Compositions and methods for treating disorders of genomic imprinting

Lalande Marc , Langouet Maéva , Cotney Justin , Chamberlain Stormy

2019
Abo M Andrade-Nascimento M Berens M Berthier M

C Caltagirone , R Carleton , P Cavalcanti-Ribeiro , M Chamberlain

COMPOSITIONS AND METHODS FOR TREATMENT OF GENOMIC FOOTPRINT DISORDERS

Stormy CHAMBERLAIN , Justin COTNEY , Maéva LANGOUET , Marc Lalande

2021
A bipartite boundary element restricts UBE3A imprinting to mature neurons.

Jack S. Hsiao , Noelle D. Germain , Andrea Wilderman , Christopher Stoddard
Proceedings of the National Academy of Sciences of the United States of America 116 ( 6) 2181 -2186

22
2019
Neurodevelopmental disorders involving genomic imprinting at human chromosome 15q11-q13.

Stormy J. Chamberlain , Marc Lalande
Neurobiology of Disease 39 ( 1) 13 -20

82
2010
Polycomb repressive complex 2 is dispensable for maintenance of embryonic stem cell pluripotency

Stormy J. Chamberlain , Della Yee , Terry Magnuson
Stem Cells 26 ( 6) 1496 -1505

378
2008
Induced pluripotent stem (iPS) cells as in vitro models of human neurogenetic disorders

Stormy J. Chamberlain , Xue-Jun Li , Marc Lalande
Neurogenetics 9 ( 4) 227 -235

58
2008
Topoisomerases facilitate transcription of long genes linked to autism

Angela M. Mabb , Jack S. Hsiao , Hsien-Sung Huang , Brandon L. Pearson
Nature 501 ( 7465) 58 -62

266
2013
Prader-Willi syndrome: reflections on seminal studies and future therapies.

Michael S. Chung , Maéva Langouët , Stormy J. Chamberlain , Gordon G. Carmichael
Open Biology 10 ( 9) 200195

20
2020
BIOLOGICAL SCIENCES: Genetics

Jack S. Hsiao , Noelle D. Germain , Andrea Wilderman , Christopher Stoddard
bioRxiv 404061

2018
RBFOX1 and RBFOX2 are dispensable in iPSCs and iPSC-derived neurons and do not contribute to neural-specific paternal UBE3A silencing.

Pin-Fang Chen , Jack S. Hsiao , Carissa L. Sirois , Stormy J. Chamberlain
Scientific Reports 6 ( 1) 25368 -25368

15
2016
RNAs of the human chromosome 15q11-q13 imprinted region.

Stormy J. Chamberlain
Wiley Interdisciplinary Reviews - Rna 4 ( 2) 155 -166

23
2013
Dsl1p, an essential protein required for membrane traffic at the endoplasmic reticulum/Golgi interface in yeast.

Susan M. VanRheenen , Barbara A. Reilly , Stormy J. Chamberlain , M. Gerard Waters
Traffic 2 ( 3) 212 -231

39
2001
Imprinted expression of UBE3A in non-neuronal cells from a Prader-Willi syndrome patient with an atypical deletion

Kristen Martins-Taylor , Jack S. Hsiao , Pin-Fang Chen , Heather Glatt-Deeley
Human Molecular Genetics 23 ( 9) 2364 -2373

45
2014
Disease modelling using human iPSCs

Stormy J. Chamberlain
Human Molecular Genetics 25

10
2016
Transcription Is Required to Establish Maternal Imprinting at the Prader-Willi Syndrome and Angelman Syndrome Locus

Emily Y. Smith , Christopher R. Futtner , Stormy J. Chamberlain , Karen A. Johnstone
PLoS Genetics 7 ( 12) e1002422

61
2011