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	21.	Microphthalmia, anophthalmia, and coloboma and associated ocular and systemic features: understanding the spectrum. [electronic resource] by Skalicky, Simon E White, Andrew J R Grigg, John R Martin, Frank Smith, Jeremy Jones, Michael Donaldson, Craig Smith, James E H Flaherty, Maree Jamieson, Robyn V Producer: 20140203 In: JAMA ophthalmology vol. 131 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	22.	Dkk1 and Wnt3 interact to control head morphogenesis in the mouse. [electronic resource] by Lewis, Samara L Khoo, Poh-Lynn De Young, R Andrea Steiner, Kirsten Wilcock, Chris Mukhopadhyay, Mahua Westphal, Heiner Jamieson, Robyn V Robb, Lorraine Tam, Patrick P L Producer: 20080825 In: Development (Cambridge, England) vol. 135 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	23.	A dominant mutation within the DNA-binding domain of the bZIP transcription factor Maf causes murine cataract and results in selective alteration in DNA binding. [electronic resource] by Lyon, Mary F Jamieson, Robyn V Perveen, Rahat Glenister, Peter H Griffiths, Robert Boyd, Yvonne Glimcher, Laurie H Favor, Jack Munier, Francis L Black, Graeme C M Producer: 20031112 In: Human molecular genetics vol. 12 Availability: No items available. Save to lists Add to cart (remove)
	24.	Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patients. [electronic resource] by Prokudin, Ivan Li, Dong He, Sijie Guo, Yiran Goodwin, Linda Wilson, Meredith Rose, Loreto Tian, Lifeng Chen, Yulan Liang, Jinlong Keating, Brendan Xu, Xun Jamieson, Robyn V Hakonarson, Hakon Producer: 20150826 In: Clinical & experimental ophthalmology vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	25.	Novel SOX2 partner-factor domain mutation in a four-generation family. [electronic resource] by Mihelec, Marija Abraham, Peter Gibson, Kate Krowka, Renata Susman, Rachel Storen, Rebecca Chen, Yongjuan Donald, Jenny Tam, Patrick P L Grigg, John R Flaherty, Maree Gole, Glen A Jamieson, Robyn V Producer: 20100112 In: European journal of human genetics : EJHG vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	26.	Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. [electronic resource] by Ma, Alan S Grigg, John R Ho, Gladys Prokudin, Ivan Farnsworth, Elizabeth Holman, Katherine Cheng, Anson Billson, Frank A Martin, Frank Fraser, Clare Mowat, David Smith, James Christodoulou, John Flaherty, Maree Bennetts, Bruce Jamieson, Robyn V Producer: 20161213 In: Human mutation vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	27.	Advantage of Whole Exome Sequencing over Allele-Specific and Targeted Segment Sequencing in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis. [electronic resource] by Guo, Yiran Prokudin, Ivan Yu, Cong Liang, Jinlong Xie, Yi Flaherty, Maree Tian, Lifeng Crofts, Stephanie Wang, Fengxiang Snyder, James Donaldson, Craig Abdel-Magid, Nada Vazquez, Lyam Keating, Brendan Hakonarson, Hakon Wang, Jun Jamieson, Robyn V Producer: 20160719 In: Ophthalmic genetics vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	28.	Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation. [electronic resource] by Jamieson, Robyn V Farrar, Nicola Stewart, Katrina Perveen, Rahat Mihelec, Marija Carette, Martin Grigg, John R McAvoy, John W Lovicu, Frank J Tam, Patrick P L Scambler, Peter Lloyd, I Christopher Donnai, Dian Black, Graeme C M Producer: 20071023 In: Human mutation vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	29.	An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation. [electronic resource] by Cederquist, Gustav Y Luchniak, Anna Tischfield, Max A Peeva, Maya Song, Yuyu Menezes, Manoj P Chan, Wai-Man Andrews, Caroline Chew, Sheena Jamieson, Robyn V Gomes, Lavier Flaherty, Maree Grant, Patricia Ellen Gupta, Mohan L Engle, Elizabeth C Producer: 20130515 In: Human molecular genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	30.	Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes. [electronic resource] by Léger, Sandy Balguerie, Xavier Goldenberg, Alice Drouin-Garraud, Valérie Cabot, Annick Amstutz-Montadert, Isabelle Young, Paul Joly, Pascal Bodereau, Virginie Holder-Espinasse, Muriel Jamieson, Robyn V Krause, Amanda Chen, Hongsheng Baumann, Clarisse Nunes, Luis Dollfus, Hélène Goossens, Michel Pingault, Véronique Producer: 20120910 In: European journal of human genetics : EJHG vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	31.	Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization. [electronic resource] by Greenlees, Rebecca Mihelec, Marija Yousoof, Saira Speidel, Daniel Wu, Selwin K Rinkwitz, Silke Prokudin, Ivan Perveen, Rahat Cheng, Anson Ma, Alan Nash, Benjamin Gillespie, Rachel Loebel, David A F Clayton-Smith, Jill Lloyd, I Christopher Grigg, John R Tam, Patrick P L Yap, Alpha S Becker, Thomas S Black, Graeme C M Semina, Elena Jamieson, Robyn V Producer: 20160712 In: Human molecular genetics vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	32.	Detection of chromosomal breakpoints in patients with developmental delay and speech disorders. [electronic resource] by Utami, Kagistia H Hillmer, Axel M Aksoy, Irene Chew, Elaine G Y Teo, Audrey S M Zhang, Zhenshui Lee, Charlie W H Chen, Pauline J Seng, Chan Chee Ariyaratne, Pramila N Rouam, Sigrid L Soo, Lim Seong Yousoof, Saira Prokudin, Ivan Peters, Gregory Collins, Felicity Wilson, Meredith Kakakios, Alyson Haddad, Georges Menuet, Arnaud Perche, Olivier Tay, Stacey Kiat Hong Sung, Ken W K Ruan, Xiaoan Ruan, Yijun Liu, Edison T Briault, Sylvain Jamieson, Robyn V Davila, Sonia Cacheux, Valere Producer: 20150212 In: PloS one vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	33.	ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder. [electronic resource] by Williams, Lloyd B Javed, Asif Sabri, Amin Morgan, Denise J Huff, Chad D Grigg, John R Heng, Xiu Ting Khng, Alexis J Hollink, Iris H I M Morrison, Margaux A Owen, Leah A Anderson, Katherine Kinard, Krista Greenlees, Rebecca Novacic, Danica Nida Sen, H Zein, Wadih M Rodgers, George M Vitale, Albert T Haider, Neena B Hillmer, Axel M Ng, Pauline C Cheng, Anson Zheng, Linda Gillies, Mark C van Slegtenhorst, Marjon van Hagen, P Martin Missotten, Tom O A R Farley, Gary L Polo, Michael Malatack, James Curtin, Julie Martin, Frank Arbuckle, Susan Alexander, Stephen I Chircop, Megan Davila, Sonia Digre, Kathleen B Jamieson, Robyn V DeAngelis, Margaret M Producer: 20200204 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	34.	Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. [electronic resource] by Tischfield, Max A Baris, Hagit N Wu, Chen Rudolph, Guenther Van Maldergem, Lionel He, Wei Chan, Wai-Man Andrews, Caroline Demer, Joseph L Robertson, Richard L Mackey, David A Ruddle, Jonathan B Bird, Thomas D Gottlob, Irene Pieh, Christina Traboulsi, Elias I Pomeroy, Scott L Hunter, David G Soul, Janet S Newlin, Anna Sabol, Louise J Doherty, Edward J de Uzcátegui, Clara E de Uzcátegui, Nicolas Collins, Mary Louise Z Sener, Emin C Wabbels, Bettina Hellebrand, Heide Meitinger, Thomas de Berardinis, Teresa Magli, Adriano Schiavi, Costantino Pastore-Trossello, Marco Koc, Feray Wong, Agnes M Levin, Alex V Geraghty, Michael T Descartes, Maria Flaherty, Maree Jamieson, Robyn V Møller, H U Meuthen, Ingo Callen, David F Kerwin, Janet Lindsay, Susan Meindl, Alfons Gupta, Mohan L Pellman, David Engle, Elizabeth C Producer: 20100204 In: Cell vol. 140 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)