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Rolph Pfundt
- Radboud University Nijmegen
- Radboud University Nijmegen Medical Centre
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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) - 2021 bioRxiv
- Marjolein J.A. Weerts
- Kristina Lanko
- Francisco J. Guzmán-Vega
- Adam Jackson
- Reshmi Ramakrishnan
- Kelly J. Cardona-Londoño
- Karla A. Peña-Guerra
- Yolande van Bever
- Barbara W. van Paassen
- Anneke Kievit
- Marjon van Slegtenhorst
- Nicholas M. Allen
- Caroline M. Kehoe
- Hannah K. Robinson
- Lewis Pang
- Selina H Banu
- Mashaya Zaman
- Stephanie Efthymiou
- Henry Houlden
- Irma Järvelä
- Leena Lauronen
- Tuomo Määttä
- Isabelle Schrauwen
- Suzanne M. Leal
- Claudia A. L. Ruivenkamp
- Daniela Q.C.M. Barge-Schaapveld
- Cacha M. P. C. D. Peeters-Scholte
- Hamid Galehdari
- Neda Mazaheri
- Sanjay M. Sisodiya
- Victoria Harrison
- Angela Sun
- Jenny Thies
- Luis Alberto Pedroza
- Yana Lara-Taranchenko
- Ivan K. Chinn
- James R. Lupski
- Alexandra Garza-Flores
- Jefferey McGlothlin
- Lin Yang
- Shaoping Huang
- Xiaodong Wang
- Tamison Jewett
- Gretchen E. Rosso
- Xi Lin
- Shehla Mohammed
- J. Lawrence Merritt
- Ghayda M. Mirzaa
- Andrew E. Timms
- Joshua Scheck
- Mariet W. Elting
- Abeltje M Polstra
- Lauren Schenck
- Maura R.Z. Ruzhnikov
- Annalisa Vetro
- Martino Montomoli
- Renzo Guerrini
- Daniel C. Koboldt
- Theresa Mihalic Mosher
- Matthew Pastore
- Kim L. McBride
- Jing Peng
- Zou Pan
- Marjolein H. Willemsen
- Susanne Koning
- Peter D. Turnpenny
- Bert B.A. de Vries
- Christian Gilissen
- Rolph Pfundt
- Melissa Lees
- Stephen R. Braddock
- Kara C. Klemp
- Fleur Vansenne
- Marielle E. van Gijn
- Catherine Quindipan
- Matthew A. Deardorff
- J. Austin Hamm
- Abbey M. Putnam
- Rebecca Baud
- Laurence E. Walsh
- Sally Ann Lynch
- Julia Baptista
- Richard Person
- Kristin G. Monaghan
- Amy Crunk
- Jennifer Keller-Ramey
- Adi Reich
- Houda Zghal Elloumi
- Marielle Alders
- Jennifer Kerkhof
- Haley McConkey
- Sadegheh Haghshenas
- Reza Maroofian
- Bekim Sadikovic
- Siddharth Banka
- Stefan T. Arold
- Tahsin Stefan Barakat
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Citations (1) -
- Maria del Rocio Pérez Baca
- Eva Jacobs
- Lies Vantomme
- Mareike Bauer
- Melissa Bellini
- Claire Beneteau
- Natasha Brown
- David Coman
- Laurenz De Cock
- Annelies Dheedene
- Tine Duelund Hjortshøj
- Maria Lascone
- Katrin Hoffmann
- Bertrand Isidor
- Julie R. Jones
- Jürgen Kohlhase
- Cédric Le Caignec
- Alysia Lovgren
- Mike Lyons
- Philippe Lysy
- Carlo M. Marcelis
- Sandra Mercie
- Arnaud Molin
- Mathilde Nizon
- Melanie OLeary
- María Palomares
- Rolph Pfundt
- Kara Ranguin
- Nicole Revencu
- Lindsay Rhodes
- Fernando Santos Simmaro
- Ellie Seaby
- Ruth Sheffer
- Lot Snijders Blok
- Kristina Sorensens
- Zornitza Stark
- Radka Stoeva
- Chloe A Stutterd
- Pernille Torring
- Pablo Villavicencio-Lorini
- Marie Vincent
- Dorothea Wand
- Björn Menten
- Bert Callewaert
- Sarah Vergult
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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) -
- Lindsey D. Goodman
- Heidi Cope
- Zelha Nil
- Thomas A. Ravenscroft
- Wu-Lin Charng
- Shenzhao Lu
- An-Chi Tien
- Rolph Pfundt
- David A. Koolen
- Charlotte A Haaxma
- Hermine E. Veenstra-Knol
- Jolien S. Klein Wassink-Ruiter
- Marijke R. Wevers
- Melissa Jones
- Laurence E. Walsh
- Victoria H. Klee
- Miel Theunis
- Eric Legius
- Dora Steel
- Katy Barwick
- Manju A. Kurian
- Shekeeb S. Mohammad
- Russell C. Dale
- Paulien A. Terhal
- Ellen van Binsbergen
- Brian Kirmse
- Bethany Robinette
- Benjamin Cogné
- Bertrand Isidor
- Theresa A. Grebe
- Peggy Kulch
- Bryan E. Hainline
- Katherine Sapp
- Eva Morava
- Eric W. Klee
- Erica L. Macke
- Pamela Trapane
- Christopher J. Spencer
- Yue Si
- Amber Begtrup
- Matthew J. Moulton
- Debdeep Dutta
- Oguz Kanca
- Michael F. Wangler
- Shinya Yamamoto
- Hugo J. Bellen
- Queenie K.-G. Tan
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Citations (1) -
- 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) -
- Maria del Rocio Pérez Baca
- Eva Jacobs
- Lies Vantomme
- Mareike Bauer
- Melissa Bellini
- Claire Beneteau
- Natasha J. Brown
- David Coman
- Laurenz De Cock
- Annelies Dheedene
- Tine Duelund Hjortshøj
- Maria Lascone
- Katrin Hoffmann
- Bertrand Isidor
- Julie R. Jones
- Jürgen Kohlhase
- Cédric Le Caignec
- Alysia Kern Lovgren
- Mike Lyons
- Philippe Lysy
- Carlo Marcelis
- Sandra Mercie
- Arnaud Molin
- Mathilde Nizon
- Melanie O’Leary
- María Palomares
- Rolph Pfundt
- Kara Ranguin
- Nicole Revencu
- Lindsay Rhodes
- Fernando Santos Simmaro
- Ellie Seaby
- Ruth Sheffer
- Lot Snijders Blok
- Kristina Sorensens
- Zornitza Stark
- Radka Stoeva
- Chloe A Stutterd
- Pernille Torring
- Pablo Villavicencio-Lorini
- Marie Vincent
- Dorothea Wand
- Björn Menten
- Bert Callewaert
- Sarah Vergult
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