| Identification of SOX3 as an XX male sex reversal gene in mice and humans E Sutton, J Hughes, S White, R Sekido, J Tan, V Arboleda, N Rogers, ... The Journal of clinical investigation 121 (1), 328-341, 2011 | 294 | 2011 |
| Copy number variation in patients with disorders of sex development due to 46, XY gonadal dysgenesis S White, T Ohnesorg, A Notini, K Roeszler, J Hewitt, H Daggag, C Smith, ... PloS one 6 (3), e17793, 2011 | 160 | 2011 |
| Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study MR Hart, BB Biesecker, CL Blout, KD Christensen, LM Amendola, ... Genetics in Medicine 21 (5), 1100-1110, 2019 | 145 | 2019 |
| Personal utility in genomic testing: a systematic literature review JN Kohler, E Turbitt, BB Biesecker European Journal of Human Genetics 25 (6), 662-668, 2017 | 135 | 2017 |
| Defining personal utility in genomics: A Delphi study B Kohler, J., Turbitt, E., Lewis, K., Wilfond, B., Jamal, L., Peay, H ... Clinical Genetics, 2017 | 79 | 2017 |
| Web platform vs in-person genetic counselor for return of carrier results from exome sequencing: a randomized clinical trial BB Biesecker, KL Lewis, KL Umstead, JJ Johnston, E Turbitt, KP Fishler, ... JAMA Internal Medicine 178 (3), 338-346, 2018 | 73 | 2018 |
| A multi-exon deletion within WWOX is associated with a 46, XY disorder of sex development S White, J Hewitt, E Turbitt, Y Van Der Zwan, R Hersmus, S Drop, ... European journal of human genetics 20 (3), 348-351, 2012 | 62 | 2012 |
| Addressing underrepresentation in genomics research through community engagement AA Lemke, ED Esplin, AJ Goldenberg, C Gonzaga-Jauregui, ... The American Journal of Human Genetics 109 (9), 1563-1571, 2022 | 39 | 2022 |
| Evaluation of recipients of positive and negative secondary findings evaluations in a hybrid CLIA-research sequencing pilot JC Sapp, JJ Johnston, K Driscoll, AR Heidlebaugh, AM Sagardia, ... The American Journal of Human Genetics 103 (3), 358-366, 2018 | 39 | 2018 |
| Novel methylation markers of the dysexecutive-psychiatric phenotype in FMR1 premutation women KM Cornish, CM Kraan, QM Bui, MA Bellgrove, SA Metcalfe, JN Trollor, ... Neurology 84 (16), 1631-1638, 2015 | 36 | 2015 |
| Advancing precision public health using human genomics: examples from the field and future research opportunities MC Roberts, AE Fohner, L Landry, DL Olstad, AK Smit, E Turbitt, CG Allen Genome medicine 13 (1), 97, 2021 | 30 | 2021 |
| SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotype R Hersmus, H Stoop, E Turbitt, JW Oosterhuis, SLS Drop, AH Sinclair, ... BMC medical genetics 13, 1-7, 2012 | 29 | 2012 |
| CITED2 mutations potentially cause idiopathic premature ovarian failure DJ Fonseca, D Ojeda, B Lakhal, R Braham, S Eggers, E Turbitt, S White, ... Translational Research 160 (5), 384-388, 2012 | 26 | 2012 |
| Australians’ perspectives on support around use of personal genomic testing: findings from the Genioz study SA Metcalfe, C Hickerton, J Savard, E Stackpoole, R Tytherleigh, E Tutty, ... European Journal of Medical Genetics 62 (5), 290-299, 2019 | 22 | 2019 |
| Preferences for results from genomic microarrays: comparing parents and health care providers E Turbitt, JL Halliday, DJ Amor, SA Metcalfe Clinical Genetics 87 (1), 21-29, 2015 | 21 | 2015 |
| Australians’ views on personal genomic testing: focus group findings from the Genioz study SA Metcalfe, C Hickerton, J Savard, B Terrill, E Turbitt, C Gaff, K Gray, ... European Journal of Human Genetics 26 (8), 1101-1112, 2018 | 19 | 2018 |
| Public or private care: where do specialists spend their time? GL Freed, E Turbitt, A Allen Australian Health Review 41 (5), 541-545, 2016 | 18 | 2016 |
| Feasibility of coping effectiveness training for caregivers of children with autism spectrum disorder: A genetic counseling intervention C Haakonsen Smith, E Turbitt, J Muschelli, L Leonard, KL Lewis, ... Journal of genetic counseling 27, 252-262, 2018 | 16 | 2018 |
| General practitioner perspectives on referrals to paediatric public specialty clinics GL Freed, E Turbitt, M Kunin, S Gafforini, L Sanci, N Spike Australian Family Physician 45 (10), 747-753, 2016 | 16 | 2016 |
| Lower urgency paediatric injuries: Parent preferences for emergency department or general practitioner care S Gafforini, E Turbitt, GL Freed Emergency Medicine Australasia 28 (5), 564-568, 2016 | 16 | 2016 |
Barbara BieseckerSenior Health Policy Analyst, RTI, InternationalDirección de correo verificada de rti.org
