Dr Stefanie Eggers

Dynamic leader and laboratory technology professional with extensive and diverse experience and a friendly and positive attitude. Experienced as Head of Nucleic acid Extraction and Sequencing Technologies (NEST) and Head of R&D at the Victorian Clinical Genetics Services (VCGS) with a proven track record in senior leadership roles, strategic planning and operations management, stakeholder and client engagement, and developing and leading high-performing teams.

Passionate and skilled in a range of business administration matters, such as pricing, budget planning, budget control, and reporting. A critical thinker and problem solver dedicated to fostering a collaborative environment that drives continual improvement and employee engagement.

Proven success in leading complex and multi-disciplinary/center projects from start to finish and contributing to organizational growth and success.

Striving to enhance systems and align technical solutions with business objectives. Excels in developing efficient processes, ensuring high standards, and aligning efforts with organizational and strategic goals. Known for dedication and commitment to excellence.

• Establishment of a state-of-the-art genomics laboratory from the ground up an growing it into a multi-million dollar revenue laboratory handling hundreds of internal and external projects, multi-center collaborative projects, and processing over 50,000 samples in 2024.
• Building and managing a national (plus New Zealand), multi-center, ultra-rapid genetic test and its operational transition from research study to commercial test with 24/7 staff on-call.
• Achieved higher degree of laboratory and process automation by strategic utilisation of and investment in state-of the-art laboratory equipment (incl. liquid handlers, higher throughput sequencers, new technologies, 2D-barcoded sample storage systems, etc.) and software (laboratory inventory management systems (LIMS) for automated sample tracking, paperless processes, etc.) and software integrations (software to software and software to laboratory instruments).
• Collaborated in several national, multi-center, multi-year projects leading to the improvement of patient care and patient outcomes, leading to a more equal accessibility of cutting-edge genomic tests, and resulting in the implementation of new Medicare item numbers (Project examples: Mackenzie's Mission, Medicare item for three condition carrier screening, Acute Care Genomics, etc.).
• Transition of a research project for brain cancer (AIMbrain) from Monash University to a clinically accredited test at VCGS within 15 months.
• Supervised teams of ~30 staff members across three different laboratories.
• Commendations by the National Association of Testing Authorities (NATA) for the quality of test validations and documentations during accreditation visits (consistently from 2015-2025).
• Completion of a MBA while working full-time.

• 2024 Oxford NanoPore PromethION training
• 2024 Illumina NovaSeq X training
• 2023 Leading for Impact (senior leadership program)
• 2019 Thrive leadership course
• 2019 Illumina NovaSeq 6000 training
• 2018 Medical Laboratory Quality Network – Laboratory Internal Auditor Course (NATA)
• 2016 – 2017 Mentee in the 1st National Australia Bank (NAB) and Women in Science Parkville Precinct (WiSPP) mentoring program.Mentor: General manager – Digital and Direct, Specialised Sales, Business Bank:Susan Jansen
• 2015 Illumina HiSeq 3000/4000 training
• 2015 Genetic Variant Curation Workshop - Melbourne Genomics Health Alliance
• 2014 Illumina NextSeq 500 training
• 2013 New Supervisor Training – The University of Melbourne
• 2013 DNA of Management at MCRI and Australian Institute of Management
• 2012 Illumina MiSeq training
• 2012 Illumina HiSeq 2000/2500 training
• 2007 Hamilton robotics and other liquid handlers training

• 2014 – 2017 Human Genetics Society of Australasia; committee member
• 2014 – 2017 American Society of Human Genetics
• 2014 – 2025 Murdoch Children’s Research Institute Early-Mid Career Researchers Association; General committee member
• 2004 – 2009 Student Union - Technische Universität München, Munich Germany

• 2023 – 2025 Co-supervision of a clinician performing laboratory work for her PhD project (The Austin Hospital)
• 2015 - 2019 Co-supervision of Shalini Thirukeswaran, PhD student – PhD project on the genetics of Mitochondrial Complex I Deficiency (The University of Melbourne)
• 2015 - 2019 Co-supervision of Ingrid Knarston, PhD student – PhD project on the genetics of Disorders of Sex Development (The University of Melbourne)
• 2015 - 2017 Co-supervision of Aurore Beauty, MD – Research project on hypospadias (overseas student from France)
• 2013 MCRI Work Experience Program
• 2013 MCRI Student tour - Dafydd and Mary Jane Lewis Foundation
• 2013 Laboratory supervision of Dr Vicki Meyers-Wallen, visiting scientist from the Cornell University, USA
• 2012 – 2013 Laboratory supervision of Darmawarti Ayu Indraswari, M.Sc. student from The Diponegro University, Semarang, Indonesia
• 2010 – 2013 Scientist Mentor – Gene Technology Access Centre (GTAC) at the University Highschool, Melbourne, VIC
• 2009 Laboratory co-supervision of two undergraduate students at The Helmholtz Centre Munich, Germany

• 2024 Functional Genomics and joint Industry Seminar with Oxford NanoPore Technologies, Murdoch Children’s Research Institute (MCRI)/Victorian Clinical Genetics Services (VCGS)
• 2014 – 2019 Genomics Steering Committee at the Murdoch Children’s Research Institute
• 2013 - 2017 Functional Genomics Seminar Series, Murdoch Children’s Research Institute (MCRI)/Victorian Clinical Genetics Services (VCGS)
• 2012 National Health and Medical Research Council (NHMRC) DSD Program retreat

AI on several Australian government grants (Genomic Newborn Screening, Development of long-read sequencing for clinical use, etc.)

References can be provided upon request.

International conferences and speaking engagements

1. Industry session speaker: “Exomes at VCGS: A look under the hood” Human Genetics Society Australasia 2019, Wellington, New Zealand (Aug 2019)

2. Speaker: “A novel gene causative for Disorders of Sex Development and Intellectual Disability” Combined 10th Australasian Mutation Detection Meeting & 4th Molecular Genetics Society of Australasia Meeting, Daydream Island, Australia (Sept 2014)

3. Speaker: “Analysis of Disorders of Sex Development using Massively Parallel Sequencing” National Institute of Medical Research, London, UK (May 2013)

4. Speaker: “A novel mutation in NR5A1 revealed by Whole Exome Sequencing of a family with two DSD phenotypes” Combined 9th Australasian Mutation Detection Meeting & 4th Molecular Genetics Society of Australasia Meeting, Port Douglas, Australia (Sept 2012)

5. Speaker: “A novel mutation in NR5A1 revealed by Whole Exome Sequencing of a family with two DSD phenotypes” 6th International Symposium on the Biology of Vertebrate Sex Determination, Kona (Hawaii), USA (April 2012)

6. Speaker: “Next Generation Sequencing (NGS) in Disorders of Sex Development (DSD)” Medical University of Vienna, Dept. of Paediatrics and Adolescent Medicine, Vienna, Austria (Jan 2012)

7. Speaker: “Human disorders of sex development: Analysis of gene regulation and pathogenic mutations” Erasmus Medical Centre, Rotterdam, The Netherlands (May 2011)

8. Speaker: “ Human disorders of sex development: Analysis of gene regulation and pathogenic mutations” Helmholtz Centre Munich (HMGU), Munich, Germany (May 2011)

9. Speaker: “PhD project presentation” Helmholtz Centre (HMGU) Munich, Munich, Germany (Nov 2010)

10. Speaker: “Alpha testing of a new Whole Genome Amplification (WGA) product from Qiagen - Sample quality and its consequences for the amplification and genontyping” National Genome Research Network meeting, Berlin, Germany (Dec 2009)

National conferences and seminars

1. Speaker: “A novel gene causative for Disorders of Sex Development and Intellectual Disability” 4th Australian Sex Summit, Melbourne, Australia (Nov 2014)

2. Speaker: “Genetics of Disorders of Sex Development” Paediatric Urology Club Training Course, Royal Australian College of Surgeons, Melbourne, Australia (March 2014)

3. Speaker: “Human Disorders of Sex Development: Analysis of gene regulation and pathogenic mutations Institute for Molecular Bioscience, The University of Queensland, Brisbane, Australia (Sept 2012)

4. Speaker: “A novel mutation in NR5A1 revealed by Whole Exome Sequencing of a family with two DSD phenotypes” Melbourne Next Generation Sequencing – Special Interest Group Meeting at the Walter and Eliza Hall Institute for Medical Research, Melbourne, Australia (May 2012)

5. Speaker: “Whole genome analysis of patients with Disorders of Sex Development” 3rd Australian Sex Summit, Melbourne, Australia (Nov 2011)

6. Speaker: “ Human disorders of sex development: Analysis of gene regulation and pathogenic mutations” Institute for Molecular Bioscience, The University of Queensland, Brisbane, Australia (July 2011)

Local Seminars

1. Speaker: "Oxford NanoPore Long-read Sequencing of Whole Genomes" MCRI Functional Genomics Seminar Series, Melbourne, Australia (Jul 2024)

2. Speaker: “Using Next Generation Sequencing for genetic and epigenetic analyses of hypospadias patients” RCH Department for Urology Research Meeting, Melbourne, Australia (Nov 2014)

3. Speaker: “HaloPlex targeted MPS screen for Diagnosis and Gene Discovery in patients with Disorders of Sex Development” MCRI Functional Genomics Seminar Series, Melbourne, Australia (April 2014)

4. Speaker: “Analysis of Disorders of Sex Development using Massively Parallel Sequencing” NHMRC program meeting, Melbourne, Australia (July 2013)

5. Speaker: “A novel mutation in NR5A1 revealed by Whole Exome Sequencing of a family with two DSD phenotypes” Ian Potter Centre for Genomics and Personalised Medicine Seminar Series at MCRI, Melbourne, Australia (June 2013)

6. Speaker: “Human Disorders of Sex Development: Analysis of gene regulation and pathogenic mutations” MCRI Director’s Forum at MCRI, Melbourne, Australia (Feb 2013)

7. Speaker: “A novel mutation in NR5A1 revealed by Whole Exome Sequencing of a family with two DSD phenotypes” Molecular Medicine Seminar Series at MCRI (PhD completion seminar), Melbourne, Australia (Nov 2012)

8. Speaker: “A novel mutation in NR5A1 revealed by Whole Exome Sequencing of a family with two DSD phenotypes” NHMRC program meeting, Melbourne, Australia (Nov 2012)

9. Speaker: “Next Generation Sequencing (NGS) in Disorders of Sex Development (DSD) ” PhD advisory committee meeting at MCRI, Melbourne, Australia (Oct 2012)

10. Speaker: “Whole genome analysis of patients with Disorders of Sex Development” NHMRC program meeting, Melbourne, Australia (Mar 2012)

11. Speaker: “Human disorders of sex development: Analysis of gene regulation and pathogenic mutations” Annual PhD progress meeting at MCRI, Melbourne, Australia (Feb 2012)

12. Speaker: “Human disorders of sex development: Analysis of gene regulation and pathogenic mutations” NHMRC program meeting, Glen Erin, Australia (Nov 2010)

13. Speaker: “Human disorders of sex development: Analysis of gene regulation and pathogenic mutations” PhD confirmation meeting at MCRI, Melbourne, Australia (Mar 2011)

Posters

1. Poster: “Mutation detection in patients with disorders of sex development (DSD) – past, present and future” Mutation detection conference, Santorini, Greece (2011)

2. Poster: “A common FADS2 promoter polymorphism increases promoter activity and facilitates binding of transcription factor ELK1” Lipid meeting, Leipzig, Germany (2009)

• Kirk EP, Delatycki MB, Archibald AD, Tutty E, Caruana J, Halliday JL, Lewis S, McClaren BJ, Newson AJ, Dive L, Best S, Long JC, Braithwaite J, Downes MJ, Scuffham PA, Massie J, Barlow-Stewart K, Kulkarni A, Ruscigno A, Kanga-Parabia A, Rodrigues B, Bennetts BH, Ebzery C, Hunt C, Cliffe CC, Lee C, Azmanov D, King EA, Madelli EO, Zhang F, Ho G, Danos I, Liebelt J, Fletcher J, Kennedy J, Beilby J, Emery JD, McGaughran J, Marum JE, Scarff K, Fisk K, Harrison K, Boggs K, Giameos L, Fitzgerald L, Thomas L, Burnett L, Freeman L, Harris M, Berbic M, Davis MR, Cifuentes Ochoa M, Wallis M, Wall M, Chow MTM, Ferrie MM, Pachter N, Quayum N, Lang N, Kasi Pandy P, Casella R, Allcock RJN, Ong R, Edwards S, Sundercombe S, Jelenich S, Righetti S, Lunke S, Kaur S, Stock-Myer S, Eggers S, Walker SP, Theodorou T, Catchpool T, Clinch T, Roscioli T, Hardy T, Zhu Y, Fehlberg Z, Boughtwood TF, Laing NG; Mackenzie’s Mission Investigators; Mackenzie's Mission Investigators. Nationwide, Couple-Based Genetic Carrier Screening. N Engl J Med. 2024 Nov 21;391(20):1877-1889. doi: 10.1056/NEJMoa2314768. PMID: 39565987
• 'Mordaunt DA, Gonzalez FS, Lunke S, Eggers S, Sadedin S, Chong B, Dalziel K, Stark Z, Goranitis I. The cost of proband and trio exome and genome analysis in rare disease: A micro-costing study. Genet Med 2024 Apr;26(4):101058. doi: 10.1016/j.gim.2023.101058. Epub 2023 Dec 30. PMID: 38164890
• Sebastian Lunke, Sophie E Bouffler, Chirag V Patel, Sarah A Sandaradura, Meredith Wilson, Jason Pinner, Matthew F Hunter, Christopher P Barnett, Mathew Wallis, Benjamin Kamien, Tiong Y Tan, Mary-Louise Freckmann, Belinda Chong, Dean Phelan, David Francis, Karin S Kassahn, Thuong Ha, Song Gao, Peer Arts, Matilda R Jackson, Hamish S Scott, Stefanie Eggers, Simone Rowley, Kirsten Boggs, Ana Rakonjac, Gemma R Brett, Michelle G de Silva, Amanda Springer, Michelle Ward, Kirsty Stallard, Cas Simons, Thomas Conway, Andreas Halman, Nicole J Van Bergen, Tim Sikora, Liana N Semcesen, David A Stroud, Alison G Compton, David R Thorburn, Katrina M Bell, Simon Sadedin, Kathryn N North, John Christodoulou, Zornitza Stark. Integrated multi-omics for rapid rare disease diagnosis on a national scale. Nature Med. 2023 Jul;29(7):1681-1691. doi: 10.1038/s41591-023-02401-9. Epub 2023 Jun 8.PMID: 37291213
• Katie L. Ayers, Stefanie Eggers, Ben Rollo, Nadia Davidson, Nicole Siddall, Liang Zhao, Josephine Bowles, Katherine Smith, Karin Weiss, Ginevra Zanni, Lydie Burglen, Shay Ben Shachar, Jenny Rosensaft, Anick Raz Rothschild, Anne Jorgensen, Ralf B. Schittenhelm, Cheng Huang, Gorjana Robevska, Jocelyn van den Bergen, Franca Casagranda, Justyna Cyza, Svenja Pachernegg, David K. Wright, Melanie Bahlo, Alicia Oshlack, Terrence J. O’Brien, Patrick Kwan, Peter Koopman, Gary Hime, Nadine Girard, Chen Hoffman, Yuval Shilon, Amnon Zung, Enrico Bertini, Mathieu Milh, Bochra Ben Rhouma, Neila Belguith, Anu Bashamboo, Kenneth MacElreavey, Ehud Banne, Naomi Weintroub, Bruria Ben Zeev, Andrew H. Sinclair. Variants in SART3 cause a novel spliceosomopathy characterised by failure of testis development and neuronal defects. Nature Commun. 2023 Jun 9;14(1):3403. doi: 10.1038/s41467-023-39040-0.PMID: 37296101
• Croft B, Bird AD, Ono M, Eggers S, Bagheri-Fam S, Ryan JM, Reyes AP, van den Bergen J, Baxendale A, Thompson EM, Kueh AJ, Stanton P, Thomas T, Sinclair AH, Harley VR. FGF9 variant in 46,XY DSD patient suggests a role for dimerization in sex determination. Clin Genet. 2023 Mar;103(3):277-287. doi: 10.1111/cge.14261. Epub 2022 Nov 28.PMID: 36349847
• Helman G, Taylor LE, Walkiewicz M, Le Moing M, Eggers S, Yaplito-Lee J, Fuller M, Dabscheck G, Rodriguez-Casero V, White SM, Simons C. Aberrant splicing and transcriptional activity of TPP1 result in CLN2-like disorder. Eur J Med Genet. 2021 Aug;64(8):104259. doi: 10.1016/j.ejmg.2021.104259. Epub 2021 Jun 11.PMID: 34126256
• Howell KB, Freeman JL, Mackay MT, Fahey MC, Archer J, Berkovic SF, Chan E, Dabscheck G, Eggers S, Hayman M, Holberton J, Hunt RW, Jacobs SE, Kornberg AJ, Leventer RJ, Mandelstam S, McMahon JM, Mefford HC, Panetta J, Riseley J, Rodriguez-Casero V, Ryan MM, Schneider AL, Smith LJ, Stark Z, Wong F, Yiu EM, Scheffer IE, Harvey AS. The severe epilepsy syndromes of infancy: A population-based study. Epilepsia. 2021 Feb;62(2):358-370. doi: 10.1111/epi.16810. Epub 2021 Jan 21.PMID: 33475165
• Australian Genomics Health Alliance Acute Care Flagship, Lunke S, Eggers S, Wilson M, Patel C, Barnett CP, Pinner J, Sandaradura SA, Buckley MF, Krzesinski EI, de Silva MG, Brett GR, Boggs K, Mowat D, Kirk EP, Adès LC, Akesson LS, Amor DJ, Ayres S, Baxendale A, Borrie S, Bray A, Brown NJ, Chan CY, Chong B, Cliffe C, Delatycki MB, Edwards M, Elakis G, Fahey MC, Fennell A, Fowles L, Gallacher L, Higgins M, Howell KB, Hunt L, Hunter MF, Jones KJ, King S, Kumble S, Lang S, Le Moing M, Ma A, Phelan D, Quinn MCJ, Richards A, Richmond CM, Riseley J, Rodgers J, Sachdev R, Sadedin S, Schlapbach LJ, Smith J, Springer A, Tan NB, Tan TY, Temple SL, Theda C, Vasudevan A, White SM, Yeung A, Zhu Y, Martyn M, Best S, Roscioli T, Christodoulou J, Stark Z. Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System. JAMA. 2020 Jun 23;323(24):2503-2511. doi: 10.1001/jama.2020.7671.PMID: 32573669
• Dong X, Tan NB, Howell KB, Barresi S, Freeman JL, Vecchio D, Piccione M, Radio FC, Calame D, Zong S, Eggers S, Scheffer IE, Tan TY, Van Bergen NJ, Tartaglia M, Christodoulou J, White SM.Am Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification. J Hum Genet. 2020 Apr 2;106(4):559-569. doi: 10.1016/j.ajhg.2020.02.014. Epub 2020 Mar 19.PMID: 32197075
• van den Bergen JA, Robevska G, Eggers S, Riedl S, Grover SR, Bergman PB, Kimber C, Jiwane A, Khan S, Krausz C, Raza J, Atta I, Davis SR, Ono M, Harley V, Faradz SMH, Sinclair AH, Ayers KL. Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development. Mol Genet Genomic Med. 2020 Mar;8(3):e1095. doi: 10.1002/mgg3.1095. Epub 2020 Jan 21.PMID: 31962012
• Akesson LS, Eggers S, Love CJ, Chong B, Krzesinski EI, Brown NJ, Tan TY, Richmond CM, Thorburn DR, Christodoulou J, Hunter MF, Lunke S, Stark Z. Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing. Eur J Hum Genet. 2019 Dec;27(12):1821-1826. doi: 10.1038/s41431-019-0477-3. Epub 2019 Jul 29.PMID: 31358953
• Kaur S, Van Bergen NJ, Gold WA, Eggers S, Lunke S, White SM, Ellaway C, Christodoulou Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome-like patient. J.Clin Case Rep. 2019 Nov 12;7(12):2476-2482. doi: 10.1002/ccr3.2511. eCollection 2019 Dec.PMID: 31893083
• Boelsen LK, Dunne EM, Mika M, Eggers S, Nguyen CD, Ratu FT, Russell FM, Mulholland EK, Hilty M, Satzke C. The association between pneumococcal vaccination, ethnicity, and the nasopharyngeal microbiota of children in Fiji. Microbiome. 2019 Jul 16;7(1):106. doi: 10.1186/s40168-019-0716-4.PMID: 31311598
• Knarston IM, Robevska G, van den Bergen JA, Eggers S, Croft B, Yates J, Hersmus R, Looijenga LHJ, Cameron FJ, Monhike K, Ayers KL, Sinclair AH. NR5A1 gene variants repress the ovarian-specific WNT signalling pathway in 46,XX Disorders of sex development patients. Hum Mutat. 2018 Oct 23. doi: 10.1002/humu.23672. PMID: 30350900
• Howell KB, Eggers S, Dalziel K, Riseley J, Mandelstam S, Myers CT, McMahon JM, Schneider A, Carvill GL, Mefford HC; Victorian Severe Epilepsy of Infancy Study Group, Scheffer IE, Harvey AS. A population-based cost-effectiveness study of early genetic testing in severe epilepsies of infancy. Epilepsia. 2018 Jun;59(6):1177-1187. doi: 10.1111/epi.14087. Epub 2018 May 11. PMID: 29750358
• Tan TY, Gonzaga-Jauregui C, Bhoj EJ, Strauss KA, Brigatti K, Puffenberger E, Li D, Xie L, Das N, Skubas I, Deckelbaum RA, Hughes V, Brydges S, Hatsell S, Siao CJ, Dominguez MG, Economides A, Overton JD, Mayne V, Simm PJ, Jones BO, Eggers S, Le Guyader G, Pelluard F, Haack TB, Sturm M, Riess A, Waldmueller S, Hofbeck M, Steindl K, Joset P, Rauch A, Hakonarson H, Baker NL, Farlie PG. Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions. Am J Hum Genet. 2017 Dec 7;101(6):985-994. doi: 10.1016/j.ajhg.2017.10.006. Epub 2017 Nov 30. PMID: 29198724
• Meyers-Wallen VN, Boyko AR, Danko CG, Grenier JK, Mezey JG, Hayward JJ, Shannon LM, Gao C, Shafquat A, Rice EJ, Pujar S, Eggers S, Ohnesorg T, Sinclair AH. XX Disorder of Sex Development is associated with an insertion on chromosome 9 and downregulation of RSPO1 in dogs (Canis lupus familiaris).PLoS One. 2017 Oct 20;12(10):e0186331. doi: 10.1371/journal.pone.0186331. eCollection 2017. PMID: 29053721
• Robevska G, van den Bergen JA, Ohnesorg T, Eggers S, Hanna C, Hersmus R, Thompson EM, Baxendale A, Verge CF, Lafferty AR, Marzuki NS, Santosa A, Listyasari NA, Riedl S, Warne G, Looijenga L, Faradz S, Ayers KL, Sinclair AH. Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development. Hum Mutat. 2018 Jan;39(1):124-139. doi: 10.1002/humu.23354. Epub 2017 Nov 2. PMID: 29027299
• Schönewolf-Greulich B, Bisgaard AM, Møller RS, Dunø M, Brøndum-Nielsen K, Kaur S, Van Bergen NJ, Lunke S, Eggers S, Jespersgaard C, Christodoulou J, Tümer Z. Clinician's guide to genes associated with Rett-like phenotypes-Investigation of a Danish cohort and review of the literature. Clin Genet. 2017 Oct 10. doi: 10.1111/cge.13153. [Epub ahead of print] Review. PMID: 29023665
• Eggers S, Sadedin S, van den Bergen JA, Robevska G, Ohnesorg T, Hewitt J, Lambeth L, Bouty A, Knarston IM, Tan TY, Cameron F, Werther G, Hutson J, O'Connell M, Grover SR, Heloury Y, Zacharin M, Bergman P, Kimber C, Brown J, Webb N, Hunter MF, Srinivasan S, Titmuss A, Verge CF, Mowat D, Smith G, Smith J, Ewans L, Shalhoub C, Crock P, Cowell C, Leong GM, Ono M, Lafferty AR, Huynh T, Visser U, Choong CS, McKenzie F, Pachter N, Thompson EM, Couper J, Baxendale A, Gecz J, Wheeler BJ, Jefferies C, MacKenzie K, Hofman P, Carter P, King RI, Krausz C, van Ravenswaaij-Arts CM, Looijenga L, Drop S, Riedl S, Cools M, Dawson A, Juniarto AZ, Khadilkar V, Khadilkar A, Bhatia V, Dũng VC, Atta I, Raza J, Thi Diem Chi N, Hao TK, Harley V, Koopman P, Warne G, Faradz S, Oshlack A, Ayers KL, Sinclair AH. Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort. Genome Biol. 2016 Nov 29;17(1):243. PMID: 27899157
• Narayan N, Morenos L, Phipson B, Willis SN, Brumatti G, Eggers S, Lalaoui N, Brown LM, Kosasih HJ, Bartolo RC, Zhou L, Catchpoole D, Saffery R, Oshlack A, Goodall GJ, Ekert PG. Functionally distinct roles for different miR-155 expression levels through contrasting effects on gene expression, in acute myeloid leukaemia. Leukemia. 2017 Apr;31(4):808-820. doi: 10.1038/leu.2016.279. Epub 2016 Oct 14.PMID: 27740637
• Juniarto Z, van der Zwan YG, Santosa A, Ariani MD, Eggers S, Hersmus R, Themmen AP, Bruggenwirth HT, Wolffenbuttel KP, Sinclair A, White SJ, Looijenga LH, de Jong FH, Faradz SM, Drop SL. Hormonal evaluation in relation to phenotype and genotype in 286 patients with a Disorder of Sex Development from Indonesia. Clin Endocrinol (Oxf) (2016) Mar 3. doi: 10.1111/cen.13051.
• Wong NC, Pope BJ, Candiloro IL, Korbie D, Trau M, Wong SQ, Mikeska T, Zhang X, Pitman M, Eggers S, Doyle SR, Dobrovic A. MethPat: a tool for the analysis and visualisation of complex methylation patterns obtained by massively parallel sequencing. BMC Bioinformatics (2016) Feb 24;17(1):98. doi: 10.1186/s12859-016-0950-8.
• Wong NC, Pope BJ, Candiloro I, Korbie D, Trau M, Wong SQ, Mikeska T, van Denderen BJ, Thompson EW, Eggers S, Doyle SR, Dobrovic A. Exemplary multiplex bisulfite amplicon data used to demonstrate the utility of Methpat. Gigascience(2015) Nov 26;4:55. doi: 10.1186/s13742-015-0098-x. eCollection 2015.
• Eggers S, DeBoer K D, van den Bergen J, Gordon L, White S J, Duangporn J, McLachlan R I, Sinclair A H, O’Bryan M K. Copy number variation associated with meiotic arrest in idiopathic male infertility. Fertility and Sterility (2014) Oct 25. doi: http://dx.doi.org/10.1016/j.fertnstert.2014.09.030
• Eggers S, Ohnesorg T, Sinclair A. Genetic regulation of mammalian gonad development. Nature Reviews Endocrinology (2014) Nov;10(11):673-683. doi: 10.1038/nrendo.2014.163. Epub 2014 Sep 23.
• Eggers S, Smith K R, Bahlo M, Looijenga L H J, Drop S L S, Juniarto Z A, Harley V R, Koopman P, Faradz S M H, Sinclair A H. Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1. European Journal of Human Genetics (2014) Aug 6. doi: 10.1038/ejhg.2014.130. [Epub ahead of print]
• Fonseca DJ, Ojeda D, Lakhal B, Braham R, Eggers S, Turbitt E, White S, Grover S, Warne G, Zacharin M, Nevin Lam A, Landolsi H, Elghezal H, Saad A, Restrepo CM, Fellous M, Sinclair A, Koopman P and Laissue P. CITED2 mutations potentially cause idiopathic premature ovarian failure. Translational Research (2012) 160:384-388
• Eggers S and Sinclair A. Mammalian sex determination-insights from humans and mice. Chromosome Research (2012) 20:215-238
• Ohnesorg T, Eggers S and White SJ. Detecting DNaseI-hypersensitivity sites with MLPA. Methods in molecular biology (2012) 786:201-210
• Lattka E, Eggers S, Moeller G, Heim K, Weber M, Mehta D, Prokisch H, Illig T and Adamski J. A common FADS2 promoter polymorphism increases promoter activity and facilitates binding of transcription factor ELK1. Journal of Lipid Research (2010) 51:182-191
• Ohnesorg T, Eggers S, Leonhard WN, Sinclair AH and White SJ. Rapid high-throughput analysis of DNaseI hypersensitive sites using a modified Multiplex Ligation-dependent Probe Amplification approach. BMC Genomics (2009) 10:412