins
- , Peter Dixon
- , Peter Kelleher
- , Phil Ancliff
- , Ping Yu
- , R. Campbell Tait
- , Rachel Linger
- , Rainer Doffinger
- , Rajiv Machado
- , Rashid Kazmi
- , Ravishankar Sargur
- , Remi Favier
- , Rhea Tan
- , Ri Liesner
- , Richard Antrobus
- , Richard Sandford
- , Richard Scott
- , Richard Trembath
- , Rita Horvath
- , Rob Hadden
- , Rob V. MackenzieRoss
- , Robert Henderson
- , Robert MacLaren
- , Roger James
- , Rohit Ghurye
- , Rosa DaCosta
- , Rosie Hague
- , Rutendo Mapeta
- , Ruth Armstrong
- , Sadia Noorani
- , Sai Murng
- , Saikat Santra
- , Salih Tuna
- , Sally Johnson
- , Sam Chong
- , Sara Lear
- , Sara Walker
- , Sarah Goddard
- , Sarah Mangles
- , Sarah Westbury
- , Sarju Mehta
- , Scott Hackett
- , Sergey Nejentsev
- , Shahin Moledina
- , Shahnaz Bibi
- , Sharon Meehan
- , Shokri Othman
- , Shoshana Revel-Vilk
- , Simon Holden
- , Simon McGowan
- , Simon Staines
- , Sinisa Savic
- , Siobhan Burns
- , Sofia Grigoriadou
- , Sofia Papadia
- , Sofie Ashford
- , Sol Schulman
- , Sonia Ali
- , Soo-Mi Park
- , Sophie Davies
- , Sophie Stock
- , Souad Ali
- , Sri V. V. Deevi
- , Stefan Gräf
- , Stefano Ghio
- , Stephen J. Wort
- , Stephen Jolles
- , Steve Austin
- , Steve Welch
- , Stuart Meacham
- , Stuart Rankin
- , Suellen Walker
- , Suranjith Seneviratne
- , Susan Holder
- , Suthesh Sivapalaratnam
- , Sylvia Richardson
- , Taco Kuijpers
- , Taco W. Kuijpers
- , Tadbir K. Bariana
- , Tamam Bakchoul
- , Tamara Everington
- , Tara Renton
- , Tim Young
- , Timothy Aitman
- , Timothy Q. Warner
- , Tom Vale
- , Tracey Hammerton
- , Val Pollock
- , Vera Matser
- , Victoria Cookson
- , Virginia Clowes
- , Waseem Qasim
- , Wei Wei
- , Wendy N. Erber
- , Willem H. Ouwehand
- , William Astle
- , William Egner
- , Wojciech Turek
- , Yvonne Henskens
- , Yvonne Tan
- & Andy G. Lynch
-
Research |
Prevalence and architecture of de novo mutations in developmental disorders
- 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 King
- , Netravathi Krishnappa
- , Laura E. Mason
- , Tarjinder Singh
- , Adrian R. Tivey
- , Munaza Ahmed
- , Uruj Anjum
- , Hayley Archer
- , Ruth Armstrong
- , Jana Awada
- , Meena Balasubramanian
- , Siddharth Banka
- , Diana Baralle
- , Angela Barnicoat
- , Paul Batstone
- , David Baty
- , Chris Bennett
- , Jonathan Berg
- , Birgitta Bernhard
- , A. Paul Bevan
- , Maria Bitner-Glindzicz
- , Edward Blair
- , Moira Blyth
- , David Bohanna
- , Louise Bourdon
- , David Bourn
- , Lisa Bradley
- , Angela Brady
- , Simon Brent
- , Carole Brewer
- , Kate Brunstrom
- , David J. Bunyan
- , John Burn
- , Natalie Canham
- , Bruce Castle
- , Kate Chandler
- , Elena Chatzimichali
- , Deirdre Cilliers
- , Angus Clarke
- , Susan Clasper
- , Jill Clayton-Smith
- , Virginia Clowes
- , Andrea Coates
- , Trevor Cole
- , Irina Colgiu
- , Amanda Collins
- , Morag N. Collinson
- , Fiona Connell
- , Nicola Cooper
- , Helen Cox
- , Lara Cresswell
- , Gareth Cross
- , Yanick Crow
- , Mariella D’Alessandro
- , Tabib Dabir
- , Rosemarie Davidson
- , Sally Davies
- , Dylan de Vries
- , John Dean
- , Charu Deshpande
- , Gemma Devlin
- , Abhijit Dixit
- , Angus Dobbie
- , Alan Donaldson
- , Dian Donnai
- , Deirdre Donnelly
- , Carina Donnelly
- , Angela 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 Fry
- , Alan Fryer
- , Carol Gardiner
- , Lorraine Gaunt
- , Neeti Ghali
- , Richard Gibbons
- , Harinder Gill
- , Judith Goodship
- , David Goudie
- , Emma Gray
- , Andrew Green
- , Philip Greene
- , Lynn Greenhalgh
- , Susan Gribble
- , Rachel Harrison
- , Lucy Harrison
- , Victoria Harrison
- , Rose Hawkins
- , Liu He
- , Stephen Hellens
- , Alex Henderson
- , Sarah Hewitt
- , Lucy Hildyard
- , Emma Hobson
- , Simon Holden
- , Muriel Holder
- , Susan Holder
- , Georgina Hollingsworth
- , Tessa Homfray
- , Mervyn Humphreys
- , Jane Hurst
- , Ben Hutton
- , Stuart Ingram
- , Melita Irving
- , Lily Islam
- , Andrew Jackson
- , Joanna Jarvis
- , Lucy Jenkins
- , Diana Johnson
- , Elizabeth 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 A. 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 McNerlan
- , Catherine McWilliam
- , Sarju 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 Nemeth
- , Louise Nevitt
- , Ruth Newbury-Ecob
- , Andrew Norman
- , Rosie O’Shea
- , Caroline Ogilvie
- , Kai-Ren Ong
- , Soo-Mi Park
- , Michael J. Parker
- , Chirag Patel
- , Joan Paterson
- , Stewart Payne
- , Daniel Perrett
- , Julie Phipps
- , Daniela T. Pilz
- , Martin Pollard
- , Caroline Pottinger
- , Joanna Poulton
- , Norman Pratt
- , Katrina Prescott
- , Sue Price
- , Abigail Pridham
- , Annie Procter
- , Hellen Purnell
- , Oliver Quarrell
- , Nicola 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 Sampson
- , Richard Sandford
- , Ajoy Sarkar
- , Susann Schweiger
- , Richard 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 Smithson
- , Linda Sneddon
- , Miranda Splitt
- , Miranda Squires
- , Fiona Stewart
- , Helen Stewart
- , Volker Straub
- , Mohnish Suri
- , Vivienne Sutton
- , Ganesh Jawahar Swaminathan
- , Elizabeth Sweeney
- , Kate Tatton-Brown
- , Cat Taylor
- , Rohan Taylor
- , Mark Tein
- , I. Karen Temple
- , Jenny Thomson
- , Marc Tischkowitz
- , Susan Tomkins
- , Audrey Torokwa
- , Becky Treacy
- , Claire Turner
- , Peter Turnpenny
- , Carolyn Tysoe
- , Anthony Vandersteen
- , Vinod Varghese
- , Pradeep 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 Wilson
- , Geoff Woods
- , Christopher Wragg
- , Michael Wright
- , Laura Yates
- , Michael Yau
- , Chris Nellåker
- , Michael Parker
- , Helen V. Firth
- , Caroline F. Wright
- , David R. FitzPatrick
- , Jeffrey C. Barrett
- & Matthew E. Hurles
-
Research | | Open
-
Research |
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome
- Caroline Rooryck
- , Anna Diaz-Font
- , Daniel P S Osborn
- , Elyes Chabchoub
- , Victor Hernandez-Hernandez
- , Hanan Shamseldin
- , Joanna Kenny
- , Aoife Waters
- , Dagan Jenkins
- , Ali Al Kaissi
- , Gabriela F Leal
- , Bruno Dallapiccola
- , Franco Carnevale
- , Maria Bitner-Glindzicz
- , Melissa Lees
- , Raoul Hennekam
- , Philip Stanier
- , Alan J Burns
- , Hilde Peeters
- , Fowzan S Alkuraya
- & Philip L Beales
-
Research |
A human homologue of the Drosophila eyes absent gene underlies Branchio-Oto-Renal (BOR) syndrome and identifies a novel gene family
- Sonia Abdelhak
- , Vasiliki Kalatzis
- , Roland Heilig
- , Sylvie Compain
- , Delphine Samson
- , Christophe Vincent
- , Dominique Weil
- , Corinne Cruaud
- , Iman Sahly
- , Michel Leibovici
- , Maria Bitner-Glindzicz
- , Mary Francis
- , Didier Lacombe
- , Jacqueline Vigneron
- , Robert Charachon
- , Katia Boven
- , Philippe Bedbeder
- , Nicole Van Regemorter
- , Jean Weissenbach
- & Christine Petit
