Nicholas Pachter

Dr

  • The University of Western Australia (M503), 35 Stirling Highway,

    6009 Perth

    Australia

  • 204 Citations
  • 8 h-Index
20142019
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Research Output 2014 2019

  • 204 Citations
  • 8 h-Index
  • 24 Article
  • 3 Review article
  • 2 Chapter
  • 1 Abstract/Meeting Abstract
2019
2 Citations (Scopus)

Genomic testing for human health and disease across the life cycle: Applications and ethical, legal, and social challenges

Bilkey, G. A., Burns, B. L., Coles, E. P., Bowman, F. L., Beilby, J. P., Pachter, N. S., Baynam, G., S. Dawkins, H. J., Nowak, K. J. & Weeramanthri, T. S., 11 Mar 2019, In : Frontiers in Public Health. 7, MAR, 40.

Research output: Contribution to journalReview article

Open Access
Life Cycle Stages
Delivery of Health Care
Health
Technology
Informed Consent
2 Citations (Scopus)

Healthcare system priorities for successful integration of genomics: An Australian focus

Burns, B. L., Bilkey, G. A., Coles, E. P., Bowman, F. L., Beilby, J. P., Pachter, N. S., Baynam, G., Dawkins, H. J. S., Weeramanthri, T. S. & Nowak, K. J., 11 Mar 2019, In : Frontiers in Public Health. 7, 41.

Research output: Contribution to journalReview article

Open Access
Genomics
Technology
Delivery of Health Care
Health Policy
Lenses
1 Citation (Scopus)

Homologous recombination DNA repair defects in PALB2-associated breast cancers

kConFab Investigators & Cohen, P., 8 Aug 2019, In : npj Breast Cancer. 5, 1, 23.

Research output: Contribution to journalArticle

Open Access
Recombinational DNA Repair
Breast Neoplasms
Loss of Heterozygosity
Homologous Recombination
Alleles
2 Citations (Scopus)

Identification of clinically actionable variants from genome sequencing of families with congenital heart disease

Alankarage, D., Ip, E., Szot, J. O., Munro, J., Blue, G. M., Harrison, K., Cuny, H., Enriquez, A., Troup, M., Humphreys, D. T., Wilson, M., Harvey, R. P., Sholler, G. F., Graham, R. M., Ho, J. W. K., Kirk, E. P., Pachter, N., Chapman, G., Winlaw, D. S., Giannoulatou, E. & 1 othersDunwoodie, S. L., 1 May 2019, In : Genetics in Medicine. 21, 5, p. 1111-1120 10 p.

Research output: Contribution to journalArticle

Heart Diseases
Genome
Genes
Biomedical Technology Assessment
Molecular Pathology
Carcinoma
Mutation
Incidence
Genetic Counseling
Genetic Testing
1 Citation (Scopus)

Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers

The IMPACT Study Collaborators, 1 Dec 2019, In : European Urology. 76, 6, p. 831-842 12 p.

Research output: Contribution to journalArticle

Open Access
Prostate-Specific Antigen
Mutation
Prostatic Neoplasms
Biopsy
Neoplasms
3 Citations (Scopus)

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

Parsons, M. T., Tudini, E., Li, H., Hahnen, E., Wappenschmidt, B., Feliubadaló, L., Aalfs, C. M., Agata, S., Aittomäki, K., Alducci, E., Alonso-Cerezo, M. C., Arnold, N., Auber, B., Austin, R., Azzollini, J., Balmaña, J., Barbieri, E., Bartram, C. R., Blanco, A., Blümcke, B. & 201 othersBonache, S., Bonanni, B., Borg, Å., Bortesi, B., Brunet, J., Bruzzone, C., Bucksch, K., Cagnoli, G., Caldés, T., Caliebe, A., Caligo, M. A., Calvello, M., Capone, G. L., Caputo, S. M., Carnevali, I., Carrasco, E., Caux-Moncoutier, V., Cavalli, P., Cini, G., Clarke, E. M., Concolino, P., Cops, E. J., Cortesi, L., Couch, F. J., Darder, E., de la Hoya, M., Dean, M., Debatin, I., Del Valle, J., Delnatte, C., Derive, N., Diez, O., Ditsch, N., Domchek, S. M., Dutrannoy, V., Eccles, D. M., Ehrencrona, H., Enders, U., Evans, D. G., Farra, C., Faust, U., Felbor, U., Feroce, I., Fine, M., Foulkes, W. D., Galvao, H. C. R., Gambino, G., Gehrig, A., Gensini, F., Gerdes, A. M., Germani, A., Giesecke, J., Gismondi, V., Gómez, C., Gómez Garcia, E. B., González, S., Grau, E., Grill, S., Gross, E., Guerrieri-Gonzaga, A., Guillaud-Bataille, M., Gutiérrez-Enríquez, S., Haaf, T., Hackmann, K., Hansen, T. V. O., Harris, M., Hauke, J., Heinrich, T., Hellebrand, H., Herold, K. N., Honisch, E., Horvath, J., Houdayer, C., Hübbel, V., Iglesias, S., Izquierdo, A., James, P. A., Janssen, L. A. M., Jeschke, U., Kaulfuß, S., Keupp, K., Kiechle, M., Kölbl, A., Krieger, S., Kruse, T. A., Kvist, A., Lalloo, F., Larsen, M., Lattimore, V. L., Lautrup, C., Ledig, S., Leinert, E., Lewis, A. L., Lim, J., Loeffler, M., López-Fernández, A., Lucci-Cordisco, E., Maass, N., Manoukian, S., Marabelli, M., Matricardi, L., Meindl, A., Michelli, R. D., Moghadasi, S., Moles-Fernández, A., Montagna, M., Montalban, G., Monteiro, A. N., Montes, E., Mori, L., Moserle, L., Müller, C. R., Mundhenke, C., Naldi, N., Nathanson, K. L., Navarro, M., Nevanlinna, H., Nichols, C. B., Niederacher, D., Nielsen, H. R., Ong, K. R., Pachter, N., Palmero, E. I., Papi, L., Pedersen, I. S., Peissel, B., Perez-Segura, P., Pfeifer, K., Pineda, M., Pohl-Rescigno, E., Poplawski, N. K., Porfirio, B., Quante, A. S., Ramser, J., Reis, R. M., Revillion, F., Rhiem, K., Riboli, B., Ritter, J., Rivera, D., Rofes, P., Rump, A., Salinas, M., Sánchez de Abajo, A. M., Schmidt, G., Schoenwiese, U., Seggewiß, J., Solanes, A., Steinemann, D., Stiller, M., Stoppa-Lyonnet, D., Sullivan, K. J., Susman, R., Sutter, C., Tavtigian, S. V., Teo, S. H., Teulé, A., Thomassen, M., Tibiletti, M. G., Tischkowitz, M., Tognazzo, S., Toland, A. E., Tornero, E., Törngren, T., Torres-Esquius, S., Toss, A., Trainer, A. H., Tucker, K. M., van Asperen, C. J., van Mackelenbergh, M. T., Varesco, L., Vargas-Parra, G., Varon, R., Vega, A., Velasco, Á., Vesper, A. S., Viel, A., Vreeswijk, M. P. G., Wagner, S. A., Waha, A., Walker, L. C., Walters, R. J., Wang-Gohrke, S., Weber, B. H. F., Weichert, W., Wieland, K., Wiesmüller, L., Witzel, I., Wöckel, A., Woodward, E. R., Zachariae, S., Zampiga, V., Zeder-Göß, C., Investigators, KC. F., Lázaro, C., De Nicolo, A., Radice, P., Engel, C., Schmutzler, R. K., Goldgar, D. E. & Spurdle, A. B., 1 Sep 2019, In : Human Mutation. 40, 9, p. 1557-1578 22 p.

Research output: Contribution to journalArticle

Open Access
Virulence
Neoplasm Genes
Adenosine Monophosphate
Computational Biology
Calibration

Psychosocial impact of undergoing prostate cancer screening for men with BRCA1 or BRCA2 mutations

IMPACT Study Steering Comm & IMPACT Collaborators, Feb 2019, In : BJU International. 123, 2, p. 284-292 9 p.

Research output: Contribution to journalArticle

Open Access
Open Access
Western Australia
Cohort Studies
Research Ethics Committees
Health
Women's Health Services

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

ABCTB Investigators, GEMO Study Collaborators & kConFab, 1 Nov 2019, In : npj Breast Cancer. 5, 1, 38.

Research output: Contribution to journalArticle

Open Access
Triple Negative Breast Neoplasms
Breast Neoplasms
Chromosome Fragility
BRCA2 Gene
BRCA1 Gene

Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoea

Poulton, C., Pathak, G., Mina, K., Lassman, T., Azmanov, D. N., McCormack, E., Broley, S., Dreyer, L., Gration, D., Taylor, E., OSullivan, M., Siafarikis, A., Ravikumara, M., Dawkins, H., Pachter, N. & Baynam, G., 30 May 2019, In : Gene. 699, p. 110-114 5 p.

Research output: Contribution to journalReview article

Diarrhea
Liver
Exosome Multienzyme Ribonuclease Complex
Genetic Databases
Delayed Diagnosis
Western Australia
Germ-Line Mutation
Genetic Counseling
Genetic Testing
Counseling
2018
1 Citation (Scopus)

A case of vascular Ehlers-Danlos Syndrome with a cardiomyopathy and multi-system involvement

Lan, N. S. R., Fietz, M., Pachter, N., Paul, V. & Playford, D., 1 Jul 2018, In : Cardiovascular Pathology. 35, p. 48-51 4 p.

Research output: Contribution to journalArticle

Ehlers-Danlos Syndrome
Cardiomyopathies
Blood Vessels
Mutation
Connective Tissue
1 Citation (Scopus)

A case report of syndromic multinodular goitre in adolescence: Exploring the phenotype overlap between cowden and DICER1 syndromes

Soglio, D. B. D., De Kock, L., Gauci, R., Sabbaghian, N., Thomas, E., Atkinson, H. C., Pachter, N., Ryan, S., Walsh, J. P., Kumarasinghe, M. P., Carpenter, K., Aydogan, A., Stewart, C. J. R., Foulkes, W. D. & Choong, C. S., 1 Jan 2018, In : European Thyroid Journal. 7, 1, p. 44-50 7 p.

Research output: Contribution to journalArticle

Multiple Hamartoma Syndrome
Goiter
Phenotype
Thyroid Gland
Genetic Testing
11 Citations (Scopus)

A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data

Szot, J. O., Cuny, H., Blue, G. M., Humphreys, D. T., Ip, E., Harrison, K., Sholler, G. F., Giannoulatou, E., Leo, P., Duncan, E. L., Sparrow, D. B., Ho, J. W. K., Graham, R. M., Pachter, N., Chapman, G., Winlaw, D. S. & Dunwoodie, S. L., 1 Mar 2018, In : Circulation: Genomic and precision medicine. 11, 3, p. e001978

Research output: Contribution to journalArticle

Exome
Heart Diseases
Genes
Inborn Genetic Diseases
Molecular Pathology
7 Citations (Scopus)

Clinical significance of circulating microRNAs as markers in detecting and predicting congenital heart defects in children

Song, Y., Higgins, H., Guo, J., Harrison, K., Schultz, E. N., Hales, B. J., Moses, E. K., Goldblatt, J., Pachter, N. & Zhang, G., 27 Feb 2018, In : Journal of Translational Medicine. 16, 1, 42.

Research output: Contribution to journalArticle

Open Access
Congenital Heart Defects
MicroRNAs
Atrial Heart Septal Defects
Defects
Cardiovascular Diseases
2 Citations (Scopus)

Current mismatch repair deficiency tumor testing practices and capabilities: A survey of Australian pathology providers

Mascarenhas, L., Shanley, S., Mitchell, G., Spurdle, A. B., Macrae, F., Pachter, N., Buchanan, D. D., Ward, R. L., Fox, S., Duxbury, E., Driessen, R. & Boussioutas, A., 1 Dec 2018, In : Asia-Pacific Journal of Clinical Oncology. 14, 6, p. 417-425 9 p.

Research output: Contribution to journalArticle

Pathology
Neoplasms
Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms
Immunohistochemistry
3 Citations (Scopus)

Investigating barriers to genetic counselling and germline mutation testing in women with suspected Hereditary Breast and Ovarian Cancer Syndrome and Lynch syndrome

Shaw, J., Bulsara, C., Cohen, P., Gryta, M., Nichols, C. B., Schofield, L., O’Sullivan, S., Pachter, N. & Hardcastle, S. J., May 2018, In : Patient Education and Counseling. 101, 5, p. 938-944

Research output: Contribution to journalArticle

Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Nonpolyposis Colorectal Neoplasms
Germ-Line Mutation
Genetic Counseling
Genetic Testing
Protein Deficiency
DNA Mismatch Repair
Endometrial Neoplasms
Tumor-Infiltrating Lymphocytes
Proteins
2017
5 Citations (Scopus)

3-Dimensional facial analysis-facing precision public health

Baynam, G., Bauskis, A., Pachter, N., Schofield, L., Verhoef, H., Palmer, R. L., Kung, S., Helmholz, P., Ridout, M., Walker, C. E., Hawkins, A., Goldblatt, J., Weeramanthri, T. S., Dawkins, H. J. S. & Molster, C. M., 10 Apr 2017, In : Frontiers in Public Health. 5, 31.

Research output: Contribution to journalArticle

Open Access
Public Health
Public Health Practice
Technology
Phenotype
United States Public Health Service
10 Citations (Scopus)

De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects

Slavotinek, A., Risolino, M., Losa, M., Cho, M. T., Monaghan, K. G., Schneidman-Duhovny, D., Parisotto, S., Herkert, J. C., Stegmann, A. P. A., Miller, K., Shur, N., Chui, J., Muller, E., DeBrosse, S., Szot, J. O., Chapman, G., Pachter, N. S., Winlaw, D. S., Mendelsohn, B. A., Dalton, J. & 7 othersSarafoglou, K., Karachunski, P. I., Lewis, J. M., Pedro, H., Dunwoodie, S. L., Selleri, L. & Shieh, J., 15 Dec 2017, In : Human Molecular Genetics. 26, 24, p. 4849-4860 12 p.

Research output: Contribution to journalArticle

Hide and Seek with Hereditary Cancer: Evaluating a Theory Grounded Approach to Implementing Systems Change to Appropriately Detect and Refer Lynch Syndrome Patients

Naicker, S., Tucker, K., Macrae, F., Gill, A., Pachter, N., Parkinson, B., Solomon, M., Shaw, T., Kench, J., Canfell, K. & Taylor, N., Nov 2017, In : Asia-Pacific Journal of Clinical Oncology. 13, p. 196-197 2 p.

Research output: Contribution to journalAbstract/Meeting Abstract

7 Citations (Scopus)

Improved diagnosis and care for rare diseases through implementation of precision public health framework

Baynam, G., Bowman, F., Lister, K., Walker, C. E., Pachter, N., Goldblatt, J., Boycott, K. M., Gahl, W. A., Kosaki, K., Adachi, T., Ishii, K., Mahede, T., McKenzie, F., Townshend, S., Slee, J., Kiraly-Borri, C., Vasudevan, A., Hawkins, A., Broley, S., Schofield, L. & 39 othersVerhoef, H., Groza, T., Zankl, A., Robinson, P. N., Haendel, M., Brudno, M., Mattick, J. S., Dinger, M. E., Roscioli, T., Cowley, M. J., Olry, A., Hanauer, M., Alkuraya, F. S., Taruscio, D., Posada De La Paz, M., Lochmüller, H., Bushby, K., Thompson, R., Hedley, V., Lasko, P., Mina, K., Beilby, J., Tifft, C., Davis, M., Laing, N. G., Julkowska, D., Le Cam, Y., Terry, S. F., Kaufmann, P., Eerola, I., Norstedt, I., Rath, A., Suematsu, M., Groft, S. C., Austin, C. P., Draghia-Akli, R., Weeramanthri, T. S., Molster, C. & Dawkins, H. J. S., 2017, Rare Diseases Epidemiology: Update and Overview. Posada de la Paz, M., Taruscio, D. & Groft, S. C. (eds.). 2nd ed. Switzerland: Springer, p. 55-94 40 p. (Advances in Experimental Medicine and Biology; vol. 1031).

Research output: Chapter in Book/Conference paperChapter

Public health
Rare Diseases
Public Health
Health Policy
Health
2 Citations (Scopus)

Indigenous genetics and rare diseases: Harmony, diversity and equity

Baynam, G., Molster, C., Bauskis, A., Kowal, E., Savarirayan, R., Kelaher, M., Easteal, S., Massey, L., Garvey, G., Goldblatt, J., Pachter, N., Weeramanthri, T. S. & Dawkins, H. J. S., 2017, Rare Diseases Epidemiology: Update and Overview. Posada de la Paz, M., Taruscio, D. & Groft, S. C. (eds.). 2nd ed. Switzerland: Springer, p. 511-520 10 p. (Advances in Experimental Medicine and Biology; vol. 1031).

Research output: Chapter in Book/Conference paperChapter

Inborn Genetic Diseases
Rare Diseases
Genetic Services
Translational Medical Research
Public health
10 Citations (Scopus)

Initiating an undiagnosed diseases program in the Western Australian public health system

Baynam, G., Broley, S., Bauskis, A., Pachter, N., McKenzie, F., Townshend, S., Slee, J., Kiraly-Borri, C., Vasudevan, A., Hawkins, A., Schofield, L., Helmholz, P., Palmer, R., Kung, S., Walker, C. E., Molster, C., Lewis, B., Mina, K., Beilby, J., Pathak, G. & 23 othersPoulton, C., Groza, T., Zankl, A., Roscioli, T., Dinger, M. E., Mattick, J. S., Gahl, W., Groft, S., Tifft, C., Taruscio, D., Lasko, P., Kosaki, K., Wilhelm, H., Melegh, B., Carapetis, J., Jana, S., Chaney, G., Johns, A., Owen, P. W., Daly, F., Weeramanthri, T., Dawkins, H. & Goldblatt, J., 3 May 2017, In : Orphanet Journal of Rare Diseases. 12, 1, 83.

Research output: Contribution to journalArticle

Open Access
Western Australia
Public Health
Inborn Genetic Diseases
Translational Medical Research
Medical Staff
2016
71 Citations (Scopus)

Disorders of sex development: Insights from targeted gene sequencing of a large international patient cohort

Eggers, S., Sadedin, S., Van Den Bergen, J. A., Robevska, G., Ohnesorg, T., Hewitt, J., Lambeth, L., Bouty, A., Knarston, I. M., Tan, T. Y., Cameron, F., Werther, G., Hutson, J., O'Connell, M., Grover, S. R., Heloury, Y., Zacharin, M., Bergman, P., Kimber, C., Brown, J. & 47 othersWebb, N., Hunter, M. F., Srinivasan, S., Titmuss, A., Verge, C. F., Mowat, D., Smith, G., Smith, J., Ewans, L., Shalhoub, C., Crock, P., Cowell, C., Leong, G. M., Ono, M., Lafferty, A. R., Huynh, T., Visser, U., Choong, C. S., McKenzie, F., Pachter, N., Thompson, E. M., Couper, J., Baxendale, A., Gecz, J., Wheeler, B. J., Jefferies, C., Mackenzie, K., Hofman, P., Carter, P., King, R. I., Krausz, C., Van Ravenswaaij-Arts, C. M. A., Looijenga, L., Drop, S., Riedl, S., Cools, M., Dawson, A., Juniarto, A. Z., Khadilkar, V., Khadilkar, A., Bhatia, V., Dũng, V. C., Atta, I., Raza, J., Thi Diem Chi, N., Hao, T. K. & Harley, V., 29 Nov 2016, In : Genome Biology. 17, 1, p. 1-21

Research output: Contribution to journalArticle

Open Access
Disorders of Sex Development
gene
gender
Genes
genes
12 Citations (Scopus)
Genetic Counseling
Referral and Consultation
Mutation
Neoplasms
Germ-Line Mutation
22 Citations (Scopus)

The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service

Baynam, G., Pachter, N., McKenzie, F., Townshend, S., Slee, J., Kiraly-Borri, C., Vasudevan, A., Hawkins, A., Broley, S., Schofield, L., Verhoef, H., Walker, C. E. E., Molster, C., Blackwell, J. M., Jamieson, S., Tang, D., Lassmann, T., Mina, K., Beilby, J., Davis, M. & 5 othersLaing, N., Murphy, L., Weeramanthri, T., Dawkins, H. & Goldblatt, J., 2016, In : Orphanet Journal of Rare Diseases. 11, 7 p., 77.

Research output: Contribution to journalArticle

Genetic Services
Diagnostic Services
High-Throughput Nucleotide Sequencing
Rare Diseases
Western Australia
2014
14 Citations (Scopus)
225 Downloads (Pure)

Population-based screening for Lynch syndrome in Western Australia

Schofield, L., Grieu, F., Amanuel, B., Carrello, A. C., Spagnolo, D., Kiraly, C., Pachter, N., Goldblatt, J., Platell, C., Levitt, M., Stewart, C. J. R., Salama, P. R., Ee, H., Raftopoulous, S., Katris, P., Threlfall, T. J., Edkins, E., Wallace, M. & Iacopetta, B., 1 Sep 2014, In : International Journal of Cancer. 135, 5, p. 1085-1091

Research output: Contribution to journalArticle

Open Access
File
Hereditary Nonpolyposis Colorectal Neoplasms
Western Australia
Microsatellite Instability
DNA Mismatch Repair
Colorectal Neoplasms
15 Citations (Scopus)

The future in clinical genetics: Affective forecasting biases in patient and clinician decision making

Peters, S. A., Laham, S. M., Pachter, N. & Winship, I. M., 2014, In : Clinical Genetics. 85, 4, p. 312-317

Research output: Contribution to journalArticle

Nuclear Family
Decision Making
Genetic Testing
Psychology
Research