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2024
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Papers (125)
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- Joery den Hoed
- Elke de Boer
- Norine Voisin
- Alexander J. M. Dingemans
- Nicolas Guex
- Laurens Wiel
- Christoffer Nellåker
- S. M. Amudhavalli
- Siddharth Banka
- Frederique S. Bena
- Bruria Ben-Zeev
- Vincent R. Bonagura
- Ange-Line Bruel
- Theresa Brunet
- Han G. Brunner
- Hui B. Chew
- Jacqueline Chrast
- Loreta Cimbalistiene
- Hilary Coon
- Emmanuèlle C. Délot
- Florence Demurger
- Anne-Sophie Denommé-Pichon
- Christel Depienne
- Dian Donnai
- David A. Dyment
- Orly Elpeleg
- Laurence Faivre
- Christian Gilissen
- Leslie Granger
- Benjamin Haber
- Yasuo Hachiya
- Yasmin Hamzavi Abedi
- Jennifer Hanebeck
- Jayne Y. Hehir-Kwa
- Brooke Horist
- Toshiyuki Itai
- Adam Jackson
- Rosalyn Jewell
- Kelly L. Jones
- Shelagh Joss
- Hirofumi Kashii
- Mitsuhiro Kato
- Anja A Kattentidt-Mouravieva
- Fernando Kok
- Urania Kotzaeridou
- Vidya Krishnamurthy
- Vaidutis Kučinskas
- Alma Kuechler
- Alinoe Lavillaureix
- Pengfei Liu
- Linda Manwaring
- Naomichi Matsumoto
- Benoît Mazel
- Kirsty McWalter
- Vardiella Meiner
- Mohamad A. Mikati
- Satoko Miyatake
- Takeshi Mizuguchi
- Lip H. Moey
- Shehla Mohammed
- Hagar Mor-Shaked
- Hayley S. Mountford
- Ruth Newbury-Ecob
- Sylvie Odent
- Laura Elena Orec
- Matthew Osmond
- Timothy Blake Palculict
- Michael W. Parker
- Andrea K. Petersen
- Rolph Pfundt
- Eglė Preikšaitienė
- Kelly Radtke
- Emmanuelle Ranza
- Jill A. Rosenfeld
- Teresa Santiago-Sim
- Caitlin Schwager
- Margje Sinnema
- Lot Snijders Blok
- Rebecca C. Spillmann
- Alexander P. A. Stegmann
- Isabelle Thiffault
- Linh Tran
- Adi Vaknin-Dembinsky
- Juliana H. Vedovato-dos-Santos
- Samantha A. Schrier Vergano
- Eric Vilain
- Antonio Vitobello
- Matias Wagner
- Androu Waheeb
- Marcia C. Willing
- Britton Zuccarelli
- Usha Kini
- Dianne F. Newbury
- Tjitske Kleefstra
- Alexandre Reymond
- Simon E. Fisher
- Lisenka E.L.M. Vissers
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Citations (6) -
- Meena Balasubramanian
- Alexander J. M. Dingemans
- Shadi Albaba
- Ruth Richardson
- Thabo M. Yates
- Helen Cox
- Sofia Douzgou
- Ruth Armstrong
- Francis H Sansbury
- Katherine B. Burke
- Andrew E. Fry
- N Ragge
- Saba Sharif
- Alison Foster
- Annachiara De Sandre-Giovannoli
- Sahar Elouej
- Pradeep C. Vasudevan
- Sahar Mansour
- Kate Wilson
- Helen Stewart
- Solveig Heide
- Caroline Nava
- Boris Keren
- Serwet Demirdas
- Alice S. Brooks
- Marie Vincent
- Bertrand Isidor
- Sébastien Küry
- Meyke I. Schouten
- Erika Leenders
- Wendy K. Chung
- Arie van Haeringen
- Thomas Scheffner
- François-Guillaume Debray
- Susan M. White
- Maria Irene Valenzuela Palafoll
- Rolph Pfundt
- Ruth Newbury-Ecob
- Tjitske Kleefstra
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Citations (1) - 2020 Neurology GeneticsShow All
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Citations (0) - 2020 bioRxiv
- J. den Hoed
- E de Boer
- Norine Voisin
- Ajm Dingemans
- Nicolas Guex
- Laurens Wiel
- Christoffer Nellåker
- SM Amudhavalli
- Siddharth Banka
- FS Bena
- B. Ben Zeev
- VR Bonagura
- A-L Bruel
- T Brunet
- Han G. Brunner
- HG Chew
- Jacqueline Chrast
- L Cimbalistien
- Hillary Coon
- EC Delot
- F. Démurger
- A-S Denomme-Pichon
- Christel Depienne
- Dian Donnai
- Da Dyment
- Orly Elpeleg
- Laurence Faivre
- Christian Gilissen
- L Granger
- B Haber
- Y Hachiya
- Y Hamzavi Abedi
- J Hanebeck
- JY Hehir-Kwa
- B Horist
- T Itai
- A. Jackson
- R Jewell
- KL Jones
- S. Joss
- H. Kashii
- M. Kato
- AA Kattentidt-Mouravieva
- Fernando Kok
- U Kotzaeridou
- V. Krishnamurthy
- Vaidutis Kučinskas
- A Kuechler
- A Lavillaureix
- Pengfei Liu
- L Manwaring
- Naomichi Matsumoto
- B. Mazel
- Kirsty McWalter
- V. Meiner
- MA Mikati
- Satoko Miyatake
- Takeshi Mizuguchi
- LH Moey
- Shehla Mohammed
- Hagar Mor-Shaked
- Hayley S. Mountford
- Ruth Newbury-Ecob
- S Odent
- L Orec
- M. Osmond
- TB Palculict
- M Parker
- A Petersen
- R. Pfundt
- E Preiksaitien
- K Radtke
- E. Ranza
- Jill A. Rosenfeld
- T. Santiago-Sim
- C Schwager
- Margje Sinnema
- L Snijders Blok
- Rebecca C. Spillmann
- Apa Stegmann
- Isabelle Thiffault
- L Tran
- A. Vaknin-Dembinsky
- JH Vedovato-dos-Santos
- SA Vergano
- Eric Vilain
- A Vitobello
- Matias Wagner
- A Waheeb
- M Willing
- B Zuccarelli
- Usha Kini
- Dianne F. Newbury
- Tjitske Kleefstra
- Alexandre Reymond
- Simon E. Fisher
- Lelm Vissers
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Citations (1) - 2020 BrainShow All
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Citations (12) -
- Anna Durkin
- Shadi Albaba
- Andrew E. Fry
- Jenny Morton
- Andrew G.L. Douglas
- Ana Beleza
- Denise Williams
- Catharina M L Volker-Touw
- Sally Ann Lynch
- Natalie Canham
- Virginia E. Clowes
- Volker Straub
- Katherine Lachlan
- Frances M. Gibbon
- Mayy El Gamal
- Vinod Varghese
- Michael Parker
- Ruth Newbury-Ecob
- Peter D Turnpenny
- Alice Gardham
- Neeti Ghali
- Meena Balasubramanian
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Citations (6) - 2020 Genetics in Medicine
- Joanna Kennedy
- David Goudie
- Edward Blair
- Kate Chandler
- Shelagh Joss
- Victoria McKay
- Andrew Green
- Ruth Armstrong
- Melissa Lees
- Benjamin Kamien
- Bruce Hopper
- Tiong Yang Tan
- Patrick Yap
- Zornitza Stark
- Nobuhiko Okamoto
- Noriko Miyake
- Naomichi Matsumoto
- Ellen F. Macnamara
- Jennifer L. Murphy
- Elizabeth M. McCormick
- Hakon Hakonarson
- Marni J. Falk
- Dong Li
- Patrick R. Blackburn
- Eric W. Klee
- Dusica Babovic-Vuksanovic
- Susan Schelley
- Louanne Hudgins
- Sarina G. Kant
- Bertrand Isidor
- Benjamin Cogné
- Kimberley Bradbury
- Mark Williams
- Chirag Patel
- Helen Heussler
- Celia Duff-Farrier
- Phillis Lakeman
- Ingrid Scurr
- Usha Kini
- Mariet W. Elting
- Margot R.F. Reijnders
- Janneke H. M. Schuurs-Hoeijmakers
- Mohamed Wafik
- Anne Blomhoff
- Claudia A. L. Ruivenkamp
- Esther Nibbeling
- Alexander J. M. Dingemans
- Emilie D. Douine
- Stanley F. Nelson
- Ddd Study
- Maja Hempel
- Tatjana Bierhals
- Davor Lessel
- Jessika Johannsen
- Valerie A. Arboleda
- Ruth Newbury-Ecob
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Citations (0) -
- Reham Alharatani
- Athina Ververi
- Ana Beleza-Meireles
- Weizhen Ji
- Emily K. Mis
- Quinten T Patterson
- John N. Griffin
- Nabina Bhujel
- Caitlin A. Chang
- Abhijit Dixit
- Monica Konstantino
- Christopher Healy
- Sumayyah Hannan
- Natsuko Neo
- Alex Cash
- Dong Li
- Elizabeth J. Bhoj
- Elaine H. Zackai
- Ruth Cleaver
- Diana Baralle
- Meriel McEntagart
- Ruth Newbury-Ecob
- Richard H. Scott
- Jane A. Hurst
- Ping-Yee Billie Au
- Marie Therese Hosey
- Mustafa K. Khokha
- Denise K. Marciano
- Saquib A. Lakhani
- Karen J. Liu
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Citations (6) - Show All
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Citations (6) -
- 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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