E. Haan

K. Friend, E. Haan, J. Mulley, 2013, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Rare copy number variation in cerebral palsy

E. Haan, J. Gécz, E. Eichler, 2013, European Journal of Human Genetics.

Reproductive technologies: the alchemy of life

E. Haan, M. Davies, 2012, The Medical journal of Australia.

Anti-CD20 Antibody Therapy for B-Cell Lymphomas

E. Haan, 2012 .

A maternal serum screen for trisomy 18: an extension of maternal serum screening for Down syndrome.

E. Haan, E. Ranieri, E. Robertson, 1991, American journal of human genetics.

The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.

E. Haan, A. Green, S. Bione, 1997, American journal of human genetics.

Informative microsatellite markers allow carrier detection in a Duchenne muscular dystrophy deletion pedigree in the absence of DNA from an affected boy.

K. Friend, E. Haan, R. Richards, 1992, American journal of human genetics.

Non-coding VMA21 deletions cause X-linked Myopathy with Excessive Autophagy

E. Haan, M. Mora, P. Blumbergs, 2015, Neuromuscular Disorders.

Genotype and clinical care correlations in craniosynostosis: Findings from a cohort of 630 Australian and New Zealand patients

E. Haan, D. David, I. Glass, 2013, American journal of medical genetics. Part C, Seminars in medical genetics.

across RNA cell death gene networks is implicated in the semantic variant of primary progressive aphasia.

L. Ferrucci, A. Ramasamy, E. Haan, 2019 .

Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS

E. Haan, P. Pietrini, R. Petersen, 2017, Scientific Reports.

D. Hernandez, M. Nalls, L. Ferrucci, 2017, bioRxiv.

Detection of a megabase deletion in a patient with branchio-oto-renal syndrome (BOR) and tricho-rhino-phalangeal syndrome (TRPS): implications for mapping and cloning the BOR gene.

E. Haan, M. Wagner, D. Wells, 1996, Genomics.

X‐inactivation and marker studies in three families with incontinentia pigmenti: implications for counselling and gene localisation

E. Haan, S. Kenwrick, H. Woffendin, 1999, Clinical genetics.

Ocular colobomata, polydactyly, cleft palate and panhypopituitarism: a new syndrome

E. Haan, J. Crompton, D. Selva, 2008, Clinical dysmorphology.

Cytomegalovirus and Epstein–Barr virus may be associated with some cases of cerebral palsy

E. Haan, A. Maclennan, G. Dekker, 2012, The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians.

Marfan syndrome resulting from a rare pathogenic FBN1 variant, ascertained through a proband with IgG4‐related arteriopathy

E. Haan, P. Byers, J. Slavotinek, 2021, American journal of medical genetics. Part A.

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females

J. Rosenfeld, M. Shaw, E. Haan, 2016, Molecular Psychiatry.

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

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

SUMO-1 marks the nuclear inclusions in familial neuronal intranuclear inclusion disease

E. Haan, P. Blumbergs, W. Gai, 2003, Experimental Neurology.

DNA from buccal swabs suitable for high-throughput SNP multiplex analysis.

E. Haan, A. Maclennan, G. Dekker, 2009, Journal of biomolecular techniques : JBT.

Predictive diagnosis of myotonic dystrophy with flanking microsatellite markers.

E. Haan, J. Mulley, S. White, 1991, Journal of medical genetics.

Familial Parry-Romberg disease.

E. Haan, D. David, P. Anderson, 2005, International journal of pediatric otorhinolaryngology.

Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome

E. Haan, A. Buckle, Meredith Wilson, 2018, Clinical Epigenetics.

Anthropometric measurements in the second trimester fetus.

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

Linkage studies with the gene for an X-linked syndrome of mental retardation, microcephaly and spastic diplegia (MRX2)

E. Haan, G. Sutherland, J. Mulley, 1988, American journal of medical genetics.

The gene for incontinentia pigmenti: failure of linkage studies using DNA probes to confirm cytogenetic localization

E. Haan, M. Bobrow, A. Harris, 1988, Clinical genetics.

Leigh's disease.

E. Haan, J. Mcgill, H. Powell, 1986, The Medical journal of Australia.

Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder.

Katherine R. Smith, A. Hoischen, E. Haan, 2015, Human molecular genetics.

Deletion analysis for Duchenne (and Becker) muscular dystrophy

E. Haan, J. Mulley, V. Hyland, 1989, Australian paediatric journal.

Perinatal risk factors for developmental dysplasia of the hip

E. Haan, K. McCaul, P. Cundy, 1997, Archives of disease in childhood. Fetal and neonatal edition.

Fetal and Maternal Candidate Single Nucleotide Polymorphism Associations With Cerebral Palsy: A Case-Control Study

E. Haan, G. Montgomery, A. Maclennan, 2012, Pediatrics.

Direct molecular diagnosis of myotonic dystrophy

E. Haan, A. Donnelly, R. Byard, 1993, Clinical genetics.

Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome.

M. Shaw, E. Haan, J. Gécz, 2015, European journal of medical genetics.

The genomic basis of cerebral palsy: a HuGE systematic literature review

E. Haan, A. Maclennan, G. Dekker, 2009, Human Genetics.

Assessment of myocardial oxygenation, strain, and diastology in MYBPC3-related hypertrophic cardiomyopathy: a cardiovascular magnetic resonance and echocardiography study.

E. Haan, J. Atherton, L. Yeates, 2019, European heart journal cardiovascular Imaging.

RPGR mutations might cause reduced orientation of respiratory cilia

E. Haan, H. Omran, W. Berger, 2013, Pediatric pulmonology.

A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardia.

E. Haan, C. Semsarian, J. Ingles, 2016, Heart rhythm.

Diagnosis of foetal alcohol syndrome and alcohol use in pregnancy: A survey of paediatricians’ knowledge, attitudes and practice

E. Haan, C. Bower, E. Elliott, 2006, Journal of paediatrics and child health.

Combining first and second trimester markers for Down syndrome screening: Think twice

E. Haan, P. O'Leary, K. Brameld, 2008, The Australian & New Zealand journal of obstetrics & gynaecology.

Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.

I. Scheffer, E. Haan, J. Gécz, 2015, Human molecular genetics.

Osteopathia striata with cranial sclerosis owing to WTX gene defect

E. Haan, W. Hul, M. Barbosa, 2010, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Acampomelic campomelic dysplasia with SOX9 mutation.

E. Haan, L. Morris, G. Scherer, 2000 .

A South Australian population-based study of congenital talipes equinovarus.

E. Haan, P. Baghurst, P. Cundy, 2005, Paediatric and perinatal epidemiology.

5,10-Methylenetetrahydrofolate reductase deficiency. Clinical and biochemical features of a further case

E. Haan, J. Rogers, P. B. Rowe, 1985, Journal of Inherited Metabolic Disease.

Hydrocephalus in Hajdu-Cheney syndrome.

E. Haan, L. Morris, L. Adès, 1993, Journal of medical genetics.

Familial hemifacial microsomia due to autosomal dominant inheritance. Case reports.

E. Haan, J. Slee, J. Goldblatt, 1994, Australian dental journal.

Associations between inherited thrombophilias, gestational age, and cerebral palsy

E. Haan, A. Maclennan, W. Hague, 2006 .

CP or not CP? A review of diagnoses in a cerebral palsy register.

E. Haan, R. Russo, C. Gibson, 2010, Pediatric neurology.

Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia.

Nick C Fox, Alan J. Thomas, D. Hernandez, 2018, Nature Medicine.

Late‐onset variant fibrodysplasia ossificans progressiva leading to misdiagnosis of ankylosing spondylitis

E. Haan, C. Barnett, M. Dugar, 2011, American journal of medical genetics. Part A.

SHORT syndrome: distinctive radiographic features.

E. Haan, L. Morris, 1998, Clinical dysmorphology.

Humeroradioulnar synostosis in a patient with lambdoid synostosis.

E. Haan, T. J. Edwards, I. Humphrey, 1993, Journal of Medical Genetics.

Is there a Role for Genetic Counselors in Prenatal Paternity Testing? – an Assessment Based on Audit of 13 years of Clinical Experience in South Australia

E. Haan, Lara Fitzgerald, S. Borrie, 2017, Journal of Genetic Counseling.

Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome)

Kathryn P. Burdon, Theresa Casey, Jamie E. Craig, 2017, BMC Medical Genetics.

FRA2A Is a CGG Repeat Expansion Associated with Silencing of AFF3

Martin S. Taylor, David I. Wilson, E. Haan, 2014, PLoS genetics.

FMR2 expression in families with FRAXE mental retardation.

E. Haan, J. Gécz, B. Oostra, 1997, Human molecular genetics.

Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families

Michael R Stratton, N. Brown, I. Scheffer, 2009, Journal of Medical Genetics.

Association between Apolipoprotein E genotype and cerebral palsy is not confirmed in a Caucasian population

E. Haan, A. Maclennan, G. Dekker, 2008, Human Genetics.

Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS

Nick C Fox, D. Hernandez, M. Nalls, 2017, Scientific Reports.

Folate awareness and the prevalence of neural tube defects in South Australia, 1966–2007

E. Haan, T. Gill, A. Nguyen, 2008, The Medical journal of Australia.

A New Syndrome With Craniosynostosis and Cleft Lip and Palate

E. Haan, D. David, P. Anderson, 2011, The Journal of craniofacial surgery.

FRA 2 A Is a CGG Repeat Expansion Associated with Silencing of AFF 3

Martin S. Taylor, David I. Wilson, E. Haan, 2014 .

Trends in state/population-based screening for neural tube defects (NTDS), south australia 1986-2004

E. Haan, C. Wilkinson, A. Chan, 2006 .

Age range for inclusion affects ascertainment by birth defects registers.

E. Haan, W. Scheil, C. Gibson, 2016, Birth defects research. Part A, Clinical and molecular teratology.

A novel mutation in exon b (R259C) of the MTM1 gene is associated with a mild myotubular myopathy. Mutation in brief no. 125. Online.

E. Haan, A. Donnelly, J. Mulley, 1998, Human mutation.

Molecular and cytogenetic studies of the Prader-Willi syndrome.

E. Haan, M. Wong, R. Lindeman, 1991, Journal of medical genetics.

“Folate before pregnancy”: the impact on women and health professionals of a population‐based health promotion campaign in South Australia

E. Haan, M. Netting, J. Pickering, 2001 .

Congenital heart malformation in Yunis-Varón syndrome.

E. Haan, L. Adès, L. Morris, 1993, Journal of medical genetics.

Predictive diagnosis for polycystic kidney disease using DNA markers

E. Haan, J. Mulley, A. Gedeon, 1990, The Medical journal of Australia.

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

N. Brown, E. Haan, F. McKenzie, 2018, Genetics in Medicine.

A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene.

E. Haan, J. Weissenbach, D. Paslier, 1994, Human molecular genetics.

Prenatal diagnosis and successful intrauterine treatment of a female fetus with 21‐hydroxylase deficiency

E. Haan, S. Serjeantson, R. Richards, 1992, The Medical journal of Australia.

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.

5,10-Methylenetetrahydrofolate reductase deficiency. Clinical and biochemical features of a further case

E. Haan, J. Rogers, P. B. Rowe, 1985, Journal of inherited metabolic disease.

FIRST‐TRIMESTER DIAGNOSIS OF SMITH–LEMLI–OPITZ SYNDROME

E. Haan, J. Fletcher, T. Khong, 1997, Prenatal diagnosis.

uniparental disomy . Angelman syndrome resulting from paternal Clinical features in four patients with

E. Haan, A. Smith, R. Trent, 2022 .

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

I. Scheffer, H. Mefford, E. Haan, 2019, American Journal of Human Genetics.

Identical by descent L 1 CAM mutation in two apparently unrelated families with intellectual disability without L 1 syndrome

E. Haan, J. Gécz, M. Bahlo, 2015 .

Becker muscular dystrophy (BMD) and Klinefelter's syndrome: a possible cause of variable expression of BMD within a pedigree.

E. Haan, J. Mulley, G. Suthers, 1989, Journal of medical genetics.

Aortic dissection, patent ductus arteriosus, iris hypoplasia and brachytelephalangy in a male adolescent.

E. Haan, D. Milewicz, K. Holman, 1999, Clinical dysmorphology.

Epidemiology of Down syndrome in South Australia, 1960-89.

E. Haan, G. Sutherland, A. Staples, 1991, American journal of human genetics.

Genetic susceptibility to viral exposure may increase the risk of cerebral palsy

E. Haan, A. Maclennan, G. Dekker, 2009, The Australian & New Zealand journal of obstetrics & gynaecology.

PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.

James N. Hughes, I. Scheffer, E. Haan, 2012, American journal of human genetics.

Perinatal risk factors for developmental dysplasia of the hip

E. Haan, K. McCaul, P. Cundy, 1997, Archives of disease in childhood. Fetal and neonatal edition.

Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder.

Katherine R. Smith, A. Hoischen, E. Haan, 2015, Human molecular genetics.

FIRST‐TRIMESTER DIAGNOSIS OF SMITH–LEMLI–OPITZ SYNDROME

E. Haan, J. Fletcher, T. Khong, 1997, Prenatal Diagnosis.