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- 2021 Genetics in Medicine
- Holly K Harris
- Tojo Nakayama
- Jenny Lai
- Boxun Zhao
- Nikoleta Argyrou
- Cynthia S. Gubbels
- Aubrie Soucy
- Casie A. Genetti
- Victoria Suslovitch
- Lance H. Rodan
- George E. Tiller
- Gaetan Lesca
- Karen W. Gripp
- Reza Asadollahi
- Ada Hamosh
- Carolyn D. Applegate
- Peter D. Turnpenny
- Marleen Simon
- Catharina (Nienke) M.L. Volker-Touw
- Koen L.I. van Gassen
- Ellen van Binsbergen
- Rolph Pfundt
- Thatjana Gardeitchik
- Bert B.A. de Vries
- LaDonna Immken
- Catherine Buchanan
- Marcia C. Willing
- Tomi L. Toler
- Emily Fassi
- Laura D. Baker
- Fleur Vansenne
- Xiadong Wang
- Julian L. Ambrus
- Madeleine Fannemel
- Jennifer E. Posey
- Emanuele Agolini
- Antonio Novelli
- Anita Rauch
- Paranchai Boonsawat
- Christina Fagerberg
- Martin Larsen
- Maria Kibæk
- Audrey Labalme
- Alice Poisson
- Katelyn K. Payne
- Laurence E. Walsh
- Kimberly A. Aldinger
- Jorune Balciuniene
- Cara M. Skraban
- Christopher Gray
- Jill R. Murrell
- Caleb P. Bupp
- Giulia Pascolini
- Paola Grammatico
- Martin Broly
- Sébastien Küry
- Mathilde Nizon
- Iqra Ghulam Rasool
- Muhammad Yasir Zahoor
- Cornelia Kraus
- André Reis
- Muhammad Iqbal
- Kévin Uguen
- Séverine Audebert-Bellanger
- Claude Férec
- Sylvia Redon
- Janice Baker
- Yunhong Wu
- Guiseppe Zampino
- Steffan Syrbe
- Ines Brösse
- Rami Abou Jamra
- William B. Dobyns
- Lilian L Cohen
- Anne Blomhoff
- Cyril Mignot
- Boris Keren
- Thomas Courtin
- Pankaj B. Agrawal
- Alan H. Beggs
- Timothy W. Yu
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Citations (2) - 2020 medRxiv
- Holly K Harris
- Tojo Nakayama
- Jenny Lai
- Boxun Zhao
- Nikoleta Argyrou
- Cynthia S. Gubbels
- Aubrie Soucy
- Casie A. Genetti
- Lance H. Rodan
- George E. Tiller
- Gaetan Lesca
- Karen W. Gripp
- Reza Asadollahi
- Ada Hamosh
- Carolyn D. Applegate
- Peter D. Turnpenny
- Marleen E.H. Simon
- Catharina (Nienke) M.L. Volker-Touw
- Koen L.I. van Gassen
- Ellen van Binsbergen
- Rolph Pfundt
- Thatjana Gardeitchik
- Bert B.A. de Vries
- Ladonna L. Imken
- Catherine Buchanan
- Marcia C. Willing
- Tomi L. Toler
- Emily Fassi
- Laura D. Baker
- Fleur Vansenne
- Xiadong Wang
- Julian L. Ambrus
- Madeleine Fannemel
- Jennifer E. Posey
- Emanuele Agolini
- Antonio Novelli
- Anita Rauch
- Paranchai Boonsawat
- Christina Fagerberg
- Martin Jakob Larsen
- Maria Kibæk
- Audrey Labalme
- Alice Poisson
- Katelyn K. Payne
- Laurence E. Walsh
- Kimberly A. Aldinger
- Jorune Balciuniene
- Cara M. Skraban
- Christopher Gray
- Jill R. Murrell
- Caleb P. Bupp
- Giulia Pascolini
- Paola Grammatico
- Martin Broly
- Sébastien Kürry
- Mathilde Nizon
- Iqra Ghulam Rasool
- Muhammad Yasir Zahoor
- Cornelia Kraus
- André Reis
- Muhammad Iqbal
- Kévin Uguen
- Séverine Audebert-Bellanger
- Claude Férec
- Sylvia Redon
- Janice Baker
- Yunhong Wu
- Guiseppe Zampino
- Steffan Syrbe
- Ines Brösse
- Rami Abou Jamra
- William B. Dobyns
- Lilian L Cohen
- Pankaj B. Agrawal
- Alan H. Beggs
- Timothy W. Yu
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Citations (0) - 2020 Human Mutation
- Hanyin Cheng
- Simona Capponi
- Emma L. Wakeling
- Elaine Marchi
- Quan Li
- Mengge Zhao
- Chunhua Weng
- Piatek G. Stefan
- Helena Ahlfors
- Robert Kleyner
- Alan F. Rope
- Aimé Lumaka
- Prosper Tshilobo Lukusa
- Koenraad Devriendt
- Joris Vermeesch
- Jennifer E. Posey
- Elizabeth E. Palmer
- Lucinda Murray
- Eyby Leon
- Jullianne Diaz
- Lisa Worgan
- A. Mallawaarachchi
- Julie Vogt
- Sonja A. de Munnik
- Lauren Dreyer
- Gareth Baynam
- Lisa Ewans
- Zornitza Stark
- Sebastian Lunke
- Ana R. Gonçalves
- Gabriela Soares
- Jorge Oliveira
- Emily Fassi
- Marcia C. Willing
- Jeff L. Waugh
- Laurence Faivre
- Jean-Baptiste Rivière
- Sébastien Moutton
- Shehla Mohammed
- Katelyn Payne
- Laurence E. Walsh
- Amber Begtrup
- Maria J. Guillen Sacoto
- Ganka Douglas
- Nora Alexander
- Michael F. Buckley
- Paul R. Mark
- Lesley C. Adès
- Sarah A. Sandaradura
- James R. Lupski
- Tony Roscioli
- Pankaj B. Agrawal
- Antonie D. Kline
- Kai Wang
- H. T. Marc Timmers
- Gholson J. Lyon
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Citations (0) -
- Vincenzo Salpietro
- C. L. Dixon
- Haiwei H. Guo
- Oscar D. Bello
- Jana Vandrovcova
- Stephanie Efthymiou
- Reza Maroofian
- Gali Heimer
- L. Bürglen
- S. Valence
- Erin Torti
- Moritz Hacke
- J. Rankin
- H. Tariq
- E. Colin
- V. Procaccio
- Pasquale Striano
- Kshitij Mankad
- Andreas Lieb
- S. Chen
- L. Pisani
- Conceição Bettencourt
- Roope Männikkö
- Andreea Manole
- Alfredo Brusco
- Enrico Grosso
- Giovanni Battista Ferrero
- J. Armstrong-Moron
- S. Gueden
- O. Bar-Yosef
- Michal Tzadok
- Kristin G. Monaghan
- T. Santiago-Sim
- Rick Person
- M.T. Cho
- Rebecca Willaert
- Yongjin Yoo
- Jong-Hee Chae
- Y. Quan
- Huiqiong Wu
- Ting Wang
- Raphe Bernier
- Kun Xia
- A. Blesson
- M. Jain
- M. M. Motazacker
- B. Jaeger
- Amy L. Schneider
- Katja E. Boysen
- Alison M. Muir
- Candace T. Myers
- Ralitza H. Gavrilova
- L. Gunderson
- Laura E. Schultz-Rogers
- Eric W. Klee
- D. Dyment
- M. Osmond
- M. Parellada
- C. Llorente
- J. Gonzalez-Penas
- Angel Carracedo
- A. van Haeringen
- Claudia A. L. Ruivenkamp
- Caroline Nava
- Delphine Héron
- R. Nardello
- M. Iacomino
- Carlo Minetti
- A. Skabar
- A. Fabretto
- Michael G. Hanna
- E. Bugiardini
- I. Hostettler
- B O’Callaghan
- Asis Khan
- A. Cortese
- E. O'Connor
- W. Y. Yau
- T. Bourinaris
- R. Kaiyrzhanov
- Viorica Chelban
- M. Madej
- M. C. Diana
- M. S. Vari
- M. Pedemonte
- C. Bruno
- G. Balagura
- M. Scala
- C. Fiorillo
- Lino Nobili
- N. T. Malintan
- María N. Zanetti
- Shyam S. Krishnakumar
- Gabriele Lignani
- James E.C. Jepson
- P Broda
- Sara Baldassari
- Plinio Rossi
- F. Fruscione
- Francesca Madia
- Monica Traverso
- P. De Marco
- Belén Pérez-Dueñas
- F. Munell
- Yamna Kriouile
- M. El Khorassani
- Blagovesta Marinova Karashova
- Daniela Avdjieva
- Hadil Kathom
- Radka Tincheva
- L. Van Maldergem
- Wolfgang Nachbauer
- Sylvia Boesch
- A. Gagliano
- E. Amadori
- Jatinder S. Goraya
- Tipu Sultan
- Salman Kirmani
- Shahnaz Ibrahim
- F. Jan
- Jun Mine
- Selina Banu
- Pierangelo Veggiotti
- Gian Vincenzo Zuccotti
- Michel D. Ferrari
- A.M.J.M. van den Maagdenberg
- Alberto Verrotti
- Gian Luigi Marseglia
- Salvatore Savasta
- Miguel A. Soler
- Carmela Scuderi
- Eugenia Borgione
- Roberto Chimenz
- Eloisa Gitto
- Valeria Dipasquale
- A. Sallemi
- M. Fusco
- Caterina Cuppari
- Maria Concetta Cutrupi
- Martino Ruggieri
- A Cama
- Valeria Capra
- Niccolo E. Mencacci
- Richard G. Boles
- Namrata Gupta
- M. Kabra
- Savvas Papacostas
- Eleni Zamba Papanicolaou
- Efthymios Dardiotis
- Shazia Maqbool
- Nuzhat Noureen Rana
- Osama Atawneh
- S. Y. Lim
- F. Shaikh
- Georgios Koutsis
- Marianthi Breza
- Domenico Coviello
- Yves Dauvilliers
- Issam Al-Khawaja
- M. Alkhawaja
- Fuad Al Mutairi
- Tanya Stojkovic
- Veronica Ferrucci
- Massimo Zollo
- Fowzan S. Alkuraya
- Maria Kinali
- H. Sherifa
- H. Benrhouma
- I. B. Y. Turki
- M. Tazir
- M. Obeid
- S. Bakhtadze
- N. W. Saadi
- M. S. Zaki
- C. C. Triki
- Fabio Benfenati
- S. Gustincich
- M. Kara
- Vincenzo Belcastro
- Nicola Specchio
- Guiseppe Capovilla
- Ehsan Ghayoor Karimiani
- A.M. Salih
- N. U. Okubadejo
- O. O. Ojo
- O. O. Oshinaike
- O Oguntunde
- K. Wahab
- A. H. Bello
- S. Abubakar
- Y. Obiabo
- E. Nwazor
- O Ekenze
- U. Williams
- A. Iyagba
- L Taiwo
- M Komolafe
- K. Senkevich
- C. Shashkin
- N. Zharkynbekova
- K. Koneyev
- G. Manizha
- M. Isrofilov
- U. Guliyeva
- K. Salayev
- S. Khachatryan
- S. Rossi
- G. Silvestri
- Nourelhoda A. Haridy
- L.A. Ramenghi
- Georgia Xiromerisiou
- Emanuele David
- M’hammed Aguennouz
- L. Fidani
- C. Spanaki
- Arianna Tucci
- Miquel Raspall-Chaure
- M. Chez
- A. Tsai
- Emily Fassi
- Marwan Shinawi
- J. N. Constantino
- R. De Zorzi
- Sara Fortuna
- F. Kok
- Boris Keren
- Dominique Bonneau
- Min-Koo Choi
- Bruria Ben-Zeev
- Federico Zara
- Heather C. Mefford
- Ingrid E. Scheffer
- Jill Clayton-Smith
- Alfons Macaya
- James E. Rothman
- Evan E. Eichler
- Dimitri M. Kullmann
- Henry Houlden
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Citations (62) -
- Scott Bell
- Justine Rousseau
- Huashan Peng
- Zahia Aouabed
- Pierre Priam
- Jean-Francois Theroux
- Malvin Jefri
- Arnaud Tanti
- Hanrong Wu
- Ilaria Kolobova
- Heika Silviera
- Karla Manzano-Vargas
- Sophie Ehresmann
- Fadi F. Hamdan
- Nuwan Hettige
- Xin Zhang
- Lilit Antonyan
- Christina Nassif
- Lina Ghaloul-Gonzalez
- Jessica Sebastian
- Jerry Vockley
- Amber Begtrup
- Ingrid M. Wentzensen
- Amy Crunk
- Robert D. Nicholls
- Kristin Herman
- Joshua L. Deignan
- Walla Al-Hertani
- Stephanie Efthymiou
- Vincenzo Salpietro
- Noriko Miyake
- Yoshio Makita
- Naomichi Matsumoto
- Rune Østern
- Gunnar Houge
- Maria Hafström
- Emily Fassi
- Henry Houlden
- Jolien S. Klein Wassink-Ruiter
- Dominic Nelson
- Amy Goldstein
- Tabib Dabir
- Julien van Gils
- Thomas Bourgeron
- Richard Delorme
- Gregory M. Cooper
- José E. Martínez
- Candice R. Finnila
- Lionel Carmant
- Anne Lortie
- Renske Oegema
- Koen L.I. van Gassen
- Sarju G. Mehta
- Dagmar Huhle
- Rami Abou Jamra
- Sonja Martin
- Han G. Brunner
- Dick Lindhout
- Margaret G. Au
- John M. Graham
- C Coubes
- Gustavo Turecki
- Simon Gravel
- Naguib Mechawar
- Elsa Rossignol
- Jacques L. Michaud
- Julie Lessard
- Carl Ernst
- Philippe M. Campeau
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Citations (22) - 2019 Genetics in Medicine
- E.D.H. Konrad
- N. Nardini
- Almuth Caliebe
- I. Nagel
- D. Young
- G. Horvath
- Stephanie L. Santoro
- C. Shuss
- Alban Ziegler
- Dominique Bonneau
- Marlies Kempers
- Rolph Pfundt
- Eric Legius
- A. Bouman
- K.E. Stuurman
- Katrin Õunap
- Sander Pajusalu
- Monica H. Wojcik
- G. Vasileiou
- G. Le guyader
- H.M. Schnelle
- Siren Berland
- Evelien Zonneveld-Huijssoon
- S. Kersten
- Aditi Gupta
- Patrick R. Blackburn
- Ellingson
- Matthew J. Ferber
- Radhika Dhamija
- Eric W. Klee
- Meriel McEntagart
- Klaske D. Lichtenbelt
- A. Kenney
- Samantha A. Vergano
- R. Abou Jamra
- K. Platzer
- M. Ella Pierpont
- D. Khattar
- Robert J. Hopkin
- R.J. Martin
- Marjolijn C.J. Jongmans
- V.Y. Chang
- Julian A. Martinez-Agosto
- Outi Kuismin
- Mitja Kurki
- Olli Pietiläinen
- Aarno Palotie
- T.J. Maarup
- Diana Johnson
- Katja Venborg Pedersen
- Lone W Laulund
- Sally Ann Lynch
- Moira Blyth
- K. Prescott
- N Canham
- R. Ibitoye
- Eva H. Brilstra
- Marwan Shinawi
- Emily Fassi
- Heinrich Sticht
- A. Gregor
- H. Van Esch
- Christiane Zweier
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Citations (14) - 2019 Genetics in Medicine
- Ash Zawerton
- Cyril Mignot
- Ashley N. Sigafoos
- Patrick R. Blackburn
- Abdul Haseeb
- Kirsty McWalter
- Shoji Ichikawa
- Caroline Nava
- Boris Keren
- Perrine Charles
- Isabelle Marey
- Anne-Claude Tabet
- Jonathan Levy
- Laurence Perrin
- Andreas Hartmann
- Gaetan Lesca
- Caroline Schluth-Bolard
- Pauline Monin
- Sophie Dupuis-Girod
- Maria J. Guillen Sacoto
- Rhonda E. Schnur
- Zehua Zhu
- Alice Poisson
- Salima El Chehadeh
- Yves Alembik
- Ange-Line Bruel
- Daphné Lehalle
- Sophie Nambot
- Sébastien Moutton
- Sylvie Odent
- Sylvie Jaillard
- Christèle Dubourg
- Yvonne Hilhorst-Hofstee
- Tina Barbaro-Dieber
- Lucía Ortega
- Elizabeth J. Bhoj
- Diane Masser-Frye
- Lynne M. Bird
- Kristin Lindstrom
- Keri M. Ramsey
- Vinodh Narayanan
- Emily Fassi
- Marcia C. Willing
- Trevor Cole
- Claire G. Salter
- Rhoda Akilapa
- Anthony Vandersteen
- Natalie Canham
- Patrick Rump
- Erica H. Gerkes
- Jolien S. Klein Wassink-Ruiter
- Emilia K. Bijlsma
- Mariëtte J.V. Hoffer
- Marcelo Vargas
- Antonina Wojcik
- Florian Cherik
- Christine Francannet
- Jill A. Rosenfeld
- Keren Machol
- Daryl A. Scott
- Carlos A. Bacino
- Xia Wang
- Gary D. Clark
- Marta Bertoli
- Simon Zwolinski
- Rhys Huw Thomas
- Ela Akay
- Richard Chang
- Rebekah Bressi
- Rossana Sanchez Russo
- Myriam Srour
- Laura Russell
- Anne-Marie E. Goyette
- Lucie Dupuis
- Roberto Mendoza-Londono
- Catherine Karimov
- Maries Joseph
- Mathilde Nizon
- Benjamin Cogné
- Alma Kuechler
- Amélie Piton
- Eric W. Klee
- Véronique Lefebvre
- Karl J. Clark
- Christel Depienne
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Citations (7) - 2019 Human Mutation
- Hanyin Cheng
- Simona Capponi
- Emma Wakeling
- Elaine Marchi
- Quan Li
- Mengge Zhao
- Chunhua Weng
- Piatek G. Stefan
- Helena Ahlfors
- Robert Kleyner
- Alan F. Rope
- Aimé Lumaka
- Prosper Tshilobo Lukusa
- Koenraad Devriendt
- Joris Vermeesch
- Jennifer E. Posey
- Elizabeth E. Palmer
- Lucinda Murray
- Eyby Leon
- Jullianne Diaz
- Lisa Worgan
- Amalia Mallawaarachchi
- Julie Vogt
- Sonja A. de Munnik
- Lauren Dreyer
- Gareth Baynam
- Lisa Ewans
- Zornitza Stark
- Sebastian Lunke
- Ana Gonçalves
- Gabriela Soares
- Jorge Oliveira
- Emily Fassi
- Marcia C. Willing
- Jeff L. Waugh
- Laurence Faivre
- Jean-Baptiste Rivière
- Sébastien Moutton
- Shehla Mohammed
- Katelyn Payne
- Laurence E. Walsh
- Amber Begtrup
- Maria J. Guillen Sacoto
- Ganka Douglas
- Nora Alexander
- Michael F. Buckley
- Paul R. Mark
- Lesley C. Adès
- Sarah A. Sandaradura
- James R. Lupski
- Tony Roscioli
- Pankaj B. Agrawal
- Antonie D. Kline
- Kai Wang
- H.T. Marc Timmers
- Gholson J. Lyon
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Citations (10) - 2018 Brain
- Jean Chemin
- Karine Siquier-Pernet
- Michael Nicouleau
- Giulia Barcia
- Ali Ahmad
- Daniel Medina-Cano
- Sylvain Hanein
- Nami Altin
- Laurence Hubert
- Christine Bole-Feysot
- Cécile Fourage
- Patrick Nitschke
- Julien Thevenon
- Marlène Rio
- Pierre Blanc
- Céline Vidal
- Nadia Bahi-Buisson
- Isabelle Desguerre
- Arnold Munnich
- Stanislas Lyonnet
- Nathalie Boddaert
- Emily Fassi
- Marwan Shinawi
- Holly H. Zimmerman
- Jeanne Amiel
- Laurence Faivre
- Laurence Colleaux
- Philippe Lory
- Vincent Cantagrel
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Citations (36)
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