Agnes Bankier

Tay Sachs disease in Australia: reduced disease incidence despite stable carrier frequency in Australian Jews

Raelia M Lew, Anne L Proos, Leslie Burnett, Martin Delatyckl, Agnes Bankier, Michael J Fietz

Journal article  |  2012  |  Medical Journal of Australia

Population-based carrier screening for cystic fibrosis in Victoria: The first three years experience

John Massie, Vicki Petrou, Robyn Forbes, Lisette Curnow, Liane Ioannou, Desiree Dusart, Agnes Bankier, Martin Delatycki

Journal article  |  2009  |  Australian and New Zealand Journal of Obstetrics and Gynaecology

Two Cases of Trisomy 16 Mosaicism Ascertained Postnatally

Claudine Rieubland, David Francis, Leonie Houben, Sylvea Corrie, Agnes Bankier, Susan M White

Journal article  |  2009  |  American Journal of Medical Genetics. Part A

Consumer contribution to the delivery of genetic health services

Amy Nisselle, Robin Forbes, Agnes Bankier, Eilis Hughes, MaryAnne Aitken

Journal article  |  2008  |  American Journal of Medical Genetics

Community-wide screening for cystic fibrosis carriers could replace newborn screening for the diagnosis of cystic fibrosis

John Massie, Robin Forbes, Desiree duSart, Agnes Bankier, Martin B Delatycki

Journal article  |  2007  |  Journal of Paediatrics and Child Health

Keipert syndrome (Nasodigitoacoustic syndrome) is X-linked and maps to Xq22.2-Xq28

David J Amor, Hans-Henrik M Dahl, Melanie Bahlo, Agnes Bankier

Journal article  |  2007  |  American Journal of Medical Genetics

A discrete choice experiment of preferences for genetic counselling among Jewish women seeking cancer genetics services

S Peacock, C Apicella, L Andrews, K Tucker, A Bankier, MB Daly, JL Hopper

Journal article  |  2006  |  British Journal of Cancer

Construction and use of facial archetypes in anthropology and syndrome diagnosis

AIM Shaweesh, JG Clement, CDL Thomas, A Bankier

Journal article  |  2006  |  Forensic Science International

Distinctive collection of fetal anomalies: cleft lip and palate, multicystic dysplastic kidneys, 1-2 syndactyly, heterotopic olivary tissue and thymic hypoplasia

Tiong Yang Tan, Simon Nazaretian, George McGillivray, Ian Simpson, Agnes Bankier

Journal article  |  2006  |  Clinical Dysmorphology

A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu Syndrome

TY Tan, A Bankier, HR Slater, EL Northrop, M Zacharin, R Savarirayan

Journal article  |  2005  |  American Journal of Medical Genetics

Screening couples for cystic fibrosis carrier status: why are we waiting?

RJ Massie, MB Delatycki, A Bankier

Journal article  |  2005  |  Medical Journal of Australia

Tay Sachs disease carrier screening in schools: Educational alternatives and cheekbrush sampling

AA Gason, SA Metcalfe, MB Delatycki, V Petrou, E Sheffield, A Bankier, MA Aitken

Journal article  |  2005  |  Genetics in Medicine

Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain

G McGillivray, R Savarirayan, TC Cox, C Stojkoski, R McNeil, A Bankier, JF Bateman, T Roscioli, RJM Gardner, SR Lamande

Journal article  |  2005  |  Journal of Medical Genetics

The adult phenotype in Costello syndrome

SM White, JM Graham, B Kerr, K Gripp, R Weksberg, C Cytrynbaum, JL Reeder, FJ Stewart, M Edwards, M Wilson, A Bankier

Journal article  |  2005  |  American Journal of Medical Genetics

Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) Syndrome

SM White, EM Thompson, A Kidd, R Savarirayan, A Turner, D Amor, MB Delatycki, M Fahey, A Baxendale, S White, E Haan, K Gibson, JL Halliday, A Bankier

Journal article  |  2004  |  American Journal of Medical Genetics

Retention of Guthrie cards: Reassuring parents

L Skene, A Bankier, P Nisselle

Journal article  |  2004  |  Medicine Today

Evaluation of a Tay-Sachs Disease screening program

AA Gason, E Sheffield, A Bankier, MA Aiken, S Metcalfe, KB Stewart, MB Delatycki

Journal article  |  2003  |  Clinical Genetics

Two further cases of Ohdo syndrome delineate the phenotypic variability of the condition

SM White, LC Ades, D Amor, J Liebelt, A Bankier, E Baker, M Wilson, R Savarirayan

Journal article  |  2003  |  Clinical Dysmorphology

Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene

MR Davis, E Haan, H Jungbluth, C Sewry, K North, F Muntoni, T Kuntzer, P Lamont, A Bankier, P Tomlinson, A Sanchez, P Walsh, L Nagarajan, C Oley, A Colley, A Gedeon, R Quinlivan, J Dixon, D James, CR Muller, et al.

Journal article  |  2003  |  Neuromuscular Disorders

Variable expression of campomelic dysplasia in a father and his 46, XY daughter

R Savarirayan, SP Robertson, A Bankier, JG Rogers

Journal article  |  2003  |  Pediatric Pathology & Molecular Medicine

Log odds of carrying an Ancestral Mutation in BRCA1 or BRCA2 for a defined personal and family history in an Ashkenazi Jewish woman (LAMBDA)

C Apicella, L Andrews, SV Hodgson, SA Fisher, CM Lewis, E Solomon, K Tucker, M Friedlander, A Bankier, MC Southey, DJ Venter, JL Hopper

Journal article  |  2003  |  BREAST CANCER RESEARCH

Molecular analysis for genetic counselling in amelogenesis imperfecta

MJ Aldred, RK Hall, N Kilpatrick, A Bankier, R Savarirayan, SR Lamande, NJ Lench, PJM Crawford

Journal article  |  2002  |  Oral Diseases

Chromosomal abnormalities in idiopathic congenital bilateral vocal cord paralysis

RG Berkowitz, A Bankier, JP Moxham, RJM Gardner

Journal article  |  2001  |  Annals of Otology, Rhinology and Laryngology