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Papers (17)
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- 2021 medRxiv
- Angela Peron
- Felice DArco
- Kimberly A. Aldinger
- Constance Smith-Hicks
- Christiane Zweier
- Gyri Aasland Gradek
- Kimberley Bradbury
- Andrea Accogli
- Erica F. Andersen
- Ping-Yee Billie Au
- Roberta Battini
- Daniah Beleford
- Lynne M. Bird
- Arjan Bouman
- Ange-Line Bruel
- Øyvind L. Busk
- Philippe M. Campeau
- Valeria Capra
- Colleen Carlston
- Jenny Carmichael
- Anna Chassevent
- Jill Clayton-Smith
- Michael J. Bamshad
- Dawn L. Earl
- Laurence Faivre
- Christophe Philippe
- Patrick Ferrerira
- Luitgard Graul-Neumann
- Mary J. Green
- Darrah N. Haffner
- Parthiv Haldipur
- Suhair Hanna
- Gunnar Houge
- Jane A. Hurst
- Cornelia Kraus
- Birgit Elisabeth Kristiansen
- James Lespinasse
- Karen J. Low
- Sally Ann Lynch
- Sofia Maia
- Rong Mao
- Ruta Marcinkute
- Catherine Ward Melver
- Kimberly McDonald
- Tara Montgomery
- Manuela Morleo
- Constance Motter
- Amanda Openshaw
- Janice C. Palumbos
- Aditi Shah Parikh
- Richard Person
- Megha Desai
- Juliette Piard
- Rolph Pfundt
- Marcello Scala
- Margaux Serey-Gaut
- Anne Slavotinek
- Mohnish Suri
- Claire E. Turner
- Tatiana Tvrdik
- Karin Weiss
- Ingrid M. Wentzensen
- Marcella Zollino
- Telethon Undiagnosed Disease Program
- Bert B.A. de Vries
- François Guillemot
- William B. Dobyns
- David Viskochil
- Cristina Dias
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Citations (1) -
- Paul A. Mulder
- I. D. C. van Balkom
- A M Landlust
- Manuela Priolo
- Leonie A. Menke
- I H Acero
- Fowzan S. Alkuraya
- P. Arias
- Laura Bernardini
- Emilia K. Bijlsma
- Trevor Cole
- Christine Coubes
- I. Dapia
- Sally Davies
- N. Di Donato
- Nursel Elçioğlu
- Jill A. Fahrner
- Alison Foster
- N.G. Gonzalez
- I. Huber
- Maria Iascone
- A-S Kaiser
- Arveen Kamath
- Kreepa Kooblall
- Pablo Lapunzina
- Jan Liebelt
- Sally Ann Lynch
- Saskia M. Maas
- C. Mammi
- Inge B. Mathijssen
- Shane McKee
- G M Mirzaa
- Tara Montgomery
- Dorothée Neubauer
- T. E. Neumann
- L Pintomalli
- Maria Antonietta Pisanti
- Astrid S. Plomp
- Sue Price
- Claire G. Salter
- Fernando Santos-Simarro
- Pierre Sarda
- Denny Schanze
- Mabel Segovia
- Charles Shaw-Smith
- Sarah F. Smithson
- Mohnish Suri
- K Tatton-Brown
- Jair Tenorio
- Rajesh V. Thakker
- Rita Valdez
- A. van Haeringen
- J.M. van Hagen
- Martin Zenker
- M Zollino
- W W Dunn
- S Piening
- Raoul C. M. Hennekam
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Citations (0) -
- Stuart Aitken
- Helen V. Firth
- Jeremy F. McRae
- Mihail Halachev
- Usha Kini
- Michael Parker
- Melissa Lees
- Katherine Lachlan
- Ajoy Sarkar
- Shelagh Joss
- Miranda Splitt
- Shane McKee
- Andrea H. Németh
- Richard H. Scott
- Caroline F. Wright
- Joseph A. Marsh
- Matthew E. Hurles
- David Fitzpatrick
- Tomas Fitzgerald
- Sebastian S. Gerety
- Wendy D Jones
- M. van Kogelenberg
- Daniel A. King
- J. McRae
- Katherine I. Morley
- Vijaya Parthiban
- Saeed Al-Turki
- Kirsty Ambridge
- Daniel M Barrett
- Tanya Bayzetinova
- Stephen Clayton
- Eve L. Coomber
- Susan M. Gribble
- Peter B. Jones
- Netravathi Krishnappa
- Laura E Mason
- Anna Middleton
- Raymond D. Miller
- Elena Prigmore
- Diana Rajan
- Alejandro Sifrim
- Adrian Tivey
- M. Ahmed
- Nadia Akawi
- Robert Andrews
- U. Anjum
- Hayley Archer
- Ruth Armstrong
- Meena Balasubramanian
- Ruby Banerjee
- D. Barelle
- P. Batstone
- D. Baty
- Christopher P. Bennett
- Jonathan Berg
- Birgitta Bernhard
- A. P. Bevan
- Edward Blair
- Moira Blyth
- D. Bohanna
- L. Bourdon
- David Bourn
- Angela F. Brady
- Eugene Bragin
- Carole Brewer
- L. Brueton
- K. Brunstrom
- Suzannah J. Bumpstead
- David J. Bunyan
- John Burn
- John Burton
- N Canham
- Bruce Castle
- Kate Chandler
- S Clasper
- Jill Clayton-Smith
- Trevor Cole
- A. Collins
- Morag N. Collinson
- Fiona Connell
- Nicholas J. Cooper
- Helen Cox
- L. Cresswell
- G. Cross
- Yanick J. Crow
- P.M. D’Alessandro
- Tabib Dabir
- Rosemarie Davidson
- Stuart J. Davies
- John Dean
- C. Deshpande
- G. Devlin
- Abhijit Dixit
- Anna F. Dominiczak
- C. Donnelly
- Deirdre E. Donnelly
- Angela E. Douglas
- A. C. Duncan
- Jacqueline Eason
- Sarah Edkins
- Sian Ellard
- Peter R. Ellis
- Frances Elmslie
- Kathryn L. Evans
- S. Everest
- T. Fendick
- Richard Fisher
- Frances Flinter
- Nicola Foulds
- Alan Fryer
- B. Fu
- Carol Gardiner
- Lorraine Gaunt
- Neeti Ghali
- Richard Gibbons
- S. L. Gomes Pereira
- Judith A. Goodship
- David Goudie
- Emma Gray
- P Greene
- Lynn Greenhalgh
- L. Harrison
- R. Hawkins
- Stephen W. Hellens
- Alistair P. Henderson
- Emma Hobson
- Simon Holden
- Susan E. Holder
- G. Hollingsworth
- Tessa Homfray
- Mervyn Humphreys
- Jane A. Hurst
- S Ingram
- Melita Irving
- J Jarvis
- Lucy Jenkins
- Diana Johnson
- David Jones
- E.Y. Jones
- Dragana Josifova
- S. Joss
- B. Kaemba
- S. Kazembe
- B. Kerr
- U. Kini
- Esther Kinning
- Gail Kirby
- C. Kirk
- Emma Kivuva
- Alison Kraus
- Dhavendra Kumar
- K. Lachlan
- Wayne Lam
- Anne K. Lampe
- Caroline Langman
- M Lees
- D. Lím
- G. Lowther
- Sally Ann Lynch
- Alex Magee
- Er Maher
- Sahar Mansour
- K. Marks
- Katherine Martin
- U. Maye
- Emma McCann
- Vivienne McConnell
- Meriel McEntagart
- R McGowan
- K. McKay
- S. McKee
- Dominic J. McMullan
- Susan E. McNerlan
- Sarju G. Mehta
- Kay Metcalfe
- E. Miles
- Shehla Mohammed
- Tara Montgomery
- David Moore
- Sian M. Morgan
- Andrew D. Morris
- Jenny Morton
- Hood Mugalaasi
- V. Murday
- L. Nevitt
- Ruth Newbury-Ecob
- A.R. Norman
- Rosie O’Shea
- Caroline Mackie Ogilvie
- Soo-Mi Park
- M.J. Parker
- Chirag J. Patel
- Joan Paterson
- S Payne
- Julie M Phipps
- Daniela T. Pilz
- David J. Porteous
- N. Pratt
- Katrina Prescott
- Susan Price
- A. Pridham
- A. Proctor
- H. Purnell
- Nicola K. Ragge
- Julia Rankin
- Lucy Raymond
- Daniel L Rice
- Leema Robert
- E. Roberts
- Gillian Roberts
- Jonathan Roberts
- P. Roberts
- Allyson Ross
- Elizabeth C. Rosser
- Anand Saggar
- S Samant
- Richard N. Sandford
- A. Sarkar
- Susann Schweiger
- Carol Scott
- R. Scott
- A. Selby
- A Seller
- C. Sequeira
- Nora Shannon
- S. Sharif
- Charles Shaw-Smith
- Emma Shearing
- Deborah J. Shears
- Ingrid Simonic
- D. Simpkin
- R. Singzon
- Zara Skitt
- Andrew Smith
- Blair H. Smith
- Kath Smith
- Sarah F. Smithson
- Linda Sneddon
- M. Splitt
- M. Squires
- Fiona Stewart
- Helen Stewart
- Mohnish Suri
- Vernon R. Sutton
- Ganesh J. Swaminathan
- Elizabeth Sweeney
- Katrina Tatton-Brown
- Catherine Taylor
- Robert W. Taylor
- M Tein
- I. K. Temple
- J. Thomson
- John Tolmie
- A. Torokwa
- Becky Treacy
- Claire E. Turner
- Peter D. Turnpenny
- Carolyn Tysoe
- Anthony Vandersteen
- Pradeep C. Vasudevan
- Julie Vogt
- Emma L. Wakeling
- D. Walker
- J Waters
- A. Weber
- Diana Wellesley
- Margo L. Whiteford
- Sara Widaa
- Stephen A. Wilcox
- Denise Williams
- Nicholas Williams
- Geoff Woods
- Christopher Wragg
- Michael Wright
- Fengtang Yang
- M. Yau
- Nigel P. Carter
- M. Parker
- H.V. Firth
- D.R. FitzPatrick
- C.F. Wright
- Jeffrey C. Barrett
- M.E. Hurles
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Citations (2) - 2018 Human Mutation
- Manuela Priolo
- Denny Schanze
- Katrin Tatton-Brown
- Paul A. Mulder
- Jair Tenorio
- Kreepa Kooblall
- Inés Hernández Acero
- Fowzan S. Alkuraya
- Pedro Arias
- Laura Bernardini
- Emilia K. Bijlsma
- Trevor Cole
- Christine Coubes
- Irene Dapía
- Sally Davies
- Nataliya Di Donato
- Nursel Elçioğlu
- Jill Ann Fahrner
- Alison Foster
- Noelia García González
- Ilka Huber
- Maria Iascone
- Ann Sophie Kaiser
- Arveen Kamath
- Jan Liebelt
- Sally Ann Lynch
- Saskia M. Maas
- Corrado Mammì
- Inge B. Mathijssen
- Shane McKee
- Leonie A. Menke
- Ghayda M. Mirzaa
- Tara Montgomery
- Dorothée Neubauer
- Thomas E. Neumann
- Letizia Pintomalli
- Maria Antonietta Pisanti
- Astrid S. Plomp
- Sue Price
- Claire G. Salter
- Fernando Santos-Simarro
- Pierre Sarda
- Mabel Segovia
- Charles Shaw-Smith
- Sarah Smithson
- Mohnish Suri
- Rita Maria Valdez
- Arie van Haeringen
- Johanna M. van Hagen
- Marcela Zollino
- Pablo Lapunzina
- Rajesh V. Thakker
- Martin Zenker
- Raoul C. M. Hennekam
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Citations (21) - 2018 Neurology
- Amy McTague
- Umesh Nair
- Sony Malhotra
- Esther Meyer
- Natalie Trump
- Elena V. Gazina
- Apostolos Papandreou
- Adeline Ngoh
- Sally Ackermann
- Gautam Ambegaonkar
- Richard Appleton
- Archana Desurkar
- Christin Eltze
- Rachel Kneen
- Ajith Kumar
- Karine Lascelles
- Tara Montgomery
- Venkateswaran Ramesh
- Rajib Samanta
- Richard H. Scott
- Jeen Tan
- William P Whitehouse
- Annapurna Poduri
- Ingrid E. Scheffer
- W K ‘Kling’ Chong
- J. Helen Cross
- Maya Topf
- Steven Petrou
- Manju A. Kurian
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Citations (53) - 2017 Epilepsia
- Joseph D. Symonds
- Shelagh Joss
- Kay Metcalfe
- Suresh Somarathi
- Jamie Cruden
- Anita M. Devlin
- Alan Donaldson
- Nataliya DiDonato
- David Fitzpatrick
- Frank J. Kaiser
- Anne K. Lampe
- Melissa Lees
- Ailsa McLellan
- Tara Montgomery
- Vivek Mundada
- Lesley Nairn
- Ajoy Sarkar
- Jens Schallner
- Jelena Pozojevic
- Ilaria Parenti
- Jeen Tan
- Peter D. Turnpenny
- William P Whitehouse
- Sameer M. Zuberi
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Citations (20) -
- Karen Low
- Tazeen Ashraf
- Natalie Canham
- Jill Clayton-Smith
- Charu Deshpande
- Alan Donaldson
- Richard Fisher
- Frances Flinter
- Nicola Foulds
- Alan Fryer
- Kate Gibson
- Ian Hayes
- Alison Hills
- Susan Holder
- Melita Irving
- Shelagh Joss
- Emma Kivuva
- Kathryn Lachlan
- Alex Magee
- Vivienne McConnell
- Meriel McEntagart
- Kay Metcalfe
- Tara Montgomery
- Ruth Newbury-Ecob
- Fiona Stewart
- Peter D. Turnpenny
- Julie Vogt
- David Fitzpatrick
- Maggie Williams
- Sarah Smithson
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Citations (43) - 2015 Nature
- Tomas Fitzgerald
- Sebastian S. Gerety
- Wendy D Jones
- M. van Kogelenberg
- Daniel A. King
- Jeremy F. McRae
- Katherine I. Morley
- Vijaya Parthiban
- Saeed Al-Turki
- Kirsty Ambridge
- Daniel M Barrett
- Tanya Bayzetinova
- Stephen Clayton
- Eve L. Coomber
- Susan M. Gribble
- Philip Jones
- Netravathi Krishnappa
- Laura E Mason
- Anna Middleton
- Raymond D. Miller
- Elena Prigmore
- Diana Rajan
- Alejandro Sifrim
- Adrian Tivey
- Munaza Ahmed
- Nadia Akawi
- Robert Andrews
- U. Anjum
- Hayley Archer
- Ruth Armstrong
- Meena Balasubramanian
- Ruby Banerjee
- Diana Baralle
- P. Batstone
- D. Baty
- Christopher Bennett
- Jonathan S. Berg
- Birgitta Bernhard
- A. P. Bevan
- Edward Blair
- Moira Blyth
- D. Bohanna
- L. Bourdon
- David Bourn
- Angie Brady
- Eugene Bragin
- Carole Brewer
- L. Brueton
- K. Brunstrom
- Suzannah Bumpstead
- David J. Bunyan
- John Burn
- John Burton
- Natalie Canham
- Bruce Castle
- Kate Chandler
- S Clasper
- Jill Clayton-Smith
- Trevor Cole
- Amanda L. Collins
- Morag N. Collinson
- Fiona Connell
- Nichola Cooper
- Helen Cox
- Lara Cresswell
- G. Cross
- Yanick J. Crow
- M. DAlessandro
- Tabib Dabir
- Rosemarie Davidson
- Sophie Davies
- John Dean
- Charulata Deshpande
- G. Devlin
- Abhijit Dixit
- Anna F. Dominiczak
- C. Donnelly
- Deirdre E. Donnelly
- Angela E. Douglas
- Ac Duncan
- Jacqueline Eason
- Sarah Edkins
- Sian Ellard
- Peter Ellis
- Frances Elmslie
- Kathryn L. Evans
- S. Everest
- T. Fendick
- Richard Fisher
- Frances Flinter
- Nicola Foulds
- Alan Fryer
- B. Fu
- Carol Gardiner
- Lorraine Gaunt
- Neeti Ghali
- Richard J. Gibbons
- S. L. Gomes Pereira
- Judith A. Goodship
- David Goudie
- Elizabeth E. Gray
- P Greene
- Lynn Greenhalgh
- L. Harrison
- R. Hawkins
- Stephen Hellens
- Alistair P. Henderson
- Emma Hobson
- Simon Holden
- Susan Holder
- Georgina Hollingsworth
- Tessa Homfray
- Mervyn Humphreys
- Jane Hurst
- Stuart Ingram
- Melita Irving
- J Jarvis
- Lucy Jenkins
- Diana Johnson
- Danielle Jones
- E. Jones
- Dragana Josifova
- Shelagh Joss
- B. Kaemba
- S. Kazembe
- Bronwyn Kerr
- Usha Kini
- Esther Kinning
- Gail Kirby
- C. Kirk
- Emma Kivuva
- Alison Kraus
- Dhavendra Kumar
- Katherine Lachlan
- Wayne Lam
- Anne K. Lampe
- Caroline Langman
- M Lees
- Derek Lim
- G. Lowther
- Sally Ann Lynch
- Alex Magee
- Eddy Maher
- Sahar Mansour
- Karen Marks
- Kate Martin
- Una Maye
- Emma McCann
- Vivienne McConnell
- Meriel McEntagart
- Ruth McGowan
- K. McKay
- Shane McKee
- Dominic McMullan
- Susan E. McNerlan
- Sarju G. Mehta
- Kay Metcalfe
- E. Miles
- Shehla Mohammed
- Tara Montgomery
- David Moore
- Sian Morgan
- Andrew D. Morris
- Jenny Morton
- Hood Mugalaasi
- Victoria Murday
- L. Nevitt
- Ruth Newbury-Ecob
- A. Norman
- Rosie O’Shea
- Caroline Mackie Ogilvie
- Soo-Mi Park
- Mj Parker
- Chirag J. Patel
- Joan Paterson
- Stewart J. Payne
- Julie Phipps
- Daniela T. Pilz
- David J. Porteous
- N. Pratt
- Katrina Prescott
- Susan Price
- A. Pridham
- A Procter
- H. Purnell
- N K Ragge
- Julia Rankin
- Lucy Raymond
- Daniel L. Rice
- Leema Robert
- Emma Roberts
- G. Roberts
- Jonathan Roberts
- P. Roberts
- Allyson Ross
- Elizabeth C. Rosser
- Anand Saggar
- S. Samant
- Richard Sandford
- Ajoy Sarkar
- Susann Schweiger
- Christiaan Scott
- Robert A. Scott
- A. Selby
- A Seller
- C. Sequeira
- Nora Shannon
- S. Sharif
- Charles Shaw-Smith
- Emma Shearing
- Deborah J. Shears
- Ingrid Simonic
- D. Simpkin
- R. Singzon
- Zara Skitt
- Andrew P. Smith
- Blair H. Smith
- Kath Smith
- Sarah Smithson
- Linda Sneddon
- M Splitt
- M. Squires
- Fiona Stewart
- Helen Stewart
- Mohnish Suri
- V. Sutton
- G. J. Swaminathan
- Elizabeth Sweeney
- Katrina Tatton-Brown
- C. Taylor
- Rohan Taylor
- Mark S.C. Tein
- I. K. Temple
- J. Thomson
- John Tolmie
- A. Torokwa
- Becky Treacy
- Claire Turner
- Peter D Turnpenny
- Carolyn Tysoe
- Anthony M. Vandersteen
- Pradeep Vasudevan
- Julie Vogt
- Emma Wakeling
- D. Walker
- J Waters
- Astrid Weber
- D. Wellesley
- Margo Whiteford
- Sara Widaa
- Stephen A. Wilcox
- Denise Williams
- Nicholas Williams
- Geoff Woods
- Christopher Wragg
- Michael J. Wright
- Fengtang Yang
- M. Yau
- Nigel P. Carter
- Michael D. Parker
- Helen V. Firth
- David Fitzpatrick
- Caroline F. Wright
- Jeffrey C. Barrett
- Matthew E. Hurles
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Citations (742) -
- Julien Thevenon
- Nicole Monnier
- Patrick Callier
- Klaus Dieterich
- Michel Françoise
- Tara Montgomery
- Susanne Kjaergaard
- Katherine Neas
- Joanne Dixon
- Thomas Lee Dahm
- Frédéric Huet
- Clémence Ragon
- Anne-Laure Mosca-Boidron
- Nathalie Marle
- Laurence Duplomb
- Marie-Hélène Aubriot-Lorton
- Francine Mugneret
- Steven A. Vokes
- Haley O. Tucker
- Joël Lunardi
- Laurence Faivre
- Pierre-Simon Jouk
- Christel Thauvin-Robinet
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Citations (5)
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