South Western Sydney Clinical School

Ewans LJ; Schofield D; Shrestha R; Zhu Y; Gayevskiy V; Ying K; Walsh C; Lee E; Kirk EP; Colley A, 2018, 'Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders', Genetics in Medicine, vol. 20, pp. 1564 - 1574, http://dx.doi.org/10.1038/gim.2018.39

Dagar V; Hutchison W; Muscat A; Krishnan A; Hoke D; Buckle A; Siswara P; Amor DJ; Mann J; Pinner J, 2018, 'Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome', Clinical Epigenetics, vol. 10, http://dx.doi.org/10.1186/s13148-018-0546-4

Bagnall RD; Ingles J; Dinger ME; Cowley MJ; Ross SB; Minoche AE; Lal S; Turner C; Colley A; Rajagopalan S, 2018, 'Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy', Journal of the American College of Cardiology, vol. 72, pp. 419 - 429, http://dx.doi.org/10.1016/j.jacc.2018.04.078

Leblanc S; David D; Colley A; Buckley M; Roscioli T; Barnett C, 2018, 'Atypical skin manifestations in FGFR2-related craniosynostosis syndromes broaden the phenotypic spectrum', Molecular Syndromology, vol. 9, pp. 149 - 153, http://dx.doi.org/10.1159/000488439

Hardy TA; Young S; Sy JS; Colley AF; Terwindt GM; Ferrari MD; Hayes MW; Hodgkinson S, 2018, 'Tumefactive lesions in retinal vasculopathy with cerebral leucoencephalopathy and systemic manifestations (RVCLS): A role for neuroinflammation?', Journal of Neurology, Neurosurgery and Psychiatry, vol. 89, http://dx.doi.org/10.1136/jnnp-2017-316142

Shi H; Enriquez A; Rapadas M; Martin EMMA; Wang R; Moreau J; Lim CK; Szot JO; Ip E; Hughes JN, 2017, 'NAD deficiency, congenital malformations, and niacin supplementation', New England Journal of Medicine, vol. 377, pp. 544 - 552, http://dx.doi.org/10.1056/NEJMoa1616361

Murray N; Burgess B; Hay R; Colley A; Rajagopalan S; McGaughran J; Patel C; Enriquez A; Goodwin L; Stark Z, 2017, 'KBG syndrome: An Australian experience', American Journal of Medical Genetics, Part A, vol. 173, pp. 1866 - 1877, http://dx.doi.org/10.1002/ajmg.a.38121

Le Fevre A; Beygo J; Silveira C; Kamien B; Clayton-Smith J; Colley A; Buiting K; Dudding-Byth T, 2017, 'Atypical Angelman syndrome due to a mosaic imprinting defect: Case reports and review of the literature.', Am J Med Genet A, vol. 173, pp. 753 - 757, http://dx.doi.org/10.1002/ajmg.a.38072

Pelttari LM; Khan S; Vuorela M; Kiiski JI; Vilske S; Nevanlinna V; Ranta S; Schleutker J; Winqvist R; Kallioniemi A, 2016, 'RAD51B in familial breast cancer', PLoS ONE, vol. 11, http://dx.doi.org/10.1371/journal.pone.0153788

Chaoui A; Kavo A; Baral V; Watanabe Y; Lecerf L; Colley A; Mendoza-Londono R; Pingault V; Bondurand N, 2015, 'Subnuclear re-localization of SOX10 and p54NRB correlates with a unique neurological phenotype associated with SOX10 missense mutations', Human Molecular Genetics, vol. 24, pp. 4933 - 4947, http://dx.doi.org/10.1093/hmg/ddv215

Todd EJ; Yau KS; Ong R; Slee J; McGillivray G; Barnett CP; Haliloglu G; Talim B; Akcoren Z; Kariminejad A, 2015, 'Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth', Orphanet Journal of Rare Diseases, vol. 10, http://dx.doi.org/10.1186/s13023-015-0364-0

Sobral-Leite M; Wesseling J; Smit VTHBM; Nevanlinna H; van Miltenburg MH; Sanders J; Hofland I; Blows FM; Coulson P; Patrycja G, 2015, 'Annexin A1 expression in a pooled breast cancer series: Association with tumor subtypes and prognosis', BMC Medicine, vol. 13, http://dx.doi.org/10.1186/s12916-015-0392-6

Dallabona C; Diodato D; Kevelam SH; Haack TB; Wong LJ; Salomons GS; Baruffini E; Melchionda L; Mariotti C; Strom TM, 2014, 'Novel (ovario) leukodystrophy related to AARS2 mutations', Neurology, vol. 82, pp. 2063 - 2071, http://dx.doi.org/10.1212/WNL.0000000000000497

Muhn F; Klopocki E; Graul-Neumann L; Uhrig S; Colley A; Castori M; Lankes E; Henn W; Gruber-Sedlmayr U; Seifert W, 2013, 'Novel mutations of the PRKAR1A gene in patients with acrodysostosis', Clinical Genetics, vol. 84, pp. 531 - 538, http://dx.doi.org/10.1111/cge.12106

Goldlust IS; Hermetz KE; Catalano LM; Barfield RT; Cozad R; Wynn G; Ozdemir AC; Conneely KN; Mulle JG; Dharamrup S, 2013, 'Mouse model implicates GNB3 duplication in a childhood obesity syndrome.', Proc Natl Acad Sci U S A, vol. 110, pp. 14990 - 14994, http://dx.doi.org/10.1073/pnas.1305999110

Cox TC; Moon DJ; Mowat D; Kirk EP; Sachdev R; Venselaar H; Turner AM; Le T; Hackett E; Haan E, 2013, 'Genotype and clinical care correlations in craniosynostosis: Findings from a cohort of 630 Australian and New Zealand patients', American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, http://dx.doi.org/10.1002/ajmg.c.31378

Hadfield KD; Newman WG; Bowers NL; Wallace A; Bolger C; Colley A; McCann E; Trump D; Prescott T; Evans DGR, 2008, 'Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis', Journal of Medical Genetics, vol. 45, pp. 332 - 339, http://dx.doi.org/10.1136/jmg.2007.056499

Hadfield KD; Newman WG; Bowers NL; Wallace A; Bolger C; Colley A; McCann E; Trump D; Prescott T; Evans DGR, 2008, 'Erratum: Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis (Journal of Medical Genetics (2008) vol. 45 (332-339))', Journal of Medical Genetics, vol. 45, pp. 608, http://dx.doi.org/10.1136/jmg.2008.056499corr1

Douglas J; Cilliers D; Coleman K; Tatton-Brown K; Barker K; Bernhard B; Burn J; Huson S; Josifova D; Lacombe D, 2007, 'Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth', Nature Genetics, vol. 39, pp. 963 - 965, http://dx.doi.org/10.1038/ng2083

Featherstone C; Colley A; Tucker K; Kirk J; Barton MB, 2007, 'Estimating the referral rate for cancer genetic assessment from a systematic review of the evidence', British Journal of Cancer, vol. 96, pp. 391 - 398, http://dx.doi.org/10.1038/sj.bjc.6603432

Easton DF; Pooley KA; Dunning AM; Pharoah PDP; Thompson D; Ballinger DG; Struewing JP; Morrison J; Field H; Luben R, 2007, 'Genome-wide association study identifies novel breast cancer susceptibility loci', Nature, vol. 447, pp. 1087 - 1093, http://dx.doi.org/10.1038/nature05887

Trent RJ; Webster B; Bowden DK; Gilbert A; Ho PJ; Lindeman R; Lammi A; Rowell J; Hinchcliffe M; Colley A, 2006, 'Complex phenotypes in the haemoglobinopathies: Recommendations on screening and DNA testing', Pathology, vol. 38, pp. 507 - 519, http://dx.doi.org/10.1080/00313020601027634

Maclean K; Field MJ; Colley AS; Mowat DR; Sparrow DB; Dunwoodie SL; Kirk EPE, 2004, 'Kousseff Syndrome: A Causally Heterogeneous Disorder', American Journal of Medical Genetics, vol. 124 A, pp. 307 - 312

James C; Worthington S; Colley A, 2003, 'The genetic counseling workplace - An Australasian perspective: A national study of workplace issues for genetic counselors and associate genetic counselors', Journal of Genetic Counseling, vol. 12, pp. 439 - 456, http://dx.doi.org/10.1023/A:1025868804314

Davis MR; Haan E; Jungbluth H; Sewry C; North K; Muntoni F; Kuntzer T; Lamont P; Bankier A; Tomlinson P, 2003, 'Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene', Neuromuscular Disorders, vol. 13, pp. 151 - 157, http://dx.doi.org/10.1016/S0960-8966(02)00218-3

Szudek J; Birch P; Friedman JM; Burke W; Bennett R; de Campos JM; Korf B; Krause W; Uhas K; Niimura M, 2000, 'Growth in North American white children with neurofibromatosis 1 (NF1)', Journal of Medical Genetics, vol. 37, pp. 933 - 938

Meiser B; Butow P; Barratt A; Suthers G; Smith M; Colley A; Thompson E; Tucker K, 2000, 'Attitudes to genetic testing for breast cancer susceptibility in women at increased risk of developing hereditary breast cancer', Journal of Medical Genetics, vol. 37, pp. 472 - 476

Gedeon AK; Colley A; Jamieson R; Thompson EM; Rogers J; Sillence D; Tiller GE; Mulley JC; Gécz J, 1999, 'Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda', Nature Genetics, vol. 22, pp. 400 - 404, http://dx.doi.org/10.1038/11976

McQuade L; Christodoulou J; Budarf M; Sachdev R; Wilson M; Emanuel B; Colley A, 1999, 'Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR)', American Journal of Medical Genetics, vol. 86, pp. 27 - 33, http://dx.doi.org/10.1002/(SICI)1096-8628(19990903)86:1<27::AID-AJMG6>3.0.CO;2-7

Mulley J; Saar K; Hewitt G; Rüschendorf F; Phillips H; Colley A; Sillence D; Reis A; Wilson M, 1998, 'Gene localization for an autosomal dominant familial periodic fever to 12p13', American Journal of Human Genetics, vol. 62, pp. 884 - 889, http://dx.doi.org/10.1086/301793

Worthington S; Colley A; Fagan K; Dai K; Lipson AH, 1997, 'Anal anomalies: An uncommon feature of velocardiofacial (Shprintzen) syndrome?', Journal of Medical Genetics, vol. 34, pp. 79 - 82

Colley A; Donnai D; Evans DGR, 1996, 'Neurofibromatosis/Noonan phenotype: A variable feature of type 1 neurofibromatosis', Clinical Genetics, vol. 49, pp. 59 - 64

Lipson A; Fagan K; Colley A; Colley P; Sholler G; Issacs D; Oates RK, 1996, 'Velo-cardio-facial and partial DiGeorge phenotype in a child with interstitial deletion at 10p13-implications for cytogenetics and molecular biology', American Journal of Medical Genetics, vol. 65, pp. 304 - 308, http://dx.doi.org/10.1002/(SICI)1096-8628(19961111)65:4<304::AID-AJMG11>3.0.CO;2-Y

Donnelly A; Colley A; Crimmins D; Mulley J, 1996, 'A novel mutation in exon 6 (F236S) of the proteolipid protein gene is associated with spastic paraplegia', Human Mutation, vol. 8, pp. 384 - 385, http://dx.doi.org/10.1002/(SICI)1098-1004(1996)8:4<384::AID-HUMU17>3.0.CO;2-Z

Smith A; Wiles C; Haan E; McGill J; Wallace G; Dixon J; Selby R; Colley A; Marks R; Trent RJ, 1996, 'Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion', Journal of Medical Genetics, vol. 33, pp. 107 - 112

Gedeon AK; Wilson MJ; Colley AC; Sillence DO; Mulley JC, 1995, 'X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome', Journal of Medical Genetics, vol. 32, pp. 383 - 388

Fagan K; Kennedy C; Roddick L; Colley A, 1994, 'An interstitial deletion of chromosome 7 (q35)', Journal of Medical Genetics, vol. 31, pp. 738 - 739

Benjamin CM; Colley A; Donnai D; Kingston H; Harris R; Kerzin-Storrar L, 1993, 'Neurofibromatosis type 1 (NF1): Knowledge, experience, and reproductive decisions of affected patients and families', Journal of Medical Genetics, vol. 30, pp. 567 - 574

Tassabehji M; Strachan T; Sharland M; Colley A; Donnai D; Harris R; Thakker N, 1993, 'Tandem duplication within a neurofibromatosis type I (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome', American Journal of Human Genetics, vol. 53, pp. 90 - 95

Lloyd IC; Colley A; Tullo AB; Bonshek R, 1993, 'Dominantly inherited unilateral retinal dysplasia', British Journal of Ophthalmology, vol. 77, pp. 378 - 380, http://dx.doi.org/10.1136/bjo.77.6.378

Colley A; Thakker Y; Ward H; Donnai D, 1992, 'Unbalanced 13;18 translocation and Williams syndrome', Journal of Medical Genetics, vol. 29, pp. 63 - 65

McKinley M; Colley A; Sinclair P; Donnai D; Andrews T, 1991, 'De novo ring chromosome 3: A new case with a mild phenotype', Journal of Medical Genetics, vol. 28, pp. 536 - 538

Colley A; Lloyd IC; Ridgway A; Donnai D, 1991, 'Ectopia lentis et pupillae: The genetic aspects and differential diagnosis', Journal of Medical Genetics, vol. 28, pp. 791 - 794, http://dx.doi.org/10.1136/jmg.28.11.791

Dixon MJ; Read AP; Donnai D; Colley A; Dixon J; Williamson R, 1991, 'The gene for Treacher Collins syndrome maps to the long arm of chromosome 5', American Journal of Human Genetics, vol. 49, pp. 17 - 22