Genotype of the cystic fibrosis population of the Hunter Region of New South Wales

Rl, Henry; Hettiarachchi, Lc; Colley, Peter; Collins, Christine A.; O’Loughlin, Edward; Cooper, Derick

doi:10.1016/s0378-3782(97)90561-2

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“…While case reports like these have been a feature of genetics in the Journal since its beginning, substantial pieces of research have also found a home here. Examples include a major study of 782 children with ‘mental deficiency’ as it was then termed, published in five papers; a report of the cytogenetic findings in 271 ‘Mongols’, a 1989 report describing deletion studies in 43 boys with Duchenne or Becker muscular dystrophy; a paper describing the cystic fibrosis alleles in a series of NSW patients; a study of 22q11 deletions in children ascertained because of conotruncal malformations of the heart; and a study of the results of investigation of intellectual disability using urine metabolic screening …”

Section: Genetics In the Journal Of Paediatrics And Child Healthmentioning

confidence: 99%

An explosion, a tsunami, a runaway train: Half a century of genetics

Kirk

2015

J Paediatrics Child Health

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Let's face it. There is no way of writing about the last half century of genetics without getting a little bit excitable. All of the terms in the title of this piece have been used by otherwise level-headed geneticists to describe the pace of change in genetics over the past few years. The thing is--they are right. Genetics is moving faster and faster. Five years ago, few people would have predicted that we would be where we are today. Five years from now, presumably, it will seem like 2015 was some kind of Dark Age when nothing much was happening. So it would be easy to lose perspective on the achievements of the past, or to assume that nothing much was happening in genetics until recently. However, everything that is happening in genetics now rests on the foundations built up over the past century, and particularly the past half century. And through that time, this journal has been a part of that story.

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Section: Genetics In the Journal Of Paediatrics And Child Healthmentioning

confidence: 99%

An explosion, a tsunami, a runaway train: Half a century of genetics

Kirk

2015

J Paediatrics Child Health

View full text Add to dashboard Cite

show abstract

Genotype of the cystic fibrosis population of the Hunter Region of New South Wales

Cited by 1 publication

References 0 publications

An explosion, a tsunami, a runaway train: Half a century of genetics

An explosion, a tsunami, a runaway train: Half a century of genetics

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