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Papers (51)
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- Xénia Latypova
- Marie Vincent
- Alice Mollé
- Oluwadamilare A. Adebambo
- Cynthia Fourgeux
- Tahir N. Khan
- Alfonso Caro
- Mónica Roselló
- Carmen Orellana
- Dmitriy Niyazov
- Damien Lederer
- Marie Deprez
- Yline Capri
- Peter Kannu
- Anne-Claude Tabet
- Jonathan C. Levy
- Emmelien Aten
- Nicolette S. den Hollander
- Miranda Splitt
- Jagdeep S. Walia
- LaDonna Immken
- Pawel Stankiewicz
- Kirsty McWalter
- Sharon F. Suchy
- Raymond J. Louie
- Shannon Bell
- Roger E. Stevenson
- Justine Rousseau
- Catherine Willem
- Christelle Retière
- Xiang-Jiao Yang
- Philippe M. Campeau
- Francisco Martínez
- Jill A. Rosenfeld
- Cédric Le Caignec
- Sébastien Küry
- Sandra Mercier
- Kamran Moradkhani
- Solène Conrad
- Thomas Besnard
- Benjamin Cogné
- Nicholas Katsanis
- Stéphane Bézieau
- Jeremie Poschmann
- Erica E. Davis
- Bertrand Isidor
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Citations (0) -
- Víctor Faundes
- Martin D. Jennings
- Siobhan Crilly
- Sarah Legraie
- Sarah E. Withers
- Sara Cuvertino
- Sally Davies
- Andrew G.L. Douglas
- Andrew E. Fry
- Victoria Harrison
- Jeanne Amiel
- Daphné Lehalle
- William G. Newman
- Patricia Newkirk
- Judith D. Ranells
- Miranda Splitt
- Laura A. Cross
- Carol J. Saunders
- Bonnie R. Sullivan
- Jorge L. Granadillo
- Christopher T. Gordon
- Paul R. Kasher
- Graham D. Pavitt
- Siddharth Banka
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Citations (9) -
- Indraneel Banerjee
- Senthil Senniappan
- Thomas W. Laver
- Richard Caswell
- Martin Zenker
- Klaus Mohnike
- Tim Cheetham
- Matthew N. Wakeling
- Dunia Ismail
- Belinda Lennerz
- Miranda Splitt
- Merih Berberoğlu
- Susann Empting
- Martin Wabitsch
- Simone Pötzsch
- Pratik Shah
- Zeynep Şıklar
- Charles F. Verge
- Michael N. Weedon
- Sian Ellard
- Khalid Hussain
- Sarah E. Flanagan
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Citations (0) -
- Sanaa Choufani
- William T. Gibson
- Andrei L. Turinsky
- Brian H.Y. Chung
- Tianren Wang
- Kopal Garg
- Alessandro Vitriolo
- Ana S. A. Cohen
- Sharri Cyrus
- Sarah J. Goodman
- Eric Chater-Diehl
- Jack Brzezinski
- Michael Brudno
- Luk Ho-ming
- Susan M. White
- Sally Ann Lynch
- Carol L. Clericuzio
- I. Karen Temple
- Frances Flinter
- Vivienne McConnell
- Tom Cushing
- Lynne M. Bird
- Miranda Splitt
- Bronwyn Kerr
- Stephen W. Scherer
- Jerry Machado
- Eri Imagawa
- Nobuhiko Okamoto
- Naomichi Matsumoto
- Guiseppe Testa
- Maria Iascone
- Romano Tenconi
- Oana Caluseriu
- Roberto Mendoza-Londono
- David Chitayat
- Cheryl Cytrynbaum
- K Tatton-Brown
- Rosanna Weksberg
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Citations (26) - 2020 Genetics in Medicine
- Christine Shieh
- Natasha Jones
- Brigitte Vanle
- Margaret Au
- Alden Y. Huang
- Ana P. G. Silva
- Hane Lee
- Emilie D. Douine
- Maria G. Otero
- Andrew Choi
- Katheryn Grand
- Ingrid P. Taff
- Mauricio R. Delgado
- M. J. Hajianpour
- Andrea H. Seeley
- Luis Rohena
- Hilary J. Vernon
- Karen W. Gripp
- Samantha A. Vergano
- Sonal Mahida
- Sakkubai Naidu
- Ana Berta Sousa
- Karen E. Wain
- Thomas D. Challman
- Geoffrey Beek
- Donald Basel
- Judith D. Ranells
- Rosemarie Smith
- Roman Yusupov
- Mary-Louise Freckmann
- Lisa Ohden
- Laura Davis-Keppen
- David Chitayat
- James J. Dowling
- Richard S. Finkel
- Andrew Dauber
- Rebecca C. Spillmann
- Loren Peña
- Kay Metcalfe
- Miranda Splitt
- Katherine Lachlan
- Shane McKee
- Jane A. Hurst
- David Fitzpatrick
- Jenny Morton
- Helen Cox
- Sunita Venkateswaran
- Juan I. Young
- Eric D. Marsh
- Stanley F. Nelson
- Julian A. Martinez
- John M. Graham
- Usha Kini
- Joel P. Mackay
- Tyler Mark Pierson
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Citations (12) -
- 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) -
- Indraneel Banerjee
- Senthil Senniappan
- Thomas W. Laver
- Richard Caswell
- Martin Zenker
- Klaus Mohnike
- Tim Cheetham
- Matthew Wakeling
- Dunia Ismail
- Belinda Lennerz
- Miranda Splitt
- Merih Berberoğlu
- Susann Empting
- Martin Wabitsch
- Simone Pötzsch
- Pratik Shah
- Zeynep Şıklar
- Charles F. Verge
- Michael N. Weedon
- Sian Ellard
- Khalid Hussain
- Sarah E. Flanagan
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Citations (0) - 2019 Genetics in Medicine
- Maria J. Nabais Sá
- Philip J. Jensik
- Stacey McGee
- Michael J. Parker
- Nayana Lahiri
- Evan P. McNeil
- Hester Y. Kroes
- Randi J. Hagerman
- Rachel Harrison
- Tara Montgomery
- Miranda Splitt
- Elizabeth E. Palmer
- Rani Sachdev
- Heather C. Mefford
- Abbey A. Scott
- Julian A. Martinez-Agosto
- Rüdiger Lorenz
- Naama Orenstein
- Jonathan N. Berg
- Jeanne Amiel
- Delphine Héron
- Boris Keren
- Jan-Maarten Cobben
- Leonie A. Menke
- Elysa J. Marco
- John M. Graham
- Tyler Mark Pierson
- Ehsan Ghayoor Karimiani
- Reza Maroofian
- M. Chiara Manzini
- Edmund Cauley
- Roberto Colombo
- Sylvie Odent
- Christèle Dubourg
- Chanika Phornphutkul
- Arjan P.M. de Brouwer
- Bert B.A. de Vries
- Anneke T. Vulto-vanSilfhout
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Citations (11) - 2019 Genetics in Medicine
- Pleuntje J. van der Sluijs
- Sandra Jansen
- Samantha A. Vergano
- Miho Adachi-Fukuda
- Yasemin Alanay
- Adila Al-Kindy
- Anwar Baban
- Allan Bayat
- Stefanie Beck-Wödl
- Katherine Berry
- Emilia K. Bijlsma
- Levinus A. Bok
- Alwin F.J. Brouwer
- Ineke van der Burgt
- Philippe M. Campeau
- Natalie Canham
- Krystyna H. Chrzanowska
- Yoyo W. Y. Chu
- Brain H. Y. Chung
- Karin Dahan
- Marjan De Rademaeker
- Anne Destrée
- Tracy Dudding-Byth
- Rachel Earl
- Nursel Elçioğlu
- Ellen Roy Elias
- Christina Fagerberg
- Alice Gardham
- Blanca Gener
- Erica H. Gerkes
- Ute Grasshoff
- Arie van Haeringen
- Karin R. Heitink
- Johanna C. Herkert
- Nicolette S. den Hollander
- Denise Horn
- David Hunt
- Sarina G. Kant
- Mitsuhiro Kato
- H. lya Kayserili
- Rogier Kersseboom
- Esra Kiliç
- Małgorzata Krajewska-Walasek
- Kylin Lammers
- Lone W Laulund
- Damien Lederer
- Melissa Lees
- Vanesa López-González
- Saskia M. Maas
- Grazia M.S. Mancini
- Carlo Marcelis
- Francisco Venegas-Martínez
- Isabelle Maystadt
- Marianne McGuire
- Shane McKee
- Sarju G. Mehta
- Kay Metcalfe
- Jeff M. Milunsky
- Seiji Mizuno
- John B. Moeschler
- Christian Netzer
- Charlotte W. Ockeloen
- Barbara Oehl-Jaschkowitz
- Nobuhiko Okamoto
- Sharon N. M. Olminkhof
- Carmen Orellana
- Laurent Pasquier
- Caroline Pottinger
- Vera Riehmer
- Stephen P. Robertson
- Maian Roifman
- Caroline Rooryck
- Fabienne G Ropers
- Mónica Roselló
- Claudia A. L. Ruivenkamp
- Mahmut Samil Sagiroglu
- Suzanne C.E.H. Sallevelt
- Amparo Sanchis Calvo
- Pelin Ozlem Simsek-Kiper
- Gabriela Soares
- Lucia Solaeche
- Fatma Mujgan Sonmez
- Miranda Splitt
- Duco Steenbeek
- Alexander P. A. Stegmann
- Constance T. R. M. Stumpel
- Saori Tanabe
- Eyyup Uctepe
- G. Eda Utine
- Hermine E. Veenstra-Knol
- Sunita Venkateswaran
- Catheline Vilain
- Catherine Vincent-Delorme
- Anneke T. Vulto-van Silfhout
- Patricia G. Wheeler
- Golder N. Wilson
- Louise C. Wilson
- Bernd Wollnik
- Tomoki Kosho
- Dagmar Wieczorek
- Evan E. Eichler
- Rolph Pfundt
- Bert B.A. de Vries
- Jill Clayton-Smith
- Gijs W.E. Santen
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Citations (3) - 2018 Human Mutation
- Josephina Meester
- Maja Sukalo
- Kim C. Schroder
- Denny Schanze
- Gareth Baynam
- Guntram Borck
- Nuria C. Bramswig
- Duygu Duman
- Brigitte Gilbert-Dussardier
- Muriel Holder-Espinasse
- Peter Itin
- Diana Johnson
- Shelagh Joss
- Hannele Koillinen
- Fiona Haslam McKenzie
- Jenny Morton
- Heike Nelle
- Willie Reardon
- Claudia Roll
- Mustafa A. Salih
- Ravi Savarirayan
- Ingrid Scurr
- Miranda Splitt
- Elizabeth Thompson
- Hannah Titheradge
- Colm P. Travers
- Lionel Van Maldergem
- Margo Whiteford
- Dagmar Wieczorek
- Geert Vandeweyer
- Richard C. Trembath
- Lut Van Laer
- Bart Loeys
- Martin Zenker
- Laura Southgate
- Wim Wuyts
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Citations (18)
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