1. A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations. (September 2018) Authors: Lee, Eric; Le, Trang; Zhu, Ying; Elakis, George; Turner, Anne; Lo, William; Venselaar, Hanka; Verrenkamp, Carol-Ann; Snow, Nicole; Mowat, David; Kirk, Edwin Philip; Sachdev, Rani; Smith, Janine; Brown, Natasha Jane; Wallis, Mathew; Barnett, Chris; McKenzie, Fiona; Freckmann, Mary-Louise; Collins,... Journal: Genetics in medicine Issue: Volume 20:Number 9(2018) Page Start: 1061 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Age range for inclusion affects ascertainment by birth defects registers. Issue 9 (21st June 2016) Authors: Gibson, Catherine S.; Scott, Heather; Haan, Eric; Scheil, Wendy Journal: Birth defects research Issue: Volume 106:Issue 9(2016) Page Start: 761 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Assessment of myocardial oxygenation, strain, and diastology in MYBPC3-related hypertrophic cardiomyopathy: a cardiovascular magnetic resonance and echocardiography study. (21st January 2019) Authors: Grover, Suchi; Lloyd, Rachael; Perry, Rebecca; Lou, Pey Wen; Haan, Eric; Yeates, Laura; Woodman, Richard; Atherton, John J; Semsarian, Chris; Selvanayagam, Joseph B Journal: European heart journal Issue: Volume 20:Number 8(2019) Page Start: 932 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. CDH1‐related blepharocheilodontic syndrome is associated with diffuse gastric cancer risk. Issue 7 (17th April 2020) Authors: LeBlanc, Shannon; Naveen, Dildeepa; Haan, Eric; Barnett, Christopher; Rawlings, Lesley; Roscioli, Tony; Poplawski, Nicola Journal: American journal of medical genetics Issue: Volume 182:Issue 7(2020) Page Start: 1780 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Clinical and molecular spectrum of CHOPS syndrome. Issue 7 (6th May 2019) Authors: Raible, Sarah E.; Mehta, Devanshi; Bettale, Chiara; Fiordaliso, Sarah; Kaur, Maninder; Medne, Livija; Rio, Marlene; Haan, Eric; White, Susan M.; Cusmano‐Ozog, Kristina; Nishi, Eriko; Guo, Yiran; Wu, Honglin; Shi, Xiaoqing; Zhao, Qingjie; Zhang, Xueqin; Lei, Qi; Lu, Aimei; He, Xiyu; Okamoto, Nobuhiko Journal: American journal of medical genetics Issue: Volume 179:Issue 7(2019) Page Start: 1126 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1. Issue 1 (26th October 2019) Authors: Koczkowska, Magdalena; Callens, Tom; Chen, Yunjia; Gomes, Alicia; Hicks, Alesha D.; Sharp, Angela; Johns, Eric; Uhas, Kim Armfield; Armstrong, Linlea; Bosanko, Katherine Armstrong; Babovic‐Vuksanovic, Dusica; Baker, Laura; Basel, Donald G.; Bengala, Mario; Bennett, James T.; Chambers, Chelsea; Cl... Journal: Human mutation Issue: Volume 41:Issue 1(2020) Page Start: 299 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. Issue 3 (14th September 2009) Authors: Hynes, Kim; Tarpey, Patrick; Dibbens, Leanne M; Bayly, Marta A; Berkovic, Samuel F; Smith, Raffaella; Raisi, Zahyia Al; Turner, Samantha J; Brown, Natasha J; Desai, Tarishi D; Haan, Eric; Turner, Gillian; Christodoulou, John; Leonard, Helen; Gill, Deepak; Stratton, Michael R; Gecz, Jozef; Scheffe... Journal: Journal of medical genetics Issue: Volume 47:Issue 3(2010) Page Start: 211 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Epilepsy with cognitive deficit and autism spectrum disorders: Prospective diagnosis by array CGH123. Issue 1 (26th November 2012) Authors: Nicholl, Jillian; Waters, Wendy; Suwalski, Shanna; Brown, Sue; Hull, Yvonne; Harbord, Michael G.; Entwistle, John; Thompson, Suzanna; Clark, Damian; Pridmore, Claire; Haan, Eric; Barnett, Christopher; McGregor, Lesley; Liebelt, Jan; Thompson, Elizabeth M.; Friend, Kathryn; Bain, Sharon M.; Yu, Su... Journal: American journal of medical genetics Issue: Volume 162:Issue 1(2013) Page Start: 24 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Functional genomics analysis identifies loss of HNF1B function as a cause of Mayer–Rokitansky–Küster–Hauser syndrome. Issue 6 (25th October 2022) Authors: Thomson, Ella; Tran, Minh; Robevska, Gorjana; Ayers, Katie; van der Bergen, Jocelyn; Gopalakrishnan Bhaskaran, Prarthna; Haan, Eric; Cereghini, Silvia; Vash-Margita, Alla; Margetts, Miranda; Hensley, Alison; Nguyen, Quan; Sinclair, Andrew; Koopman, Peter; Pelosi, Emanuele Journal: Human molecular genetics Issue: Volume 32:Issue 6(2023) Page Start: 1032 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Human Genetics Society of Australasia Position Statement: Population-Based Carrier Screening for Cystic Fibrosis. (28th November 2014) Authors: Delatycki, Martin B.; Burke, Jo; Christie, Louise; Collins, Felicity; Gabbett, Michael; George, Peter; Haan, Eric; Ioannou, Liane; Martin, Nicole; McKenzie, Fiona; O'Leary, Peter; Scoble-Williams, Nicole; Turner, Gillian; Massie, John Journal: Twin research and human genetics Issue: Volume 17:Number 6(2014) Page Start: 578 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗