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- 2019 Clinical Genetics
- Alistair T. Pagnamenta
- Pamela J. Kaisaki
- Fenella Bennett
- Emma Burkitt-Wright
- Hilary C. Martin
- Matteo P. Ferla
- John M. Taylor
- Lianne Gompertz
- Nayana Lahiri
- Katrina Tatton-Brown
- Ruth Newbury-Ecob
- Alex Henderson
- Shelagh Joss
- Astrid Weber
- Jenny Carmichael
- Peter D Turnpenny
- Shane McKee
- Francesca Forzano
- Tazeen Ashraf
- Kimberley Bradbury
- Deborah J. Shears
- Usha Kini
- Anna de Burca
- Edward Blair
- Jenny C. Taylor
- Helen Stewart
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Citations (14) - 2016 bioRxiv
- Jeremy F. McRae
- Stephen Clayton
- Tomas Fitzgerald
- Joanna Kaplanis
- Elena Prigmore
- Diana Rajan
- Alejandro Sifrim
- Stuart Aitken
- Nadia Akawi
- Mohsan Alvi
- Kirsty Ambridge
- Daniel M Barrett
- Tanya Bayzetinova
- Philip Jones
- Wendy D Jones
- Daniel A. King
- Netravathi Krishnappa
- Laura E Mason
- Tarjinder Singh
- Adrian Tivey
- Munaza Ahmed
- Uruj Anjum
- Hayley Archer
- Ruth Armstrong
- Jana Awada
- Meena Balasubramanian
- Siddharth Banka
- Diana Baralle
- Angela Barnicoat
- Paul Batstone
- D. Baty
- Christopher Bennett
- Jonathan Berg
- Birgitta Bernhard
- A. Paul Bevan
- Maria Bitner-Glindzicz
- Edward Blair
- Moira Blyth
- David Bohanna
- Louise Bourdon
- David Bourn
- Lisa Bradley
- Angela F. Brady
- Simon Brent
- Carole Brewer
- Kate Brunstrom
- David J Bunyan
- John Burn
- Natalie Canham
- Bruce Castle
- Kate Chandler
- Elena Chatzimichali
- Deirdre Cilliers
- Angus John Clarke
- Susan Clasper
- Jill Clayton-Smith
- Virginia Clowes
- Andrea Coates
- Trevor Cole
- Irina Colgiu
- Amanda L. Collins
- Morag N. Collinson
- Fiona Connell
- Nicola Cooper
- Helen Cox
- Lara Cresswell
- Gareth Cross
- Yanick J. Crow
- Mariella D’Alessandro
- Tabib Dabir
- Rosemarie Davidson
- Sally Davies
- Dylan de Vries
- John Dean
- Charu Deshpande
- Gemma Devlin
- Abhijit Dixit
- Angus Dobbie
- Alan Donaldson
- Dian Donnai
- Deirdre E. Donnelly
- Carina Donnelly
- Angela E. Douglas
- Sofia Douzgou
- Alexis Duncan
- Jacqueline Eason
- Sian Ellard
- Ian Ellis
- Frances Elmslie
- Karenza Evans
- Sarah Everest
- Tina Fendick
- Richard Fisher
- Frances Flinter
- Nicola Foulds
- Andrew E. Fry
- Alan Fryer
- Carol Gardiner
- Lorraine Gaunt
- Neeti Ghali
- Richard J. Gibbons
- Harinder Gill
- Judith A. Goodship
- David Goudie
- Emma Gray
- Andrew Green
- Philip Greene
- Lynn Greenhalgh
- Susan M. Gribble
- Rachel Harrison
- Lucy Harrison
- Victoria Harrison
- Rose Hawkins
- Liu He
- Stephen W. Hellens
- Alex Henderson
- Sarah Hewitt
- Lucy Hildyard
- Emma Hobson
- Simon Holden
- Muriel Holder
- Susan Holder
- Georgina Hollingsworth
- Tessa Homfray
- Mervyn Humphreys
- Jane Hurst
- Ben Hutton
- Stuart Ingram
- Melita Irving
- Lily Islam
- Andrew M. Jackson
- Joanna Jarvis
- Lucy Jenkins
- Diana Johnson
- Elizabeth A. Jones
- Dragana Josifova
- Shelagh Joss
- Beckie Kaemba
- Sandra Kazembe
- Rosemary Kelsell
- Bronwyn Kerr
- Helen Kingston
- Usha Kini
- Esther Kinning
- Gail Kirby
- Claire Kirk
- Emma Kivuva
- Alison Kraus
- Dhavendra Kumar
- V.K Ajith Kumar
- Katherine Lachlan
- Wayne Lam
- Anne Lampe
- Caroline Langman
- Melissa Lees
- Derek Lim
- Cheryl Longman
- Gordon Lowther
- Sally Ann Lynch
- Alex Magee
- Eddy Maher
- Alison Male
- Sahar Mansour
- Karen Marks
- Katherine Martin
- Una Maye
- Emma McCann
- Vivienne McConnell
- Meriel McEntagart
- Ruth McGowan
- Kirsten McKay
- Shane McKee
- Dominic McMullan
- Susan E. McNerlan
- Catherine McWilliam
- Sarju G. Mehta
- Kay Metcalfe
- Anna Middleton
- Zosia Miedzybrodzka
- Emma Miles
- Shehla Mohammed
- Tara Montgomery
- David Moore
- Sian Morgan
- Jenny Morton
- Hood Mugalaasi
- Victoria Murday
- Helen Murphy
- Swati Naik
- Andrea Németh
- Louise Nevitt
- Ruth Newbury-Ecob
- Andrew Norman
- Rosie O'Shea
- Caroline Mackie Ogilvie
- Kai-ren Ong
- Soo-Mi Park
- Michael Parker
- Chirag J. Patel
- Joan Paterson
- Stewart Payne
- Daniel Perrett
- Julie Phipps
- Daniela T Pilz
- Martin Pollard
- Caroline Pottinger
- Joanna Poulton
- Norman Pratt
- Katrina Prescott
- Sue Price
- Abigail Pridham
- Annie Procter
- Hellen Purnell
- Oliver Quarrell
- Nicola Ragge
- Raheleh Rahbari
- Josh Randall
- Julia Rankin
- Lucy Raymond
- Debbie Rice
- Leema Robert
- Eileen Roberts
- Jonathan Roberts
- Paul Roberts
- Gillian Roberts
- Alison Ross
- Elisabeth Rosser
- Anand Saggar
- Shalaka Samant
- Julian Roy Sampson
- Richard Sandford
- Ajoy Sarkar
- Susann Schweiger
- Richard H. Scott
- Ingrid Scurr
- Ann Selby
- Anneke Seller
- Cheryl Sequeira
- Nora Shannon
- Saba Sharif
- Charles Shaw-Smith
- Emma Shearing
- Debbie Shears
- Eamonn Sheridan
- Ingrid Simonic
- Roldan Singzon
- Zara Skitt
- Audrey Smith
- Kath Smith
- Sarah Smithson
- Linda Sneddon
- Miranda Splitt
- Miranda Squires
- Fiona Stewart
- Helen Stewart
- Volker Straub
- Mohnish Suri
- Vivienne Sutton
- G. J. Swaminathan
- Elizabeth Sweeney
- Kate Tatton-Brown
- Cat Taylor
- Rohan Taylor
- Mark Tein
- I. Karen Temple
- Jenny Thomson
- Marc Tischkowitz
- Susan Tomkins
- Audrey Torokwa
- Becky Treacy
- Claire E. Turner
- Peter D. Turnpenny
- Carolyn Tysoe
- Anthony Vandersteen
- Vinod Varghese
- Pradeep Vasudevan
- Parthiban Vijayarangakannan
- Julie Vogt
- Emma Wakeling
- Sarah Wallwark
- Jonathon Waters
- Astrid Weber
- Diana Wellesley
- Margo Whiteford
- Sara Widaa
- Sarah Wilcox
- Emily Wilkinson
- Denise Williams
- Nicola Williams
- Louise C. Wilson
- Geoff Woods
- Christopher Wragg
- Michael J. Wright
- Laura M. Yates
- Michael Yau
- Chris Nellaker
- Helen V. Firth
- Caroline F. Wright
- David Fitzpatrick
- Jeffrey C. Barrett
- Matthew E. Hurles
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Citations (17) -
- Charles R. Abbey
- Bonnie L. Abbey
- Austin Adams
- Christopher L. Adelman
- Kathleen Mylecraine
- Brenda Allen
- James E. Almady
- Venetia Alston
- Carol M. Ambers
- Teresa C. Andreani
- Joan Andrews
- Theresa V. Apanasewicz
- Marie Artino
- Jim Assenmacher
- Julie Assenmacher
- Marilyn August
- Margaret Aumiller
- Andy Bacher
- Robin J. Bachman
- Esther Baiocco
- Philip I. Bak
- Dane Barr
- Diane Barry
- Don Basch
- Denise Basch
- John A. Bastulli
- Lorene Bastulli
- Robert L. Bazzarelli
- William T. Beaufait
- Mary P. Beaufait
- Richard C. Beercheck
- Judith M. Beercheck
- James Behling
- Barbara B. Behling
- Rachelle M. Bekoscke
- Carrie Benedict
- Rodney Berentz
- James A. Beres
- Richard Berggolc
- Kathleen E. Betz
- Marge Bican
- John V. Biernacki
- Janet W. Biernacki
- Eduardo A. Bigornia
- Lina A. Bigornia
- Patricia M. Billick
- Edward Blair
- Jonathan Blakely
- Florence M. Bolan
- Ralph Bonacci
- John Brattoli
- Christopher R. Brewer
- Dorothy M. Brock
- Agnes M. Brodnik
- Robert M. Brogan
- L Eva
- M Joseph
- Conrad N. Hilton
- Christopher G. Thomarios
- Evarts Tremaine
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