Showing 1–14 of 14 results
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News and Views |
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Research |
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Research |
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome
- Andrew J Sharp
- , Sierra Hansen
- , Rebecca R Selzer
- , Ze Cheng
- , Regina Regan
- , Jane A Hurst
- , Helen Stewart
- , Sue M Price
- , Edward Blair
- , Raoul C Hennekam
- , Carrie A Fitzpatrick
- , Rick Segraves
- , Todd A Richmond
- , Cheryl Guiver
- , Donna G Albertson
- , Daniel Pinkel
- , Peggy S Eis
- , Stuart Schwartz
- , Samantha J L Knight
- & Evan E Eichler
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Research |
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy
- Ingo Helbig
- , Heather C Mefford
- , Andrew J Sharp
- , Michel Guipponi
- , Marco Fichera
- , Andre Franke
- , Hiltrud Muhle
- , Carolien de Kovel
- , Carl Baker
- , Sarah von Spiczak
- , Katherine L Kron
- , Ines Steinich
- , Ailing A Kleefuß-Lie
- , Costin Leu
- , Verena Gaus
- , Bettina Schmitz
- , Karl M Klein
- , Philipp S Reif
- , Felix Rosenow
- , Yvonne Weber
- , Holger Lerche
- , Fritz Zimprich
- , Lydia Urak
- , Karoline Fuchs
- , Martha Feucht
- , Pierre Genton
- , Pierre Thomas
- , Frank Visscher
- , Gerrit-Jan de Haan
- , Rikke S Møller
- , Helle Hjalgrim
- , Daniela Luciano
- , Michael Wittig
- , Michael Nothnagel
- , Christian E Elger
- , Peter Nürnberg
- , Corrado Romano
- , Alain Malafosse
- , Bobby P C Koeleman
- , Dick Lindhout
- , Ulrich Stephani
- , Stefan Schreiber
- , Evan E Eichler
- & Thomas Sander
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Research |
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Research | | Open
Identification of rare de novo epigenetic variations in congenital disorders
- Mafalda Barbosa
- , Ricky S. Joshi
- , Paras Garg
- , Alejandro Martin-Trujillo
- , Nihir Patel
- , Bharati Jadhav
- , Corey T. Watson
- , William Gibson
- , Kelsey Chetnik
- , Chloe Tessereau
- , Hui Mei
- , Silvia De Rubeis
- , Jennifer Reichert
- , Fatima Lopes
- , Lisenka E. L. M. Vissers
- , Tjitske Kleefstra
- , Dorothy E. Grice
- , Lisa Edelmann
- , Gabriela Soares
- , Patricia Maciel
- , Han G. Brunner
- , Joseph D. Buxbaum
- , Bruce D. Gelb
- & Andrew J. Sharp
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Research | | Open
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Research | | Open
Loss of RNA expression and allele-specific expression associated with congenital heart disease
- David M. McKean
- , Jason Homsy
- , Hiroko Wakimoto
- , Neil Patel
- , Joshua Gorham
- , Steven R. DePalma
- , James S. Ware
- , Samir Zaidi
- , Wenji Ma
- , Nihir Patel
- , Richard P. Lifton
- , Wendy K. Chung
- , Richard Kim
- , Yufeng Shen
- , Martina Brueckner
- , Elizabeth Goldmuntz
- , Andrew J. Sharp
- , Christine E. Seidman
- , Bruce D. Gelb
- & J. G. Seidman
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Research | | Open
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Research |
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Research |
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures
- Andrew J Sharp
- , Heather C Mefford
- , Kelly Li
- , Carl Baker
- , Cindy Skinner
- , Roger E Stevenson
- , Richard J Schroer
- , Francesca Novara
- , Manuela De Gregori
- , Roberto Ciccone
- , Adam Broomer
- , Iris Casuga
- , Yu Wang
- , Chunlin Xiao
- , Catalin Barbacioru
- , Giorgio Gimelli
- , Bernardo Dalla Bernardina
- , Claudia Torniero
- , Roberto Giorda
- , Regina Regan
- , Victoria Murday
- , Sahar Mansour
- , Marco Fichera
- , Lucia Castiglia
- , Pinella Failla
- , Mario Ventura
- , Zhaoshi Jiang
- , Gregory M Cooper
- , Samantha J L Knight
- , Corrado Romano
- , Orsetta Zuffardi
- , Caifu Chen
- , Charles E Schwartz
- & Evan E Eichler
