Showing 1–18 of 18 results
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Research | | Open
Germline AGO2 mutations impair RNA interference and human neurological development
- Davor Lessel
- , Daniela M. Zeitler
- , Margot R. F. Reijnders
- , Andriy Kazantsev
- , Fatemeh Hassani Nia
- , Alexander Bartholomäus
- , Victoria Martens
- , Astrid Bruckmann
- , Veronika Graus
- , Allyn McConkie-Rosell
- , Marie McDonald
- , Bernarda Lozic
- , Ee-Shien Tan
- , Erica Gerkes
- , Jessika Johannsen
- , Jonas Denecke
- , Aida Telegrafi
- , Evelien Zonneveld-Huijssoon
- , Henny H. Lemmink
- , Breana W. M. Cham
- , Tanja Kovacevic
- , Linda Ramsdell
- , Kimberly Foss
- , Diana Le Duc
- , Diana Mitter
- , Steffen Syrbe
- , Andreas Merkenschlager
- , Margje Sinnema
- , Bianca Panis
- , Joanna Lazier
- , Matthew Osmond
- , Taila Hartley
- , Jeremie Mortreux
- , Tiffany Busa
- , Chantal Missirian
- , Pankaj Prasun
- , Sabine Lüttgen
- , Ilaria Mannucci
- , Ivana Lessel
- , Claudia Schob
- , Stefan Kindler
- , John Pappas
- , Rachel Rabin
- , Marjolein Willemsen
- , Thatjana Gardeitchik
- , Katharina Löhner
- , Patrick Rump
- , Kerith-Rae Dias
- , Carey-Anne Evans
- , Peter Ian Andrews
- , Tony Roscioli
- , Han G. Brunner
- , Chieko Chijiwa
- , M. E. Suzanne Lewis
- , Rami Abou Jamra
- , David A. Dyment
- , Kym M. Boycott
- , Alexander P. A. Stegmann
- , Christian Kubisch
- , Ene-Choo Tan
- , Ghayda M. Mirzaa
- , Kirsty McWalter
- , Tjitske Kleefstra
- , Rolph Pfundt
- , Zoya Ignatova
- , Gunter Meister
- & Hans-Jürgen Kreienkamp
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Research |
Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)
- Edwin P. Kirk
- , Royston Ong
- , Kirsten Boggs
- , Tristan Hardy
- , Sarah Righetti
- , Ben Kamien
- , Tony Roscioli
- , David J. Amor
- , Madhura Bakshi
- , Clara W. T. Chung
- , Alison Colley
- , Robyn V. Jamieson
- , Jan Liebelt
- , Alan Ma
- , Nicholas Pachter
- , Sulekha Rajagopalan
- , Anja Ravine
- , Meredith Wilson
- , Jade Caruana
- , Rachael Casella
- , Mark Davis
- , Samantha Edwards
- , Alison Archibald
- , Julie McGaughran
- , Ainsley J. Newson
- , Nigel G. Laing
- & Martin B. Delatycki
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Amendments and Corrections |
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Correspondence |
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Research |
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Reviews | | Open
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Research |
A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations
- Eric Lee
- , Trang Le
- , Ying Zhu
- , George Elakis
- , Anne Turner
- , William Lo
- , Hanka Venselaar
- , Carol-Ann Verrenkamp
- , Nicole Snow
- , David Mowat
- , Edwin Philip Kirk
- , Rani Sachdev
- , Janine Smith
- , Natasha Jane Brown
- , Mathew Wallis
- , Chris Barnett
- , Fiona McKenzie
- , Mary-Louise Freckmann
- , Felicity Collins
- , Maya Chopra
- , Nerine Gregersen
- , Ian Hayes
- , Sulekha Rajagopalan
- , Tiong Yang Tan
- , Zornitza Stark
- , Ravi Savarirayan
- , Alison Yeung
- , Lesley Adès
- , Michael Gattas
- , Kate Gibson
- , Michael Gabbett
- , David John Amor
- , Wanda Lattanzi
- , Simeon Boyd
- , Eric Haan
- , Mark Gianoutsos
- , Timothy Chilton Cox
- , Michael Francis Buckley
- & Tony Roscioli
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Research |
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome
- Peter M Krawitz
- , Michal R Schweiger
- , Christian Rödelsperger
- , Carlo Marcelis
- , Uwe Kölsch
- , Christian Meisel
- , Friederike Stephani
- , Taroh Kinoshita
- , Yoshiko Murakami
- , Sebastian Bauer
- , Melanie Isau
- , Axel Fischer
- , Andreas Dahl
- , Martin Kerick
- , Jochen Hecht
- , Sebastian Köhler
- , Marten Jäger
- , Johannes Grünhagen
- , Birgit Jonske de Condor
- , Sandra Doelken
- , Han G Brunner
- , Peter Meinecke
- , Eberhard Passarge
- , Miles D Thompson
- , David E Cole
- , Denise Horn
- , Tony Roscioli
- , Stefan Mundlos
- & Peter N Robinson
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Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification
- Frank Rutsch
- , Nico Ruf
- , Sucheta Vaingankar
- , Mohammad R. Toliat
- , Anita Suk
- , Wolfgang Höhne
- , Galen Schauer
- , Mandy Lehmann
- , Tony Roscioli
- , Dirk Schnabel
- , Jörg T. Epplen
- , Alex Knisely
- , Andrea Superti-Furga
- , James McGill
- , Marco Filippone
- , Alan R. Sinaiko
- , Hillary Vallance
- , Bernd Hinrichs
- , Wendy Smith
- , Merry Ferre
- , Robert Terkeltaub
- & Peter Nürnberg
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Research |
De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation
- M. Felicia Basilicata
- , Ange-Line Bruel
- , Giuseppe Semplicio
- , Claudia Isabelle Keller Valsecchi
- , Tuğçe Aktaş
- , 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 S. Johnson
- , Alan Fryer
- , Victoria McKay
- , Richard B. Fisher
- , Christel Thauvin-Robinet
- , David 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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Research |
Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders
- Lisa J Ewans
- , Deborah Schofield
- , Rupendra Shrestha
- , Ying Zhu
- , Velimir Gayevskiy
- , Kevin Ying
- , Corrina Walsh
- , Eric Lee
- , Edwin P Kirk
- , Alison Colley
- , Carolyn Ellaway
- , Anne Turner
- , David Mowat
- , Lisa Worgan
- , Mary-Louise Freckmann
- , Michelle Lipke
- , Rani Sachdev
- , David Miller
- , Michael Field
- , Marcel E Dinger
- , Michael F Buckley
- , Mark J Cowley
- & Tony Roscioli
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Research | | Open
De novo mutations in PLXND1 and REV3L cause Möbius syndrome
- Laura Tomas-Roca
- , Anastasia Tsaalbi-Shtylik
- , Jacob G. Jansen
- , Manvendra K. Singh
- , Jonathan A. Epstein
- , Umut Altunoglu
- , Harriette Verzijl
- , Laura Soria
- , Ellen van Beusekom
- , Tony Roscioli
- , Zafar Iqbal
- , Christian Gilissen
- , Alexander Hoischen
- , Arjan P. M. de Brouwer
- , Corrie Erasmus
- , Dirk Schubert
- , Han Brunner
- , Antonio Pérez Aytés
- , Faustino Marin
- , Pilar Aroca
- , Hülya Kayserili
- , Arturo Carta
- , Niels de Wind
- , George W. Padberg
- & Hans van Bokhoven
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Research |
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome
- Jean-Baptiste Rivière
- , Bregje W M van Bon
- , Alexander Hoischen
- , Stanislav S Kholmanskikh
- , Brian J O'Roak
- , Christian Gilissen
- , Sabine Gijsen
- , Christopher T Sullivan
- , Susan L Christian
- , Omar A Abdul-Rahman
- , Joan F Atkin
- , Nicolas Chassaing
- , Valerie Drouin-Garraud
- , Andrew E Fry
- , Jean-Pierre Fryns
- , Karen W Gripp
- , Marlies Kempers
- , Tjitske Kleefstra
- , Grazia M S Mancini
- , Małgorzata J M Nowaczyk
- , Conny M A van Ravenswaaij-Arts
- , Tony Roscioli
- , Michael Marble
- , Jill A Rosenfeld
- , Victoria M Siu
- , Bert B A de Vries
- , Jay Shendure
- , Alain Verloes
- , Joris A Veltman
- , Han G Brunner
- , M Elizabeth Ross
- , Daniela T Pilz
- & William B Dobyns
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Research |
A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9
- Cristina M Justice
- , Garima Yagnik
- , Yoonhee Kim
- , Inga Peter
- , Ethylin Wang Jabs
- , Monica Erazo
- , Xiaoqian Ye
- , Edmond Ainehsazan
- , Lisong Shi
- , Michael L Cunningham
- , Virginia Kimonis
- , Tony Roscioli
- , Steven A Wall
- , Andrew O M Wilkie
- , Joan Stoler
- , Joan T Richtsmeier
- , Yann Heuzé
- , Pedro A Sanchez-Lara
- , Michael F Buckley
- , Charlotte M Druschel
- , James L Mills
- , Michele Caggana
- , Paul A Romitti
- , Denise M Kay
- , Craig Senders
- , Peter J Taub
- , Ophir D Klein
- , James Boggan
- , Marike Zwienenberg-Lee
- , Cyrill Naydenov
- , Jinoh Kim
- , Alexander F Wilson
- & Simeon A Boyadjiev
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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
