• FRACP Clinical Genetics–Royal Australasian College of Physicians and Human Genetics Society of Australasia, 2007
• MMedSci Epidemiology – University of Newcastle, NSW 1997
• FRACP Paediatrics – Royal Australasian College of Physicians 1993
• MRCP(UK) Paediatrics-Royal College of Physicians, London 1988
• MB, BCh, BAO, BA – Trinity College Dublin, Ireland 1984

Anne trained as a paediatrician through Trinity College Dublin teaching hospitals and the Royal Children’s Hospital Melbourne, including a 2-year research fellowship in ICDDR(B), Dhaka, Bangladesh.  She obtained further training in clinical epidemiology with the Centre for Clinical Epidemiology and Biostatistics (CCEB), University of Newcastle, and in clinical genetics through Hunter Genetics Unit Newcastle and the Children’s Hospital Westmead, as well as an Arnott research fellowship in genetic epidemiology.

Since moving to Newcastle in 1994 Anne has held positions as Staff Specialist in Developmental Paediatrics, Emergency medicine, and Senior Staff Specialist in Clinical Genetics with Hunter New England Area Health Service, and as lecturer with the University of Newcastle Centre for Clinical Epidemiology and Biostatistics and the School of Medicine and Public Health.

Also trained in counselling and stretch therapy, she values precision and avoids assumptions.

The breadth of this experience guides each consultation.

• Ronan A, Hogg GG, Klug GL. Cerebrospinal fluid shunt infections in children. Pediatr Infect Dis J. 1995 Sep;14(9):782-6. PubMed PMID: 8559628.
• Ronan A, Azad AK, Rahman O, Phillips RE, Bennish ML. Hyperglycemia during childhood diarrhea. J Pediatr. 1997 Jan;130(1):45-51. PubMed PMID: 9003850.
• Hanif M, Mobarak MR, Ronan A, Rahman D, Donovan JJ, Bennish ML. Fatal renal failure caused by diethylene glycol in paracetamol elixir: the Bangladesh epidemic. BMJ. 1995 Jul;311(6997):88-91. PubMed PMID: 7613408. PMCID: PMC2550149.
• Khan WA, Bennish ML, Seas C, Khan EH, Ronan A, Dhar U, et al. Randomised controlled comparison of single-dose ciprofloxacin and doxycycline for cholera caused by Vibrio cholerae 01 or 0139. Lancet. 1996 Aug;348(9023):296-300. PubMed PMID: 8709688.
• Salam MA, Khan WA, Dhar U, Ronan A, Rollins NC, Bennish ML. Vitamin A for treating shigellosis. Study did not prove benefit. BMJ. 1999 Apr;318(7188):939-40. PubMed PMID: 10102870. PMCID: PMC1115350.
• LaPorte RE, Ronan A, Sauer F, Saad R, Shubnikov E. Bioterrorism and the epidemiology of fear. Lancet Infect Dis. 2002 Jun;2(6):326. PubMed PMID: 12144895.
• Ronan A, Fagan K, Christie L, Conroy J, Nowak NJ, Turner G. Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region. J Med Genet. 2007 Jul;44(7):448-51. PubMed PMID: 17237124. PMCID: PMC2598003.
• Ronan A, Buiting K, Dudding T. Atypical Angelman syndrome with macrocephaly due to a familial imprinting center deletion. Am J Med Genet A. 2008 Jan;146A(1):78-82. PubMed PMID: 17975803.
• Ronan A, Fagan K, Christie L, Conroy J, Nowak NJ, Turner G. Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region. BMJ Case Rep. 2009; PubMed PMID: 21686961. PMCID: PMC3027932.
• Tan TY, Aftimos S, Worgan L, Susman R, Wilson M, Ghedia S, Kirk EP, Love D, Ronan A, Darmanian A, Slavotinek A, Hogue J, Moeschler JB, Ozmore J, Widmer R, Bruno D, Savarirayan R, Peters G.   Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome. J Med Genet. 2009 Jul;46(7):480-9. PubMed PMID: 19447831.
• Dibbens LM, Kneen R, Bayly MA, Heron SE, Arsov T, Damiano JA, Desai T, Gibbs J, McKenzie F, Mulley JC, Ronan A, Scheffer IE.  Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations. Neurology. 2011 Apr;76(17):1514-9. PubMed PMID: 21519002.
• Maupetit-Méhouas S, Mariot V, Reynès C, Bertrand G, Feillet F, Carel JC, Simon D, Bihan H, Gajdos V, Devouge E, Shenoy S, Agbo-Kpati P, Ronan A, Naud-Saudreau C, Lienhardt A, Silve C, Linglart A.  Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib. J Med Genet. 2011 Jan;48(1):55-63. PubMed PMID: 20972248.
• Schönewolf-Greulich B, Ronan A, Ravn K, Baekgaard P, Lodahl M, Nielsen K, et al. Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region. Am J Med Genet A. 2011 Dec;155A(12):2964-9. PubMed PMID: 22052739.
• Bachmann-Gagescu R, Ishak GE, Dempsey JC, Adkins J, O’Day D, Phelps IG, Gunay-Aygun M, Kline AD, Szczaluba K, Martorell L, Alswaid A, Alrasheed S, Pai S, Izatt L, Ronan A, Parisi MA, Mefford H, Glass I, Doherty D.  Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures. J Med Genet. 2012 Feb;49(2):126-37. PMID: 22241855.
• Tlili A, Hoischen A, Ripoll C, Benabou E, Badel A, Ronan A, et al. BDNF and DYRK1A are variable and inversely correlated in lymphoblastoid cell lines from Down syndrome patients. Mol Neurobiol. 2012 Oct;46(2):297-303. PMID: 22669612.
• Saha D, Ronan A, Khan WA, Salam MA. Diagnosis of pneumonia in children with dehydrating diarrhoea. J Health Popul Nutr. 2014 Mar;32(1):14-8. PMID: 24847588. PMCID: PMC4089067.
• Sousa SB, Hennekam RC, Consortium N-BSI. Phenotype and genotype in Nicolaides-Baraitser syndrome. Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):302-14. PMID: 25169058.
• Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, van der Knaap MS, Bernard G.  4H Research Group.  Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations. Neurology. 2014 Nov;83(21):1898-905. PMID: 25339210. PMCID: PMC4248461.
• Kamien B, Dadd T, Buckman M,Ronan A, Dudding T, Meldrum C, Scott R, Mina K.  Somatic-gonadal mosaicism causing Sotos syndrome.  Am J Med Genet A. 2016 Dec;170(12):3360-3362.
• Murray N, Hanna B, Fu H,  Mylène V, Graf N, Campeau PM, Ronan A.  The Spectrum of Infantile Myofibromatosis Includes Both Non-penetrance and Adult Recurrence.  Eur J Med Genet. 2017 Jul;60(7):353-358.
• Ronan A, Ingrey A, Murray N, Chee P.  Recurrent ATP2A2 p.(Pro602Leu) mutation differentiates Acrokeratosis verruciformis of Hopf from the allelic condition Darier disease. Am J Med Genet A. 2017 May 12. [Epub ahead of print]
• Gabriele M, Vulto-van Silfhout AT, Germain PL, Vitriolo A, Kumar R, Douglas E, Haan E, Kosaki K, Takenouchi T, Rauch A, Steindl K, Frengen E, Misceo D, Pedurupillay CRJ, Stromme P, Rosenfeld JA, Shao Y, Craigen WJ, Schaaf CP, Rodriguez-Buritica D, Farach L, Friedman J, Thulin P, McLean SD, Nugent KM, Morton J, Nicholl J, Andrieux J, Stray-Pedersen A, Chambon P, Patrier S, Lynch SA, Kjaergaard S, Tørring PM, Brasch-Andersen C, Ronan A, van Haeringen A, Anderson PJ, Powis Z, Brunner HG, Pfundt R, Schuurs-Hoeijmakers JHM, van Bon BWM, Lelieveld S, Gilissen C, Nillesen WM, Vissers LELM, Gecz J, Koolen DA, Testa G, de Vries BBA.  YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction. Am J Hum Genet. 2017 Jun 1;100(6):907-925.
• Bagnall, R. D., Ingles, J., Dinger, M. E., Cowley, M. J., Ross, S. B., Minoche, A. E., Lal, S., Turner, C., Colley, A., Rajagopalan, S., Berman, Y., Ronan, A., Fatkin, D. and Semsarian, C. Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy’, J Am Coll Cardiol, 2018 72(4), pp. 419-429.
• Ronan A.  Chromosome Microarray Analysis:  a soothing guide.  J Paed Ch Health 2018 (epub ahead of print)
• Kamien, B., Ronan, A., Poke, G., Sinnerbrink, I., Baynam, G., Ward, M., Gibson, W. T., Dudding-Byth, T. and Scott, R. J. A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel Sequencing, Mol Syndromol, 2018 9(2), pp. 70-82.
• Van Eyck L, Bruni F, Ronan A, Briggs TA, Roscioli T, Rice GI, Vassallo G, Rodero MP, He L, Taylor RW, Livingston JH, Chrzanowska-Lightowlers ZMA, Crow YJ. Biallelic Mutations in MTPAP Associated with a Lethal Encephalopathy. Neuropediatrics. 2020 Jun;51(3):178-184.
• Peng H, Jenkins ZA, White R, Connors S, Hunter MF, Ronan A, Zankl A, Markie DM, Daniel PB, Robertson SP.  An Activating Variant in CTNNB1 is Associated with a Sclerosing Bone Dysplasia and Adrenocortical Neoplasia.   J Clin Endocrinol Metab. 2020 Mar 1;105(3)
• Pelletier F and POLR3 study group.  Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C. J Clin Endocrinol Metab 2021 ;106(2):e660-e674
• Tessadori F, Duran K, Knapp K, Fellner M, DDD Study, Smithson S, Meireles A, Elting MW, Waisfisz Q, O’Donnell-Luria A, Nowak C, Douglas J, Ronan A et al. Recurrent de novo missense variants across multiple histone H4 genes underlie a  neurodevelopmental syndrome. Am J Med Genet 2022;
• Anning R, Huang J, Ronan A, de Malmanche J, Asher R, Low, TH.  Improvement in epistaxis management: the experience of a dedicated hereditary haemorrhagic telangiectasia clinic. ANZ J Surg 2022; 92(3):499-504

• Butters A, Thomson K, Harrington F, Henden N, McGuire K, Byrne AB, Bryen S, Leask M, Ackerman MJ, Atherton J, Bos JM, Caleshu C, Parikh VN, Day S, Tardiff JC, Dunn K, Hayes I, Juang J, McGaughran JM, Nowak N, Ronan A, Semsarian C, Tiemensma M, Merriman TR, Skinner JR, MacArthur DG, Siggs OM, Bagnall RD, Ingles J. A rare splice-site variant in troponin-T: The need for ancestral diversity in genomic reference datasets. European Heart Journal. 2025. In press. Accepted Jan 2.