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- Schaida Schirwani
- Shadi Albaba
- Deanna Alexis Carere
- Maria J. Guillen Sacoto
- Francisca Milan Zamora
- Yue Si
- Rachel Rabin
- John Pappas
- Deborah L. Renaud
- Natalie Hauser
- Evan Reid
- Patricia Blanchet
- Nichola Foulds
- Abhijit Dixit
- Richard Fisher
- Ruth Armstrong
- Bertrand Isidor
- Benjamin Cogné
- Samantha A. Schrier Vergano
- Serwet Demirdas
- Natalie Dykzeul
- Julie S. Cohen
- Katheryn Grand
- Dayna Morel
- Anne Slavotinek
- Hessa F Albassam
- Swati Naik
- John Dean
- Nicola Ragge
- Costa Cinzia
- Maria Giovanna Tedesco
- Rachel Harrison
- Arjan Bouman
- Emily Palen
- Thomas D. Challman
- Marjolein H. Willemsen
- Julie Vogt
- Christopher Cunniff
- Katherine Bergstrom
- Jagdeep S. Walia
- Ange-Line Bruel
- Usha Kini
- Fowzan S. Alkuraya
- Valerie Slegesky
- Naomi Meeks
- Paula Girotto
- Diana Johnson
- Ddd Study
- Ruth Newbury-Ecob
- Charlotte W. Ockeloen
- Paolo Prontera
- Sally Ann Lynch
- Dong Li
- John M. Graham
- Meena Balasubramanian
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Citations (1) - 2019 Genetics in Medicine
- Kathleen A. Williamson
- H. Nikki Hall
- Liusaidh J. Owen
- Benjamin J. Livesey
- Isabel M. Hanson
- Gill Adams
- Simon Bodek
- Patrick Calvas
- Bruce Castle
- Michael P. Clarke
- Alexander T Deng
- Patrick Edery
- Richard Fisher
- Gabriele Gillessen-Kaesbach
- Elise Héon
- Jane A. Hurst
- Dragana Josifova
- Birgit Lorenz
- Shane McKee
- Françoise Meire
- Anthony T. Moore
- Michael Parker
- Charlotte M. Reiff
- Jay E. Self
- Edward S. Tobias
- Joke B. G. M. Verheij
- Marjolaine Willems
- Denise Williams
- Veronica van Heyningen
- Joseph A. Marsh
- David Fitzpatrick
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Citations (22) -
- 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 Nature Genetics
- M. Felicia Basilicata
- Ange-Line Bruel
- Giuseppe Semplicio
- Claudia Isabelle Keller Valsecchi
- Tugce Aktas
- Yannis Duffourd
- Tobias Rumpf
- Jenny Morton
- Iben Bache
- Witold G. Szymanski
- Christian Gilissen
- Olivier Vanakker
- Katrin Õunap
- Gerhard Mittler
- Ineke van der Burgt
- Salima El Chehadeh
- Megan T. Cho
- Rolph Pfundt
- Tiong Yang Tan
- Maria Kirchhoff
- Björn Menten
- Sarah Vergult
- Kristin Lindstrom
- André Reis
- Diana Johnson
- A. J. Fryer
- Victoria McKay
- Richard Fisher
- Christel Thauvin-Robinet
- David F. Francis
- Tony Roscioli
- Sander Pajusalu
- Kelly Radtke
- Jaya Ganesh
- Han G. Brunner
- Meredith Wilson
- Laurence Faivre
- Vera M. Kalscheuer
- Julien Thevenon
- Asifa Akhtar
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Citations (18) - 2016 Human Genetics
- Przemyslaw Szafranski
- Tomasz Gambin
- Avinash V. Dharmadhikari
- Kadir C. Akdemir
- Shalini N. Jhangiani
- Jennifer Schuette
- Nihal Godiwala
- Svetlana A. Yatsenko
- Jessica Sebastian
- Suneeta Madan-Khetarpal
- Urvashi Surti
- Rosanna G. Abellar
- David A. Bateman
- Ashley Wilson
- Melinda Markham
- Jill Slamon
- Fernando Santos-Simarro
- María Palomares
- Julián Nevado
- Pablo Lapunzina
- Brian Hon-Yin Chung
- Wai Lap Wong
- Yoyo W. Y. Chu
- Gary Tsz Kin Mok
- Eitan Kerem
- Joel Reiter
- Namasivayam Ambalavanan
- Scott A. Anderson
- David R. Kelly
- Joseph T.C. Shieh
- Taryn C. Rosenthal
- Kristin Scheible
- Laurie A. Steiner
- M. Anwar Iqbal
- Margaret L. McKinnon
- Sara Jane Hamilton
- Kamilla Schlade-Bartusiak
- Dawn English
- Glenda Hendson
- Elizabeth Roeder
- Thomas S. DeNapoli
- Rebecca O. Littlejohn
- Daynna J. Wolff
- Carol L. Wagner
- Alison Yeung
- David Francis
- Elizabeth K. Fiorino
- Morris Edelman
- Joyce Fox
- Denise A. Hayes
- Sandra Janssens
- Elfride De Baere
- Björn Menten
- Anne Loccufier
- Lieve Vanwalleghem
- Philippe Moerman
- Yves Sznajer
- Amy Shah D Lay
- Jennifer L. Kussmann
- Jasneek Chawla
- Diane J. Payton
- Gael E Phillips
- Erwin Brosens
- Dick Tibboel
- Annelies de Klein
- Isabelle Maystadt
- Richard Fisher
- Nj Sebire
- Alison Male
- Maya Chopra
- Jason Pinner
- Girvan Malcolm
- Gregory Peters
- Susan Arbuckle
- Melissa Lees
- Zoe Mead
- Oliver Quarrell
- Richard Sayers
- Martina Owens
- Charles Shaw-Smith
- Janet Lioy
- Eileen McKay
- Nicole de Leeuw
- Ilse Feenstra
- Liesbeth Spruijt
- Frances Elmslie
- Timothy Thiruchelvam
- Carlos A. Bacino
- Claire Langston
- James R. Lupski
- Partha Sen
- Edwina J. Popek
- Pawel Stankiewicz
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Citations (56) -
- Karen Low
- Tazeen Ashraf
- Natalie Canham
- Jill Clayton-Smith
- Charu Deshpande
- Alan Donaldson
- Richard Fisher
- Frances Flinter
- Nicola Foulds
- Alan Fryer
- Kate Gibson
- Ian Hayes
- Alison Hills
- Susan Holder
- Melita Irving
- Shelagh Joss
- Emma Kivuva
- Kathryn Lachlan
- Alex Magee
- Vivienne McConnell
- Meriel McEntagart
- Kay Metcalfe
- Tara Montgomery
- Ruth Newbury-Ecob
- Fiona Stewart
- Peter D. Turnpenny
- Julie Vogt
- David Fitzpatrick
- Maggie Williams
- Sarah Smithson
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Citations (43) - 2015 Human GeneticsShow All
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Citations (34) - 2015 Human Mutation
- María Concepción Gil-Rodríguez
- Matthew A. Deardorff
- Morad Ansari
- Christopher A. Tan
- Ilaria Parenti
- Carolina Baquero-Montoya
- Lilian Bomme Ousager
- Beatriz Puisac
- María Hernández-Marcos
- María Esperanza Teresa-Rodrigo
- Íñigo Marcos-Alcalde
- Jan Jaap Wesselink
- Silvia Lusa-Bernal
- Emilia K. Bijlsma
- Diana Braunholz
- Inés Bueno-Martínez
- Dinah Clark
- Nicola S. Cooper
- Cynthia J. Curry
- Richard Fisher
- Alan Fryer
- Jaya Ganesh
- Cristina Gervasini
- Gabriele Gillessen-Kaesbach
- Yiran Guo
- Hakon Hakonarson
- Robert J. Hopkin
- Maninder Kaur
- Brendan J. Keating
- Maria Kibaek
- Esther Kinning
- Tjitske Kleefstra
- Antonie Debra Kline
- Ekaterina Kuchinskaya
- Lidia Larizza
- Yun R. Li
- Xuanzhu Liu
- Milena Mariani
- Jonathan Picker
- Ángeles Pié
- Jelena Pozojevic
- Ethel Queralt
- Julie Richer
- Elizabeth Roeder
- Anubha Sinha
- Richard H. Scott
- Joyce So
- Katherine Wusik
- Louise C. Wilson
- Jianguo Zhang
- Paulino Gómez-Puertas
- Cesar H. Casale
- Lena Ström
- Angelo Selicorni
- Feliciano J. Ramos
- Laird G. Jackson
- Ian D. Krantz
- Soma Das
- Raoul C. M. Hennekam
- Frank J. Kaiser
- David Fitzpatrick
- Juan Pié
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Citations (48) - 2015 Nature
- Tomas Fitzgerald
- Sebastian S. Gerety
- Wendy D Jones
- M. van Kogelenberg
- Daniel A. King
- Jeremy F. McRae
- Katherine I. Morley
- Vijaya Parthiban
- Saeed Al-Turki
- Kirsty Ambridge
- Daniel M Barrett
- Tanya Bayzetinova
- Stephen Clayton
- Eve L. Coomber
- Susan M. Gribble
- Philip Jones
- Netravathi Krishnappa
- Laura E Mason
- Anna Middleton
- Raymond D. Miller
- Elena Prigmore
- Diana Rajan
- Alejandro Sifrim
- Adrian Tivey
- Munaza Ahmed
- Nadia Akawi
- Robert Andrews
- U. Anjum
- Hayley Archer
- Ruth Armstrong
- Meena Balasubramanian
- Ruby Banerjee
- Diana Baralle
- P. Batstone
- D. Baty
- Christopher Bennett
- Jonathan S. Berg
- Birgitta Bernhard
- A. P. Bevan
- Edward Blair
- Moira Blyth
- D. Bohanna
- L. Bourdon
- David Bourn
- Angie Brady
- Eugene Bragin
- Carole Brewer
- L. Brueton
- K. Brunstrom
- Suzannah Bumpstead
- David J. Bunyan
- John Burn
- John Burton
- Natalie Canham
- Bruce Castle
- Kate Chandler
- S Clasper
- Jill Clayton-Smith
- Trevor Cole
- Amanda L. Collins
- Morag N. Collinson
- Fiona Connell
- Nichola Cooper
- Helen Cox
- Lara Cresswell
- G. Cross
- Yanick J. Crow
- M. DAlessandro
- Tabib Dabir
- Rosemarie Davidson
- Sophie Davies
- John Dean
- Charulata Deshpande
- G. Devlin
- Abhijit Dixit
- Anna F. Dominiczak
- C. Donnelly
- Deirdre E. Donnelly
- Angela E. Douglas
- Ac Duncan
- Jacqueline Eason
- Sarah Edkins
- Sian Ellard
- Peter 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 J. Gibbons
- S. L. Gomes Pereira
- Judith A. Goodship
- David Goudie
- Elizabeth E. Gray
- P Greene
- Lynn Greenhalgh
- L. Harrison
- R. Hawkins
- Stephen Hellens
- Alistair P. Henderson
- Emma Hobson
- Simon Holden
- Susan Holder
- Georgina Hollingsworth
- Tessa Homfray
- Mervyn Humphreys
- Jane Hurst
- Stuart Ingram
- Melita Irving
- J Jarvis
- Lucy Jenkins
- Diana Johnson
- Danielle Jones
- E. Jones
- Dragana Josifova
- Shelagh Joss
- B. Kaemba
- S. Kazembe
- Bronwyn Kerr
- Usha Kini
- Esther Kinning
- Gail Kirby
- C. Kirk
- Emma Kivuva
- Alison Kraus
- Dhavendra Kumar
- Katherine Lachlan
- Wayne Lam
- Anne K. Lampe
- Caroline Langman
- M Lees
- Derek Lim
- G. Lowther
- Sally Ann Lynch
- Alex Magee
- Eddy Maher
- Sahar Mansour
- Karen Marks
- Kate Martin
- Una Maye
- Emma McCann
- Vivienne McConnell
- Meriel McEntagart
- Ruth McGowan
- K. McKay
- Shane McKee
- Dominic McMullan
- Susan E. McNerlan
- Sarju G. Mehta
- Kay Metcalfe
- E. Miles
- Shehla Mohammed
- Tara Montgomery
- David Moore
- Sian Morgan
- Andrew D. Morris
- Jenny Morton
- Hood Mugalaasi
- Victoria Murday
- L. Nevitt
- Ruth Newbury-Ecob
- A. Norman
- Rosie O’Shea
- Caroline Mackie Ogilvie
- Soo-Mi Park
- Mj Parker
- Chirag J. Patel
- Joan Paterson
- Stewart J. Payne
- Julie Phipps
- Daniela T. Pilz
- David J. Porteous
- N. Pratt
- Katrina Prescott
- Susan Price
- A. Pridham
- A Procter
- H. Purnell
- N K Ragge
- Julia Rankin
- Lucy Raymond
- Daniel L. Rice
- Leema Robert
- Emma Roberts
- G. Roberts
- Jonathan Roberts
- P. Roberts
- Allyson Ross
- Elizabeth C. Rosser
- Anand Saggar
- S. Samant
- Richard Sandford
- Ajoy Sarkar
- Susann Schweiger
- Christiaan Scott
- Robert A. 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 P. Smith
- Blair H. Smith
- Kath Smith
- Sarah Smithson
- Linda Sneddon
- M Splitt
- M. Squires
- Fiona Stewart
- Helen Stewart
- Mohnish Suri
- V. Sutton
- G. J. Swaminathan
- Elizabeth Sweeney
- Katrina Tatton-Brown
- C. Taylor
- Rohan Taylor
- Mark S.C. Tein
- I. K. Temple
- J. Thomson
- John Tolmie
- A. Torokwa
- Becky Treacy
- Claire Turner
- Peter D Turnpenny
- Carolyn Tysoe
- Anthony M. Vandersteen
- Pradeep Vasudevan
- Julie Vogt
- Emma Wakeling
- D. Walker
- J Waters
- Astrid Weber
- D. Wellesley
- Margo Whiteford
- Sara Widaa
- Stephen A. Wilcox
- Denise Williams
- Nicholas Williams
- Geoff Woods
- Christopher Wragg
- Michael J. Wright
- Fengtang Yang
- M. Yau
- Nigel P. Carter
- Michael D. Parker
- Helen V. Firth
- David Fitzpatrick
- Caroline F. Wright
- Jeffrey C. Barrett
- Matthew E. Hurles
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Citations (742) -
- María Concepción Gil-Rodríguez
- Matthew A. Deardorff
- Morad Ansari
- Ilaria Parenti
- Carolina Baquero-Montoya
- Lilian Bomme Ousager
- Beatriz Puisac
- María Hernández-Marcos
- María Esperanza Teresa-Rodrigo
- Íñigo Marcos-Alcalde
- Emilia K. Bijlsma
- Inés Bueno
- Dinah Clark
- Nicola S. Cooper
- Cynthia J. Curry
- Richard Fisher
- Jaya Ganesh
- Cristina Gervasini
- Gabriele Gillessen-Kaesbach
- Yiran Guo
- Hakon Hakonarson
- Robert J. Hopkin
- Maninder Kaur
- Brendan J. Keating
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