J. Nelson

发表

Incidence of the mucopolysaccharidoses in Northern Ireland

J. Nelson, John Nelson, 1997, Human Genetics.

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

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

Genetic study of congenital heart defects in Northern Ireland (1974-1978).

N. Nevin, J. Nelson, E. J. Hanna, 1994, Journal of medical genetics.

Periventricular Heterotopia in Common Microdeletion Syndromes

H. van Bokhoven, G. McGillivray, A. D. de Brouwer, 2010, Molecular Syndromology.

Intracerebral large artery disease in Aicardi–Goutières syndrome implicates SAMHD1 in vascular homeostasis

Y. Crow, D. Mitra, B. Bernardi, 2010, Developmental medicine and child neurology.

CCDC22: a novel candidate gene for syndromic X-linked intellectual disability

K. Friend, E. Haan, J. Gécz, 2012, Molecular Psychiatry.

Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype–phenotype correlation

J. Gécz, M. Stratton, P. Futreal, 2010, European Journal of Human Genetics.

Novel keratin 17 mutations in pachyonychia congenita type 2.

R. Tenconi, C. Coleman, W. McLean, 2001, The Journal of investigative dermatology.

Identification of marker chromosomes in thirteen patients using FISH probing.

J. Nelson, N. Chia, A. Daniel, 1994, American journal of medical genetics.

The Börjeson–Forssman–Lehman syndrome (BFLS, MIM #301900)

J. Gécz, M. Partington, G. Turner, 2006, European Journal of Human Genetics.

The HELLP syndrome associated with fetal medium-chain acyl-CoA dehydrogenase deficiency

B. Lewis, B. Walters, J. Nelson, 2000, Journal of Inherited Metabolic Disease.

Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein

N. Prescott, P. Scambler, C. Roberts, 2003, Nature Genetics.

Gillespie syndrome: a report of two further cases.

P. Grattan-Smith, M. Flaherty, J. Nelson, 1997, American journal of medical genetics.

Incidence of the mucopolysaccharidoses in Western Australia

J. Nelson, L. Greed, B. Carey, 2003, American journal of medical genetics. Part A.

Revealing hidden genetic diagnoses in the ocular anterior segment disorders

M. Cowley, M. Dinger, K. Holman, 2020, Genetics in Medicine.

Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: Nine novel mutations including T312S, a common allele that confers a mild phenotype

J. Hopwood, Z. Kato, S. Fukuda, 1998, Human mutation.

Karyotype, phenotype and parental origin in 19 cases of triploidy

C. Cooke‐Yarborough, H. Slater, B. Bennetts, 2001, Prenatal diagnosis.

Mutations in PYCR1 cause cutis laxa with progeroid features

Peter Nürnberg, Stefan Mundlos, Barry Merriman, 2009, Nature Genetics.

Revealing hidden genetic diagnoses in the ocular anterior segment disorders

M. Cowley, M. Dinger, K. Holman, 2020, Genetics in Medicine.

Abnormal Iris Processes May Be a Marker of Glaucoma Gene Carrier Status in Some Cases of Primary Infantile Glaucoma

D. Mackey, W. Morgan, C. Balaratnasingam, 2007, Ophthalmic genetics.

1024C>T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson–Forssman–Lehmann syndrome family

J. Gécz, M. Partington, G. Turner, 2004, European Journal of Human Genetics.

Changing profile of couples seeking genetic counseling for consanguinity in Australia

A. Bittles, J. Nelson, Helen Mountain, 2005, American journal of medical genetics. Part A.

Consanguineous marriage and its clinical consequences in migrants to Australia

A. Bittles, J. Nelson, A. Bittles, 1997, Clinical genetics.

A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C

J. Gécz, H. Ropers, J. Fryns, 2010, PathoGenetics.

Polydactyly in a carrier of the gene for the Meckel syndrome.

N. Nevin, J. Nelson, E. J. Hanna, 1994, American journal of medical genetics.

Lethal X-linked microcephaly with dysmorphic features, bilateral optic pathway aplasia and normal eyes

J. Nelson, H. Urich, V. Fabian, 2001, Acta Neuropathologica.

X‐linked mild non‐syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3

J. Gécz, J. Mulley, J. Nelson, 2003, American journal of medical genetics. Part A.

Two cases of cri‐du‐chat syndrome with mild phenotypic effect but with different size of 5p deletion

A. Smith, J. Nelson, R. Murray, 1990, Journal of paediatrics and child health.

An Australian Collaborative Study of Prader-Willi Syndrome Individuals and Their Families

R. Trent, P. Montgomery, J. Pearn, 1992 .

Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28.

D. Sillence, J. Mulley, L. Adès, 1993, American journal of medical genetics.