Peter Farlie

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

The ontogeny of Robin sequence

Robrecht JH Logjes, Corstiaan C Breugem, Gijs Van Haaften, Emma C Paes, Geoffrey H Sperber, Marie-Jose H van den Boogaard, Peter G Farlie

Journal article  |  2018  |  AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The triad of micrognathia, glossoptosis, and concomitant airway obstruction defined as "Robin sequence" (RS) is caused by orophary..

Deficiency of the Wnt receptor Ryk causes multiple cardiac and outflow tract defects

Kumudhini Kugathasan, Michael M Halford, Peter G Farlie, Damien Bates, Darrin P Smith, You Fang Zhang, James P Roy, Maria L Macheda, Dong Zhang, James L Wilkinson, Margaret L Kirby, Donald F Newgreen, Steven A Stacker

Journal article  |  2018  |  GROWTH FACTORS

Ryk is a member of the receptor tyrosine kinase (RTK) family of proteins that control and regulate cellular processes. It is disti..

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..

Limb patterning genes and heterochronic development of the emu wing bud

Craig A Smith, Peter G Farlie, Nadia M Davidson, Kelly N Roeszler, Claire Hirst, Alicia Oshlack, David M Lambert

Journal article  |  2016  |  EVODEVO

BACKGROUND: The forelimb of the flightless emu is a vestigial structure, with greatly reduced wing elements and digit loss. To exp..

GAPTrap: A Simple Expression System for Pluripotent Stem Cells and Their Derivatives

Tim Kao, Tanya Labonne, Jonathan C Niclis, Ritu Chaurasia, Zerina Lokmic, Elizabeth Qian, Freya F Bruveris, Sara E Howden, Ali Motazedian, Jacqueline V Schiesser, Magdaline Costa, Koula Sourris, Elizabeth Ng, David Anderson, Antonietta Giudice, Peter Farlie, Michael Cheung, Shireen R Lamande, Anthony J Penington, Clare L Parish, et al.

Journal article  |  2016  |  STEM CELL REPORTS

The ability to reliably express fluorescent reporters or other genes of interest is important for using human pluripotent stem cel..

Best Practices for the Diagnosis and Evaluation of Infants With Robin Sequence A Clinical Consensus Report

Corstiaan C Breugem, Kelly N Evans, Christian F Poets, Sunjay Suri, Arnaud Picard, Charles Filip, Emma C Paes, Felicity V Mehendale, Howard M Saal, Hanneke Basart, Jyotsna Murthy, Koen FM Joosten, Lucienne Speleman, Marcus VM Collares, Marie-Jose H van den Boogaard, Marvick Muradin, Maud Els-Marie Andersson, Mikihiko Kogo, Peter G Farlie, Peter Don Griot, et al.

Journal article  |  2016  |  JAMA PEDIATRICS

IMPORTANCE: Robin sequence (RS) is a congenital condition characterized by micrognathia, glossoptosis, and upper airway obstructio..

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 ..