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

Bone morphogenetic protein 2 (BMP2) in chromosomal region 20p12 belongs to a gene superfamily encoding TGF-β-signaling proteins in..

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

The ratites are a distinctive clade of flightless birds, typified by the emu and ostrich that have acquired a range of unique anat..

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

The complex anatomy of the skull and face arises from the requirement to support multiple sensory and structural functions. During..

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

Pierre Robin Sequence (PRS) is usually classified into syndromic and nonsyndromic groups, with a further subclassification of the ..

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

BACKGROUND: Olfactory receptors were initially believed to be expressed specifically within the olfactory neurons. However, accumu..

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

Genetic defects of collagen formation (the collagenopathies) affect almost every organ system and tissue in the body. They can be ..

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

Collagen VI is an extracellular protein that most often contains the three genetically distinct polypeptide chains, α1(VI), α2(VI)..

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

Lysyl hydroxylase 3 (LH3) is a multifunctional enzyme possessing lysyl hydroxylase, collagen galactosyltransferase, and glucosyltr..

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

OBJECTIVE: The collagen VI muscular dystrophies, Bethlem myopathy and Ullrich congenital muscular dystrophy, form a continuum of c..