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- 2021 Genetics in Medicine
- Agustí Rodriguez-Palmero
- Melissa Maria Boerrigter
- David Gómez-Andrés
- Kimberly A. Aldinger
- Íñigo Marcos-Alcalde
- Bernt Popp
- David B. Everman
- Alysia Kern Lovgren
- Stéphanie Arpin
- Vahid Bahrambeigi
- Gea Beunders
- Anne Marie Bisgaard
- V A Bjerregaard
- Ange-Line Bruel
- Thomas D. Challman
- Benjamin Cogné
- Christine Coubes
- Stella A. de Man
- Anne-Sophie Denommé-Pichon
- Thomas J. Dye
- Frances Elmslie
- Lars Feuk
- Sixto García-Miñaur
- Tracy S. Gertler
- Elisa Giorgio
- Nicolas Gruchy
- Tobias B. Haack
- Chad R. Haldeman-Englert
- Bjørn Ivar Haukanes
- Juliane Hoyer
- Anna C. E. Hurst
- Bertrand Isidor
- Maria Johansson-Soller
- Sulagna Kushary
- Malin Kvarnung
- Yuval Landau
- Kathleen A. Leppig
- Anna Lindstrand
- Lotte Kleinendorst
- Alex MacKenzie
- Giorgia Mandrile
- Bryce A. Mendelsohn
- Setareh Moghadasi
- Jenny Morton
- Sébastien Moutton
- Amelie J. Müller
- Melanie C. O’Leary
- Marta Pacio Miguez
- María Palomares-Bralo
- Sumit Parikh
- Rolph Pfundt
- Ben Pode-Shakked
- Anita Rauch
- Elena Repnikova
- Anya Revah Politi
- Meredith J Ross
- Claudia A. L. Ruivenkamp
- Elisabeth Sarrazin
- Juliann M. Savatt
- Agatha Schlüter
- Bitten Schönewolf-Greulich
- Zohra Shad
- Charles Shaw-Smith
- Joseph T.C. Shieh
- Motti Shohat
- Stephanie Spranger
- Heidi Thiese
- Frédéric Tran-Mau-Them
- Bregje W.M. van Bon
- Ineke van de Burgt
- Ingrid M.B.H. van de Laar
- Esmée van Drie
- Mieke M. van Haelst
- Conny M. A. van Ravenswaaij-Arts
- Edgard Verdura
- Antonio Vitobello
- Stephan Waldmüller
- Sharon Whiting
- Christiane Zweier
- Carlos E. Prada
- Bert B.A. de Vries
- William B. Dobyns
- Simone Frizell Reiter
- Paulino Gómez-Puertas
- Aurora Pujol
- Zeynep Tümer
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Citations (2) -
- Paul A. Mulder
- I. D. C. van Balkom
- A M Landlust
- Manuela Priolo
- Leonie A. Menke
- I H Acero
- Fowzan S. Alkuraya
- P. Arias
- Laura Bernardini
- Emilia K. Bijlsma
- Trevor Cole
- Christine Coubes
- I. Dapia
- Sally Davies
- N. Di Donato
- Nursel Elçioğlu
- Jill A. Fahrner
- Alison Foster
- N.G. Gonzalez
- I. Huber
- Maria Iascone
- A-S Kaiser
- Arveen Kamath
- Kreepa Kooblall
- Pablo Lapunzina
- Jan Liebelt
- Sally Ann Lynch
- Saskia M. Maas
- C. Mammi
- Inge B. Mathijssen
- Shane McKee
- G M Mirzaa
- Tara Montgomery
- Dorothée Neubauer
- T. E. Neumann
- L Pintomalli
- Maria Antonietta Pisanti
- Astrid S. Plomp
- Sue Price
- Claire G. Salter
- Fernando Santos-Simarro
- Pierre Sarda
- Denny Schanze
- Mabel Segovia
- Charles Shaw-Smith
- Sarah F. Smithson
- Mohnish Suri
- K Tatton-Brown
- Jair Tenorio
- Rajesh V. Thakker
- Rita Valdez
- A. van Haeringen
- J.M. van Hagen
- Martin Zenker
- M Zollino
- W W Dunn
- S Piening
- Raoul C. M. Hennekam
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Citations (8) -
- A. Rodriguez-Palmero Seuma
- M. Boerrigter
- Giorgia Mandrile
- Alessandra Pelle
- Elisa Giorgio
- Anna Lindstrand
- M Johansson
- Malin Kvarnung
- David B. Everman
- Vahid Bahrambeigi
- Alex MacKenzie
- Jenny Morton
- Claudia A. L. Ruivenkamp
- Thomas D. Challman
- Anna C. E. Hurst
- Juliane Hoyer
- Frances Elmslie
- T Dye
- Bertrand Isidor
- Chad R. Haldeman-Englert
- D. Gomez-Andres
- Agatha Schlüter
- S. De Man
- Joseph T.C. Shieh
- Carlos E. Prada
- Sébastien Moutton
- Anne-Sophie Denommé-Pichon
- S. Motti
- Ange Line Bruel
- F. Tran-Mau-Them
- Simone F Reiter
- C.M.A. van Ravenswaaij-Arts
- Charles Shaw-Smith
- Sumit Parikh
- K. Aldinger
- A. Lovgren
- Anita Rauch
- M. Ross
- Paulino Gómez-Puertas
- B. B. A. De Vries
- Aurora Pujol
- Zeynep Tümer
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Citations (0) - 2020 Kidney International
- Martina Živná
- Kendrah Kidd
- Mohamad Zaidan
- Petr Vyleťal
- Veronika Barešová
- Kateřina Hodaňová
- Jana Sovová
- Hana Hartmannová
- Miroslav Votruba
- Helena Trešlová
- Ivana Jedličková
- Jakub Sikora
- Helena Hůlková
- Victoria Robins
- Aleš Hnízda
- Jan Živný
- Gregory Papagregoriou
- Laurent Mesnard
- Bodo B. Beck
- Andrea Wenzel
- Kalman Tory
- Karsten Haeffner
- Matthias T.F. Wolf
- Michael E. Bleyer
- John A. Sayer
- Albert C.M. Ong
- Balogh L
- Anna Jakubowska
- Agnieszka Laszkiewicz
- Rhian L. Clissold
- Charles Shaw-Smith
- Raj Munshi
- Robert M. Haws
- Claudia Izzi
- Irene Capelli
- Marisa Santostefano
- Claudio Graziano
- Francesco Scolari
- Amy Sussman
- Howard Trachtman
- Stéphane Decramer
- Marie Matignon
- Philippe Grimbert
- Lawrence R. Shoemaker
- Christoforos Stavrou
- Mayssa Abdelwahed
- Neila Belghith
- Matthew Sinclair
- Kathleen Claes
- Tal Kopel
- Sharon M. Moe
- Constantinos Deltas
- Bertrand Knebelmann
- Luca Rampoldi
- Stanislav Kmoch
- Anthony J. Bleyer
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Citations (5) -
- Stuart Aitken
- Helen V. Firth
- Jeremy F. McRae
- Mihail Halachev
- Usha Kini
- Michael Parker
- Melissa Lees
- Katherine Lachlan
- Ajoy Sarkar
- Shelagh Joss
- Miranda Splitt
- Shane McKee
- Andrea H. Németh
- Richard H. Scott
- Caroline F. Wright
- Joseph A. Marsh
- Matthew E. Hurles
- David Fitzpatrick
- Tomas Fitzgerald
- Sebastian S. Gerety
- Wendy D Jones
- M. van Kogelenberg
- Daniel A. King
- J. McRae
- Katherine I. Morley
- Vijaya Parthiban
- Saeed Al-Turki
- Kirsty Ambridge
- Daniel M Barrett
- Tanya Bayzetinova
- Stephen Clayton
- Eve L. Coomber
- Susan M. Gribble
- Peter B. Jones
- Netravathi Krishnappa
- Laura E Mason
- Anna Middleton
- Raymond D. Miller
- Elena Prigmore
- Diana Rajan
- Alejandro Sifrim
- Adrian Tivey
- M. Ahmed
- Nadia Akawi
- Robert Andrews
- U. Anjum
- Hayley Archer
- Ruth Armstrong
- Meena Balasubramanian
- Ruby Banerjee
- D. Barelle
- P. Batstone
- D. Baty
- Christopher P. Bennett
- Jonathan Berg
- Birgitta Bernhard
- A. P. Bevan
- Edward Blair
- Moira Blyth
- D. Bohanna
- L. Bourdon
- David Bourn
- Angela F. Brady
- Eugene Bragin
- Carole Brewer
- L. Brueton
- K. Brunstrom
- Suzannah J. Bumpstead
- David J. Bunyan
- John Burn
- John Burton
- N Canham
- Bruce Castle
- Kate Chandler
- S Clasper
- Jill Clayton-Smith
- Trevor Cole
- A. Collins
- Morag N. Collinson
- Fiona Connell
- Nicholas J. Cooper
- Helen Cox
- L. Cresswell
- G. Cross
- Yanick J. Crow
- P.M. D’Alessandro
- Tabib Dabir
- Rosemarie Davidson
- Stuart J. Davies
- John Dean
- C. Deshpande
- G. Devlin
- Abhijit Dixit
- Anna F. Dominiczak
- C. Donnelly
- Deirdre E. Donnelly
- Angela E. Douglas
- A. C. Duncan
- Jacqueline Eason
- Sarah Edkins
- Sian Ellard
- Peter R. Ellis
- Frances Elmslie
- Kathryn L. Evans
- S. Everest
- T. Fendick
- Richard Fisher
- Frances Flinter
- Nicola Foulds
- Alan Fryer
- B. Fu
- Carol Gardiner
- Lorraine Gaunt
- Neeti Ghali
- Richard Gibbons
- S. L. Gomes Pereira
- Judith A. Goodship
- David Goudie
- Emma Gray
- P Greene
- Lynn Greenhalgh
- L. Harrison
- R. Hawkins
- Stephen W. Hellens
- Alistair P. Henderson
- Emma Hobson
- Simon Holden
- Susan E. Holder
- G. Hollingsworth
- Tessa Homfray
- Mervyn Humphreys
- Jane A. Hurst
- S Ingram
- Melita Irving
- J Jarvis
- Lucy Jenkins
- Diana Johnson
- David Jones
- E.Y. Jones
- Dragana Josifova
- S. Joss
- B. Kaemba
- S. Kazembe
- B. Kerr
- U. Kini
- Esther Kinning
- Gail Kirby
- C. Kirk
- Emma Kivuva
- Alison Kraus
- Dhavendra Kumar
- K. Lachlan
- Wayne Lam
- Anne K. Lampe
- Caroline Langman
- M Lees
- D. Lím
- G. Lowther
- Sally Ann Lynch
- Alex Magee
- Er Maher
- Sahar Mansour
- K. Marks
- Katherine Martin
- U. Maye
- Emma McCann
- Vivienne McConnell
- Meriel McEntagart
- R McGowan
- K. McKay
- S. McKee
- Dominic J. McMullan
- Susan E. McNerlan
- Sarju G. Mehta
- Kay Metcalfe
- E. Miles
- Shehla Mohammed
- Tara Montgomery
- David Moore
- Sian M. Morgan
- Andrew D. Morris
- Jenny Morton
- Hood Mugalaasi
- V. Murday
- L. Nevitt
- Ruth Newbury-Ecob
- A.R. Norman
- Rosie O’Shea
- Caroline Mackie Ogilvie
- Soo-Mi Park
- M.J. Parker
- Chirag J. Patel
- Joan Paterson
- S Payne
- Julie M Phipps
- Daniela T. Pilz
- David J. Porteous
- N. Pratt
- Katrina Prescott
- Susan Price
- A. Pridham
- A. Proctor
- H. Purnell
- Nicola K. Ragge
- Julia Rankin
- Lucy Raymond
- Daniel L Rice
- Leema Robert
- E. Roberts
- Gillian Roberts
- Jonathan Roberts
- P. Roberts
- Allyson Ross
- Elizabeth C. Rosser
- Anand Saggar
- S Samant
- Richard N. Sandford
- A. Sarkar
- Susann Schweiger
- Carol Scott
- R. Scott
- A. Selby
- A Seller
- C. Sequeira
- Nora Shannon
- S. Sharif
- Charles Shaw-Smith
- Emma Shearing
- Deborah J. Shears
- Ingrid Simonic
- D. Simpkin
- R. Singzon
- Zara Skitt
- Andrew Smith
- Blair H. Smith
- Kath Smith
- Sarah F. Smithson
- Linda Sneddon
- M. Splitt
- M. Squires
- Fiona Stewart
- Helen Stewart
- Mohnish Suri
- Vernon R. Sutton
- Ganesh J. Swaminathan
- Elizabeth Sweeney
- Katrina Tatton-Brown
- Catherine Taylor
- Robert W. Taylor
- M Tein
- I. K. Temple
- J. Thomson
- John Tolmie
- A. Torokwa
- Becky Treacy
- Claire E. Turner
- Peter D. Turnpenny
- Carolyn Tysoe
- Anthony Vandersteen
- Pradeep C. Vasudevan
- Julie Vogt
- Emma L. Wakeling
- D. Walker
- J Waters
- A. Weber
- Diana Wellesley
- Margo L. Whiteford
- Sara Widaa
- Stephen A. Wilcox
- Denise Williams
- Nicholas Williams
- Geoff Woods
- Christopher Wragg
- Michael Wright
- Fengtang Yang
- M. Yau
- Nigel P. Carter
- M. Parker
- H.V. Firth
- D.R. FitzPatrick
- C.F. Wright
- Jeffrey C. Barrett
- M.E. Hurles
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Citations (2) - 2019 Clinical Nephrology
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- Rosalind Verheije
- Gabriel S. Kupchik
- Bertrand Isidor
- Hester Y. Kroes
- Sally Ann Lynch
- Lara Hawkes
- Maja Hempel
- Bruce D. Gelb
- Jamal Ghoumid
- Guylaine D’Amours
- Kate Chandler
- Christèle Dubourg
- Sara Loddo
- Zeynep Tümer
- Charles Shaw-Smith
- Mathilde Nizon
- Michael Shevell
- Evelien Van Hoof
- Kwame Anyane-Yeboa
- Gaetana Cerbone
- Jill Clayton-Smith
- Benjamin Cogné
- Pierre Corre
- Anniek Corveleyn
- Marie De Borre
- Tina Duelund Hjortshøj
- Mélanie Fradin
- Marc Gewillig
- Elizabeth Goldmuntz
- Greet Hens
- Emmanuelle Lemyre
- Hubert Journel
- Usha Kini
- Fanny Kortüm
- Cédric Le Caignec
- Antonio Novelli
- Sylvie Odent
- Florence Petit
- Anya Revah-Politi
- Nicholas Stong
- Tim M. Strom
- Ellen van Binsbergen
- Koenraad Devriendt
- Jeroen Breckpot
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Citations (16) - 2018 Human Mutation
- Manuela Priolo
- Denny Schanze
- Katrin Tatton-Brown
- Paul A. Mulder
- Jair Tenorio
- Kreepa Kooblall
- Inés Hernández Acero
- Fowzan S. Alkuraya
- Pedro Arias
- Laura Bernardini
- Emilia K. Bijlsma
- Trevor Cole
- Christine Coubes
- Irene Dapía
- Sally Davies
- Nataliya Di Donato
- Nursel Elçioğlu
- Jill Ann Fahrner
- Alison Foster
- Noelia García González
- Ilka Huber
- Maria Iascone
- Ann Sophie Kaiser
- Arveen Kamath
- Jan Liebelt
- Sally Ann Lynch
- Saskia M. Maas
- Corrado Mammì
- Inge B. Mathijssen
- Shane McKee
- Leonie A. Menke
- Ghayda M. Mirzaa
- Tara Montgomery
- Dorothée Neubauer
- Thomas E. Neumann
- Letizia Pintomalli
- Maria Antonietta Pisanti
- Astrid S. Plomp
- Sue Price
- Claire G. Salter
- Fernando Santos-Simarro
- Pierre Sarda
- Mabel Segovia
- Charles Shaw-Smith
- Sarah Smithson
- Mohnish Suri
- Rita Maria Valdez
- Arie van Haeringen
- Johanna M. van Hagen
- Marcela Zollino
- Pablo Lapunzina
- Rajesh V. Thakker
- Martin Zenker
- Raoul C. M. Hennekam
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