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Showing 1–8 of 8 results

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Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

In a new study including 200 families who experienced perinatal death, adding genomic analyses to standard autopsies improved the identification of underlying pathogenic causes and informed genetic counseling.

Alicia B. Byrne
Peer Arts
Hamish S. Scott
ResearchOpen Access19 Jan 2023
Nature Medicine

Volume: 29, P: 180-189
Author Correction: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

Alicia B. Byrne
Peer Arts
Hamish S. Scott
Amendments and Corrections10 Jul 2023
Nature Medicine

Volume: 30, P: 302
Integrated multi-omics for rapid rare disease diagnosis on a national scale

A report from the Australian Acute Care Genomics programme shows that the integration of rapid whole-genome sequencing and multi-omic analyses informs diagnoses and treatment decisions in a prospective cohort of 290 critically ill infants and children.

Sebastian Lunke
Sophie E. Bouffler
Zornitza Stark
ResearchOpen Access08 Jun 2023
Nature Medicine

Volume: 29, P: 1681-1691
Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populations

Sanae Numata
Yoshiro Koda
Makoto Yoshino
Research06 Nov 2009
Journal of Human Genetics

Volume: 55, P: 18-22
Learning from scaling up ultra-rapid genomic testing for critically ill children to a national level

Stephanie Best
Helen Brown
Zornitza Stark
ResearchOpen Access28 Jan 2021
npj Genomic Medicine

Volume: 6, P: 1-9
Parental experiences of ultrarapid genomic testing for their critically unwell infants and children

Gemma R. Brett
Melissa Martyn
Zornitza Stark
Research28 Jul 2020
Genetics in Medicine

Volume: 22, P: 1976-1985
Attitudes of Australian health professionals towards rapid genomic testing in neonatal and paediatric intensive care

Zornitza Stark
Amy Nisselle
Clara L. Gaff
Research31 May 2019
European Journal of Human Genetics

Volume: 27, P: 1493-1501
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

Theodore G. Drivas
Dong Li
Elizabeth Bhoj
Research01 Jun 2020
European Journal of Human Genetics

Volume: 28, P: 1422-1431