South Western Sydney Clinical School

Kirk EP; Barlow-Stewart K; Selvanathan A; Josephi-Taylor S; Worgan L; Rajagopalan S; Cowley MJ; Gayevskiy V; Bittles A; Burnett L; Elakis G; Lo W; Buckley M; Colley A; Roscioli T, 2019, 'Beyond the panel: preconception screening in consanguineous couples using the TruSight One “clinical exome”', Genetics in Medicine, vol. 21, pp. 608 - 612, http://dx.doi.org/10.1038/s41436-018-0082-9

Duma SR; Fois AF; Morales-Briceño H; Fong MWK; Colebatch JG; Colley A; McMaster J; Mahant N, 2019, 'Deep Brain Stimulation as Management of Generalized Dystonia in the 18p Deletion Syndrome', Movement Disorders Clinical Practice, vol. 6, pp. 263 - 264, http://dx.doi.org/10.1002/mdc3.12729

Josephi-Taylor S; Barlow-Stewart K; Selvanathan A; Roscioli T; Bittles A; Meiser B; Worgan L; Rajagopalan S; Colley A; Kirk EP, 2019, 'User Acceptability of Whole Exome Reproductive Carrier Testing for Consanguineous Couples in Australia.', J Genet Couns, vol. 28, pp. 240 - 250, http://dx.doi.org/10.1007/s10897-018-0298-5

Ewans LJ; Schofield D; Shrestha R; Zhu Y; Gayevskiy V; Ying K; Walsh C; Lee E; Kirk EP; Colley A; Ellaway C; Turner A; Mowat D; Worgan L; Freckmann ML; Lipke M; Sachdev R; Miller D; Field M; Dinger ME; Buckley MF; Cowley MJ; Roscioli T, 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; Colley A; Wilson M; Sachdev R; McGillivray G; Edwards M; Kirk E; Collins F; Jones K; Taylor J; Hayes I; Thompson E; Barnett C; Haan E; Freckmann ML; Turner A; White S; Kamien B; Ma A; Mackenzie F; Baynam G; Kiraly-Borri C; Field M; Dudding-Byth T; Algar EM, 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; Berman Y; Ronan A; Fatkin D; Semsarian C, 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; Sugimoto K; Humphreys DT; McInerney-Leo AM; Leo PJ; Maghzal GJ; Halliday J; Smith J; Colley A; Mark PR; Collins F; Sillence DO; Winlaw DS; Ho JWK; Guillemin GJ; Brown MA; Kikuchi K; Thomas PQ; Stocker R; Giannoulatou E; Chapman G; Duncan EL; Sparrow DB; Dunwoodie SL, 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; Tan T; Wilson M; Roscioli T; Tekin M; Goel H, 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', American Journal of Medical Genetics, Part 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; Dörk T; Bogdanova NV; Figueroa J; Pharoah PDP; Schmidt MK; Dunning AM; García-Closas M; Bolla MK; Dennis J; Michailidou K; Wang Q; Hopper JL; Southey MC; Rosenberg EH; Fasching PA; Beckmann MW; Peto J; Dos-Santos-silva I; Sawyer EJ; Tomlinson I; Burwinkel B; Surowy H; Guénel P; Truong T; Bojesen SE; Nordestgaard BG; Benitez J; González-Neira A; Neuhausen SL; Anton-Culver H; Brenner H; Arndt V; Meindl A; Schmutzler RK; Brauch H; Brüning T; Lindblom A; Margolin S; Mannermaa A; Hartikainen JM; Chenevix-Trench G; Van Dyck L; Janssen H; Chang-Claude J; Rudolph A; Radice P; Peterlongo P; Hallberg E; Olson JE; Giles GG; Milne RL; Haiman CA; Schumacher F; Simard J; Dumont M; Kristensen V; Borresen-Dale AL; Zheng W; Beeghly-Fadiel A; Grip M; Andrulis IL; Glendon G; Devilee P; Seynaeve C; Hooning MJ; Collée M; Cox A; Cross SS; Shah M; Luben RN; Hamann U; Torres D; Jakubowska A; Lubinski J; Couch FJ; Yannoukakos D; Orr N; Swerdlow A; Darabi H; Li J; Czene K; Hall P; Easton DF; Mattson J; Blomqvist C; Aittomäki K; Nevanlinna H; Aghmesheh M; Amor D; Andrews L, 2016, 'RAD51B in familial breast cancer', PLoS ONE, vol. 11, http://dx.doi.org/10.1371/journal.pone.0153788

Todd EJ; Yau KS; Ong R; Slee J; McGillivray G; Barnett CP; Haliloglu G; Talim B; Akcoren Z; Kariminejad A; Cairns A; Clarke NF; Freckmann ML; Romero NB; Williams D; Sewry CA; Colley A; Ryan MM; Kiraly-Borri C; Sivadorai P; Allcock RJN; Beeson D; Maxwell S; Davis MR; Laing NG; Ravenscroft G, 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

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

Sobral-Leite M; Wesseling J; Smit VTHBM; Nevanlinna H; van Miltenburg MH; Sanders J; Hofland I; Blows FM; Coulson P; Patrycja G; Schellens JHM; Fagerholm R; Heikkilä P; Aittomäki K; Blomqvist C; Provenzano E; Ali HR; Figueroa J; Sherman M; Lissowska J; Mannermaa A; Kataja V; Kosma VM; Hartikainen JM; Phillips KA; Couch FJ; Olson JE; Vachon C; Visscher D; Brenner H; Butterbach K; Arndt V; Holleczek B; Hooning MJ; Hollestelle A; Martens JWM; van Deurzen CHM; van de Water B; Broeks A; Chang-Claude J; Chenevix-Trench G; Easton DF; Pharoah PDP; García-Closas M; de Graauw M; Schmidt MK; Aghmesheh M; Amor D; Andrews L; Antill Y; Armitage S; Arnold L; Balleine R; Bankier A; Bastick P; Beesley J; Beilby J; Bennett B; Bennett I; Berry G; Blackburn A; Bogwitz M; Brennan M; Brown M; Buckley M; Burgess M; Burke J; Butow P; Byron K; Callen D; Campbell I; Chauhan D; Chauhan M; Christian A; Clarke C; Colley A; Cotton D; Crook A; Cui J; Culling B; Cummings M; Dawson SJ; de Fazio A; Delatycki M; Dickson R; Dixon J; Dobrovic A; Dudding T; Edkins T; Edwards S; Eisenbruch M; Farshid G; Fawcett S; Fellows A; Fenton G; Field M; Firgaira F; Flanagan J; Fleming J; Fong P, 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; Meitinger T; Prokisch H; Chapman K; Colley A; Rocha H; Ounap K; Schiffmann R; Salsano E; Savoiardo M; Hamilton EM; Abbink TEM; Wolf NI; Ferrero I; Lamperti C; Zeviani M; Vanderver A; Ghezzi D; Van Der Knaap MS, 2014, 'Novel (ovario) leukodystrophy related to AARS2 mutations', Neurology, vol. 82, pp. 2063 - 2071, http://dx.doi.org/10.1212/WNL.0000000000000497

Roscioli T; Elakis G; Cox TC; Moon DJ; Venselaar H; Turner AM; Le T; Hackett E; Haan E; Colley A; Mowat D; Worgan L; Kirk EP; Sachdev R; Thompson E; Gabbett M; Mcgaughran J; Gibson K; Gattas M; Freckmann ML; Dixon J; Hoefsloot L; Field M; Hackett A; Kamien B; Edwards M; Adès LC; Collins FA; Wilson MJ; Savarirayan R; Tan TY; Amor DJ; Mcgillivray G; White SM; Glass IA; David DJ; Anderson PJ; Gianoutsos M; Buckley MF, 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, vol. 163, pp. 259 - 270, http://dx.doi.org/10.1002/ajmg.c.31378

Goldlust IS; Hermetz KE; Catalano LM; Barfield RT; Cozad R; Wynn G; Ozdemir AC; Conneely KN; Mulle JG; Dharamrup S; Hegde MR; Kim KH; Angle B; Colley A; Webb AE; Thorland EC; Ellison JW; Rosenfeld JA; Ballif BC; Shaffer LG; Demmer LA; Searle BA; Wynn SL; Rudd MK, 2013, 'Mouse model implicates GNB3 duplication in a childhood obesity syndrome', Proceedings of the National Academy of Sciences of the United States of America, vol. 110, pp. 14990 - 14994, http://dx.doi.org/10.1073/pnas.1305999110

Muhn F; Klopocki E; Graul-Neumann L; Uhrig S; Colley AF; Castori M; Lankes E; Henning W; Gruber-Sedlmayr U; Seifert W; Horn D, 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

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

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

Easton DF; Pooley KA; Dunning AM; Pharoah PDP; Thompson D; Ballinger DG; Struewing JP; Morrison J; Field H; Luben R; Wareham N; Ahmed S; Healey CS; Bowman R; Meyer KB; Haiman CA; Kolonel LK; Henderson BE; Le Marchand L; Brennan P; Sangrajrang S; Gaborieau V; Odefrey F; Shen CY; Wu PE; Wang HC; Eccles D; Evans DG; Peto J; Fletcher O; Johnson N; Seal S; Stratton MR; Rahman N; Chenevix-Trench G; Bojesen SE; Nordestgaard BG; Axelsson CK; Garcia-Closas M; Brinton L; Chanock S; Lissowska J; Peplonska B; Nevanlinna H; Fagerholm R; Eerola H; Kang D; Yoo KY; Noh DY; Ahn SH; Hunter DJ; Hankinson SE; Cox DG; Hall P; Wedren S; Liu J; Low YL; Bogdanova N; Schürmann P; Dörk T; Tollenaar RAEM; Jacobi CE; Devilee P; Klijn JGM; Sigurdson AJ; Doody MM; Alexander BH; Zhang J; Cox A; Brock IW; MacPherson G; Reed MWR; Couch FJ; Goode EL; Olson JE; Meijers-Heijboer H; Van Den Ouweland A; Uitterlinden A; Rivadeneira F; Milne RL; Ribas G; Gonzalez-Neira A; Benitez J; Hopper JL; McCredie M; Southey M; Giles G; Schroen C; Justenhoven C; Brauch H; Hamann U; Ko YD; Spurdle AB; Beesley J; Chen X; Mannermaa A; Kosma VM; Kataja V; Hartikainen J; Day NE, 2007, 'Genome-wide association study identifies novel breast cancer susceptibility loci', Nature, vol. 447, pp. 1087 - 1093, http://dx.doi.org/10.1038/nature05887

Douglas J; Cilliers D; Coleman K; Tatton-Brown K; Barker K; Bernhard B; Burn J; Huson S; Josifova D; Lacombe D; Malik M; Mansour S; Reid E; Cormier-Daire V; Cole T; Addor M; Al Swaid A; Amiel J; Andries S; Archer H; Barnicoat A; Barrow M; Barwell J; Baujat G; Becker K; Berg J; Bhat M; Bitner M; Blair E; Brady A; Brueton L; Cavani S; Cecconi ; Chandler K; Christensen C; Clarke A; Clayton-Smith J; Cole T; Colleaux L; Colley A; Collins A; Cormier-Daire V; Danda S; Davies S; Day R; Magali DR; Dennis N; Dobbie A; Edery P; Elmslie F; Faravelli F; Firth H; Fischetto R; Fitzpatrick D; Forzano F; Foulds N; Franklin J; Fryer A; Garcia S; Gardiner C; Garrett C; Gener B; Gibbons R; Gillerot Y; Gillessen-Kaesbach G; Goudie D; Grasso M; Henderson A; Hirst J; Hodgson S; Holder S; Homfrey T; Hughes H; Kerr B; Kumar A; Kumar D; Lam W; Le Merrer M; Leonard N; Liebelt J; Lunt P; Lynch S; Lyonnet S; Magee A; Malacarne M; Mansour S; McEntagart M; Majore S; McKee S; McKeown C; Meinecke P; Metcalfe K; Milani D; Mohammad S; Munnich A; Murray A; Nemeth A; Neri G; Odent S, 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 AF; Tucker K; Kirk J; Barton MB, 2007, 'Estimating the referral date 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

Trent RJ; Webster B; Bowden DK; Gilbert A; Ho PJ; Lindeman R; Lammi A; Rowell J; Hinchcliffe M; Colley A; Wilson M; Saleh M; Blackwell J; Petrou V, 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 M; Colley AF; Mowat DR; Sparrow DB; Dunwoodie SL; Kirk EP, 2004, 'Kousseff syndrome: A causally heterogeneous disorder', American Journal of Medical Genetics Part A, vol. 124A, 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; Sánchez A; Walsh P; Nagarajan L; Oley C; Colley A; Gedeon A; Quinlivan R; Dixon J; James D; Müller CR; Laing NG, 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

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, http://dx.doi.org/10.1136/jmg.37.6.472

Szudek J; Birch P; Friedman JM; Burke W; Bennett R; de Campos JM; Korf B; Krause W; Uhas K; Niimura M; Inaba Y; North K; Ortenberg J; der Kaloustian V; Poyhonen M; Rubenstein A; Short P; Bove K; Stine S; Nicholson L; Tenconi R; Zackai E; Carey J; Viskochil D; Bochkov N; Schorry E; Tinschert S; Kelly T; Klein J; Piynick E; Colley A; Schulke M; Signorini M; Wolkenstein P; Danek A, 2000, 'Growth in North American white children with neurofibromatosis 1 (NF1)', Journal of Medical Genetics, vol. 37, pp. 933 - 938, http://dx.doi.org/10.1136/jmg.37.12.933

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

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

Mulley JC; Saar K; Hewitt G; Ruschendorf F; Phillips HA; Colley AF; 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, http://dx.doi.org/10.1136/jmg.34.1.79

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

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

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, http://dx.doi.org/10.1136/jmg.33.2.107

Colley A; Donnai D; Evans DGR, 1996, 'Neurofibromatosis/Noonan phenotype: A variable feature of type 1 neurofibromatosis', Clinical Genetics, vol. 49, pp. 59 - 64, http://dx.doi.org/10.1111/j.1399-0004.1996.tb04328.x

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, http://dx.doi.org/10.1136/jmg.32.5.383

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, http://dx.doi.org/10.1136/jmg.31.9.738

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

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

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, http://dx.doi.org/10.1136/jmg.30.7.567

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, http://dx.doi.org/10.1136/jmg.29.1.63

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

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

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, http://dx.doi.org/10.1136/jmg.28.8.536