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

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

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

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

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

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

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