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- 2018 Genetics in Medicine
- Fabio Girardi
- Daniel R. Barnes
- Daniel Barrowdale
- Debra Frost
- Angela F. Brady
- Claire Miller
- Alex Henderson
- Alan Donaldson
- Alex Murray
- Carole Brewer
- Caroline Pottinger
- D. Gareth Evans
- Diana Eccles
- Embrace
- Fiona Lalloo
- Helen Gregory
- Jackie Cook
- Jacqueline Eason
- Julian Adlard
- Julian Barwell
- Kai Ren Ong
- Lisa Walker
- Louise Izatt
- Lucy E. Side
- M. John Kennedy
- Marc Tischkowitz
- Mark T. Rogers
- Mary Porteous
- Patrick J. Morrison
- Ros Eeles
- Rosemarie Davidson
- Katie Snape
- Douglas F. Easton
- Antonis C. Antoniou
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Citations (12) - 2018 Genetics in Medicine
- Pleuntje J. van der Sluijs
- Sandra Jansen
- Samantha A. Vergano
- Miho Adachi-Fukuda
- Yasemin Alanay
- Adila Al-Kindy
- Anwar Baban
- Allan Bayat
- Stefanie Beck-Wödl
- Katherine Berry
- Emilia K. Bijlsma
- Levinus A. Bok
- Alwin F J Brouwer
- Ineke van der Burgt
- Philippe M. Campeau
- Natalie Canham
- Krystyna H. Chrzanowska
- Yoyo W. Y. Chu
- Brain H. Y. Chung
- Karin Dahan
- Marjan De Rademaeker
- Anne Destree
- Tracy Dudding-Byth
- Rachel Earl
- Nursel H. Elcioglu
- Ellen Roy Elias
- Christina Fagerberg
- Alice Gardham
- Blanca Gener
- Erica H. Gerkes
- Ute Grasshoff
- Arie van Haeringen
- Karin R. Heitink
- Johanna C. Herkert
- Nicolette S. den Hollander
- Denise Horn
- David Hunt
- Sarina G. Kant
- Mitsuhiro Kato
- Hülya Kayserili
- Rogier Kersseboom
- Esra Kılıç
- Małgorzata Krajewska-Walasek
- Kylin Lammers
- Lone W Laulund
- Damien Lederer
- Melissa Lees
- Vanesa Lopez Gonzalez
- Saskia M. Maas
- G. M. S. Mancini
- Carlo Marcelis
- Francisco Venegas-Martínez
- Isabelle Maystadt
- Marianne McGuire
- Shane McKee
- Sarju G. Mehta
- Kay Metcalfe
- Jeff M. Milunsky
- Seiji Mizuno
- John B. Moeschler
- Christian Netzer
- Charlotte W. Ockeloen
- Barbara Oehl-Jaschkowitz
- Nobuhiko Okamoto
- Sharon N. M. Olminkhof
- Carmen Orellana
- Laurent Pasquier
- Caroline Pottinger
- Vera Riehmer
- Stephen P. Robertson
- Maian Roifman
- Caroline Rooryck
- Fabienne G Ropers
- Mónica Roselló
- Claudia A. L. Ruivenkamp
- Mahmut Şamil Sağıroğlu
- Suzanne C.E.H. Sallevelt
- Amparo Sanchis Calvo
- Pelin Özlem Simsek Kiper
- Gabriela Soares
- Lucia Solaeche
- Fatma Mujgan Sonmez
- Miranda Splitt
- Duco Steenbeek
- Alexander P. A. Stegmann
- Constance T. R. M. Stumpel
- Saori Tanabe
- Eyyup Uctepe
- G. Eda Utine
- Hermine E. Veenstra-Knol
- Sunita Venkateswaran
- Catheline Vilain
- Catherine Vincent Delorme
- Anneke T. Vulto-van Silfhout
- Patricia G. Wheeler
- Golder N. Wilson
- Louise C. Wilson
- Bernd Wollnik
- Tomoki Kosho
- Dagmar Wieczorek
- Evan E. Eichler
- Rolph Pfundt
- Bert B.A. de Vries
- Jill Clayton Smith
- Gijs W.E. Santen
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Citations (45) - 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) - 2013 Human Mutation
- Gijs W.E. Santen
- Emmelien Aten
- Anneke T. Vulto-van Silfhout
- Caroline Pottinger
- Bregje W.M. van Bon
- Ivonne J H M van Minderhout
- Ronelle Snowdowne
- Christian van der Lans
- Merel W. Boogaard
- Margot M L Linssen
- Linda Vijfhuizen
- Michiel van der Wielen
- M. J Ellen Vollebregt
- Martijn H. Breuning
- Marjolein Kriek
- Arie van Haeringen
- Johan T. den Dunnen
- Alexander Hoischen
- Jill Clayton-Smith
- Bert B.A. de Vries
- Raoul C. M. Hennekam
- Martine J. van Belzen
- Mariam Almureikhi
- Anwar Baban
- Mafalda Barbosa
- Tawfeg Ben-Omran
- Katherine Berry
- Stefania Bigoni
- Odile Boute
- Louise Brueton
- Ineke van der Burgt
- Natalie Canham
- Kate Chandler
- Krystyna H. Chrzanowska
- Amanda L. Collins
- Teresa De Toni
- John Dean
- Nicolette S. den Hollander
- Leigh Anne Flore
- Alan Fryer
- Alice Gardham
- John M. Graham
- Victoria Harrison
- Denise Horn
- Marjolijn C. Jongmans
- Dragana Josifova
- Sarina G. Kant
- Seema Kapoor
- Helen Kingston
- Usha Kini
- Tjitske Kleefstra
- Krajewska-Walasek Malgorzata Krajewska-Walasek
- Nancy Kramer
- Saskia M. Maas
- Patrícia Maciel
- M. S Mancini Grazia
- Isabelle Maystadt
- Shane McKee
- Jeff M. Milunsky
- Sheela Nampoothiri
- Ruth Newbury-Ecob
- Sarah M. Nikkel
- Michael Parker
- Luis A. Pérez Jurado
- Stephen P. Robertson
- Caroline Rooryck
- Debbie Shears
- Margherita Silengo
- Ankur Singh
- Robert Śmigiel
- Gabriela Soares
- Miranda Splitt
- Helen Stewart
- Elizabeth Sweeney
- May Tassabehji
- I. Karen Temple
- Beyhan Tüysüz
- Albertien M. van Eerde
- Catherine Vincent-Delorme
- Louise C. Wilson
- Gozde Yesil
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Citations (128)
- 1