Naomi Baker

Heterozygous BMP2 mutations leading to haploinsufficiency cause a recognisable human syndrome comprising short stature, palatal anomalies, congenital heart disease and skeletal malformations

TY Tan, E Bhoj, K Strauss, K Brigatti, E Puffenberger, D Li, CG Gonzaga-Jauregui, PJ Simm, BO Jones, M Raabus, L Miles, M Ramialison, J Kaslin, NL Baker, PG Farlie

Conference Proceedings  |  2018  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions

Yang Tan Tiong, Claudia Gonzaga-Jauregui, Elizabeth J Bhoj, Kevin A Strauss, Karlla Brigatti, Erik Puffenberger, Dong Li, LiQin Xie, Nanditha Das, Ioanna Skubas, Ron A Deckelbaum, Virginia Hughes, Susannah Brydges, Sarah Hatsell, Chia-Jen Siao, Melissa G Dominguez, Aris Economides, John D Overton, Valerie Mayne, Peter J Simm, et al.

Journal article  |  2017  |  American Journal of Human Genetics

Co-option of the cardiac transcription factor Nkx2.5 during development of the emu wing

Peter G Farlie, Nadia M Davidson, Naomi L Baker, Mai Raabus, Kelly N Roeszler, Claire Hirst, Andrew Major, Mylene M Mariette, David M Lambert, Alicia Oshlack, Craig A Smith

Journal article  |  2017  |  Nature Communications

Frontonasal Dysplasia: Towards an Understanding of Molecular and Developmental Aetiology

Peter G Farlie, Naomi L Baker, Patrick Yap, Tiong Y Tan

Journal article  |  2016  |  Molecular Syndromology

Clinical and Molecular Characterisation of Children with Pierre Robin Sequence and Additional Anomalies

Jessie X Xu, Nicky Kilpatrick, Naomi L Baker, Anthony Penington, Peter G Farlie, Tiong Yang Tan

Journal article  |  2016  |  Molecular Syndromology

Olfr603, an orphan olfactory receptor, is expressed in multiple specific embryonic tissues

Naomi L Baker, Kerry A Miller, Donald F Newgreen, Peter G Farlie

Journal article  |  2015  |  Gene Expression Patterns

The Collagenopathies: Review of Clinical Phenotypes and Molecular Correlations

Rebekah Jobling, Rohan D'Souza, Naomi Baker, Irene Lara-Corrales, Roberto Mendoza-Londono, Lucie Dupuis, Ravi Savarirayan, L Ala-Kokko, Peter Kannu

Journal article  |  2014  |  Current Rheumatology Reports

Collagen VI Microfibril Formation Is Abolished by an alpha 2(VI) von Willebrand Factor Type A Domain Mutation in a Patient with Ullrich Congenital Muscular Dystrophy

Leona D Tooley, Laura K Zamurs, Nicola Beecher, Naomi L Baker, Rachel A Peat, Naomi E Adams, John F Bateman, Kathryn N North, Clair Baldock, Shireen R Lamande

Journal article  |  2010  |  Journal of Biological Chemistry

Reduction of Lysyl Hydroxylase 3 Causes Deleterious Changes in the Deposition and Organization of Extracellular Matrix

Maija Risteli, Heli Ruotsalainen, Antti M Salo, Raija Sormunen, Laura Sipila, Naomi L Baker, Shireen R Lamande, Leena Vimpari-Kauppinen, Raili Myllyla

Journal article  |  2009  |  Journal of Biological Chemistry

Collagen VI glycine mutations: Perturbed assembly and a spectrum of clinical severity

Rishika A Pace, Rachel A Peat, Naomi L Baker, Laura Zamurs, Matthias Moergelin, Melita Irving, Naomi E Adams, John F Bateman, David Mowat, Nicholas JC Smith, Phillipa J Lamont, Steven A Moore, Katherine D Mathews, Kathryn N North, Shireen R Lamande

Journal article  |  2008  |  Annals of Neurology