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Mark Domenic Pertile (Mark D Pertile)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2018-2023
Publications (10 Years): 14

Top Venues

Prenatal diagnosis

JCO precision oncology

European journal of human genetics : EJHG

Genetics in medicine : official journal of the American College of Medical Genetics

Murdoch Childrens Research Institute - Victorian Clinical Genetics Services Ltd

University of Melbourne (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Murdoch Childrens Research Institute - Victorian Clinical Genetics Services Ltd

Australia

Head of Laboratory :: Non-invasive prenatal testing

Education History

University of Melbourne

Australia

PHD :: Paediatrics

Publications

Marta Cifuentes Ochoa, Nicola Jane Flowers, Mark Domenic Pertile, Alison Dalton Archibald
"It becomes your whole life"-Exploring experiences of reciprocal translocation carriers and their partners. Journal of genetic counseling (2023)
Lisa Hui, Katie Ellis, Dora Mayen, Mark Domenic Pertile, Rebecca Riemers, Lu-Ming Sun, Joris Robert Vermeesch, Neeta L Vora, Lyn S Chitty
Position statement from the International Society for Prenatal Diagnosis (ISPD) on the use of non-invasive prenatal testing (NIPT) for the detection of fetal chromosomal conditions in singleton pregnancies. Prenatal diagnosis (2023)
Katrina L Scarff, Nicola Flowers, Clare J Love, Alison D Archibald, Clare E Hunt, Olivia Giouzeppos, Justine Elliott, Martin B Delatycki, Mark Domenic Pertile
Performance of a cell-free DNA prenatal screening test, choice of prenatal procedure, and chromosome conditions identified during pregnancy after low-risk cell-free DNA screening. Prenatal diagnosis 43 (2) (2023)
Katrina L Scarff, Nicola Flowers, Clare J Love, Alison D Archibald, Clare E Hunt, Olivia Giouzeppos, Justine Elliott, Martin B Delatycki, Mark Domenic Pertile
Performance of a cell-free DNA prenatal screening test, choice of prenatal procedure, and chromosome conditions identified during pregnancy after low-risk cell-free DNA screening. Prenatal diagnosis 43 (2) (2023)
Katrina L Scarff, Nicola Flowers, Clare J Love, Alison D Archibald, Clare E Hunt, Olivia Giouzeppos, Justine Elliott, Martin B Delatycki, Mark Domenic Pertile
Performance of a cell-free DNA prenatal screening test, choice of prenatal procedure, and chromosome conditions identified during pregnancy after low-risk cell-free DNA screening. Prenatal diagnosis (2023)
Katrina L Scarff, Nicola Flowers, Clare J Love, Alison D Archibald, Clare E Hunt, Olivia Giouzeppos, Justine Elliott, Martin B Delatycki, Mark Domenic Pertile
Performance of a cell-free DNA prenatal screening test, choice of prenatal procedure, and chromosome conditions identified during pregnancy after low-risk cell-free DNA screening. Prenatal diagnosis 43 (2) (2023)
Katrina L Scarff, Nicola Flowers, Clare J Love, Alison D Archibald, Clare E Hunt, Olivia Giouzeppos, Justine Elliott, Martin B Delatycki, Mark Domenic Pertile
Performance of a cfDNA prenatal screening test, choice of prenatal procedure, and chromosome conditions identified during pregnancy after low-risk cfDNA screening. Prenatal diagnosis (2023)
Molly Johnston, Chanelle Warton, Mark Domenic Pertile, Michelle M Taylor-Sands, Martin B Delatycki, Lisa Hui, Julian Savulescu, Catherine Mills
Ethical issues associated with prenatal screening using non-invasive prenatal testing for sex chromosome aneuploidy. Prenatal diagnosis (2022)
Eryn Dow, Alison Freimund, Kortnye Smith, Rod John Hicks, Peter Jurcevic, Mark Shackleton, Paul A James, Andrew Fellowes, Martin B Delatycki, Susan Fawcett, Nicola Jane Flowers, Mark Domenic Pertile, George McGillivray, Linda Mileshkin
Cancer Diagnoses Following Abnormal Noninvasive Prenatal Testing: A Case Series, Literature Review, and Proposed Management Model. JCO precision oncology 5 (2022)
Sarah R Greytak, Kelly B Engel, Sonya Parpart-Li, Muhammed Murtaza, Abel Jacobus Bronkhorst, Mark Domenic Pertile, Helen M Moore
Harmonizing Cell-Free DNA Collection and Processing Practices through Evidence-Based Guidance. Clinical cancer research : an official journal of the American Association for Cancer Research 26 (13) (2020)
Glenn E Palomaki, Rossa W K Chiu, Mark Domenic Pertile, Erik A Sistermans, Yuval Yaron, Joris Robert Vermeesch, Neeta L Vora, Robert G Best, Louise Wilkins-Haug
International Society for Prenatal Diagnosis Position Statement: cell free (cf)DNA screening for Down syndrome in multiple pregnancies. Prenatal diagnosis 41 (10) (2020)
Nicola Jane Flowers, Trent Burgess, Olivia Giouzeppos, Grace Shi, Clare Jane Love, Clare Elizabeth Hunt, Katrina Louise Scarff, Alison Dalton Archibald, Mark Domenic Pertile
Genome-wide noninvasive prenatal screening for carriers of balanced reciprocal translocations. Genetics in medicine : official journal of the American College of Medical Genetics 22 (12) (2020)
Karin Huijsdens-van Amsterdam, Lieve Page-Christiaens, Nicola Flowers, Michael D Bonifacio, Katie M Battese Ellis, Ida Vogel, Else Marie Vestergaard, Javier Miguelez, Mario Henrique Burlacchini de Carvalho, Erik A Sistermans, Mark Domenic Pertile
Isochromosome 21q is overrepresented among false-negative cell-free DNA prenatal screening results involving Down syndrome. European journal of human genetics : EJHG 26 (10) (2018)
Mark Domenic Pertile, Meredith Halks-Miller, Nicola Jane Flowers, Catalin Barbacioru, Sarah L Kinnings, Darcy Vavrek, William K Seltzer, Diana W Bianchi
Rare autosomal trisomies, revealed by maternal plasma DNA sequencing, suggest increased risk of feto-placental disease. Science translational medicine 9 (405) (2018)

Mark Domenic Pertile.css-eqlu8i{font-size:small;padding-left:4px;} (Mark D Pertile)

Publication Activity (10 Years)

Top Topics

Top Venues

Mark Domenic Pertile (Mark D Pertile)