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- Pietro Carotenuto
- Alessia Romano
- Anna Barbato
- Paola Quadrano
- Simona Brillante
- Mariagrazia Volpe
- Luigi Ferrante
- Roberta Tammaro
- Manuela Morleo
- Rossella De Cegli
- Antonella Iuliano
- Gennaro Ciliberto
- Eduardo Clery
- Giancarlo Troncone
- Giuseppe De Palma
- Claudio Arra
- Antonio Barbieri
- Marieelena Capone
- Gabriele Madonna
- Paolo A. Ascierto
- Luisa Lanfrancone
- Alessia Indrieri
- Brunella Franco
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Citations (0) - 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 (0) - 2021 The EMBO Journal
- Emanuela Senatore
- Francesco Chiuso
- Laura Rinaldi
- Daniela Intartaglia
- Rossella Delle Donne
- Emilia Pedone
- Bruno Catalanotti
- Luciano Pirone
- Bianca Fiorillo
- Federica Moraca
- Giuliana Giamundo
- Giovanni Scala
- Andrea Raffeiner
- Omar Torres-Quesada
- Eduard Stefan
- Marcel Kwiatkowski
- Alienke van Pijkeren
- Manuela Morleo
- Brunella Franco
- Corrado Garbi
- Ivan Conte
- Antonio Feliciello
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- Elodie Richard
- Somayeh Bakhtiari
- Ashley P.L. Marsh
- Rauan Kaiyrzhanov
- Matias Wagner
- Sheetal Shetty
- Alex M. Pagnozzi
- Sandra M Nordlie
- Brandon S. Guida
- Patricia Cornejo
- Helen Magee
- James Liu
- Bethany Y Norton
- Richard Webster
- Lisa Worgan
- Hakon Hakonarson
- Jiankang Li
- Yiran Guo
- Mahim Jain
- Alyssa Blesson
- Lance H. Rodan
- Mary-Alice Abbott
- Anne M. Comi
- Julie S. Cohen
- Bader Alhaddad
- Thomas Meitinger
- Dominic Lenz
- Andreas Ziegler
- Urania Kotzaeridou
- Theresa Brunet
- Anna Chassevent
- Constance Smith-Hicks
- Joseph Ekstein
- Tzvi Weiden
- Andreas Hahn
- Nazira Zharkinbekova
- Peter D. Turnpenny
- Arianna Tucci
- Melissa Yelton
- Rita Horvath
- Serdal Güngör
- Semra Hiz
- Yavuz Oktay
- Hanns Lochmüller
- Marcella Zollino
- Manuela Morleo
- Giuseppe Marangi
- Vincenzo Nigro
- Annalaura Torella
- Michele Pinelli
- Simona Amenta
- Ralf A. Husain
- Benita Grossmann
- Marion Rapp
- Claudia Steen
- Iris Marquardt
- Mona Grimmel
- Ute Grasshoff
- G. Christoph Korenke
- Marta Owczarek-Lipska
- John Neidhardt
- Francesca Clementina Radio
- Cecilia Mancini
- Dianela Judith Claps Sepulveda
- Kirsty McWalter
- Amber Begtrup
- Amy Crunk
- Maria J. Guillen Sacoto
- Richard Person
- Rhonda E. Schnur
- Maria Margherita Mancardi
- Florian Kreuder
- Pasquale Striano
- Federico Zara
- Wendy K. Chung
- Warren A. Marks
- Clare L. van Eyk
- Dani L. Webber
- Mark A. Corbett
- Kelly Harper
- Jesia G. Berry
- Alastair H. MacLennan
- Jozef Gecz
- Marco Tartaglia
- Vincenzo Salpietro
- John Christodoulou
- Jan Kaslin
- Sergio Padilla-Lopez
- Kaya Bilguvar
- Alexander Münchau
- Zubair M. Ahmed
- Robert B. Hufnagel
- Michael C Fahey
- Reza Maroofian
- Henry Houlden
- Heinrich Sticht
- Shrikant Mane
- Aboulfazl Rad
- Barbara Vona
- Sheng Chih Jin
- Tobias B. Haack
- Christine Makowski
- Yoel Hirsch
- Saima Riazuddin
- Michael C. Kruer
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- 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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