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Papers (11)
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- 2020 Brain
- Laura Cif
- Diane Demailly
- Jean-Pierre Lin
- Katy E.S. Barwick
- Mario Sa
- Lucia Abela
- Sony Malhotra
- Wui K Chong
- Dora Steel
- Alba Sanchis-Juan
- Adeline Ngoh
- Natalie Trump
- Esther Meyer
- Xavier Vasques
- Julia Rankin
- Meredith W Allain
- Carolyn D. Applegate
- Sanaz Attaripour Isfahani
- Julien Baleine
- Bettina Balint
- Jennifer A. Bassetti
- Emma L. Baple
- Kailash P. Bhatia
- Catherine Blanchet
- Lydie Burglen
- Gilles Cambonie
- Emilie Chan-Seng
- Sandra Chantot-Bastaraud
- Fabienne Cyprien
- Christine Coubes
- Vincent dHardemare
- Deciphering Developmental Disorders Study
- Asif Doja
- Nathalie Dorison
- Diane Doummar
- Marisela E Dy-Hollins
- Ellyn Farrelly
- David Fitzpatrick
- Conor Fearon
- Elizabeth L. Fieg
- Brent L. Fogel
- Eva B. Forman
- Rachel Fox
- William A. Gahl
- Serena Galosi
- Victoria Gonzalez
- Tracey D Graves
- Allison Gregory
- Mark Hallett
- Harutomo Hasegawa
- Susan J. Hayflick
- Ada Hamosh
- Marie Hully
- Sandra Jansen
- Suh Young Jeong
- Joel B. Krier
- Sidney Krystal
- Kishore R. Kumar
- Chloé Laurencin
- Hane Lee
- Gaetan Lesca
- Laurence Lion-François
- Timothy Lynch
- Neil Mahant
- Julian A. Martinez-Agosto
- Christophe Milési
- Kelly A. Mills
- Michel Mondain
- Hugo Morales-Briceño
- Nihr BioResource
- John R. Østergaard
- Swasti Pal
- Juan C. Pallais
- Frederique Pavillard
- Pierre-François Perrigault
- Andrea K Petersen
- Gustavo Polo
- Gaëtan Poulen
- Tuula Rinne
- Thomas Roujeau
- Caleb Rogers
- Agathe Roubertie
- Michelle Sahagian
- Elise Schaefer
- Laila Selim
- Richard Selway
- Nutan Sharma
- Rebecca Signer
- Ariane Soldatos
- David A. Stevenson
- Fiona Stewart
- Michel Tchan
- Ishwar C. Verma
- Bert B.A. de Vries
- Jenny L. Wilson
- Derek Wong
- Raghda Zaitoun
- Dolly Zhen
- Anna Znaczko
- Russell C. Dale
- Claudio M. de Gusmao
- Jennifer Friedman
- Victor S.C. Fung
- Mary D. King
- Shekeeb S. Mohammad
- Luis Rohena
- Jeff L. Waugh
- Camilo Toro
- F. Lucy Raymond
- Maya Topf
- Philippe Coubes
- Kathleen M. Gorman
- Manju A. Kurian
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Citations (12) - Show All
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Citations (2) - 2017 Brain
- Diana Alcantara
- Andrew E. Timms
- Karen W. Gripp
- Laura Baker
- Kaylee Park
- Sarah A. Collins
- Chi Cheng
- Fiona Stewart
- Sarju G. Mehta
- Anand Saggar
- László Sztriha
- Melinda Zombor
- Oana Caluseriu
- Ronit Mesterman
- Margot I. Van Allen
- Adeline Jacquinet
- Sofia Ygberg
- Jonathan A. Bernstein
- Aaron M. Wenger
- Harendra Guturu
- Gill Bejerano
- Natalia Gomez-Ospina
- Anna Lehman
- Enrico Alfei
- Chiara Pantaleoni
- Valerio Conti
- Renzo Guerrini
- Ute Moog
- John M. Graham
- Robert F. Hevner
- William B. Dobyns
- Mark O’Driscoll
- Ghayda M. Mirzaa
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Citations (59) - 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 JCI insight
- Ghayda M. Mirzaa
- Andrew E. Timms
- Valerio Conti
- Evan A. Boyle
- Katta M. Girisha
- Beth Martin
- Martin Kircher
- Carissa Olds
- Jane Juusola
- Sarah Collins
- Kaylee Park
- Melissa T. Carter
- Ian A. Glass
- Inge Krägeloh-Mann
- David Chitayat
- Aditi Shah Parikh
- Rachael Bradshaw
- Erin Torti
- Stephen R. Braddock
- Leah W. Burke
- Sondhya Ghedia
- Mark J. Stephan
- Fiona Stewart
- Chitra Prasad
- Melanie Napier
- Sulagna C. Saitta
- Rachel Straussberg
- Michael T. Gabbett
- Bridget C O'Connor
- Catherine E. Keegan
- Lim Jiin Yin
- Angeline Hwei Meeng Lai
- Nicole Martin
- Margaret L. McKinnon
- Marie-Claude Addor
- Luigi Boccuto
- Charles E. Schwartz
- Agustina Lanoel
- Robert Conway
- Koenraad Devriendt
- Katrina Tatton-Brown
- Mary Ella M Pierpont
- Michael Painter
- Lisa Worgan
- James Reggin
- Raoul C. M. Hennekam
- Karen Tsuchiya
- Colin C. Pritchard
- Mariana Aracena
- Karen W. Gripp
- Maria R. Cordisco
- Hilde Van Esch
- Livia Garavelli
- Cynthia J. Curry
- Anne Goriely
- Hulya Kayserilli
- Jay Shendure
- John M. Graham
- Renzo Guerrini
- William B. Dobyns
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Citations (87) - Show All
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Citations (38) - 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
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Citations (42) - Show All
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Citations (1) - 2004 Human Mutation
- Mitsuhiro Kato
- Soma Das
- Kristin Petras
- Kunio Kitamura
- Ken-ichirou Morohashi
- Diane Abuelo
- Mason Barr
- Dominique Bonneau
- Angela F. Brady
- Nancy J. Carpenter
- Karen L. Cipero
- Francesco Frisone
- Takayuki Fukuda
- Renzo Guerrini
- Eri Iida
- Masayuki Itoh
- Amy Feldman Lewanda
- Yukiko Nanba
- Akira Oka
- Virginia K. Proud
- Pascale Saugier-Veber
- Susan Schelley
- Angelo Selicorni
- Rachel Shaner
- Margherita Silengo
- Fiona Stewart
- Noriyuki Sugiyama
- Jun Toyama
- Annick Toutain
- Ana Lía Vargas
- Masako Yanazawa
- Elaine H. Zackai
- William B. Dobyns
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Citations (266) -
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Citations (50)
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