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- Dara Tolchin
- Jessica P. Yeager
- Priya Prasad
- Naghmeh Dorrani
- Alvaro Serrano Russi
- Julian A. Martinez-Agosto
- Abdul Haseeb
- Marco Angelozzi
- Gijs W.E. Santen
- Claudia A. L. Ruivenkamp
- Saadet Mercimek-Andrews
- Christel Depienne
- Alma Kuechler
- Barbara Mikat
- Hermann-Josef Lüdecke
- Frédéric Bilan
- Gwenaël Le Guyader
- Brigitte Gilbert-Dussardier
- Boris Keren
- Solveig Heide
- Damien Haye
- Hilde Van Esch
- Liesbeth Keldermans
- Damara Ortiz
- Emily Lancaster
- Ian D. Krantz
- Bryan L. Krock
- Kieran B. Pechter
- Alexandre Arkader
- Livija Medne
- Elizabeth T. DeChene
- Eduardo Calpena
- Giada Melistaccio
- Andrew O.M. Wilkie
- Mohnish Suri
- Nicola Foulds
- J.C. Ambrose
- M. Bleda
- F. Boardman-Pretty
- J.M. Boissiere
- C.R. Boustred
- M.J. Caulfield
- G.C. Chan
- C.E.H. Craig
- L.C. Daugherty
- A. de Burca
- A. Devereau
- G. Elgar
- R. E. Foulger
- T Fowler
- P Furio-Tari
- J.M. Hackett
- D. Halai
- J.E. Holman
- T. J. P. Hubbard
- D Kasperaviciūte
- M. Kayikci
- L. Lahnstein
- K Lawson
- S. E. A. Leigh
- I.U.S. Leong
- F. J. López
- F Maleady-Crowe
- J. Mason
- E.M. McDonagh
- L Moutsianas
- Martina Mueller
- A. C. Need
- C.A. Odhams
- C. Patch
- D. Pérez Gil
- D. Polychronopoulos
- J. Pullinger
- T. Rahim
- A. Rendon
- T. Rogers
- M Ryten
- K Savage
- R. H. Scott
- A Siddiq
- A Sieghart
- D. Smedley
- K. R. Smith
- A Sosinsky
- W. Spooner
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- A. Stuckey
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- C. Tregidgo
- A. Tucci
- E. Walsh
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- M.J. Welland
- E. Williams
- K. Witkowska
- S.M. Wood
- M. Zarowiecki
- Amber Begtrup
- Lindsay B. Henderson
- Cara Forster
- Patrick Reed
- Marie McDonald
- Allyn McConkie Rosell
- Julien Thevenon
- Pauline Le Tanno
- Charles Coutton
- Anne C H Tsai
- Sarah Stewart
- Aleš Maver
- Rudolf Gorazd
- Olivier Pichon
- Mathilde Nizon
- Benjamin Cogné
- Bertrand Isidor
- Dominique Martin-Coignard
- Radka Stoeva
- Véronique Lefebvre
- Cédric Le Caignec
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Citations (4) - 2019 Genetics in Medicine
- Elodie Sanchez
- Béryl Laplace-Builhé
- Frédéric Tran-Mau-Them
- Eric Richard
- Alice Goldenberg
- Tomi L. Toler
- Thomas Guignard
- Vincent Gatinois
- Marie Vincent
- Catherine Blanchet
- Anne Boland
- Marie Thérèse Bihoreau
- Jean-François Deleuze
- Robert Olaso
- Walton Nephi
- Hermann-Josef Lüdecke
- Joke B. G. M. Verheij
- Florence Moreau-Lenoir
- Françoise Denoyelle
- Jean-Baptiste Rivière
- Jean-Louis Laplanche
- Marcia C. Willing
- Guillaume Captier
- Florence Apparailly
- Dagmar Wieczorek
- Corinne Collet
- Farida Djouad
- David Geneviève
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Citations (27) - 2019 Cell
- Ron D. Jachimowicz
- Filippo Beleggia
- Jörg Isensee
- Bhagya Bhavana Velpula
- Jonas Goergens
- Matias A. Bustos
- Markus A. Doll
- Anjana Shenoy
- Cintia Checa-Rodriguez
- Janica Lea Wiederstein
- Keren Baranes-Bachar
- Christoph Bartenhagen
- Falk Hertwig
- Nizan Teper
- Tomohiko Nishi
- Anna Schmitt
- Felix Distelmaier
- Hermann-Josef Lüdecke
- Beate Albrecht
- Marcus Krüger
- Björn Schumacher
- Tamar Geiger
- Dave S.B. Hoon
- Pablo Huertas
- Matthias Fischer
- Tim Hucho
- Martin Peifer
- Yael Ziv
- H. Christian Reinhardt
- Dagmar Wieczorek
- Yosef Shiloh
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Citations (54) - 2019 Clinical Genetics
- Lorenzo Sinibaldi
- Valentina Parisi
- Silvia Lanciotti
- Paolo Fontana
- Alma Kuechler
- Geneviève Baujat
- Barbara Torres
- Judith Koetting
- Alessandra Splendiani
- Diana Postorivo
- Jasmin Beygo
- Francesco Garaci
- Valérie Malan
- Hermann-Josef Lüdecke
- Valentina Guida
- Mandy Krumbiegel
- Fortunato Lonardo
- Antonio Novelli
- Beate Albrecht
- Chiara Perria
- Gioacchino Scarano
- Malte Spielmann
- Annamaria Nardone
- Agatino Battaglia
- Francesco Brancati
- Laura Bernardini
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Citations (2) - 2018 Human Mutation
- Raman Kumar
- Alison Gardner
- Claire C. Homan
- Evelyn Douglas
- Heather C. Mefford
- Dagmar Wieczorek
- Hermann-Josef Lüdecke
- Zornitza Stark
- Simon Sadedin
- Catherine Nowak
- Jessica Douglas
- Gretchen Parsons
- Paul R. Mark
- Lourdes Loidi
- Gail E. Herman
- Theresa Mihalic Mosher
- Meredith K. Gillespie
- Lauren Brady
- Mark A. Tarnopolsky
- Irene Madrigal
- Jesús Eiris
- Laura Domènech Salgado
- Raquel Rabionet
- Tim M. Strom
- Naoko Ishihara
- Hidehito Inagaki
- Hiroki Kurahashi
- Tracy Dudding-Byth
- Elizabeth E. Palmer
- Michael Field
- Jozef Gecz
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Citations (8) - 2018 Human Genetics
- Nuria C. Bramswig
- Aida M Bertoli-Avella
- Beate Albrecht
- Aida I. Al Aqeel
- Amal Alhashem
- Nouriya Al-Sannaa
- Maissa Bah
- Katharina Bröhl
- Christel Depienne
- Nathalie Dorison
- Diane Doummar
- Nadja Ehmke
- Hasnaa M. Elbendary
- Svetlana Gorokhova
- Delphine Héron
- Denise Horn
- Kiely N. James
- Boris Keren
- Alma Kuechler
- Samira Ismail
- Mahmoud Y. Issa
- Isabelle Marey
- Michèle Mayer
- Jennifer McEvoy-Venneri
- André Mégarbané
- Cyril Mignot
- Sarar Mohamed
- Caroline Nava
- Nicole Philip
- Cecile Ravix
- Arndt Rolfs
- Abdelrahim Abdrabou Sadek
- Lara Segebrecht
- Valentina Stanley
- Camille Trautman
- Stephanie Valence
- Laurent Villard
- Thomas Wieland
- Hartmut Engels
- Tim M. Strom
- Maha S. Zaki
- Joseph G. Gleeson
- Hermann-Josef Lüdecke
- Peter Bauer
- Dagmar Wieczorek
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