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- 2019 Genetics in Medicine
- Cyril Mignot
- Aoife McMahon
- Claire Bar
- Philippe M. Campeau
- Claire Davidson
- Julien Buratti
- Caroline Nava
- Marie Line Jacquemont
- Marilyn Tallot
- Mathieu Milh
- Patrick Edery
- Pauline Marzin
- Giulia Barcia
- Christine Barnerias
- Claude Besmond
- Thierry Bienvenu
- Ange-Line Bruel
- Ledia Brunga
- Berten Ceulemans
- Christine Coubes
- Ana G. Cristancho
- Fiona Cunningham
- Marie-Bertille Dehouck
- Elizabeth J. Donner
- Bénédicte Duban Bedu
- Christèle Dubourg
- Elena Gardella
- Julie Gauthier
- David Geneviève
- Stéphanie Gobin-Limballe
- Ethan M. Goldberg
- Eveline Hagebeuk
- Fadi F. Hamdan
- Miroslava Hancarova
- Laurence Hubert
- Christine Ioos
- Shoji Ichikawa
- Sandra Janssens
- Hubert Journel
- Anna Kaminska
- Boris Keren
- Marije Koopmans
- Caroline Lacoste
- Petra Laššuthová
- Damien Lederer
- Daphné Lehalle
- Dragan Marjanovic
- Julia Metreau
- Jacques L. Michaud
- Kathryn Miller
- Berge A. Minassian
- Joannella Morales
- Marie-Laure Moutard
- Arnold Munnich
- Xilma R. Ortiz-Gonzalez
- Jean-Marc Pinard
- Darina Prchalova
- Audrey Putoux
- Chloé Quélin
- Alyssa R. Rosen
- Joëlle Roume
- Elsa Rossignol
- Marleen Simon
- Thomas Smol
- Natasha Shur
- Ivan Shelihan
- Katalin Sterbova
- Emílie Vyhnálková
- Catheline Vilain
- Julie Soblet
- Guillaume Smits
- Samuel P. Yang
- Jasper J. van der Smagt
- Peter M. van Hasselt
- Marjan J.A. van Kempen
- Sarah Weckhuysen
- Ingo Helbig
- Laurent Villard
- Delphine Héron
- Bobby P. C. Koeleman
- Rikke S. Møller
- Gaetan Lesca
- Katherine L. Helbig
- Rima Nabbout
- Nienke E. Verbeek
- Christel Depienne
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Citations (27) - 2019 Genetics in Medicine
- Erin Torti
- Boris Keren
- Elizabeth E. Palmer
- Zehua Zhu
- Alexandra Afenjar
- Ilse J. Anderson
- Marisa V. Andrews
- Celia Atkinson
- Margaret G. Au
- Susan A. Berry
- Kevin M. Bowling
- Jackie Boyle
- Julien Buratti
- Sara S. Cathey
- Perrine Charles
- Benjamin Cogné
- Thomas Courtin
- Luis F. Escobar
- Sabra Ledare Finley
- John M. Graham
- Dorothy K. Grange
- Delphine Héron
- Stacy Hewson
- Susan M. Hiatt
- Kathleen Hibbs
- Parul Jayakar
- Louisa Kalsner
- Lise Larcher
- Gaetan Lesca
- Paul R. Mark
- Kathryn Miller
- Caroline Nava
- Mathilde Nizon
- G. Shashidhar Pai
- John G. Pappas
- Gretchen Parsons
- Katelyn Payne
- Audrey Putoux
- Rachel Rabin
- Isabelle Sabatier
- Marwan Shinawi
- Natasha Shur
- Steven A. Skinner
- Stephanie Valence
- Hannah Warren
- Sandra Whalen
- Amy Crunk
- Ganka Douglas
- Kristin G. Monaghan
- Richard E. Person
- Rebecca Willaert
- Benjamin D. Solomon
- Jane Juusola
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Citations (8) - 2019 Human MutationShow All
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Citations (5) -
- Katrina Tatton-Brown
- Anna Zachariou
- Chey Loveday
- Anthony Renwick
- Shazia Mahamdallie
- Lise Aksglaede
- Diana Baralle
- Daniela Q.C.M. Barge-Schaapveld
- Moira Blyth
- Mieke C. Bouma
- Jeroen Breckpot
- Beau Crabb
- Tabib Dabir
- Valerie Cormier Daire
- Christine Fauth
- Richard Fisher
- Blanca Gener
- David Goudie
- Tessa Homfray
- Matthew Hunter
- Agnete Jørgensen
- Sarina G. Kant
- Cathy Kirally-Borri
- David A. Koolen
- Ajith Kumar
- Anatalia Labilloy
- Melissa Lees
- Carlo Marcelis
- Catherine L. Mercer
- Cyril Mignot
- Kathryn Miller
- Katherine Neas
- Ruth Newbury-Ecob
- Daniela T. Pilz
- Renata Posmyk
- Carlos E. Prada
- Keri Ramsey
- Linda M. Randolph
- Angelo Selicorni
- Deborah J. Shears
- Mohnish Suri
- I. Karen Temple
- Peter D Turnpenny
- Lionel Val Maldergem
- Vinod Varghese
- Hermine E. Veenstra-Knol
- Naomi Yachelevich
- Laura Yates
- Deciphering Developmental Disorders (Ddd) Study
- Nazneen Rahman
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Citations (42) - 2018 Genetics in Medicine
- Cyril Mignot
- Aoife McMahon
- Claire Bar
- Philippe M. Campeau
- Claire Davidson
- Julien Buratti
- Caroline Nava
- Marie Line Jacquemont
- Marilyn Tallot
- Mathieu Milh
- Patrick Edery
- Pauline Marzin
- Giulia Barcia
- Christine Barnerias
- Claude Besmond
- Thierry Bienvenu
- Ange-Line Bruel
- Ledia Brunga
- Berten Ceulemans
- Christine Coubes
- Ana G. Cristancho
- Fiona Cunningham
- Marie-Bertille Dehouck
- Elizabeth J Donner
- Bénédicte Duban Bedu
- Christele Dubourg
- Elena Gardella
- Julie Gauthier
- David Geneviève
- Stéphanie Gobin-Limballe
- Ethan M. Goldberg
- Eveline Hagebeuk
- Fadi F. Hamdan
- Miroslava Hancarova
- Laurence Hubert
- Christine Ioos
- Shoji Ichikawa
- Sandra Janssens
- Hubert Journel
- Anna Kaminska
- Boris Keren
- Marije Koopmans
- Caroline Lacoste
- Petra Laššuthová
- Damien Lederer
- Daphné Lehalle
- Dragan Marjanovic
- Julia Metreau
- Jacques L. Michaud
- Kathryn Miller
- Berge A. Minassian
- Joannella Morales
- M.L. Moutard
- Arnold Munnich
- Xilma R. Ortiz-Gonzalez
- Jean-Marc Pinard
- Darina Prchalova
- Audrey Putoux
- Chloé Quélin
- Alyssa R. Rosen
- Joëlle Roume
- Elsa Rossignol
- Marleen Simon
- Thomas Smol
- Natasha Shur
- Ivan Shelihan
- Katalin Sterbova
- Emílie Vyhnálková
- Catheline Vilain
- Julie Soblet
- Guillaume Smits
- Samuel P. Yang
- Jasper J. van der Smagt
- Peter M. van Hasselt
- Marjan J.A. van Kempen
- Sarah Weckhuysen
- Ingo Helbig
- Laurent Villard
- Delphine Héron
- Bobby P. C. Koeleman
- Rikke S. Møller
- Gaetan Lesca
- Katherine L. Helbig
- Rima Nabbout
- Nienke E. Verbeek
- Christel Depienne
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- Save
Citations (0) - 2017 Annals of Neurology
- Yongjin Yoo
- Jane Jung
- Yoo Na Lee
- Y. H. Lee
- Hyosuk Cho
- Eunjung Na
- Jea Yeok Hong
- Eun Jin Kim
- Jin Sook Lee
- Je Sang Lee
- Chansik Hong
- Sang-Yoon Park
- Jinhong Wie
- Kathryn Miller
- Natasha Shur
- Cheryl Clow
- Roseànne S. Ebel
- Suzanne D. DeBrosse
- Lindsay B. Henderson
- Rebecca Willaert
- Christopher Castaldi
- Irina Tikhonova
- Kaya Bilguvar
- Shrikant Mane
- Ki Joong Kim
- Yong Seung Hwang
- Seok-Geun Lee
- Insuk So
- Byung Chan Lim
- Hee Jung Choi
- Jae Young Seong
- Yong Beom Shin
- H Jung
- Jong-Hee Chae
- Murim Choi
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Citations (39) -
- Anne Slavotinek
- Maurizio Risolino
- Marta Losa
- Megan T. Cho
- Kristin G. Monaghan
- Dina Schneidman-Duhovny
- Sarah Parisotto
- Johanna C. Herkert
- Alexander P. A. Stegmann
- Kathryn Miller
- Natasha Shur
- Jacqueline Chui
- Eric Muller
- Suzanne D. DeBrosse
- Justin O. Szot
- Gavin Chapman
- Nicholas Pachter
- David S. Winlaw
- Bryce A. Mendelsohn
- Joline Dalton
- Kyriakie M Sarafoglou
- Peter I. Karachunski
- Jane M. Lewis
- Helio Pedro
- Sally L. Dunwoodie
- Licia Selleri
- Joseph T.C. Shieh
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Citations (25) -
- Francesco Vetrini
- Lisa C. A. D’Alessandro
- Zeynep Coban Akdemir
- Alicia Braxton
- Mahshid S. Azamian
- Mohammad K. Eldomery
- Kathryn Miller
- Chelsea Kois
- Virginia Sack
- Natasha Shur
- Asha Rijhsinghani
- Jignesh Chandarana
- Yan Ding
- Judy Holtzman
- Shalini N. Jhangiani
- Donna M. Muzny
- Richard A. Gibbs
- Christine M. Eng
- Neil A. Hanchard
- Tamar Harel
- Jill A. Rosenfeld
- John W. Belmont
- James R. Lupski
- Yaping Yang
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Citations (37)
- 1