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Maize maintains growth in response to decreased nitrate supply through a highly dynamic and developmental stage-specific transcriptional response.
Published in:
Plant Biotechnology Journal, 2016, v. 14, n. 1, p. 342, doi. 10.1111/pbi.12388
By:
- Plett, Darren;
- Baumann, Ute;
- Schreiber, Andreas W.;
- Holtham, Luke;
- Kalashyan, Elena;
- Toubia, John;
- Nau, John;
- Beatty, Mary;
- Rafalski, Antoni;
- Dhugga, Kanwarpal S.;
- Tester, Mark;
- Garnett, Trevor;
- Kaiser, Brent N.
Publication type:
Article
Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1‐related syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1273, doi. 10.1002/ajmg.a.61541
By:
- Arts, Peer;
- Garland, Jessica;
- Byrne, Alicia B.;
- Hardy, Tristan S.E.;
- Babic, Milena;
- Feng, Jinghua;
- Wang, Paul;
- Ha, Thuong;
- King‐Smith, Sarah L.;
- Schreiber, Andreas W.;
- Crawford, April;
- Manton, Nick;
- Moore, Lynette;
- Barnett, Christopher P.;
- Scott, Hamish S.
Publication type:
Article
Allan-Herndon-Dudley syndrome with unusual profound sensorineural hearing loss.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1872, doi. 10.1002/ajmg.a.37075
By:
- Gagliardi, Lucia;
- Nataren, Nathalie;
- Feng, Jinghua;
- Schreiber, Andreas W.;
- Hahn, Christopher N.;
- Conwell, Louise S.;
- Coman, David;
- Scott, Hamish S.
Publication type:
Article
ARMC5 Mutations Are Common in Familial Bilateral Macronodular Adrenal Hyperplasia.
Published in:
2014
By:
- Gagliardi, Lucia;
- Schreiber, Andreas W;
- Hahn, Christopher N;
- Feng, Jinghua;
- Cranston, Treena;
- Boon, Hannah;
- Hotu, Cheri;
- Oftedal, Bergithe E;
- Cutfield, Richard;
- Adelson, David L;
- Braund, Wilton J;
- Gordon, Richard D;
- Rees, D Aled;
- Grossman, Ashley B;
- Torpy, David J;
- Scott, Hamish S
Publication type:
Journal Article
Aberrant Splicing of SDHC in Families With Unexplained Succinate Dehydrogenase-Deficient Paragangliomas.
Published in:
Journal of the Endocrine Society, 2020, v. 4, n. 12, p. 1, doi. 10.1210/jendso/bvaa071
By:
- Sousa, Sunita M C De;
- Toubia, John;
- Hardy, Tristan S E;
- Feng, Jinghua;
- Wang, Paul;
- Schreiber, Andreas W;
- Geoghegan, Joel;
- Hall, Rachel;
- Rawlings, Lesley;
- Buckland, Michael;
- Luxford, Catherine;
- Novos, Talia;
- Clifton-Bligh, Roderick J;
- Poplawski, Nicola K;
- Scott, Hamish S;
- Torpy, David J
Publication type:
Article
Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6.
Published in:
NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0103-x
By:
- Byrne, Alicia B.;
- Arts, Peer;
- Polyak, Steven W.;
- Feng, Jinghua;
- Schreiber, Andreas W.;
- Kassahn, Karin S.;
- Hahn, Christopher N.;
- Mordaunt, Dylan A.;
- Fletcher, Janice M.;
- Lipsett, Jillian;
- Bratkovic, Drago;
- Booker, Grant W.;
- Smith, Nicholas J.;
- Scott, Hamish S.
Publication type:
Article
miR‐200/375 control epithelial plasticity‐associated alternative splicing by repressing the RNA‐binding protein Quaking.
Published in:
EMBO Journal, 2018, v. 37, n. 13, p. 1, doi. 10.15252/embj.201899016
By:
- Pillman, Katherine A.;
- Phillips, Caroline A.;
- Roslan, Suraya;
- Toubia, John;
- Dredge, B. Kate;
- Bert, Andrew G.;
- Lumb, Rachael;
- Neumann, Daniel P.;
- Li, Xiaochun;
- Conn, Simon J.;
- Liu, Dawei;
- Bracken, Cameron P.;
- Lawrence, David M.;
- Stylianou, Nataly;
- Schreiber, Andreas W.;
- Tilley, Wayne D.;
- Hollier, Brett G.;
- Khew‐Goodall, Yeesim;
- Selth, Luke A.;
- Goodall, Gregory J.
Publication type:
Article
Two monogenic disorders masquerading as one: severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss.
Published in:
BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-0971-z
By:
- Venugopal, Parvathy;
- Gagliardi, Lucia;
- Forsyth, Cecily;
- Feng, Jinghua;
- Phillips, Kerry;
- Babic, Milena;
- Poplawski, Nicola K.;
- Rienhoff, Hugh Young;
- Schreiber, Andreas W.;
- Hahn, Christopher N.;
- Brown, Anna L.;
- Scott, Hamish S.
Publication type:
Article
Comparative transcriptomics in the Triticeae.
Published in:
BMC Genomics, 2009, v. 10, p. 285, doi. 10.1186/1471-2164-10-285
By:
- Schreiber, Andreas W.;
- Sutton, Tim;
- Caldo, Rico A.;
- Kalashyan, Elena;
- Lovell, Ben;
- Mayo, Gwenda;
- Muehlbauer, Gary J.;
- Druka, Arnis;
- Waugh, Robbie;
- Wise, Roger P.;
- Langridge, Peter;
- Baumann, Ute
Publication type:
Article
Sequencing error correction without a reference genome.
Published in:
BMC Bioinformatics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2105-14-367
By:
- Sleep, Julie A.;
- Schreiber, Andreas W.;
- Baumann, Ute
Publication type:
Article
Combining transcriptional datasets using the generalized singular value decomposition.
Published in:
BMC Bioinformatics, 2008, v. 9, p. 1, doi. 10.1186/1471-2105-9-335
By:
- Schreiber, Andreas W.;
- Shirley, Neil J.;
- Burton, Rachel A.;
- Fincher, Geoffrey B.
Publication type:
Article
Cell-Specific Vacuolar Calcium Storage Mediated by CAX1 Regulates Apoplastic Calcium Concentration, Gas Exchange, and Plant Productivity in Arabidopsis.
Published in:
Plant Cell, 2011, v. 23, n. 1, p. 240, doi. 10.1105/tpc.109.072769
By:
- Conn, Simon J.;
- Gilliham, Matthew;
- Athman, Asmini;
- Schreiber, Andreas W.;
- Baumann, Ute;
- Moller, Isabel;
- Cheng, Ning-Hui;
- Stancombe, Matthew A.;
- Hirschi, Kendal D.;
- Webb, Alex A.R.;
- Burton, Rachel;
- Kaiser, Brent N.;
- Tyerman, Stephen D.;
- Leigh, Roger A.
Publication type:
Article
A putative role for the aryl hydrocarbon receptor (AHR) gene in a patient with cyclical Cushing's disease.
Published in:
BMC Endocrine Disorders, 2020, v. 20, n. 1, p. 1, doi. 10.1186/s12902-020-0495-8
By:
- De Sousa, Sunita M. C.;
- Manavis, Jim;
- Feng, Jinghua;
- Wang, Paul;
- Schreiber, Andreas W.;
- Scott, Hamish S.;
- Torpy, David J.
Publication type:
Article
Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia.
Published in:
BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-00911-4
By:
- De Angelis, Carla;
- Byrne, Alicia B.;
- Morrow, Rebecca;
- Feng, Jinghua;
- Ha, Thuong;
- Wang, Paul;
- Schreiber, Andreas W.;
- Babic, Milena;
- Taranath, Ajay;
- Manton, Nick;
- King-Smith, Sarah L.;
- Schwarz, Quenten;
- Arts, Peer;
- Scott, Hamish S.;
- Barnett, Christopher
Publication type:
Article
A framework for gene expression analysis.
Published in:
Bioinformatics, 2007, v. 23, n. 2, p. 191, doi. 10.1093/bioinformatics/btl591
By:
- Andreas W. Schreiber
Publication type:
Article
The Genomic Landscape of Sporadic Prolactinomas.
Published in:
Endocrine Pathology, 2019, v. 30, n. 4, p. 318, doi. 10.1007/s12022-019-09587-0
By:
- De Sousa, Sunita M. C.;
- Wang, Paul P. S.;
- Santoreneos, Stephen;
- Shen, Angeline;
- Yates, Christopher J.;
- Babic, Milena;
- Eshraghi, Leila;
- Feng, Jinghua;
- Koszyca, Barbara;
- Roberts-Thomson, Samuel;
- Schreiber, Andreas W.;
- Torpy, David J.;
- Scott, Hamish S.
Publication type:
Article
Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with Homozygous FGFR2 Mutations Identified by Exome Sequencing.
Published in:
Human Mutation, 2016, v. 37, n. 9, p. 955, doi. 10.1002/humu.23032
By:
- Barnett, Christopher P.;
- Nataren, Nathalie J.;
- Klingler‐Hoffmann, Manuela;
- Schwarz, Quenten;
- Chong, Chan‐Eng;
- Lee, Young K.;
- Bruno, Damien L.;
- Lipsett, Jill;
- McPhee, Andrew J.;
- Schreiber, Andreas W.;
- Feng, Jinghua;
- Hahn, Christopher N.;
- Scott, Hamish S.
Publication type:
Article
Transcriptome-scale homoeolog-specific transcript assemblies of bread wheat.
Published in:
BMC Genomics, 2012, v. 13, n. 1, p. 492, doi. 10.1186/1471-2164-13-492
By:
- Schreiber, Andreas W.;
- Hayden, Matthew J.;
- Forrest, Kerrie L.;
- Kong, Stephan L.;
- Langridge, Peter;
- Baumann, Ute
Publication type:
Article
Discovery of barley miRNAs through deep sequencing of short reads.
Published in:
BMC Genomics, 2011, v. 12, p. 1, doi. 10.1186/1471-2164-12-129
By:
- Schreiber, Andreas W;
- Shi, Bu-Jun;
- Huang, Chun-Yuan;
- Langridge, Peter;
- Baumann, Ute
Publication type:
Article
Discovery of barley miRNAs through deep sequencing of short reads.
Published in:
BMC Genomics, 2011, v. 12, n. 1, p. 129, doi. 10.1186/1471-2164-12-129
By:
- Schreiber, Andreas W.;
- Bu-Jun Shi;
- Chun-Yuan Huang;
- Langridge, Peter;
- Baumann, Ute
Publication type:
Article
BAM-matcher: a tool for rapid NGS sample matching.
Published in:
Bioinformatics, 2016, v. 32, n. 17, p. 2699, doi. 10.1093/bioinformatics/btw239
By:
- Wang, Paul P. S.;
- Parker, Wendy T.;
- Branford, Susan;
- Schreiber, Andreas W.
Publication type:
Article
A comparative analysis of algorithms for somatic SNV detection in cancer.
Published in:
Bioinformatics, 2013, v. 29, n. 18, p. 2223, doi. 10.1093/bioinformatics/btt375
By:
- Roberts, Nicola D.;
- Kortschak, R. Daniel;
- Parker, Wendy T.;
- Schreiber, Andreas W.;
- Branford, Susan;
- Scott, Hamish S.;
- Glonek, Garique;
- Adelson, David L.
Publication type:
Article

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