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Research |
Evidence for 28 genetic disorders discovered by combining healthcare and research data
- Joanna Kaplanis
- , Kaitlin E. Samocha
- , Laurens Wiel
- , Zhancheng Zhang
- , Kevin J. Arvai
- , Ruth Y. Eberhardt
- , Giuseppe Gallone
- , Stefan H. Lelieveld
- , Hilary C. Martin
- , Jeremy F. McRae
- , Patrick J. Short
- , Rebecca I. Torene
- , Elke de Boer
- , Petr Danecek
- , Eugene J. Gardner
- , Ni Huang
- , Jenny Lord
- , Iñigo Martincorena
- , Rolph Pfundt
- , Margot R. F. Reijnders
- , Alison Yeung
- , Helger G. Yntema
- , Silvia Borras
- , Caroline Clark
- , John Dean
- , Zosia Miedzybrodzka
- , Alison Ross
- , Stephen Tennant
- , Tabib Dabir
- , Deirdre Donnelly
- , Mervyn Humphreys
- , Alex Magee
- , Vivienne McConnell
- , Shane McKee
- , Susan McNerlan
- , Patrick J. Morrison
- , Gillian Rea
- , Fiona Stewart
- , Trevor Cole
- , Nicola Cooper
- , Lisa Cooper-Charles
- , Helen Cox
- , Lily Islam
- , Joanna Jarvis
- , Rebecca Keelagher
- , Derek Lim
- , Dominic McMullan
- , Jenny Morton
- , Swati Naik
- , Mary O’Driscoll
- , Kai-Ren Ong
- , Deborah Osio
- , Nicola Ragge
- , Sarah Turton
- , Julie Vogt
- , Denise Williams
- , Simon Bodek
- , Alan Donaldson
- , Alison Hills
- , Karen Low
- , Ruth Newbury-Ecob
- , Andrew M. Norman
- , Eileen Roberts
- , Ingrid Scurr
- , Sarah Smithson
- , Madeleine Tooley
- , Steve Abbs
- , Ruth Armstrong
- , Carolyn Dunn
- , Simon Holden
- , Soo-Mi Park
- , Joan Paterson
- , Lucy Raymond
- , Evan Reid
- , Richard Sandford
- , Ingrid Simonic
- , Marc Tischkowitz
- , Geoff Woods
- , Lisa Bradley
- , Joanne Comerford
- , Andrew Green
- , Sally Lynch
- , Shirley McQuaid
- , Brendan Mullaney
- , Jonathan Berg
- , David Goudie
- , Eleni Mavrak
- , Joanne McLean
- , Catherine McWilliam
- , Eleanor Reavey
- , Tara Azam
- , Elaine Cleary
- , Andrew Jackson
- , Wayne Lam
- , Anne Lampe
- , David Moore
- , Mary Porteous
- , Emma Baple
- , Júlia Baptista
- , Carole Brewer
- , Bruce Castle
- , Emma Kivuva
- , Martina Owens
- , Julia Rankin
- , Charles Shaw-Smith
- , Claire Turner
- , Peter Turnpenny
- , Carolyn Tysoe
- , Therese Bradley
- , Rosemarie Davidson
- , Carol Gardiner
- , Shelagh Joss
- , Esther Kinning
- , Cheryl Longman
- , Ruth McGowan
- , Victoria Murday
- , Daniela Pilz
- , Edward Tobias
- , Margo Whiteford
- , Nicola Williams
- , Angela Barnicoat
- , Emma Clement
- , Francesca Faravelli
- , Jane Hurst
- , Lucy Jenkins
- , Wendy Jones
- , V. K. Ajith Kumar
- , Melissa Lees
- , Sam Loughlin
- , Alison Male
- , Deborah Morrogh
- , Elisabeth Rosser
- , Richard Scott
- , Louise Wilson
- , Ana Beleza
- , Charu Deshpande
- , Frances Flinter
- , Muriel Holder
- , Melita Irving
- , Louise Izatt
- , Dragana Josifova
- , Shehla Mohammed
- , Aneta Molenda
- , Leema Robert
- , Wendy Roworth
- , Deborah Ruddy
- , Mina Ryten
- , Shu Yau
- , Christopher Bennett
- , Moira Blyth
- , Jennifer Campbell
- , Andrea Coates
- , Angus Dobbie
- , Sarah Hewitt
- , Emma Hobson
- , Eilidh Jackson
- , Rosalyn Jewell
- , Alison Kraus
- , Katrina Prescott
- , Eamonn Sheridan
- , Jenny Thomson
- , Kirsty Bradshaw
- , Abhijit Dixit
- , Jacqueline Eason
- , Rebecca Haines
- , Rachel Harrison
- , Stacey Mutch
- , Ajoy Sarkar
- , Claire Searle
- , Nora Shannon
- , Abid Sharif
- , Mohnish Suri
- , Pradeep Vasudevan
- , Natalie Canham
- , Ian Ellis
- , Lynn Greenhalgh
- , Emma Howard
- , Victoria Stinton
- , Andrew Swale
- , Astrid Weber
- , Siddharth Banka
- , Catherine Breen
- , Tracy Briggs
- , Emma Burkitt-Wright
- , Kate Chandler
- , Jill Clayton-Smith
- , Dian Donnai
- , Sofia Douzgou
- , Lorraine Gaunt
- , Elizabeth Jones
- , Bronwyn Kerr
- , Claire Langley
- , Kay Metcalfe
- , Audrey Smith
- , Ronnie Wright
- , David Bourn
- , John Burn
- , Richard Fisher
- , Steve Hellens
- , Alex Henderson
- , Tara Montgomery
- , Miranda Splitt
- , Volker Straub
- , Michael Wright
- , Simon Zwolinski
- , Zoe Allen
- , Birgitta Bernhard
- , Angela Brady
- , Claire Brooks
- , Louise Busby
- , Virginia Clowes
- , Neeti Ghali
- , Susan Holder
- , Rita Ibitoye
- , Emma Wakeling
- , Edward Blair
- , Jenny Carmichael
- , Deirdre Cilliers
- , Susan Clasper
- , Richard Gibbons
- , Usha Kini
- , Tracy Lester
- , Andrea Nemeth
- , Joanna Poulton
- , Sue Price
- , Debbie Shears
- , Helen Stewart
- , Andrew Wilkie
- , Shadi Albaba
- , Duncan Baker
- , Meena Balasubramanian
- , Diana Johnson
- , Michael Parker
- , Oliver Quarrell
- , Alison Stewart
- , Josh Willoughby
- , Charlene Crosby
- , Frances Elmslie
- , Tessa Homfray
- , Huilin Jin
- , Nayana Lahiri
- , Sahar Mansour
- , Karen Marks
- , Meriel McEntagart
- , Anand Saggar
- , Kate Tatton-Brown
- , Rachel Butler
- , Angus Clarke
- , Sian Corrin
- , Andrew Fry
- , Arveen Kamath
- , Emma McCann
- , Hood Mugalaasi
- , Caroline Pottinger
- , Annie Procter
- , Julian Sampson
- , Francis Sansbury
- , Vinod Varghese
- , Diana Baralle
- , Alison Callaway
- , Emma J. Cassidy
- , Stacey Daniels
- , Andrew Douglas
- , Nicola Foulds
- , David Hunt
- , Mira Kharbanda
- , Katherine Lachlan
- , Catherine Mercer
- , Lucy Side
- , I. Karen Temple
- , Diana Wellesley
- , Lisenka E. L. M. Vissers
- , Jane Juusola
- , Caroline F. Wright
- , Han G. Brunner
- , Helen V. Firth
- , David R. FitzPatrick
- , Jeffrey C. Barrett
- , Matthew E. Hurles
- , Christian Gilissen
- & Kyle Retterer
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Research |
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum
- Siddharth Banka
- , Ratna Veeramachaneni
- , William Reardon
- , Emma Howard
- , Sancha Bunstone
- , Nicola Ragge
- , Michael J Parker
- , Yanick J Crow
- , Bronwyn Kerr
- , Helen Kingston
- , Kay Metcalfe
- , Kate Chandler
- , Alex Magee
- , Fiona Stewart
- , Vivienne P M McConnell
- , Deirdre E Donnelly
- , Siren Berland
- , Gunnar Houge
- , Jenny E Morton
- , Christine Oley
- , Nicole Revencu
- , Soo-Mi Park
- , Sally J Davies
- , Andrew E Fry
- , Sally Ann Lynch
- , Harinder Gill
- , Susann Schweiger
- , Wayne W K Lam
- , John Tolmie
- , Shehla N Mohammed
- , Emma Hobson
- , Audrey Smith
- , Moira Blyth
- , Christopher Bennett
- , Pradeep C Vasudevan
- , Sixto García-Miñaúr
- , Alex Henderson
- , Judith Goodship
- , Michael J Wright
- , Richard Fisher
- , Richard Gibbons
- , Susan M Price
- , Deepthi C de Silva
- , I Karen Temple
- , Amanda L Collins
- , Katherine Lachlan
- , Frances Elmslie
- , Meriel McEntagart
- , Bruce Castle
- , Jill Clayton-Smith
- , Graeme C Black
- & Dian Donnai
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Research |
A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size
- Jacquelyn Bond
- , Emma Roberts
- , Kelly Springell
- , Sophia Lizarraga
- , Sheila Scott
- , Julie Higgins
- , Daniel J Hampshire
- , Ewan E Morrison
- , Gabriella F Leal
- , Elias O Silva
- , Suzana M R Costa
- , Diana Baralle
- , Michela Raponi
- , Gulshan Karbani
- , Yasmin Rashid
- , Hussain Jafri
- , Christopher Bennett
- , Peter Corry
- , Christopher A Walsh
- & C Geoffrey Woods
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Research |
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan
- Tony Roscioli
- , Erik-Jan Kamsteeg
- , Karen Buysse
- , Isabelle Maystadt
- , Jeroen van Reeuwijk
- , Christa van den Elzen
- , Ellen van Beusekom
- , Moniek Riemersma
- , Rolph Pfundt
- , Lisenka E L M Vissers
- , Margit Schraders
- , Umut Altunoglu
- , Michael F Buckley
- , Han G Brunner
- , Bernard Grisart
- , Huiqing Zhou
- , Joris A Veltman
- , Christian Gilissen
- , Grazia M S Mancini
- , Paul Delrée
- , Michèl A Willemsen
- , Danijela Petković Ramadža
- , David Chitayat
- , Christopher Bennett
- , Eamonn Sheridan
- , Els A J Peeters
- , Gita M B Tan-Sindhunata
- , Christine E de Die-Smulders
- , Koenraad Devriendt
- , Hülya Kayserili
- , Osama Abd El-Fattah El-Hashash
- , Derek L Stemple
- , Dirk J Lefeber
- , Yung-Yao Lin
- & Hans van Bokhoven
