Suchergebnisse - "Smith, Janine"

PubPharm (137)

1

Genomic multidisciplinary teams : A model for navigating genetic mainstreaming and precision medicine

enthalten in: Journal of paediatrics and child health | 2024

von Ma, A. | Newing, T. | O'Shea, R. | +15

2

Genotype-phenotype correlations in paediatric and adolescent phaeochromocytoma and paraganglioma : a cross-sectional study

enthalten in: Archives of disease in childhood | 2024

von Seabrook, A. | Vasudevan, A. | Neville, K. | +7

3

Narrowing the diagnostic gap : Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2024

von Dias, K. | Shrestha, R. | Schofield, D. | +62

4

Study of How Adiposity in Pregnancy has an Effect on outcomeS (SHAPES) : protocol for a prospective cohort study

enthalten in: BMJ open | 2023

von Heslehurst, N. | Vinogradov, R. | Nguyen, G. | +9

5

DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants

enthalten in: Epigenomics | 2023

von Vos, N. | Reilly, J. | Elting, M. | +30

6

Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease

enthalten in: Human molecular genetics | 2022

von Lee, R. | Balasubramaniam, S. | Stentenbach, M. | +29

ErratumIn: Hum Mol Genet. 2023 Mar 20;32(7):1236. - PMID 36563328

7

A new era of genetic testing in congenital heart disease : A review

enthalten in: Trends in cardiovascular medicine | 2022

von Morrish, A. | Smith, J. | Enriquez, A. | +6

CommentIn: Trends Cardiovasc Med. 2022 Jul;32(5):320-321. - PMID 34062259

8

Whole Genome Sequencing, Focused Assays and Functional Studies Increasing Understanding in Cryptic Inherited Retinal Dystrophies

enthalten in: International journal of molecular sciences | 2022

von Nash, B. | Ma, A. | Ho, G. | +13

9

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2022

von Bournazos, A. | Riley, L. | Bommireddipalli, S. | +99

10

Current Practice of Genetic Testing and Counselling in Congenital Heart Disease : An Australian Perspective

enthalten in: Heart, lung & circulation | 2020

von Blue, G. | Smith, J. | Sholler, G. | +3

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