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- 2021 Brain
- Alistair T. Pagnamenta
- Rauan Kaiyrzhanov
- Yaqun Zou
- Sahar I. Daas
- Reza Maroofian
- Sandra Donkervoort
- Natalia Dominik
- Marlen Lauffer
- Matteo P. Ferla
- Andrea Orioli
- Adam Giess
- Arianna Tucci
- Christian Beetz
- Maryam Sedghi
- Behnaz Ansari
- Rita Barresi
- Keivan Basiri
- Andrea Cortese
- Greg Elgar
- Miguel A Fernandez-Garcia
- Janice Yip
- A. Reghan Foley
- Nicholas J. Gutowski
- Heinz Jungbluth
- Saskia Lassche
- Tim Lavin
- Carlo Marcelis
- Peter Marks
- Chiara Marini-Bettolo
- Livija Medne
- Ali-Reza Moslemi
- Anna Sarkozy
- Mary M. Reilly
- Francesco Muntoni
- Francisca Millan
- Colleen C. Muraresku
- Anna C Need
- Andrea H. Németh
- Sarah B. Neuhaus
- Fiona Norwood
- Marie ODonnell
- Mary O’Driscoll
- Julia Rankin
- Sabrina W. Yum
- Zarazuela Zolkipli-Cunningham
- Isabell Brusius
- Gilbert Wunderlich
- J Ambrose
- Prabhu Arumugam
- Emma L. Baple
- Marta Bleda
- Freya Boardman-Pretty
- Jeanne M. Boissiere
- Christopher Boustred
- Helen Brittain
- Mark J. Caulfield
- Georgia C. Chan
- Clare E.H. Craig
- Louise C. Daugherty
- Anna de Burca
- Andrew Devereau
- Rebecca E. Foulger
- Tom Fowler
- Pedro Furió-Tarí
- Joanne M. Hackett
- Dina Halai
- Angela Hamblin
- Shirley Henderson
- James E. Holman
- Tim Hubbard
- Kristina Ibáñez
- Robert B. Jackson
- Louise Jones
- Dalia Kasperaviciute
- Melis Kayikci
- Athanasios Kousathanas
- Lea Lahnstein
- Kay Lawson
- Sarah E. A. Leigh
- Ivonne U.S. Leong
- Javier F. Lopez
- Fiona Maleady-Crowe
- Joanne Mason
- Ellen M. McDonagh
- Loukas Moutsianas
- Michael Mueller
- Nirupa Murugaesu
- Peter O’Donovan
- Chris A. Odhams
- Christine Patch
- Mariana Buongermino Pereira
- Daniel Perez-Gil
- Dimitris Polychronopoulos
- John Pullinger
- Tahrima Rahim
- Augusto Rendon
- Pablo Riesgo Ferreiro
- Timothy T. Rogers
- Mina Ryten
- Kevin Savage
- Kushmita Sawant
- Richard H. Scott
- Afshan Siddiq
- Alexander Sieghart
- Damian Smedley
- Katherine R. Smith
- Samuel C. Smith
- A Sosinsky
- William Spooner
- Helen E. Stevens
- Alexander Stuckey
- Razvan Sultana
- Mélanie Tanguy
- Ellen Thomas
- Simon R. Thompson
- Carolyn Tregidgo
- Emma Walsh
- Sarah A. Watters
- Matthew J. Welland
- Eleanor M. Williams
- Katarzyna Witkowska
- Suzanne M. Wood
- Magdalena Zarowiecki
- Mert Karakaya
- Brunhilde Wirth
- Khalid A. Fakhro
- Homa Tajsharghi
- Carsten G. Bönnemann
- Jenny C. Taylor
- Henry Houlden
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Citations (8) -
- Damian Smedley
- Katherine R. Smith
- Antonio Martín
- Ellen A. Thomas
- Ellen M. McDonagh
- Valentina Cipriani
- Jamie M Ellingford
- Gavin Arno
- Arianna Tucci
- Jana Vandrovcova
- Georgia Chan
- Hywel J. Williams
- Thiloka Ratnaike
- Wei Wei
- Kathleen Stirrups
- Kristina Ibáñez
- Loukas Moutsianas
- Matthias Wielscher
- Anna Need
- Michael R. Barnes
- Letizia Vestito
- James Buchanan
- Sarah Wordsworth
- Sofie Ashford
- Karola Rehmström
- Emily Li
- Gavin Fuller
- Philip Twiss
- Olivera Spasic-Boskovic
- Sally Halsall
- R. Andres Floto
- Kenneth E. S. Poole
- Annette G. Wagner
- Sarju G. Mehta
- Mark Gurnell
- Nigel Burrows
- Roger F. L. James
- Christopher Penkett
- Eleanor Dewhurst
- Stefan Gräf
- Rutendo Mapeta
- Mary Kasanicki
- Andrea Haworth
- Helen Savage
- Melanie Babcock
- Martin G. Reese
- Mark Bale
- Emma Baple
- Christopher Boustred
- Helen Brittain
- Anna de Burca
- Marta Bleda
- Andrew Devereau
- Dina Halai
- Eik Haraldsdottir
- Zerin Hyder
- Dalia Kasperaviciute
- Christine Patch
- Dimitris Polychronopoulos
- Angela Matchan
- Razvan Sultana
- Mina Ryten
- Ana L.T. Tavares
- Carolyn Tregidgo
- Clare Turnbull
- Matthew Welland
- Suzanne Wood
- Catherine Snow
- Eleanor Williams
- Sarah Leigh
- Rebecca E. Foulger
- Louise C. Daugherty
- Olivia Niblock
- Ivone U. S. Leong
- Caroline F. Wright
- James O. J. Davies
- Charles Crichton
- James Welch
- Kerrie Woods
- Lara Abulhoul
- Paul Aurora
- Detlef Bockenhauer
- Alexander Broomfield
- Maureen Cleary
- Tanya Lam
- Mehul T. Dattani
- Emma Footitt
- Vijeya Ganesan
- Stephanie Grünewald
- Sandrine Compeyrot-Lacassagne
- Francesco Muntoni
- Clarissa Pilkington
- Rosaline Quinlivan
- Nikhil Thapar
- Colin Wallis
- Lucy R. Wedderburn
- Austen Worth
- Teofila Bueser
- Cecilia Compton
- Charu Deshpande
- Hiva Fassihi
- Eshika Haque
- Louise Izatt
- Dragana Josifova
- Shehla Mohammed
- Leema Robert
- Sarah Rose
- Deborah Ruddy
- Robert Sarkany
- Genevieve Say
- Adam C. Shaw
- Agata Wolejko
- Bishoy Habib
- Gavin Burns
- Sarah Hunter
- Russell J. Grocock
- Sean Humphray
- Peter N. Robinson
- Melissa A Haendel
- Michael A. Simpson
- Siddharth Banka
- Jill Clayton-Smith
- Sofia Douzgou
- Georgina Hall
- Huw B. Thomas
- Raymond T. O'Keefe
- Michel Michaelides
- Anthony T. Moore
- Sam Malka
- Nikolas Pontikos
- Andrew C. Browning
- Volker Straub
- Grainne S. Gorman
- Rita Horvath
- Richard Quinton
- Andrew M. Schaefer
- Patrick Yu-Wai-Man
- Douglass M. Turnbull
- Robert McFarland
- Robert W. Taylor
- Emer O’Connor
- Janice Yip
- Katrina Newland
- Huw R. Morris
- James Polke
- Nicholas W. Wood
- Carolyn Campbell
- Carme Camps
- Kate Gibson
- Nils Koelling
- Tracy Lester
- Andrea H. Németh
- Claire Palles
- Smita Y. Patel
- Noémi B. A. Roy
- Arjune Sen
- John B. Taylor
- Pilar Cacheiro
- Julius O. Jacobsen
- Eleanor G. Seaby
- Val Davison
- Lyn S. Chitty
- Angela Douglas
- Kikkeri N. Naresh
- Dom Mcmullan
- Sian Ellard
- I. Karen Temple
- Andrew D Mumford
- Gill Wilson
- Phil Beales
- Maria Bitner-Glindzicz
- Graeme C.M. Black
- John R. Bradley
- Paul Brennan
- John Burn
- Patrick F. Chinnery
- Perry M. Elliott
- Frances Flinter
- Henry Houlden
- Melita Irving
- William G. Newman
- Shamima Rahman
- John A. Sayer
- Jenny C. Taylor
- Andrew R. Webster
- Andrew O.M. Wilkie
- Willem H. Ouwehand
- F. Lucy Raymond
- John Chisholm
- Susan Hill
- David Bentley
- Richard H. Scott
- Tom Fowler
- Augusto Rendon
- Mark J. Caulfield
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Citations (1) -
- Maya Chopra
- Meriel McEntagart
- Jill Clayton-Smith
- Konrad Platzer
- Anju Shukla
- Katta M. Girisha
- Anupriya Kaur
- Parneet Kaur
- Rolph Pfundt
- Hermine E. Veenstra-Knol
- Grazia M.S. Mancini
- Gerarda Cappuccio
- Nicola Brunetti-Pierri
- Fanny Kortüm
- Maja Hempel
- Jonas Denecke
- Anna Lehman
- Causes Study
- Tjitske Kleefstra
- Kyra E Stuurman
- Martina Wilke
- Michelle L. Thompson
- E. Martina Bebin
- Emilia K. Bijlsma
- Mariëtte J.V. Hoffer
- Cacha M. P. C. D. Peeters-Scholte
- Anne Slavotinek
- William A. Weiss
- Tiffany Yip
- Uğur Hodoğlugil
- Amy Whittle
- Janette DiMonda
- Juanita Neira
- Sandra Yang
- Amelia Kirby
- Hailey Pinz
- Rosan Lechner
- Frank Sleutels
- Ingo Helbig
- Sarah E. McKeown
- Katherine L. Helbig
- Rebecca Willaert
- Jane Juusola
- Jennifer Semotok
- Medard Hadonou
- John Short
- Naomi Yachelevich
- Sajel Lala
- Alberto Fernández-Jaen
- Janvier Porta Pelayo
- Chiara Klöckner
- Susanne B. Kamphausen
- Rami Abou Jamra
- Maria Arélin
- A Micheil Innes
- Anni Niskakoski
- Sam Amin
- Maggie Williams
- Julie Evans
- Sarah F. Smithson
- Damian Smedley
- Anna de Burca
- Usha Kini
- Martin B. Delatycki
- Lyndon Gallacher
- Alison Yeung
- Lynn Pais
- Michael Field
- Ellenore Martin
- Perrine Charles
- Thomas Courtin
- Boris Keren
- Maria Iascone
- Anna Cereda
- Gemma Poke
- Véronique Abadie
- Christel Chalouhi
- Padmini Parthasarathy
- Benjamin J. Halliday
- Stephen P. Robertson
- Stanislas Lyonnet
- Jeanne Amiel
- Christopher T. Gordon
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Citations (1) -
- Maya Chopra
- Meriel McEntagart
- Jill Clayton-Smith
- Konrad Platzer
- Anju Shukla
- Katta M. Girisha
- Anupriya Kaur
- Parmeet Kaur
- Rolph Pfundt
- Hermine Veenstra-Knol
- Grazia M. Mancini
- Gerarda Capuccio
- Nicola Brunetti-Pierri
- Fanny Kortüm
- Maja Hempel
- Jonas Denecke
- Anna Lehman
- Tjitske Kleefstra
- Kyra Stuurman
- Martina Wilke
- Michelle L. Thompson
- Martina Bebin
- Emilia Bijlsma
- Mariette Hoffer
- Cacha Peters-Scholte
- Anne Slavotinek
- William Weiss
- Tiffany Yip
- Ugur Hodoglugil
- Amy Whittle
- Janette DiMonda
- Juanita Neira
- Sandra Yang
- Amelia Kirby
- Hailey Pinz
- Rosan Lechner
- Frank Sleutels
- Ingo Helbig
- Sarah McKeown
- Katherine Helbig
- Naomi Yachelevich
- Rebecca Wilaert
- Jane Juusola
- Jennifer Semotok
- Médard Hadonou
- John Short
- Sajel Lala
- Alberto Fernández-Jaén
- Janvier Porta Pelayo
- Chiara Kloechner
- Susanne Kamphausen
- Rami Jamra
- Maria Arélin
- Micheil Innes
- Anni Niskakoski
- Sam Amin
- Maggie Williams
- Julie Evans
- Sarah Smithson
- Damien Smedley
- Anna de Burca
- Usha Kini
- Stanislas Lyonnet
- Jeanne Amiel
- Christopher Gordon
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Citations (0) -
- Ilse Meerschaut
- Shana De Coninck
- Wouter Steyaert
- Angela Barnicoat
- Allan Bayat
- Francesco Benedicenti
- Siren Berland
- Edward Blair
- Jeroen Breckpot
- Anna de Burca
- Anne Destrée
- Sixto García-Miñaur
- Andrew Green
- Bernadette C. Hanna
- Kathelijn Keymolen
- Marije Koopmans
- Damien Lederer
- Melissa Lees
- Cheryl Longman
- Sally Ann Lynch
- Alison Male
- Fiona Haslam McKenzie
- Isabelle Migeotte
- Ercan Mihci
- Banu Güzel Nur
- Florence Petit
- Juliette Piard
- Frank Plasschaert
- Anita Rauch
- Pascale Ribai
- Iratxe Salcedo Pacheco
- Franco Stanzial
- Irene Stolte-Dijkstra
- Irene Valenzuela
- Vinod Varghese
- Pradeep Vasudevan
- Emma Wakeling
- Carina Wallgren-Pettersson
- Paul Coucke
- Anne De Paepe
- Daniël De Wolf
- Sofie Symoens
- Bert Callewaert
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- Yanick J. Crow
- Heather Marshall
- Gillian I. Rice
- Luis Seabra
- Emma M. Jenkinson
- Kristin W. Barañano
- Roberta Battini
- Andrea Berger
- Edward Blair
- Thomas Blauwblomme
- Francois V. Bolduc
- Natalie Boddaert
- Johannes Buckard
- Heather Burnett
- Sophie Calvert
- Roseline Caumes
- Andy Cheuk-Him Ng
- Diana Chiang
- David B. Clifford
- Duccio Maria Cordelli
- Anna de Burca
- Natasha Demic
- Isabelle Desguerre
- Liesbeth De Waele
- Alessio Di Fonzo
- S. Richard Dunham
- Sarah Dyack
- Frances Elmslie
- Mickaël Ferrand
- Gemma Fisher
- Ehsan Ghayoor Karimiani
- Jamal Ghoumid
- Frances Gibbon
- Himanshu Goel
- Hilde T Hilmarsen
- Imelda Hughes
- Anu Jacob
- Elizabeth A. Jones
- Ram Kumar
- Richard J. Leventer
- Shelley MacDonald
- Reza Maroofian
- Sarju G. Mehta
- Imke Metz
- Edoardo Monfrini
- Daniela Neumann
- Michael J. Noetzel
- Mary ODriscoll
- Katrin Õunap
- Axel Panzer
- Sumit Parikh
- Prab Prabhakar
- Francis Ramond
- Richard Sandford
- Russell P. Saneto
- Calvin Soh
- Chloe A Stutterd
- Gopinath M. Subramanian
- Kevin Talbot
- Rhys H Thomas
- Camilo Toro
- Renaud Touraine
- Emma L Wakeling
- Evangeline Wassmer
- Andrea Whitney
- John H. Livingston
- Raymond T. OKeefe
- Andrew P Badrock
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Citations (3) - 2019 Clinical Genetics
- Alistair T. Pagnamenta
- Pamela J. Kaisaki
- Fenella Bennett
- Emma Burkitt-Wright
- Hilary C. Martin
- Matteo P. Ferla
- John M. Taylor
- Lianne Gompertz
- Nayana Lahiri
- Katrina Tatton-Brown
- Ruth Newbury-Ecob
- Alex Henderson
- Shelagh Joss
- Astrid Weber
- Jenny Carmichael
- Peter D Turnpenny
- Shane McKee
- Francesca Forzano
- Tazeen Ashraf
- Kimberley Bradbury
- Deborah J. Shears
- Usha Kini
- Anna de Burca
- Edward Blair
- Jenny C. Taylor
- Helen Stewart
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Citations (14) - 2019 Genetics in Medicine
- Ilse Meerschaut
- Shana De Coninck
- Wouter Steyaert
- Angela Barnicoat
- Allan Bayat
- Francesco Benedicenti
- Siren Berland
- Edward Blair
- Jeroen Breckpot
- Anna de Burca
- Anne Destrée
- Sixto García-Miñaur
- Andrew Green
- Bernadette C. Hanna
- Kathelijn Keymolen
- Marije Koopmans
- Damien Lederer
- Melissa Lees
- Cheryl Longman
- Sally Ann Lynch
- Alison Male
- Fiona Haslam McKenzie
- Isabelle Migeotte
- Ercan Mihci
- Banu Güzel Nur
- Florence Petit
- Juliette Piard
- Frank Plasschaert
- Anita Rauch
- Pascale Ribai
- Iratxe Salcedo Pacheco
- Franco Stanzial
- Irene Stolte-Dijkstra
- Irene Valenzuela
- Vinod Varghese
- Pradeep Vasudevan
- Emma Wakeling
- Carina Wallgren-Pettersson
- Paul Coucke
- Anne De Paepe
- Daniël De Wolf
- Sofie Symoens
- Bert Callewaert
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Citations (9) - 2019 Nature Genetics
- Antonio Rueda Martin
- Eleanor Williams
- Rebecca E. Foulger
- Sarah Leigh
- Louise C. Daugherty
- Olivia Niblock
- Ivone U. S. Leong
- Katherine R. Smith
- Oleg Gerasimenko
- Eik Haraldsdottir
- Ellen Thomas
- Richard H. Scott
- Emma L. Baple
- Arianna Tucci
- Helen Brittain
- Anna de Burca
- Kristina Ibáñez
- Dalia Kasperaviciute
- Damian Smedley
- Mark J. Caulfield
- Augusto Rendon
- Ellen M. McDonagh
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Citations (84) -
- Margot R.F. Reijnders
- Kerry A. Miller
- Mohsan Alvi
- Jacqueline A.C. Goos
- Melissa Lees
- Anna de Burca
- Alex Henderson
- Alison Kraus
- Barbara Mikat
- Bert B.A. de Vries
- Bertrand Isidor
- Bronwyn Kerr
- Carlo Marcelis
- Caroline Schluth-Bolard
- Charu Deshpande
- Claudia A. L. Ruivenkamp
- Dagmar Wieczorek
- Diana Baralle
- Edward Blair
- Hartmut Engels
- Hermann-Josef Lüdecke
- Jacqueline Eason
- Gijs W.E. Santen
- Jill Clayton-Smith
- Kate Chandler
- Katrina Tatton-Brown
- Katelyn Payne
- Katherine L. Helbig
- Kelly Radtke
- Kimberly M. Nugent
- Kirsten Cremer
- Tim M. Strom
- Lynne M. Bird
- Margje Sinnema
- Maria Bitner-Glindzicz
- Marieke F. van Dooren
- Marielle Alders
- Marije Koopmans
- Lauren Brick
- Mariya Kozenko
- Megan L. Harline
- Merel Klaassens
- Michelle Steinraths
- Nicola S. Cooper
- Patrick Edery
- Patrick Yap
- Paulien A. Terhal
- Peter J. van der Spek
- Phillis Lakeman
- Rachel L. Taylor
- Rebecca O. Littlejohn
- Rolph Pfundt
- Saadet Mercimek-Andrews
- Alexander P. A. Stegmann
- Sarina G. Kant
- Scott McLean
- Shelagh Joss
- Sigrid M. A. Swagemakers
- Sofia Douzgou
- Steven A. Wall
- Sebastian Kury
- Eduardo Calpena
- Nils Koelling
- Simon J. McGowan
- Stephen R.F. Twigg
- Irene M.J. Mathijssen
- Christoffer Nellåker
- Han G. Brunner
- Andrew O.M. Wilkie
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