Showing 1–12 of 12 results
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Research |
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy
- Chiara Klöckner
- , Heinrich Sticht
- , Pia Zacher
- , Bernt Popp
- , Holly E. Babcock
- , Dewi P. Bakker
- , Katy Barwick
- , Michaela V. Bonfert
- , Carsten G. Bönnemann
- , Eva H. Brilstra
- , Wendy K. Chung
- , Angus J. Clarke
- , Patrick Devine
- , Sandra Donkervoort
- , Jamie L. Fraser
- , Jennifer Friedman
- , Alyssa Gates
- , Jamal Ghoumid
- , Emma Hobson
- , Gabriella Horvath
- , Jennifer Keller-Ramey
- , Boris Keren
- , Manju A. Kurian
- , Virgina Lee
- , Kathleen A. Leppig
- , Johan Lundgren
- , Marie T. McDonald
- , Amy McTague
- , Heather C. Mefford
- , Cyril Mignot
- , Mohamad A. Mikati
- , Caroline Nava
- , F. Lucy Raymond
- , Julian R. Sampson
- , Alba Sanchis-Juan
- , Vandana Shashi
- , Joseph T. C. Shieh
- , Marwan Shinawi
- , Anne Slavotinek
- , Tommy Stödberg
- , Nicholas Stong
- , Jennifer A. Sullivan
- , Ashley C. Taylor
- , Tomi L. Toler
- , Marie-José van den Boogaard
- , Saskia N. van der Crabben
- , Koen L. I. van Gassen
- , Richard H. van Jaarsveld
- , Jessica Van Ziffle
- , Alexandrea F. Wadley
- , Matias Wagner
- , Kristen Wigby
- , Saskia B. Wortmann
- , Yuri A. Zarate
- , Rikke S. Møller
- , Johannes R. Lemke
- & Konrad Platzer
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Research | | Open
Automated syndrome diagnosis by three-dimensional facial imaging
- Benedikt Hallgrímsson
- , J. David Aponte
- , David C. Katz
- , Jordan J. Bannister
- , Sheri L. Riccardi
- , Nick Mahasuwan
- , Brenda L. McInnes
- , Tracey M. Ferrara
- , Danika M. Lipman
- , Amanda B. Neves
- , Jared A. J. Spitzmacher
- , Jacinda R. Larson
- , Gary A. Bellus
- , Anh M. Pham
- , Elias Aboujaoude
- , Timothy A. Benke
- , Kathryn C. Chatfield
- , Shanlee M. Davis
- , Ellen R. Elias
- , Robert W. Enzenauer
- , Brooke M. French
- , Laura L. Pickler
- , Joseph T. C. Shieh
- , Anne Slavotinek
- , A. Robertson Harrop
- , A. Micheil Innes
- , Shawn E. McCandless
- , Emily A. McCourt
- , Naomi J. L. Meeks
- , Nicole R. Tartaglia
- , Anne C.-H. Tsai
- , J. Patrick H. Wyse
- , Jonathan A. Bernstein
- , Pedro A. Sanchez-Lara
- , Nils D. Forkert
- , Francois P. Bernier
- , Richard A. Spritz
- & Ophir D. Klein
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Research |
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7
- Laura Castilla-Vallmanya
- , Kaja K. Selmer
- , Clémantine Dimartino
- , Raquel Rabionet
- , Bernardo Blanco-Sánchez
- , Sandra Yang
- , Margot R. F. Reijnders
- , Antonie J. van Essen
- , Myriam Oufadem
- , Magnus D. Vigeland
- , Barbro Stadheim
- , Gunnar Houge
- , Helen Cox
- , Helen Kingston
- , Jill Clayton-Smith
- , Jeffrey W. Innis
- , Maria Iascone
- , Anna Cereda
- , Sara Gabbiadini
- , Wendy K. Chung
- , Victoria Sanders
- , Joel Charrow
- , Emily Bryant
- , John Millichap
- , Antonio Vitobello
- , Christel Thauvin
- , Frederic Tran Mau-Them
- , Laurence Faivre
- , Gaetan Lesca
- , Audrey Labalme
- , Christelle Rougeot
- , Nicolas Chatron
- , Damien Sanlaville
- , Katherine M. Christensen
- , Amelia Kirby
- , Raymond Lewandowski
- , Rachel Gannaway
- , Maha Aly
- , Anna Lehman
- , Lorne Clarke
- , Luitgard Graul-Neumann
- , Christiane Zweier
- , Davor Lessel
- , Bernarda Lozic
- , Ingvild Aukrust
- , Ryan Peretz
- , Robert Stratton
- , Thomas Smol
- , Anne Dieux-Coëslier
- , Joanna Meira
- , Elizabeth Wohler
- , Nara Sobreira
- , Erin M. Beaver
- , Jennifer Heeley
- , Lauren C. Briere
- , Frances A. High
- , David A. Sweetser
- , Melissa A. Walker
- , Catherine E. Keegan
- , Parul Jayakar
- , Marwan Shinawi
- , Wilhelmina S. Kerstjens-Frederikse
- , Dawn L. Earl
- , Victoria M. Siu
- , Emma Reesor
- , Tony Yao
- , Robert A. Hegele
- , Olena M. Vaske
- , Shannon Rego
- , Kevin A. Shapiro
- , Brian Wong
- , Michael J. Gambello
- , Marie McDonald
- , Danielle Karlowicz
- , Roberto Colombo
- , Alessandro Serretti
- , Lynn Pais
- , Anne O’Donnell-Luria
- , Alison Wray
- , Simon Sadedin
- , Belinda Chong
- , Tiong Y. Tan
- , John Christodoulou
- , Susan M. White
- , Anne Slavotinek
- , Deborah Barbouth
- , Dayna Morel Swols
- , Mélanie Parisot
- , Christine Bole-Feysot
- , Patrick Nitschké
- , Véronique Pingault
- , Arnold Munnich
- , Megan T. Cho
- , Valérie Cormier-Daire
- , Susanna Balcells
- , Stanislas Lyonnet
- , Daniel Grinberg
- , Jeanne Amiel
- , Roser Urreizti
- & Christopher T. Gordon
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Books and Arts |
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| Open
A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation
- Jessica Ezzell Hunter
- , Stephanie A. Irving
- , Leslie G. Biesecker
- , Adam Buchanan
- , Brian Jensen
- , Kristy Lee
- , Christa Lese Martin
- , Laura Milko
- , Kristin Muessig
- , Annie D. Niehaus
- , Julianne O’Daniel
- , Margaret A. Piper
- , Erin M. Ramos
- , Sheri D. Schully
- , Alan F. Scott
- , Anne Slavotinek
- , Nara Sobreira
- , Natasha Strande
- , Meredith Weaver
- , Elizabeth M. Webber
- , Marc S. Williams
- , Jonathan S. Berg
- , James P. Evans
- & Katrina A.B. Goddard
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Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome
- Anneke Kievit
- , Federico Tessadori
- , Hannie Douben
- , Ingrid Jordens
- , Madelon Maurice
- , Jeannette Hoogeboom
- , Raoul Hennekam
- , Sheela Nampoothiri
- , Hülya Kayserili
- , Marco Castori
- , Margo Whiteford
- , Connie Motter
- , Catherine Melver
- , Michael Cunningham
- , Anne Hing
- , Nancy M. Kokitsu-Nakata
- , Siulan Vendramini-Pittoli
- , Antonio Richieri-Costa
- , Annette F. Baas
- , Corstiaan C. Breugem
- , Karen Duran
- , Maarten Massink
- , Patrick W. B. Derksen
- , Wilfred F. J. van IJcken
- , Leontine van Unen
- , Fernando Santos-Simarro
- , Pablo Lapunzina
- , Vera L. Gil-da Silva Lopes
- , Elaine Lustosa-Mendes
- , Max Krall
- , Anne Slavotinek
- , Victor Martinez-Glez
- , Jeroen Bakkers
- , Koen L. I. van Gassen
- , Annelies de Klein
- , Marie-José H. van den Boogaard
- & Gijs van Haaften
