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Citations (2) -
- Esther Meyer
- Keren J. Carss
- Julia Rankin
- Jme Nichols
- Detelina Grozeva
- Agnel Praveen-Joseph
- Niccolo E. Mencacci
- Apostolos Papandreou
- J Ng
- Serena Barral
- Adeline Ngoh
- Hilla Ben Pazi
- M.A.A.P. Willemsen
- David Arkadir
- Angela Barnicoat
- Hagai Bergman
- Sanjay Bhate
- Amber Boys
- Niklas Darin
- Nicola Foulds
- Nicholas J. Gutowski
- A. Hills
- Henry Houlden
- Jane Hurst
- Zvi Israel
- Margaret Kaminska
- Patricia Limousin
- Daniel E. Lumsden
- Shane McKee
- Shibalik Misra
- Shekeeb S Mohammed
- Nakou
- Joost Nicolai
- Magnus Nilsson
- Hardev Pall
- Kathryn J. Peall
- Gregory Peters
- Prab Prabhakar
- Reuter
- Patrick Rump
- Reeval Segel
- Margje Sinnema
- Martin D. Smith
- Peter D Turnpenny
- Susan M. White
- Dagmar Wieczorek
- Sarah Wiethoff
- Brian T Wilson
- Gidon Winter
- Christopher Wragg
- Simon Pope
- Sjh Heales
- Deborah Morrogh
- Alan Pittman
- Lucinda Carr
- Belén Pérez-Dueñas
- J P Lin
- André Reis
- William A. Gahl
- Camilo Toro
- Kailash P. Bhatia
- Nicholas W. Wood
- E. J. Kamsteeg
- Wui K Chong
- Paul Gissen
- Maya Topf
- Russell C. Dale
- Chubb
- Fl Raymond
- Manju A. Kurian
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Citations (2) - 2017 Nature Genetics
- Esther Meyer
- Keren J. Carss
- Julia Rankin
- John M.E. Nichols
- Detelina Grozeva
- Agnel Praveen-Joseph
- Niccolo E. Mencacci
- Apostolos Papandreou
- J Ng
- Serena Barral
- Adeline Ngoh
- Hilla Ben Pazi
- M.A.A.P. Willemsen
- David Arkadir
- Angela Barnicoat
- Hagai Bergman
- Sanjay Bhate
- Amber Boys
- Niklas Darin
- Nicola Foulds
- Nicholas J. Gutowski
- A. Hills
- Henry Houlden
- Jane A. Hurst
- Zvi Israel
- Margaret Kaminska
- Patricia Limousin
- Daniel E. Lumsden
- Shane McKee
- Shibalik Misra
- Shekeeb S Mohammed
- Vasiliki Nakou
- Joost Nicolai
- Magnus Nilsson
- Hardev Pall
- Kathryn J. Peall
- Gregory Peters
- Prab Prabhakar
- Miriam S. Reuter
- Patrick Rump
- Reeval Segel
- Margje Sinnema
- Martin D. Smith
- Peter D. Turnpenny
- Susan M. White
- Dagmar Wieczorek
- Sarah Wiethoff
- Brian T Wilson
- Gidon Winter
- Christopher Wragg
- Simon Pope
- Simon J H Heales
- Deborah Morrogh
- Deciphering Developmental Disorders Study
- Alan Pittman
- Lucinda Carr
- Belén Pérez-Dueñas
- Jean-Pierre Lin
- André Reis
- William A. Gahl
- Camilo Toro
- Kailash P. Bhatia
- Nicholas W. Wood
- Erik-Jan Kamsteeg
- Wui K Chong
- Paul Gissen
- Maya Topf
- Russell C. Dale
- Jonathan R. Chubb
- F. Lucy Raymond
- Manju A. Kurian
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Citations (2) - 2017 Nature Genetics
- Emma M. Jenkinson
- Mathieu P. Rodero
- Paul R. Kasher
- Carolina Uggenti
- Anthony Oojageer
- Laurence C Goosey
- Yoann Rose
- Christopher J. Kershaw
- Jill Urquhart
- Simon G. Williams
- Sanjeev S. Bhaskar
- James O'Sullivan
- Gabriela M. Baerlocher
- Monika Haubitz
- Geraldine Aubert
- Kristin Baranano
- Angela Barnicoat
- Roberta Battini
- Andrea Berger
- Edward Blair
- Janice E Brunstrom-Hernandez
- Johannes A Buckard
- David Cassiman
- Rosaline Caumes
- Duccio Maria Cordelli
- Liesbeth De Waele
- Alex J. Fay
- Patrick Ferreira
- Nicholas A. Fletcher
- Alan Fryer
- Himanshu Goel
- Cheryl A. Hemingway
- Marco Henneke
- Imelda Hughes
- Rosalind J Jefferson
- Ram Kumar
- Lieven Lagae
- Pierre Landrieu
- Charles Marques Lourenço
- Timothy J Malpas
- Sarju G. Mehta
- Imke Metz
- Sakkubai Naidu
- Katrin Õunap
- Axel Panzer
- Prab Prabhakar
- Gerardine Quaghebeur
- Raphael Schiffmann
- Elliott H. Sherr
- Kanaga R Sinnathuray
- Calvin Soh
- Helen Stewart
- John Stone
- Hilde Van Esch
- Christine E G Van Mol
- Adeline Vanderver
- Emma Wakeling
- Andrea Whitney
- Graham D. Pavitt
- Sam Griffiths-Jones
- Gillian I. Rice
- Patrick Revy
- Marjo S. van der Knaap
- John H. Livingston
- Raymond T. OKeefe
- Yanick J. Crow
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Citations (0) -
- Madeleine Tooley
- Danielle C. Lynch
- Francois P. Bernier
- Jillian S. Parboosingh
- Elizabeth J. Bhoj
- Elaine H. Zackai
- Alistair Calder
- Nobue Itasaki
- Emma Wakeling
- Richard H. Scott
- M Lees
- Jill Clayton-Smith
- Moira Blyth
- Jenny Morton
- Debbie Shears
- Usha Kini
- Tessa Homfray
- Angus John Clarke
- Angela Barnicoat
- Colin Wallis
- Rebecca Hewitson
- Amaka C. Offiah
- Michael Saunders
- Simon Langton Hewer
- Tom Hilliard
- Peter J. Davis
- Sarah Smithson
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Citations (14) - 2016 bioRxiv
- Jeremy F. McRae
- Stephen Clayton
- Tomas W Fitzgerald
- Joanna Kaplanis
- Elena Prigmore
- Diana Rajan
- AlejandroW 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
- B 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 Cooper
- Helen Cox
- Lara Cresswell
- Gareth Cross
- Yanick J. Crow
- Mariella DAlessandro
- Tabib Dabir
- Rosemarie Davidson
- Sally 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
- AndrewW Fry
- Alan Fryer
- Carol Gardiner
- Lorraine Gaunt
- Neeti Ghali
- Richard J. Gibbons
- Harinder Gill
- Judith A. Goodship
- David Goudie
- Emma Gray
- Andrew Green
- Philip Greene
- L Greenhalgh
- Susan M. Gribble
- Lucy Harrison
- Victoria Harrison
- Rose Hawkins
- Liu He
- Stephen W. Hellens
- Alex Henderson
- Sarah Hewitt
- Lucy Hildyard
- Emma Hobson
- Simon Holden
- Muriel Holder
- Susan E. Holder
- Georgina Hollingsworth
- Tessa Homfray
- Mervyn Humphreys
- Jane A. Hurst
- Ben Hutton
- Stuart Ingram
- Melita Irving
- Lily Islam
- Andrew M. Jackson
- J 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
- J Morton
- Hood Mugalaasi
- Victoria Murday
- Helen Murphy
- Swati Naik
- Andrea H. Németh
- Louise Nevitt
- Ruth Newbury-Ecob
- Andrew Norman
- Rosie OShea
- Caroline Mackie Ogilvie
- Kai Ren Ong
- Soo-Mi Park
- Michael Parker
- Chirag J. Patel
- Joan Paterson
- Stewart Payne
- Daniel Perrett
- Julie Phipps
- D.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
- D. Rice
- Leema Robert
- E. Roberts
- Jonathan Roberts
- Paul Roberts
- Gillian Roberts
- Alison Ross
- Elisabeth Rosser
- Anand Saggar
- Shalaka Samant
- Julian R. Sampson
- Richard Sandford
- Ajoy Sarkar
- Susann Schweiger
- Richard H. Scott
- Ingrid Scurr
- Ann Selby
- A 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 L. S. 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 Fitzpatrick
- Jeffrey C. Barrett
- Matthew E. Hurles
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Citations (19) - 2016 bioRxiv
- Jeremy F. McRae
- Stephen Clayton
- Tomas 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 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 Cooper
- Helen Cox
- Lara Cresswell
- Gareth Cross
- Yanick J. 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 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 J. 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 Hurst
- Ben Hutton
- Stuart Ingram
- Melita Irving
- Lily Islam
- Andrew M. 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 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 Németh
- Louise Nevitt
- Ruth Newbury-Ecob
- Andrew Norman
- Rosie O'Shea
- Caroline Mackie Ogilvie
- Kai-ren Ong
- Soo-Mi Park
- Michael Parker
- Chirag J. 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 Roy Sampson
- Richard 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 Smithson
- Linda Sneddon
- Miranda Splitt
- Miranda Squires
- Fiona Stewart
- Helen Stewart
- Volker Straub
- Mohnish Suri
- Vivienne Sutton
- G. J. 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 E. Turner
- Peter D. 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 C. Wilson
- Geoff Woods
- Christopher Wragg
- Michael J. Wright
- Laura M. Yates
- Michael Yau
- Chris Nellaker
- Helen V. Firth
- Caroline F. Wright
- David Fitzpatrick
- Jeffrey C. Barrett
- Matthew E. Hurles
Show All- Source
- Cite
- Save
Citations (42) -
- Sarju G. Mehta
- Gunnar Houge
- Dorien Haesen
- Lelm Vissers
- Angela Barnicoat
- Trevor Cole
- Helen Cox
- Shelagh Joss
- Esther Kinning
- Mcconnell
- Shane McKee
- Jenny Morton
- Mj Parker
- Sue M. Price
- Michael J. Wright
- Margo Whiteford
- Julie Vogt
- Tjitske Kleefstra
- Marjolein H. Willemsen
- Mrf Reijnders
- Siren Berland
- Evan E. Eichler
- A Hoischen
- Rita Holdhus
- Vidar M. Steen
- Stein Ove Døskeland
- Matthew E. Hurles
- FitzPatrick
- Veerle Janssens
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Citations (0) -
- Margot R.F. Reijnders
- Vasilios Zachariadis
- Brooke Latour
- Lachlan A. Jolly
- G.M.S. Mancini
- Rolph Pfundt
- Ka Man Wu
- Conny M. A. van Ravenswaaij-Arts
- Hermine E. Veenstra-Knol
- Britt-Marie Anderlid
- Stephen A. Wood
- Sau Wai Cheung
- Angela Barnicoat
- Frank J. Probst
- Pilar L. Magoulas
- Alice S. Brooks
- Helena Malmgren
- Arja Harila-Saari
- Carlo M. Marcelis
- Maaike Vreeburg
- Emma Hobson
- V. Reid Sutton
- Zornitza Stark
- Julie Vogt
- Nicola S. Cooper
- Jiin Ying Lim
- Sue Price
- Angeline Hwei Meeng Lai
- Deepti Domingo
- Bruno Reversade
- Jozef Gecz
- Christian Gilissen
- Han G. Brunner
- Usha Kini
- Ronald Roepman
- Ann Nordgren
- Tjitske Kleefstra
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Citations (53) - 2014 Pediatric NephrologyShow All
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