E. Haan

发表

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

Jane E. Carpenter, Jaana M. Hartikainen, W. Chung, 2019, Nature Genetics.

Communication and information-giving in high-risk breast cancer consultations: influence on patient outcomes

P. Butow, A. Barratt, B. Meiser, 2004, British Journal of Cancer.

trialhigh risk breast cancer families: a randomised The use of audiotapes in consultations with women

P. Butow, J. Kirk, A. Barratt, 2008 .

The use of audiotapes in consultations with women from high risk breast cancer families: a randomised trial

P. Butow, J. Kirk, A. Barratt, 2002, Journal of medical genetics.

Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa–Kuroki) syndrome

E. Haan, M. Delatycki, A. Bankier, 2004, American journal of medical genetics. Part A.

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

Jane E. Carpenter, Jack A. Taylor, W. Chung, 2019, Nature Genetics.

Homologous recombination DNA repair defects in PALB2-associated breast cancers

I. Hickie, L. Lipton, A. Shelling, 2019, npj Breast Cancer.

Intention to undergo prophylactic bilateral mastectomy in women at increased risk of developing hereditary breast cancer.

P. Butow, J. Kirk, K. Tucker, 2000, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Intention t o U ndergo P rophylactic B ilateral M astectomy in W omen a t I ncreased R isk o f D eveloping H ereditary Breast C ancer

P. Butow, J. Kirk, M. Friedlander, 2000 .

The Risk of Mortality or Cerebral Palsy in Twins: A Collaborative Population-Based Study

J. Ellenberg, K. Nelson, E. Blair, 2002, Pediatric Research.

Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource

John L Hopper, Edward Edkins, Phyllis N Butow, 2006, Breast Cancer Research.

A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations

N. Brown, F. McKenzie, W. Lattanzi, 2017, Genetics in Medicine.

Frontotemporal dementia and its subtypes: a genome-wide association study

Alexander Gerhard, Adrian Danek, Luigi Ferrucci, 2014, The Lancet Neurology.

What constitutes cerebral palsy?

E. Blair, J. Slee, E. Haan, 1998, Developmental medicine and child neurology.

Risk perceptions and knowledge of breast cancer genetics in women at increased risk of developing hereditary breast cancer

P. Butow, K. Tucker, A. Barratt, 2001 .

Breast cancer screening uptake in women at increased risk of developing hereditary breast cancer

P. Butow, K. Aittomäki, J. Kirk, 2004, Breast Cancer Research and Treatment.

Motor function in 5‐year‐old children with cerebral palsy in the South Australian population

J. Halbert, R. Russo, E. Haan, 2009, Developmental medicine and child neurology.

Nevoid basal cell carcinoma syndrome: review of 118 affected individuals.

E. Haan, G. Chenevix-Trench, S. Shanley, 1994, American journal of medical genetics.

Targeted sequencing identifies 91 neurodevelopmental disorder risk genes with autism and developmental disability biases

Bradley P. Coe, B. Coe, K. Friend, 2017, Nature Genetics.

Genome-wide association study identifies novel breast cancer susceptibility loci

Lester L. Peters, A. Uitterlinden, D. Cox, 2007, Nature.

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

K. Friend, M. Shaw, E. Haan, 2015, Molecular Psychiatry.

Amniotic band syndrome: a population-based study in two Australian states.

F. Norwood, C. Bower, E. Haan, 1993 .

Distinct skeletal abnormalities in four girls with Shprintzen-Goldberg syndrome.

E. Haan, D. Sillence, D. Milewicz, 1995, American journal of medical genetics.

FBN1, TGFBR1, and the Marfan‐craniosynostosis/mental retardation disorders revisited

E. Haan, S. Robertson, K. Sullivan, 2006, American journal of medical genetics. Part A.

Origins of accessory small ring marker chromosomes derived from chromosome 1

E. Haan, X. Guan, D. Callen, 1999, Journal of medical genetics.

Hereditary unstable DNA: a new explanation for some old genetic questions?

E. Haan, R. Richards, S. Yu, 1991, The Lancet.

Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome

E. Haan, M. Bitner-Glindzicz, R. Winter, 2001, Human Genetics.

Anthropometric measurements in the second trimester fetus.

E. Haan, E. Haan, A. Staples, 1993, Early human development.

A de novo unbalanced reciprocal translocation identified as paternal in origin in the Prader-Willi syndrome

R. Lindeman, R. Trent, E. Haan, 1991, Human Genetics.

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

Jane E. Carpenter, W. Chung, M. Beckmann, 2019, npj Breast Cancer.

Homologous recombination DNA repair defects in PALB2-associated breast cancers

I. Hickie, L. Lipton, A. Shelling, 2019, npj Breast Cancer.

Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia

P. Pietrini, R. Desikan, J. Trojanowski, 2019, Scientific Reports.

Amniotic band syndrome: a population-based study in two Australian states.

F. Norwood, C. Bower, E. Haan, 1993, Paediatric and perinatal epidemiology.

A type III collagen Gly559 to Arg helix mutation in Ehler's‐Danlos syndrome type IV

E. Haan, J. Bateman, D. Chan, 1998, Human mutation.