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- Francesca Clementina Radio
- Kaifang Pang
- Andrea Ciolfi
- Michael A. Levy
- Andrés Hernández-García
- Lucia Pedace
- Francesca Pantaleoni
- Zhandong Liu
- Elke de Boer
- Adam Jackson
- Alessandro Bruselles
- Haley McConkey
- Emilia Stellacci
- Stefania Lo Cicero
- Marialetizia Motta
- Rosalba Carrozzo
- Maria Lisa Dentici
- Kirsty McWalter
- Megha Desai
- Kristin G. Monaghan
- Aida Telegrafi
- Christophe Philippe
- Antonio Vitobello
- Margaret Au
- Katheryn Grand
- Pedro A. Sanchez-Lara
- Joanne Baez
- Kristin Lindstrom
- Peggy Kulch
- Jessica Sebastian
- Suneeta Madan-Khetarpal
- Chelsea Roadhouse
- Jennifer MacKenzie
- Berrin Monteleone
- Carol J. Saunders
- July K. Jean Cuevas
- Laura A. Cross
- Dihong Zhou
- Taila Hartley
- Sarah L. Sawyer
- Fabíola Paoli Monteiro
- Tania Vertemati Secches
- Fernando Kok
- Laura Schultz-Rogers
- Erica L. Macke
- Eva Morava
- Eric W. Klee
- Jennifer L. Kemppainen
- Maria Iascone
- Angelo Selicorni
- Romano Tenconi
- David J. Amor
- Lynn Pais
- Lyndon Gallacher
- Peter D. Turnpenny
- Karen Stals
- Sian Ellard
- Sara Cabet
- Gaetan Lesca
- Joset Pascal
- Katharina Steindl
- Sarit Ravid
- Karin Weiss
- Alison M.R. Castle
- Melissa T. Carter
- Louisa Kalsner
- Bert B.A. de Vries
- Bregje W.M. van Bon
- Marijke R. Wevers
- Rolph Pfundt
- Alexander P. A. Stegmann
- Bronwyn Kerr
- Helen Kingston
- Kate Chandler
- Willow Sheehan
- Abdallah F. Elias
- Deepali N. Shinde
- Meghan C. Towne
- Nathaniel H. Robin
- Dana H Goodloe
- Adeline Vanderver
- Omar Sherbini
- Krista Bluske
- R. Tanner Hagelstrom
- Caterina Zanus
- Flavio Faletra
- Luciana Musante
- Evangeline C. Kurtz-Nelson
- Rachel K. Earl
- Britt-Marie Anderlid
- Gilles Morin
- Marjon van Slegtenhorst
- Karin E. M. Diderich
- Alice S. Brooks
- Joost Gribnau
- Ruben Boers
- Teresa Robert Finestra
- Lauren Carter
- Anita Rauch
- Paolo Gasparini
- Kym M. Boycott
- Tahsin Stefan Barakat
- John M. Graham
- Laurence Faivre
- Siddharth Banka
- Tianyun Wang
- Evan E. Eichler
- Manuela Priolo
- Bruno Dallapiccola
- Lisenka E.L.M. Vissers
- Bekim Sadikovic
- Daryl A. Scott
- Jimmy Lloyd Holder
- Marco Tartaglia
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Citations (13) -
- 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) -
- Marialetizia Motta
- Giulia Fasano
- Sina Gredy
- Julia Brinkmann
- Adeline Bonnard
- Pelin Ozlem Simsek-Kiper
- Elif Yilmaz Gulec
- Leila Essaddam
- Gülen Eda Utine
- Ingrid Guarnetti Prandi
- Martina Venditti
- Francesca Pantaleoni
- Francesca Clementina Radio
- Andrea Ciolfi
- Stefania Petrini
- Federica Consoli
- Cédric Vignal
- Denis Hepbasli
- Melanie Ullrich
- Elke de Boer
- Lisenka E.L.M. Vissers
- Sami Gritli
- Cesare Rossi
- Alessandro De Luca
- Saayda Ben Becher
- Bruce D. Gelb
- Bruno Dallapiccola
- Antonella Lauri
- Giovanni Chillemi
- Kai Schuh
- Hélène Cavé
- Martin Zenker
- Marco Tartaglia
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Citations (3) -
- Rebecca Schüle
- Dagmar Timmann
- Corrie E. Erasmus
- Jennifer Reichbauer
- Melanie Wayand
- Jonathan Baets
- Peter Balicza
- Patrick Chinnery
- Alexandra Dürr
- Tobias B. Haack
- Holger Hengel
- Rita Horvath
- Henry Houlden
- Erik-Jan Kamsteeg
- Christoph Kamsteeg
- Katja Lohmann
- Alfons Macaya
- Anna Marcé-Grau
- Aleš Maver
- Judit Molnár
- Alexander Münchau
- Borut Peterlin
- Olaf Riess
- Ludger Schöls
- Giovanni Stevanin
- Matthis Synofzik
- Vincent Timmerman
- Bart P.C. van de Warrenburg
- Nienke van Os
- Jana Vandrovcova
- Carlo Wilke
- Andrea Bevot
- Stephan Züchner
- Sergi Beltran
- Steven Laurie
- Leslie Matalonga
- Holm Graessner
- Birte Zurek
- Kornelia Ellwanger
- Stephan Ossowski
- German Demidov
- Marc Sturm
- Julia M. Schulze-Hentrich
- Peter Heutink
- Han G. Brunner
- Hans Scheffer
- Nicoline Hoogerbrugge
- Alexander Hoischen
- Peter A. C. 't Hoen
- Lisenka E.L.M. Vissers
- Christian Gilissen
- Wouter Steyaert
- Karolis Šablauskas
- Richarda M. de Voer
- Erik Janssen
- Elke de Boer
- Marloes Steehouwer
- Burcu Yaldiz
- Tjitske Kleefstra
- Anthony J. Brookes
- Colin Veal
- Spencer Gibson
- Marc Wadsley
- Mehdi Mehtarizadeh
- Umar Riaz
- Greg Warren
- Farid Yavari Dizjikan
- Thomas Shorter
- Ana Töpf
- Volker Straub
- Chiara Marini-Bettolo
- Sabine Specht
- Jill Clayton-Smith
- Siddharth Banka
- Elizabeth Alexander
- Adam Jackson
- Laurence Faivre
- Christel Thauvin
- Antonio Vitobello
- Anne-Sophie Denommé-Pichon
- Yannis Duffourd
- Emilie Tisserant
- Ange-Line Bruel
- Christine Peyron
- Aurore Pelissier
- Ivo Gut
- Davide Piscia
- Anastasios Papakonstantinou
- Gemma Bullich
- Alberto Corvò
- Carles Garcia
- Marcos Fernandez-Callejo
- Carles Hernandez
- Daniel Pico
- Ida Paramonov
- Hanns Lochmüller
- Gulcin Gumus
- Virginie Bros-Facer
- Ana Rath
- Marc Hanauer
- Annie Olry
- David Lagorce
- Svitlana Havrylenko
- Katia Izem
- Fanny Rigour
- Claire-Sophie Davoine
- Léna Guillot-Noël
- Anna Heinzmann
- Giulia Coarelli
- Gisèle Bonne
- Teresinha Evangelista
- Valérie Allamand
- Isabelle Nelson
- Rabah Ben Yaou
- Corinne Metay
- Bruno Eymard
- Enzo Cohen
- Antonio Atalaia
- Tanya Stojkovic
- Milan Macek
- Marek Turnovec
- Dana Thomasova
- Radka Pourová Kremliková
- Vera Frankova
- Marketa Havlovicova
- Vlastimil Kremlik
- Helen Parkinson
- Thomas Keane
- Dylan Spalding
- Alexander Senf
- Peter N. Robinson
- Daniel Danis
- Glenn Robert
- Alessia Costa
- Christine Patch
- Mike Hanna
- Mary Reilly
- Francesco Muntoni
- Irina Zaharieva
- Anna Sarkozy
- Peter De Jonghe
- Vincenzo Nigro
- Sandro Banfi
- Annalaura Torella
- Francesco Musacchia
- Giulio Piluso
- Alessandra Ferlini
- Rita Selvatici
- Rachele Rossi
- Marcella Neri
- Stefan Aretz
- Isabel Spier
- Anna Katharina Sommer
- Sophia Peters
- Carla Oliveira
- José Garcia-Pelaez
- Ana Rita Matos
- Celina São José
- Marta Ferreira
- Irene Gullo
- Susana Fernandes
- Luzia Garrido
- Pedro Ferreira
- Fátima Carneiro
- Morris A. Swertz
- Lennart F. Johansson
- Joeri K. van der Velde
- Gerben van der Vries
- Pieter B. Neerincx
- Dieuwke Roelofs-Prins
- Sebastian Köhler
- Alison Metcalfe
- Alain Verloes
- Séverine Drunat
- Caroline Rooryck
- Aurélien Trimouille
- Raffaele Castello
- Manuela Morleo
- Michele Pinelli
- Alessandra Varavallo
- Manuel Posada de la Paz
- Eva Bermejo-Sánchez
- Estrella López Martín
- Beatriz Martínez-Delgado
- F. Javier Alonso García de la Rosa
- Andrea Ciolfi
- Bruno Dallapiccola
- Simone Pizzi
- Francesca Clementina Radio
- Marco Tartaglia
- Alessandra Renieri
- Elisa Benetti
- Mária Judit Molnár
- Rebecca Herzog
- Martje Pauly
- Andres Nascimiento Osorio
- Daniel Natera-de Benito
- Rachel Thompson
- Kiran Polavarapu
- David Beeson
- Judith Cossins
- Pedro M. Rodríguez Cruz
- Peter Hackman
- Mridul Johari
- Marco Savarese
- Bjarne Udd
- Gabriel Capellá
- Laura Valle
- Elke Holinski–Feder
- Andreas Laner
- Verena Steinke-Lange
- Evelin Schröck
- Andreas Rump
- Solve-RD-DITF-RND
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Citations (0) - 2020 bioRxiv
- Joanna Kaplanis
- Kaitlin E. Samocha
- Laurens Wiel
- Zhancheng Zhang
- Kevin J. Arvai
- Ruth Y. Eberhardt
- Giuseppe Gallone
- Stefan H. Lelieveld
- Hilary C. Martin
- Jeremy F. McRae
- Patrick J. Short
- Rebecca I. Torene
- Elke de Boer
- Petr Danecek
- Eugene J. Gardner
- Ni Huang
- Jenny Lord
- Inigo Martincorena
- Rolph Pfundt
- Margot R.F. Reijnders
- Alison Yeung
- Helger G. Yntema
- Ddd Study
- Lisenka E.L.M. Vissers
- Jane Juusola
- Caroline F. Wright
- Han G. Brunner
- Helen V. Firth
- David Fitzpatrick
- Jeffrey C. Barrett
- Matthew E. Hurles
- Christian Gilissen
- Kyle Retterer
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Citations (36) - 2020 Nature
- Joanna Kaplanis
- Kaitlin E. Samocha
- Laurens Wiel
- Zhancheng Zhang
- Kevin J. Arvai
- Ruth Y. Eberhardt
- Giuseppe Gallone
- Stefan H. Lelieveld
- Hilary C. Martin
- Jeremy F. McRae
- Patrick J. Short
- Rebecca I. Torene
- Elke de Boer
- Petr Danecek
- Eugene J. Gardner
- Ni Huang
- Jenny Lord
- Inigo Martincorena
- Rolph Pfundt
- Margot R.F. Reijnders
- Alison Yeung
- Helger G. Yntema
- Deciphering Developmental Disorders Study
- Lisenka E.L.M. Vissers
- Jane Juusola
- Caroline F. Wright
- Han G. Brunner
- Helen V. Firth
- David Fitzpatrick
- Jeffrey C. Barrett
- Matthew E. Hurles
- Christian Gilissen
- Kyle Retterer
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Citations (88) -
- Lisenka E.L.M. Vissers
- Sreehari Kalvakuri
- Elke de Boer
- Sinje Geuer
- Machteld M. Oud
- Inge van Outersterp
- Michael P. Kwint
- Melde Witmond
- Simone Kersten
- Daniel L. Polla
- Dilys Weijers
- Amber Begtrup
- Kirsty McWalter
- Anna Ruiz
- Elisabeth Gabau
- Jenny Morton
- Christopher Griffith
- Karin Weiss
- Candace Gamble
- James A. Bartley
- Hilary J. Vernon
- Kendra Brunet
- Claudia A. L. Ruivenkamp
- Sarina G. Kant
- Paul Kruszka
- Austin Larson
- Alexandra Afenjar
- Thierry Billette de Villemeur
- Kimberly M. Nugent
- F. Lucy Raymond
- Hanka Venselaar
- Florence Demurger
- Claudia Soler-Alfonso
- Dong Li
- Elizabeth J. Bhoj
- Ian Hayes
- Nina Powell Hamilton
- Ayesha Ahmad
- Rachel Fisher
- Myrthe van den Born
- Marjolaine Willems
- A. Sorlin
- Julian Delanne
- Sébastien Moutton
- Philippe Christophe
- Frédéric Tran Mau-Them
- Antonio Vitobello
- Himanshu Goel
- Lauren Massingham
- Chanika Phornphutkul
- Jennifer Schwab
- Boris Keren
- Perrine Charles
- Maaike Vreeburg
- Lenika De Simone
- George E. Hoganson
- Maria Iascone
- Donatella Milani
- Lucie Evenepoel
- Nicole Revencu
- D. Isum Ward
- Kaitlyn Burns
- Ian D. Krantz
- Sarah E. Raible
- Jill R. Murrell
- Kathleen Wood
- Megan T. Cho
- Hans van Bokhoven
- Maximilian Muenke
- Tjitske Kleefstra
- Rolf Bodmer
- Arjan P.M. de Brouwer
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Citations (11) -
- David A. Dyment
- Anne H. O'Donnell-Luria
- Pankaj B. Agrawal
- Zeynep Coban Akdemir
- Kyrieckos A. Aleck
- Danny Antaki
- Hind Al Sharhan
- Ping-Yee B Au
- Hatip Aydin
- Alan H. Beggs
- Kaya Bilguvar
- Eric Boerwinkle
- Harrison Brand
- Catherine A. Brownstein
- Steve Buyske
- Bernard N. Chodirker
- Jungmin Choi
- Albert E. Chudley
- Carol L. Clericuzio
- Gerald F. Cox
- Cynthia J. Curry
- Elke de Boer
- Bert B.A. de Vries
- Kathryn Dunn
- Cullen M. Dutmer
- Eleina M. England
- Jill A. Fahrner
- Bilgen B. Geckinli
- Casie A. Genetti
- Alper Gezdirici
- William T. Gibson
- Joseph G. Gleeson
- Cheryl R. Greenberg
- April Hall
- Ada Hamosh
- Taila Hartley
- Shalini N. Jhangiani
- Ender Karaca
- Kristin D. Kernohan
- Julie L. Lauzon
- M. E. Suzanne Lewis
- R. Brian Lowry
- Francesc López-Giráldez
- Tara C. Matise
- Jennifer McEvoy-Venneri
- Brenda McInnes
- Aziz Mhanni
- Sixto García-Miñaur
- Jukka S. Moilanen
- An Nguyen
- Małgorzata J.M. Nowaczyk
- Jennifer E. Posey
- Katrin Õunap
- Davut Pehlivan
- Sander Pajusalu
- Lynette S. Penney
- Timothy Poterba
- Paolo Prontera
- Maria Juliana Rodovalho Doriqui
- Sarah L. Sawyer
- Nara Sobreira
- Valentina Stanley
- Deniz Torun
- David S. Wargowski
- P. Dane Witmer
- Isaac Wong
- Jinchuan Xing
- Maha S. Zaki
- Yeting Zhang
- Centers for Mendelian Genomics
- Kym M. Boycott
- Michael J. Bamshad
- Deborah A. Nickerson
- Elizabeth E. Blue
- A. Micheil Innes
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Citations (4)
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