Works matching AU Craig, Jamie E.

Results: 155

Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel.

Published in:

Human Mutation, 2022, v. 43, n. 12, p. 2170, doi. 10.1002/humu.24482

By:

Burdon, Kathryn P.;
Graham, Patricia;
Hadler, Johanna;
Hulleman, John D.;
Pasutto, Francesca;
Boese, Erin A.;
Craig, Jamie E.;
Fingert, John H.;
Hewitt, Alex W.;
Siggs, Owen M.;
Whisenhunt, Kristina;
Young, Terri L.;
Mackey, David A.;
Dubowsky, Andrew;
Souzeau, Emmanuelle

Publication type:

Article

A novel GSN variant outside the G2 calcium‐binding domain associated with Amyloidosis of the Finnish type.

Published in:

Human Mutation, 2021, v. 42, n. 7, p. 818, doi. 10.1002/humu.24214

By:

Mullany, Sean;
Souzeau, Emmanuelle;
Klebe, Sonja;
Zhou, Tiger;
Knight, Lachlan S. W.;
Qassim, Ayub;
Berry, Ella C.;
Marshall, Henry;
Hussey, Matthew;
Dubowsky, Andrew;
Breen, James;
Hassall, Mark M.;
Mills, Richard A.;
Craig, Jamie E.;
Siggs, Owen M.

Publication type:

Article

Identification of a Novel Oligomerization Disrupting Mutation in CRYΑA Associated with Congenital Cataract in a South Australian Family.

Published in:

Human Mutation, 2013, v. 34, n. 3, p. 435, doi. 10.1002/humu.22260

By:

Laurie, Kate J.;
Dave, Alpana;
Straga, Tania;
Souzeau, Emmanuelle;
Chataway, Timothy;
Sykes, Matthew J.;
Casey, Theresa;
Teo, Theodosia;
Pater, John;
Craig, Jamie E.;
Sharma, Shiwani;
Burdon, Kathryn P.

Publication type:

Article

Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract.

Published in:

Human Mutation, 2009, v. 30, n. 5, p. E603, doi. 10.1002/humu.20995

By:

Zhang, Tianxiao;
Hua, Rui;
Xiao, Wei;
Burdon, Kathryn P.;
Bhattacharya, Shomi S.;
Craig, Jamie E.;
Shang, Dandan;
Zhao, Xiuli;
Mackey, David A.;
Moore, Anthony T.;
Luo, Yang;
Zhang, Jinsong;
Zhang, Xue

Publication type:

Article

Myocilin allele-specific glaucoma phenotype database.

Published in:

2008

By:

Hewitt, Alex W.;
Mackey, David A.;
Craig, Jamie E.

Publication type:

Other

A novel deletion in the FTL gene causes hereditary hyperferritinemia cataract syndrome (HHCS) by alteration of the transcription start site.

Published in:

Human Mutation, 2007, v. 28, n. 7, p. 742, doi. 10.1002/humu.9501

By:

Burdon, Kathryn P.;
Sharma, Shiwani;
Chen, Celia S.;
Dimasi, David P.;
Mackey, David A.;
Craig, Jamie E.

Publication type:

Article

Broad phenotypic variability in a single pedigree with a novel 1410delC mutation in the PST domain of the PAX6 gene.

Published in:

Human Mutation, 2002, v. 20, n. 4, p. 322, doi. 10.1002/humu.9066

By:

Sale, Michèle M.;
Craig, Jamie E.;
Charlesworth, Jacinta C.;
FitzGerald, Liesel M.;
Hanson, Isabel M.;
Dickinson, Joanne L.;
Matthews, Sarah J.;
Heyningen, Veronica van;
Fingert, John H.;
Mackey, David A.

Publication type:

Article

Mitochondrial haplogroups are not associated with diabetic retinopathy in a large Australian and British Caucasian sample.

Published in:

Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-018-37388-8

By:

Liu, Ebony;
Kaidonis, Georgia;
Gillies, Mark C.;
Abhary, Sotoodeh;
Essex, Rohan W.;
Chang, John H.;
Pal, Bishwanath;
Daniell, Mark;
Lake, Stewart;
Gilhotra, Jolly;
Petrovsky, Nikolai;
Hewitt, Alex W.;
Jenkins, Alicia;
Lamoureux, Ecosse L.;
Gleadle, Jonathan M.;
Burdon, Kathryn P.;
Craig, Jamie E.

Publication type:

Article

Laboratory methods in ophthalmic genetics: obtaining DNA from patients.

Published in:

Ophthalmic Genetics, 2001, v. 22, n. 1, p. 49, doi. 10.1076/opge.22.1.49.2240

By:

Dickinson, Joanne L.;
Sale, Michèle M.;
Craig, Jamie E.;
Mackey, David A.

Publication type:

Article

Normal range of hearing associated with myocilin Thr377Met.

Published in:

Ophthalmic Genetics, 1999, v. 20, n. 3, p. 205, doi. 10.1076/opge.20.3.205.2279

By:

Simm, Rae M.;
Fingert, John H.;
Craig, Jamie E.;
McNaught, Andrew I.;
Mackey, David A.

Publication type:

Article

In Utero Exposure to Smoking and Alcohol, and Passive Smoking during Childhood: Effect on the Retinal Nerve Fibre Layer in Young Adulthood.

Published in:

Ophthalmic Epidemiology, 2022, v. 29, n. 5, p. 507, doi. 10.1080/09286586.2021.1968005

By:

Lee, Samantha Sze-Yee;
Mackey, David A;
Sanfilippo, Paul G;
Hewitt, Alex W;
Craig, Jamie E;
Yazar, Seyhan

Publication type:

Article

An Assessment of GUCA1C Variants in Primary Congenital Glaucoma.

Published in:

2021

By:

Souzeau, Emmanuelle;
Weisschuh, Nicole;
Craig, Jamie E.;
Pasutto, Francesca;
Koch, Karl-Wilhelm

Publication type:

Letter

Prevalence and type of artefact with spectral domain optical coherence tomography macular ganglion cell imaging in glaucoma surveillance.

Published in:

PLoS ONE, 2018, v. 13, n. 12, p. 1, doi. 10.1371/journal.pone.0206684

By:

Awadalla, Mona S.;
Fitzgerald, Jude;
Andrew, Nicholas H.;
Zhou, Tiger;
Marshall, Henry;
Qassim, Ayub;
Hassall, Mark;
Casson, Robert J.;
Graham, Stuart L.;
Healey, Paul R.;
Agar, Ashish;
Galanopoulos, Anna;
Phipps, Simon;
Chappell, Angela;
Landers, John;
Craig, Jamie E.

Publication type:

Article

Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent.

Published in:

PLoS ONE, 2018, v. 13, n. 6, p. 1, doi. 10.1371/journal.pone.0199178

By:

Lucas, Sionne E. M.;
Charlesworth, Jac C.;
Burdon, Kathryn P.;
Blackburn, Nicholas B.;
Zhou, Tiger;
Mills, Richard A.;
Souzeau, Emmanuelle;
Ridge, Bronwyn;
Craig, Jamie E.;
Ellis, Jonathan;
Leo, Paul;
Lindsay, Richard

Publication type:

Article

Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma.

Published in:

Nature Genetics, 2015, v. 47, n. 9, p. 987, doi. 10.1038/ng.3373

By:

Molven, Anders;
Puig-Butille, Joan Anton;
Andresen, Per A;
van Doorn, Remco;
Taylor, John C;
Hočevar, Marko;
Lee, Jeffrey E;
Fang, Shenying;
Pharoah, Paul D P;
Radford-Smith, Graham L;
Schadendorf, Dirk;
Kypreou, Katerina P;
Stratigos, Alexander J;
Bishop, D Timothy;
Barrett, Jennifer H;
Bishop, Julia A Newton;
Mann, Graham J;
Montgomery, Grant W;
Craig, Jamie E;
Martin, Nicholas G

Publication type:

Article

Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma.

Published in:

Nature Genetics, 2014, v. 46, n. 10, p. 1120, doi. 10.1038/ng.3079

By:

Gharahkhani, Puya;
MacGregor, Stuart;
Hauser, Michael A;
Viswanathan, Ananth C;
Foster, Paul J;
McGuffin, Peter;
Topouzis, Fotis;
Graham, Stuart L;
Casson, Robert J;
Chehade, Mark;
White, Andrew J;
Healey, Paul R;
Wang, Jie Jin;
Mitchell, Paul;
Klebe, Sonja;
Goldberg, Ivan;
Radford-Smith, Graham;
Burdon, Kathryn P;
Mackey, David A;
Craig, Jamie E

Publication type:

Article

The reliability of single-field fundus photography in screening for diabetic retinopathy: the Central Australian Ocular Health Study.

Published in:

2013

By:

Ku JJ;
Landers J;
Henderson T;
Craig JE;
Ku, Janice J-Y;
Landers, John;
Henderson, Tim;
Craig, Jamie E

Publication type:

journal article

The reliability of single-field fundus photography in screening for diabetic retinopathy: the Central Australian Ocular Health Study.

Published in:

Medical Journal of Australia, 2013, v. 198, n. 2, p. 93, doi. 10.5694/mja12.10607

By:

J-Y Ku, Janice;
Landers, John;
Craig, Jamie E.;
Handerson, Tim

Publication type:

Article

Multi-trait genome-wide association study identifies new loci associated with optic disc parameters.

Published in:

Communications Biology, 2019, v. 2, n. 1, p. N.PAG, doi. 10.1038/s42003-019-0634-9

By:

Bonnemaijer, Pieter W. M.;
Leeuwen, Elisabeth M. van;
Iglesias, Adriana I.;
Gharahkhani, Puya;
Vitart, Veronique;
Khawaja, Anthony P.;
Simcoe, Mark;
Höhn, René;
Cree, Angela J.;
Igo, Rob P.;
International Glaucoma Genetics Consortium;
Burdon, Kathryn P.;
Craig, Jamie E.;
Hewitt, Alex W.;
Jonas, Jost;
Khor, Chiea-Cheun;
Pasutto, Francesca;
Mackey, David A.;
Mitchell, Paul;
Mishra, Aniket

Publication type:

Article

Genetic Dissection of Acute Anterior Uveitis Reveals Similarities and Differences in Associations Observed With Ankylosing Spondylitis.

Published in:

Arthritis & Rheumatology, 2015, v. 67, n. 1, p. 140, doi. 10.1002/art.38873

By:

Robinson, Philip C.;
Claushuis, Theodora A. M.;
Cortes, Adrian;
Martin, Tammy M.;
Evans, David M.;
Leo, Paul;
Mukhopadhyay, Pamela;
Bradbury, Linda A.;
Cremin, Katie;
Harris, Jessica;
Maksymowych, Walter P.;
Inman, Robert D.;
Rahman, Proton;
Haroon, Nigil;
Gensler, Lianne;
Powell, Joseph E.;
Horst‐Bruinsma, Irene E.;
Hewitt, Alex W.;
Craig, Jamie E.;
Lim, Lyndell L.

Publication type:

Article

Single Dose of Pseudoephedrine Induces Simultaneous Bilateral Acute Angle Closure Crisis.

Published in:

Case Reports in Ophthalmology, 2019, v. 10, n. 3, p. 365, doi. 10.1159/000503854

By:

Spencer, Benjamin G.;
Baskin, Jonathan;
Giarola, Blake F.;
Craig, Jamie E.

Publication type:

Article

Ocular Expression and Distribution of Products of the POAG-Associated Chromosome 9p21 Gene Region.

Published in:

PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0075067

By:

Chidlow, Glyn;
Wood, John P. M.;
Sharma, Shiwani;
Dimasi, David P.;
Burdon, Kathryn P.;
Casson, Robert J.;
Craig, Jamie E.

Publication type:

Article

Mutations in the <i>EPHA2</i> Gene Are a Major Contributor to Inherited Cataracts in South-Eastern Australia.

Published in:

PLoS ONE, 2013, v. 8, n. 8, p. 1, doi. 10.1371/journal.pone.0072518

By:

Dave, Alpana;
Laurie, Kate;
Staffieri, Sandra E.;
Taranath, Deepa;
Mackey, David A.;
Mitchell, Paul;
Wang, Jie Jin;
Craig, Jamie E.;
Burdon, Kathryn P.;
Sharma, Shiwani

Publication type:

Article

Association of Genetic Variants with Primary Angle Closure Glaucoma in Two Different Populations.

Published in:

PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0067903

By:

Awadalla, Mona S.;
Thapa, Suman S.;
Hewitt, Alex W.;
Burdon, Kathryn P.;
Craig, Jamie E.

Publication type:

Article

The p53 Codon 72 PRO/PRO Genotype May Be Associated with Initial Central Visual Field Defects in Caucasians with Primary Open Angle Glaucoma.

Published in:

PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0045613

By:

Wiggs, Janey L.;
Hewitt, Alex W.;
Bao Jian Fan;
Dan Yi Wang;
Sena, Dayse R. Figueiredo;
O'Brien, Colm;
Realini, Anthony;
Craig, Jamie E.;
Dimasi, David P.;
Mackey, David A.;
Haines, Jonathan L.;
Pasquale, Louis R.;
Den Hollander, Anneke I.

Publication type:

Article

Ethnic and Mouse Strain Differences in Central Corneal Thickness and Association with Pigmentation Phenotype.

Published in:

PLoS ONE, 2011, v. 6, n. 8, p. 1, doi. 10.1371/journal.pone.0022103

By:

Dimasi, David P.;
Hewitt, Alex W.;
Kagame, Kenneth;
Ruvama, Sam;
Tindyebwa, Ludovica;
Llamas, Bastien;
Kirk, Kirsty A.;
Mitchell, Paul;
Burdon, Kathryn P.;
Craig, Jamie E.

Publication type:

Article

Sequence Variation in DDAH1 and DDAH2 Genes Is Strongly and Additively Associated with Serum ADMA Concentrations in Individuals with Type 2 Diabetes.

Published in:

PLoS ONE, 2010, v. 5, n. 3, p. 1, doi. 10.1371/journal.pone.0009462

By:

Abhary, Sotoodeh;
Burdon, Kathryn P.;
Kuot, Abraham;
Javadiyan, Shahrbanou;
Whiting, Malcolm J.;
Kasmeridis, Nicholas;
Petrovsky, Nikolai;
Craig, Jamie E.

Publication type:

Article

Promoter polymorphism at the tumour necrosis factor/lymphotoxin-alpha locus is associated with type of diabetes but not with susceptibility to sight-threatening diabetic retinopathy.

Published in:

Diabetes & Vascular Disease Research, 2016, v. 13, n. 2, p. 164, doi. 10.1177/1479164115616902

By:

Kaidonis, Georgia;
Craig, Jamie E.;
Gillies, Mark C.;
Abhary, Sotoodeh;
Essex, Rohan W.;
Chang, John H.;
Pal, Bishwanath;
Pefkianaki, Maria;
Daniell, Mark;
Lake, Stewart;
Petrovsky, Nikolai;
Burdon, Kathryn P.

Publication type:

Article

Neuroimaging Findings in Axenfeld-Rieger Syndrome: A Case Series.

Published in:

American Journal of Neuroradiology, 2023, v. 44, n. 10, p. 1231, doi. 10.3174/ajnr.A7995

By:

White, Samuel;
Taranath, Ajay;
Hanagandi, Prasad;
Taranath, Deepa A.;
Minh-Son To;
Souzeau, Emmanuelle;
Siggs, Owen M.;
Craig, Jamie E.

Publication type:

Article

Bilateral simultaneous acute angle closure glaucoma precipitated by non-prescription cold and flu medication.

Published in:

2010

By:

Rudkin, Adam K;
Gray, Tim L;
Awadalla, Mona;
Craig, Jamie E

Publication type:

Case Study

Porous Silicon Films Micropatterned with Bioelements as Supports for Mammalian Cells.

Published in:

Advanced Functional Materials, 2012, v. 22, n. 6, p. 1158, doi. 10.1002/adfm.201102000

By:

Sweetman, Martin J.;
Ronci, Maurizio;
Ghaemi, Soraya Rasi;
Craig, Jamie E.;
Voelcker, Nicolas H.

Publication type:

Article

Phenotypic consequences of a nanophthalmos-associated TMEM98 variant in human and mouse.

Published in:

Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-37855-x

By:

Hassall, Mark M.;
Javadiyan, Shari;
Klebe, Sonja;
Awadalla, Mona S.;
Sharma, Shiwani;
Qassim, Ayub;
White, Melissa;
Thomas, Paul Q.;
Craig, Jamie E.;
Siggs, Owen M.

Publication type:

Article

Serum selenium status in Graves' disease with and without orbitopathy: a case-control study.

Published in:

Clinical Endocrinology, 2014, v. 80, n. 6, p. 905, doi. 10.1111/cen.12392

By:

Khong, Jwu Jin;
Goldstein, Rebecca F.;
Sanders, Kerrie M.;
Schneider, Hans;
Pope, Jeffrey;
Burdon, Kathryn P.;
Craig, Jamie E.;
Ebeling, Peter R.

Publication type:

Article

Bilateral phototherapeutic keratectomy for corneal macular dystrophy in an adolescent: case report and review of the literature.

Published in:

Ophthalmic Genetics, 2020, v. 41, n. 4, p. 368, doi. 10.1080/13816810.2020.1776335

By:

Shields, Melissa;
Craig, Jamie E.;
Souzeau, Emmanuelle;
Gupta, Aanchal

Publication type:

Article

Loss of ciliary zonule protein hydroxylation and lens stability as a predicted consequence of biallelic ASPH variation.

Published in:

Ophthalmic Genetics, 2019, v. 40, n. 1, p. 12, doi. 10.1080/13816810.2018.1561904

By:

Siggs, Owen M;
Souzeau, Emmanuelle;
Craig, Jamie E

Publication type:

Article

DNA methylation at the 9p21 glaucoma susceptibility locus is associated with normal-tension glaucoma.

Published in:

Ophthalmic Genetics, 2018, v. 39, n. 2, p. 221, doi. 10.1080/13816810.2017.1413659

By:

Burdon, Kathryn P.;
Awadalla, Mona S.;
Mitchell, Paul;
Wang, Jie Jin;
White, Andrew;
Keane, Miriam C.;
Souzeau, Emmanuelle;
Graham, Stuart L.;
Goldberg, Ivan;
Healey, Paul R.;
Landers, John;
Mills, Richard A. D.;
Best, Stephen;
Hewitt, Alex W.;
Sharma, Shiwani;
Craig, Jamie E.

Publication type:

Article

Ferritin light chain gene mutation in a large Australian family with hereditary hyperferritinemia-cataract syndrome.

Published in:

Ophthalmic Genetics, 2017, v. 38, n. 2, p. 171, doi. 10.3109/13816810.2016.1164195

By:

Yazar, Seyhan;
Franchina, Maria;
Craig, Jamie E.;
Burdon, Kathryn P.;
Mackey, David A.

Publication type:

Article

No Maternally Inherited Diabetes and Deafness Mutations in a Sample of 193 Tasmanian Diabetics with Glaucoma.

Published in:

Ophthalmic Genetics, 2007, v. 28, n. 1, p. 39, doi. 10.1080/13816810701201971

By:

Andrew Symons, R. C.;
Turakulov, Rustamzhon;
Foote, Simon J.;
Craig, Jamie E.;
McCartney, Paul J.;
Mackey, David A.

Publication type:

Article

Familial Transmission Risk of Infantile Glaucoma in Australia.

Published in:

Ophthalmic Genetics, 2006, v. 27, n. 3, p. 93, doi. 10.1080/13816810600870843

By:

Hewitt, Alex W.;
MacKinnon, Jane R.;
Giubilato, Antonio;
Elder, James E.;
Craig, Jamie E.;
Mackey, David A.

Publication type:

Article

Chromosomal Abnormalities and Glaucoma: A Case of Congenital Glaucoma with Trisomy 8q22-Qter/ Monosomy 9p23-Pter.

Published in:

Ophthalmic Genetics, 2005, v. 26, n. 1, p. 45, doi. 10.1080/13816810590918398

By:

Cohn, Amy C.;
Kearns, Lisa S.;
Savarirayan, Ravi;
Ryan, Jacinta;
Craig, Jamie E.;
Mackey, David A.

Publication type:

Article

Investigation of the prevalence of the myocilin Q368STOP mutation inUgandan glaucoma patients.

Published in:

Ophthalmic Genetics, 2002, v. 23, n. 1, p. 067, doi. 10.1076/opge.23.1.67.2204

By:

Sale, Michèle M.;
FitzGerald, Liesel M.;
Kagame, Kenneth;
Erdmann, Irmela;
Craig, Jamie E.;
Dickinson, Joanne L.;
Cooper, Richard L.

Publication type:

Article

High throughput functional profiling of genes at intraocular pressure loci reveals distinct networks for glaucoma.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 9, p. 739, doi. 10.1093/hmg/ddae003

By:

Greatbatch, Connor J;
Lu, Qinyi;
Hung, Sandy;
Barnett, Alexander J;
Wing, Kristof;
Liang, Helena;
Han, Xikun;
Zhou, Tiger;
Siggs, Owen M;
Mackey, David A;
Cook, Anthony L;
Senabouth, Anne;
Liu, Guei-Sheung;
Craig, Jamie E;
MacGregor, Stuart;
Powell, Joseph E;
Hewitt, Alex W

Publication type:

Article

Genome-wide association analysis of 95 549 individuals identifies novel loci and genes influencing optic disc morphology.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 21, p. 3680, doi. 10.1093/hmg/ddz193

By:

Han, Xikun;
Qassim, Ayub;
An, Jiyuan;
Marshall, Henry;
Zhou, Tiger;
Ong, Jue-Sheng;
Hassall, Mark M;
Hysi, Pirro G;
Foster, Paul J;
Khaw, Peng T;
Mackey, David A;
Gharahkhani, Puya;
Khawaja, Anthony P;
Hewitt, Alex W;
Craig, Jamie E;
MacGregor, Stuart

Publication type:

Article

Non-Synonymous variants in premelanosome protein (PMEL) cause ocular pigment dispersion and pigmentary glaucoma.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 8, p. 1298, doi. 10.1093/hmg/ddy429

By:

Lahola-Chomiak, Adrian A;
Footz, Tim;
Nguyen-Phuoc, Kim;
Neil, Gavin J;
Fan, Baojian;
Allen, Keri F;
Greenfield, David S;
Parrish, Richard K;
Linkroum, Kevin;
Pasquale, Louis R;
Leonhardt, Ralf M;
Ritch, Robert;
Javadiyan, Shari;
Craig, Jamie E;
Allison, W T;
Lehmann, Ordan J;
Walter, Michael A;
Wiggs, Janey L

Publication type:

Article

WNT10A exonic variant increases the risk of keratoconus by decreasing corneal thickness.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 17, p. 5060, doi. 10.1093/hmg/ddv211

By:

Cuellar-Partida, Gabriel;
Springelkamp, Henriët;
Lucas, Sionne E. M.;
Yazar, Seyhan;
Hewitt, Alex W.;
Iglesias, Adriana I.;
Montgomery, Grant W.;
Martin, Nicholas G.;
Pennell, Craig E.;
van Leeuwen, Elisabeth M.;
Verhoeven, Virginie J. M.;
Hofman, Albert;
Uitterlinden, André G.;
Ramdas, Wishal D.;
Wolfs, Roger. C. W.;
Vingerling, Johannes R.;
Brown, Matthew A.;
Mills, Richard A.;
Craig, Jamie E.;
Klaver, Caroline C. W.

Publication type:

Article

The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort.

Published in:

Clinical Genetics, 2020, v. 97, n. 5, p. 764, doi. 10.1111/cge.13722

By:

Siggs, Owen M.;
Awadalla, Mona S.;
Souzeau, Emmanuelle;
Staffieri, Sandra E.;
Kearns, Lisa S.;
Laurie, Kate;
Kuot, Abraham;
Qassim, Ayub;
Edwards, Thomas L.;
Coote, Michael A.;
Mancel, Erica;
Walland, Mark J.;
Dondey, Joanne;
Galanopoulous, Anna;
Casson, Robert J.;
Mills, Richard A.;
MacArthur, Daniel G.;
Ruddle, Jonathan B.;
Burdon, Kathryn P.;
Craig, Jamie E.

Publication type:

Article

Gene‐specific facial dysmorphism in Axenfeld‐Rieger syndrome caused by FOXC1 and PITX2 variants.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 434, doi. 10.1002/ajmg.a.61982

By:

Souzeau, Emmanuelle;
Siggs, Owen M.;
Pasutto, Francesca;
Knight, Lachlan S. W.;
Perez‐Jurado, Luis A.;
McGregor, Lesley;
Le Blanc, Shannon;
Barnett, Christopher P.;
Liebelt, Jan;
Craig, Jamie E.

Publication type:

Article

Exome-based investigation of the genetic basis of human pigmentary glaucoma.

Published in:

BMC Genomics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s12864-021-07782-0

By:

van der Heide, Carly;
Goar, Wes;
Meyer, Kacie J.;
Alward, Wallace L. M.;
Boese, Erin A.;
Sears, Nathan C.;
Roos, Ben R.;
Kwon, Young H.;
DeLuca, Adam P.;
Siggs, Owen M.;
Gonzaga-Jauregui, Claudia;
Sheffield, Val C.;
Wang, Kai;
Stone, Edwin M.;
Mullins, Robert F.;
Anderson, Michael G.;
Fan, Bao Jian;
Ritch, Robert;
Craig, Jamie E.;
Wiggs, Janey L.

Publication type:

Article

The phenotypic spectrum of ADAMTSL4-associated ectopia lentis: Additional cases, complications, and review of literature.

Published in:

Molecular Vision, 2022, v. 28, p. 257

By:

Knight, Lachlan S. W.;
Mullany, Sean;
Taranath, Deepa A.;
Ruddle, Jonathan B.;
Barnett, Christopher P.;
Sallevelt, Suzanne C. E. H.;
Berry, Ella C.;
Marshall, Henry N.;
Hollitt, Georgina L.;
Souzeau, Emmanuelle;
Craig, Jamie E.;
Siggs, Owen M.

Publication type:

Article

Autosomal dominant nanophthalmos and high hyperopia associated with a C-terminal frameshift variant in MYRF.

Published in:

Molecular Vision, 2019, v. 25, p. 527

By:

Siggs, Owen M.;
Souzeau, Emmanuelle;
Breen, James;
Qassim, Ayub;
Zhou, Tiger;
Dubowsky, Andrew;
Ruddle, Jonathan B.;
Craig, Jamie E.

Publication type:

Article