Filter By
Interval:
1900~2024
1900
2024
Author
Papers (53)
Sort By
Journal Conference Others
- Default
- Most Recent
- Most Early
- Most Citation
No data
- 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
Show All- Source
- Cite
- Save
Citations (8) - 2021 Case ReportsShow All
- Source
- Cite
- Save
Citations (0) - 2021 Genetics in Medicine
- Halie J May
- Jaehoon Jeong
- Anya Revah Politi
- Julie S. Cohen
- Anna Chassevent
- Julia Baptista
- Evan H. Baugh
- Louise Bier
- Armand Bottani
- Maria Teresa Carminho A Rodrigues
- Charles Conlon
- Joel Victor Fluss
- Michel Guipponi
- Chong Ae Kim
- Naomichi Matsumoto
- Richard Person
- Michelle Primiano
- Julia Rankin
- Marwan Shinawi
- Constance Smith-Hicks
- Aida Telegrafi
- Samantha Toy
- Yuri Uchiyama
- Vimla Aggarwal
- David Goldstein
- Katherine W. Roche
- Kwame Anyane-Yeboa
Show All- Source
- Cite
- Save
Citations (1) - Show All
- Source
- Cite
- Save
Citations (0) - 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
Show All- Source
- Cite
- Save
Citations (12) -
- Félixe Pelletier
- Stefanie Perrier
- Ferdy K. Cayami
- Amytice Mirchi
- Stephan Saikali
- Luan T. Tran
- Nicole Ulrick
- Kether Guerrero
- Emmanouil Rampakakis
- Rosalina M. L. van Spaendonk
- Sakkubai Naidu
- Daniela Pohl
- William T. Gibson
- Michelle Demos
- Cyril Goizet
- Ingrid Tejera-Martin
- Ana Potic
- Brent L. Fogel
- Bernard Brais
- Michel Sylvain
- Guillaume Sébire
- Charles Marques Lourenço
- Joshua L. Bonkowsky
- Coriene E. Catsman-Berrevoets
- Pedro S. Pinto
- Sandya Tirupathi
- Petter Strømme
- Ton J. de Grauw
- Dorota Gieruszczak-Białek
- Ingeborg Krägeloh-Mann
- Hanna Mierzewska
- Heike Philippi
- Julia Rankin
- Tahir Atik
- Brenda Banwell
- William S. Benko
- A Blaschek
- Annette Bley
- Eugen Boltshauser
- Drago Bratkovic
- Klára Brožová
- Icíar Cimas
- Christopher Clough
- Bernard Corenblum
- Argirios Dinopoulos
- Gail Dolan
- Flavio Faletra
- Raymond Fernandez
- Janice M. Fletcher
- Maria Eugenia Garcia Garcia
- Paolo Gasparini
- Janina Gburek-Augustat
- Dolores Gonzalez Moron
- Aline Hamati
- Inga Harting
- Christoph Hertzberg
- Alan Hill
- Grace M. Hobson
- A. Micheil Innes
- Marcelo Andrés Kauffman
- Susan M. Kirwin
- Gerhard Kluger
- Petra Kolditz
- Urania Kotzaeridou
- Roberta La Piana
- Eriskay Liston
- William McClintock
- Meriel McEntagart
- Fiona Haslam McKenzie
- Serge Melançon
- Anjum Misbahuddin
- Mohnish Suri
- Fernando I. Monton
- Sébastien Moutton
- Raymond P J Murphy
- Miriam Nickel
- Huseyin Onay
- Simona Orcesi
- Ferda Ozkinay
- Steffi Patzer
- Helio Pedro
- Sandra Pekic
- Mercedes Pineda Marfá
- Amy Pizzino
- Barbara Plecko
- Bwee Tien Poll-The
- Vera Popovic
- Dietz Rating
- Marie-France Rioux
- Norberto Rodríguez-Espinosa
- Anne Ronan
- John R. Østergaard
- Elsa Rossignol
- Rocío Sánchez-Carpintero
- Anna Schossig
- Nesrin Senbil
- Laura Roos
- Cathy A. Stevens
- Matthis Synofzik
- László Sztriha
- Daniel Tibussek
- Dagmar Timmann
- Davide Tonduti
- Bart P.C. van de Warrenburg
- María Vázquez-López
- Sunita Venkateswaran
- Pontus Wasling
- Evangeline Wassmer
- Richard Webster
- Gert Wiegand
- Grace Yoon
- Joost Rotteveel
- Raphael Schiffmann
- Marjo S. van der Knaap
- Adeline Vanderver
- Gabriel Á. Martos Moreno
- Constantin Polychronakos
- Nicole I. Wolf
- Geneviève Bernard
Show All- Source
- Cite
- Save
Citations (8) - 2020 Neurology GeneticsShow All
- Source
- Cite
- Save
Citations (0) - Show All
- Source
- Cite
- Save
Citations (8) - 2020 Genes & Development
- David A. Parry
- Lukas Tamayo Orrego
- Paula Carroll
- Joseph A. Marsh
- Philip Greene
- Olga Murina
- Carolina Uggenti
- Andrea Leitch
- Scottish Genomes Partnership
- Rita Káposzta
- Gabriella Merő
- Andrea Nagy
- Brigitta Orlik
- Balázs Kovács-Pászthy
- Alan J. Quigley
- Magdolna Riszter
- Julia Rankin
- Martin A. M. Reijns
- Katalin Szakszon
- Andrew P. Jackson
Show All- Source
- Cite
- Save
Citations (7) -
- Lot Snijders Blok
- Justine Rousseau
- Joanna Twist
- Sophie Ehresmann
- Motoki Takaku
- Hanka Venselaar
- Lance H. Rodan
- Catherine Nowak
- Jessica Douglas
- Kathryn J. Swoboda
- Marcie A. Steeves
- Inderneel Sahai
- Connie T. R. M. Stumpel
- Alexander P. A. Stegmann
- Patricia G. Wheeler
- Marcia C. Willing
- Elise Fiala
- Aaina Kochhar
- William T. Gibson
- Ana S. A. Cohen
- Ruky Agbahovbe
- A. Micheil Innes
- P.Y. Billie Au
- Julia Rankin
- Ilse J. Anderson
- Steven A. Skinner
- Raymond J. Louie
- Hannah E. Warren
- Alexandra Afenjar
- Boris Keren
- Caroline Nava
- Julien Buratti
- Arnaud Isapof
- Diana Rodriguez
- Raymond Lewandowski
- Jennifer Propst
- Ton van Essen
- Murim Choi
- Sang-Moon Lee
- Jong-Hee Chae
- Susan Price
- Rhonda E. Schnur
- Ganka Douglas
- Ingrid M. Wentzensen
- Christiane Zweier
- André Reis
- Martin G. Bialer
- Christine Moore
- Sandra Jansen
- Han G. Brunner
Show All- Source
- Cite
- Save
Citations (402)
- 1
- 2
- 3
- 4
- 5
- 6